O15353
PR
Gene name |
FOXN1 (RONU, WHN) |
Protein name |
Forkhead box protein N1 |
Names |
Winged-helix transcription factor nude |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8456 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for O15353
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5OCN | X-ray | 270 A | A/B/C/D/E/F/G/H | 270-366 | PDB |
| 6EL8 | X-ray | 161 A | A/D | 270-366 | PDB |
| AF-O15353-F1 | Predicted | AlphaFoldDB |
632 variants for O15353
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8459111 rs146091703 RCV001315447 |
3 | S>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148865374 RCV000969002 CA8459117 |
7 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459122 rs760743167 RCV000793326 |
14 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8459124 rs143518324 RCV001058559 |
17 | T>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370010190 RCV002553895 RCV001060851 CA8459125 |
19 | L>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398320174 rs1362649393 RCV000644880 |
21 | G>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs545707585 RCV001122372 CA8459129 |
22 | E>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001062478 CA398320191 rs745398444 |
23 | R>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8459132 RCV000530196 rs779728088 |
27 | L>F | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597550071 RCV000814715 CA398320253 |
28 | M>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239259 CA8459137 rs771909592 |
31 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398320464 RCV001054967 rs1213715252 |
45 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs776864437 RCV001070325 CA8459159 |
47 | S>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs797046135 RCV000192344 COSM560126 CA276951 |
49 | S>L | lung Autism [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1174169171 CA398320579 RCV001225842 |
54 | D>G | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000824181 rs200888774 CA8459163 RCV002536014 |
54 | D>N | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8459166 RCV001202995 rs757771641 |
55 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059519 rs2069719445 |
65 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692958 rs777608417 CA8459173 |
65 | P>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000286412 VAR_020025 CA8459177 rs2071587 RCV000432702 RCV001824734 |
69 | R>C | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373326758 RCV001236124 CA8459181 |
71 | A>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142248984 CA10649779 RCV000339213 |
76 | E>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000691339 CA398320942 rs868443961 |
85 | G>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001322080 CA398320937 rs752348608 |
85 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8459194 rs745766812 RCV001296865 |
99 | Y>C | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066157 rs774400145 CA8459199 |
108 | A>T | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs182334974 CA8459205 RCV002252305 COSM3958134 RCV001056770 |
121 | A>T | lung T-cell immunodeficiency, congenital alopecia, and nail dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs557541901 RCV001514521 CA8459206 |
121 | A>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001125157 CA8459209 rs757155505 |
125 | P>T | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398321397 RCV000823737 rs1597551569 |
126 | Y>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8459214 RCV003224404 rs144301161 RCV000767976 |
128 | R>W | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459236 rs572543201 RCV001319354 |
156 | E>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2069729948 RCV001041286 |
164 | D>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000309436 CA8459243 rs367793349 |
166 | A>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2069730776 RCV001046524 |
169 | E>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_083857 CA289116441 rs907070119 |
169 | E>K | Variant assessed as Somatic; impact. TLIND; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA TOPMed UniProt |
|
rs2069731006 RCV001046522 |
173 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048989 CA398321978 rs1232299563 |
176 | S>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000348005 rs765090704 CA8459252 |
180 | W>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003145439 CA8459254 RCV001231065 rs758422805 |
183 | G>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8459255 RCV000308164 rs202144980 |
184 | L>I | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs757704079 RCV001069921 CA8459257 |
185 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027392 rs1597552140 |
188 | S>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10648897 rs886052757 RCV000391661 |
204 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000692459 rs746471609 CA8459283 |
204 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8459290 RCV002546948 RCV001342080 rs763958930 |
229 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368285745 RCV002554487 CA8459291 RCV001066298 |
230 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823349 RCV001357686 CA8459321 COSM3771298 rs756784275 |
235 | S>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8459323 rs745321270 RCV000311496 |
237 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8459324 rs188424977 RCV000933885 |
238 | G>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8459326 rs369460924 RCV001304031 |
239 | G>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8459328 rs140921495 RCV000694759 VAR_083858 |
242 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy does not affect transcriptional activity as shown by a transcriptional reporter assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000821088 rs1597558200 |
244 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009300 rs104894562 CA119892 RCV001027389 |
255 | R>* | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8459335 rs541713029 RCV001209424 |
255 | R>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_083859 | 255 | R>del | TIDAND and TLIND [UniProt] | Yes | UniProt |
|
RCV000644875 rs754796282 CA8459347 RCV002528912 COSM1207438 |
263 | D>N | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. large_intestine skin Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1445214604 RCV001305843 CA398323334 |
273 | I>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000793325 RCV002536959 RCV002487652 rs113979879 CA8459380 |
278 | I>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398323676 RCV001323223 RCV002543849 CA8459384 rs371766542 |
291 | S>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000798236 CA398323707 rs1406320425 |
294 | V>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA289118659 RCV001226768 rs140230257 |
297 | I>T | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000685861 rs1567883693 CA398323759 |
298 | Y>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1637854 CA8459388 RCV001048978 rs200898611 RCV003160381 |
302 | T>M | T-cell immunodeficiency, congenital alopecia, and nail dystrophy bone Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1064796115 RCV001027399 RCV000479476 |
303 | E>missing | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001078466 rs1597566356 RCV001027393 |
313 | D>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-lymphocyte deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301557 rs2069994755 |
315 | W>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808860 CA398324466 rs1597566383 |
317 | N>T | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1288977950 RCV001027391 VAR_083860 RCV001027390 COSM3712279 CA398324484 |
320 | R>W | upper_aerodigestive_tract T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT Variant assessed as Somatic; impact. TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs1597566413 VAR_083861 RCV001027395 RCV000821655 CA398324489 |
321 | H>N | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant TLIND; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001232246 rs1597566413 |
321 | H>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398324499 rs1567886249 RCV000694714 |
322 | N>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398324508 RCV000797866 rs1597566452 |
324 | S>T | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069995589 RCV001047401 |
324 | S>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813095 VAR_083862 CA398324519 rs1597566470 |
325 | L>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy TLIND; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs199983506 RCV001344507 CA8459417 |
330 | E>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2069997381 RCV001217898 |
346 | W>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044785 CA8459427 rs763859965 |
355 | K>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597566699 RCV000792460 |
363 | W>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_083863 rs1597566726 RCV001027394 RCV001078467 |
363 | W>C | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-lymphocyte deficiency TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA8459432 rs371817664 RCV001304053 |
372 | R>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459466 RCV000802745 rs370498747 |
393 | G>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000261534 CA8459468 rs199739943 |
395 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000555732 rs1064793129 RCV000480423 RCV001027396 |
401 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228694 rs2070011218 |
402 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061838 rs1365407291 CA398325514 |
403 | G>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000323469 CA8459476 rs772140783 |
406 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001423789 rs373908977 RCV000960614 CA8459479 |
411 | R>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002560289 VAR_021843 RCV001201607 rs2286520 CA8459478 |
411 | R>W | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398325653 rs1242844584 RCV002546078 RCV001320604 |
415 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597567692 RCV000810199 |
428 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002543798 RCV001320288 CA8459493 rs769742205 |
429 | A>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149982141 CA8459495 RCV000552110 |
430 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000437225 VAR_083864 rs61749867 RCV000380418 CA8459494 |
430 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy does not affect transcriptional activity as shown by a transcriptional reporter assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459497 RCV001236769 rs774493152 |
433 | I>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1003343277 CA289120235 RCV001313457 |
437 | N>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2070016524 RCV001346015 |
438 | P>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046946 rs1064796227 RCV000484215 |
439 | L>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs113097916 RCV000795974 CA289120237 |
439 | L>M | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8459502 RCV001035309 rs767045447 |
443 | L>F | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070017819 RCV001206062 |
451 | Y>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070018439 RCV001068832 |
457 | H>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201648958 RCV001326331 CA8459508 |
457 | H>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs745708044 RCV001038501 CA8459509 |
459 | S>* | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769545767 CA8459510 RCV000703851 |
461 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597567985 RCV001027398 RCV000824264 |
465 | P>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815000 rs765619893 CA8459522 |
471 | L>W | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597568117 RCV001027397 |
473 | P>missing | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818184 CA398326368 rs1438890364 |
474 | Q>* | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_083865 | 474 | Q>del | TLIND [UniProt] | Yes | UniProt |
|
RCV000818143 CA8459527 rs755959486 |
477 | G>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000806376 CA398326440 rs1489958411 |
479 | L>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1198301349 RCV001352270 |
480 | E>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567887558 RCV000699596 |
482 | R>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211654 CA8459530 RCV000728815 rs768671496 |
482 | R>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398326462 RCV000644878 rs1278753857 |
482 | R>W | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8459531 rs374049334 RCV000794643 |
485 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003147589 rs1169577591 RCV001078468 |
489 | Q>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070024644 RCV001303436 |
489 | Q>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8459536 RCV001470575 rs201850763 |
491 | S>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772251699 RCV001305013 CA8459535 |
491 | S>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA289120336 rs932776196 RCV001216823 |
498 | P>R | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200807422 CA8459546 RCV001069570 |
498 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs368261937 RCV002547442 CA8459551 RCV001345466 |
508 | E>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8459557 rs200053524 RCV000322459 |
517 | D>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs34814444 CA8459559 RCV000487106 RCV000384269 |
519 | L>Q | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000768224 rs1161194345 |
529 | L>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070031279 RCV001067880 |
538 | D>N | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644877 CA8459567 rs181483148 RCV003222076 |
540 | D>N | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238360 rs758240885 CA8459589 |
544 | N>K | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs920787440 CA289121318 RCV001294797 |
545 | L>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs757413677 CA8459593 RCV001122480 |
551 | D>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000287570 CA8459595 rs137872361 |
553 | S>G | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398327172 RCV001299666 rs1597571138 |
557 | D>E | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8459602 rs12603884 RCV000644879 |
566 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000344775 CA8459606 RCV001838998 rs149225004 |
569 | S>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1218768690 RCV000813872 |
570 | S>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376900275 RCV000810409 COSM2800277 CA8459607 |
570 | S>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Variant assessed as Somatic; 0.0 impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756165992 CA8459612 RCV001122481 |
576 | P>L | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303087 rs779266385 CA8459617 |
585 | P>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773519376 RCV000815804 |
586 | C>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8459619 rs73278523 RCV000546006 |
586 | C>Y | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071094 CA8459625 rs762706851 |
595 | G>S | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070093430 RCV001047869 |
599 | A>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001824737 RCV000399481 VAR_020026 RCV000436902 rs532648 CA8459626 |
599 | A>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301355 rs1340893816 CA398328162 |
602 | S>G | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1377884054 CA398328216 RCV000807963 |
604 | G>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001063946 rs2070095771 |
617 | Y>missing | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327482 CA8459642 rs141857607 RCV002499647 |
619 | A>P | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774031845 RCV001295764 CA8459645 CA8459644 |
622 | E>D | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs139677414 RCV001242621 CA8459654 |
628 | P>H | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003169258 rs368962978 RCV000902966 CA8459655 |
629 | T>M | T-cell immunodeficiency, congenital alopecia, and nail dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459657 RCV001226049 rs199910445 |
632 | A>V | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs146028232 RCV001125266 CA8459661 |
641 | S>G | T-cell immunodeficiency, congenital alopecia, and nail dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398319961 rs1443136312 |
2 | V>L | No |
ClinGen gnomAD |
|
|
CA8459115 rs569010186 |
6 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769333930 CA8459114 |
6 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371402008 CA289115800 |
10 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA398320051 rs1334824692 |
10 | D>N | No |
ClinGen gnomAD |
|
|
CA8459119 rs375839642 |
11 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459120 rs375839642 |
11 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459121 rs750483849 |
12 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA398320092 rs1191131110 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA289115826 rs963520404 |
15 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289115828 rs267604777 |
18 | R>K | No |
ClinGen Ensembl |
|
|
rs753312194 CA8459127 |
20 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs779415464 CA398320152 |
20 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779415464 CA8459126 |
20 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745398444 CA8459130 |
23 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769294768 CA8459131 |
23 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320211 rs1447126294 |
24 | Q>H | No |
ClinGen gnomAD |
|
|
CA398320247 rs1439529407 |
27 | L>P | No |
ClinGen gnomAD |
|
|
CA398320258 rs1313905410 |
28 | M>T | No |
ClinGen gnomAD |
|
|
rs1224919656 CA398320271 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
rs768509291 CA8459134 |
29 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs774122501 CA8459135 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320292 rs771909592 |
31 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761614863 CA8459136 |
31 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761614863 CA398320289 |
31 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320306 rs1190704302 |
32 | G>D | No |
ClinGen gnomAD |
|
|
rs372813895 CA8459139 |
33 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398320324 rs1168749079 |
34 | P>L | No |
ClinGen gnomAD |
|
|
rs1372926211 CA398320328 |
35 | G>S | No |
ClinGen gnomAD |
|
|
CA398320355 rs1465815044 |
37 | P>H | No |
ClinGen gnomAD |
|
|
rs754179388 CA8459141 |
40 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA398320408 rs1460425230 |
41 | S>N | No |
ClinGen gnomAD |
|
|
rs771191077 CA8459158 |
46 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398320488 rs1325265554 |
47 | S>G | No |
ClinGen TOPMed |
|
|
CA398320500 rs1219285637 |
48 | C>R | No |
ClinGen gnomAD |
|
|
rs200786966 CA8459165 |
54 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459167 rs757771641 |
55 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459168 rs753353730 |
56 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199685259 CA8459170 CA289116154 |
58 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320625 rs1448473984 |
58 | E>G | No |
ClinGen gnomAD |
|
|
CA8459171 rs747815915 |
60 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1222176476 CA398320658 |
61 | P>H | No |
ClinGen gnomAD |
|
|
CA289116157 rs938556199 |
61 | P>T | No |
ClinGen TOPMed |
|
|
CA398320674 rs1355072067 |
62 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 65 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398320701 rs777608417 |
65 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320695 rs1278633346 |
65 | P>S | No |
ClinGen gnomAD |
|
|
rs776666522 CA8459176 |
68 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769969790 CA8459178 COSM266558 |
69 | R>H | Variant assessed as Somatic; 0.0 impact. liver large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA398320751 rs769969790 |
69 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775611762 CA8459179 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373326758 CA8459180 |
71 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398320789 rs1424357269 |
73 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA398320798 rs1414873781 |
74 | G>R | No |
ClinGen gnomAD |
|
|
CA398320842 rs1330775157 |
77 | Q>R | No |
ClinGen gnomAD |
|
|
CA8459185 rs750882115 |
78 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459186 rs150894024 |
79 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150894024 CA398320865 |
79 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398320874 rs1238311216 |
80 | G>S | No |
ClinGen TOPMed |
|
|
CA398320891 rs1301951988 |
81 | H>R | No |
ClinGen gnomAD |
|
|
CA398320908 rs1344890876 |
82 | C>Y | No |
ClinGen gnomAD |
|
|
rs1220212347 CA398320916 |
83 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752348608 CA8459188 |
85 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA289116199 rs868443961 |
85 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398320949 rs1161677188 |
86 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8459190 rs777223855 |
87 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459189 rs765915993 |
87 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289116215 rs567680104 |
89 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA398320983 rs567680104 |
89 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8459191 rs746851611 |
91 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244665404 CA398321013 |
92 | R>K | No |
ClinGen TOPMed |
|
|
rs1379400777 CA398321028 |
93 | L>H | No |
ClinGen TOPMed |
|
|
rs781323725 CA8459193 |
95 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA398321080 rs1170313359 |
97 | D>E | No |
ClinGen gnomAD |
|
|
rs1597551369 CA398321094 |
98 | K>M | No |
ClinGen Ensembl |
|
|
rs770062805 CA8459195 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA398321155 rs1331059602 |
103 | G>D | No |
ClinGen gnomAD |
|
|
rs749272531 CA8459197 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276979504 CA398321199 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs372060062 CA8459200 |
109 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8459201 rs772403336 |
111 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398321220 rs1319520901 |
111 | S>R | No |
ClinGen gnomAD |
|
|
CA398321232 rs761166991 |
112 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459203 rs761166991 |
112 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8459202 rs773751011 |
112 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223585973 CA398321249 |
114 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA289116237 rs1026597581 |
114 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA398321258 rs1477404190 |
115 | F>L | No |
ClinGen gnomAD |
|
|
rs1567878477 CA398321267 |
115 | F>L | No |
ClinGen Ensembl |
|
|
CA398321282 rs1183829510 |
117 | K>Q | No |
ClinGen TOPMed |
|
|
CA398321302 rs1468864529 |
118 | G>D | No |
ClinGen TOPMed |
|
|
rs1259935009 CA398321297 |
118 | G>S | No |
ClinGen Ensembl |
|
|
rs1424649952 CA398321308 |
119 | S>G | No |
ClinGen gnomAD |
|
|
rs1478898905 CA398321323 |
120 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA398321350 rs1359161646 |
122 | P>L | No |
ClinGen gnomAD |
|
|
rs1019777033 CA289116263 |
124 | H>Y | No |
ClinGen TOPMed |
|
|
CA8459210 rs781127331 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597551573 CA398321403 |
126 | Y>C | No |
ClinGen Ensembl |
|
|
CA398321420 rs1288723362 |
127 | K>R | No |
ClinGen TOPMed |
|
|
CA398321428 rs144301161 |
128 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398321436 rs1567878606 |
129 | P>T | No |
ClinGen Ensembl |
|
|
CA8459215 rs140801727 |
131 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865864248 CA289116273 |
131 | H>Y | No |
ClinGen Ensembl |
|
|
rs772494364 CA8459219 |
134 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs371414972 CA8459218 |
134 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144687944 CA8459220 |
136 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760960446 CA398321553 |
137 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165043385 CA398321559 |
138 | A>S | No |
ClinGen gnomAD |
|
|
rs762569174 CA8459224 |
139 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367663123 CA8459223 |
139 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398321598 rs1473793066 |
141 | T>N | No |
ClinGen TOPMed |
|
|
rs977729381 CA289116325 |
143 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM1207436 CA289116323 rs1052421079 |
143 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs554249129 CA8459226 |
144 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 144 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398321676 rs1191129218 |
148 | S>F | No |
ClinGen TOPMed |
|
|
CA8459228 rs761540532 |
148 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8459229 rs767224907 |
149 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs756015959 CA289116328 |
151 | T>N | No |
ClinGen Ensembl |
|
|
rs750250304 CA8459230 |
152 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755829506 CA8459231 |
153 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755829506 CA398321730 |
153 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8459233 rs753697182 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289116367 rs913150947 |
157 | A>S | No |
ClinGen Ensembl |
|
|
rs1213099060 CA398321789 |
158 | F>C | No |
ClinGen TOPMed |
|
|
CA8459238 rs147463732 |
159 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA289116410 rs945908720 |
160 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA398321816 rs1486844476 |
160 | E>V | No |
ClinGen gnomAD |
|
|
CA289116420 rs938510836 |
162 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1464898433 CA398321852 |
163 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1464898433 CA398321853 |
163 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746353853 CA8459242 |
165 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs142223881 CA8459241 |
165 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398321886 rs367793349 |
166 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA289116427 rs367793349 |
166 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398321900 rs1388129441 |
167 | E>V | No |
ClinGen TOPMed |
|
|
rs774014717 CA8459244 |
168 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs543966857 CA8459247 |
170 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8459246 rs767313142 |
170 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1001356175 CA289116452 |
173 | P>L | No |
ClinGen Ensembl |
|
|
CA8459249 rs199509379 |
178 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597552031 CA398322008 |
181 | C>G | No |
ClinGen Ensembl |
|
|
rs1597552049 CA398322013 |
181 | C>W | No |
ClinGen Ensembl |
|
|
rs1457414771 CA398322011 |
181 | C>Y | No |
ClinGen gnomAD |
|
|
CA398322015 rs1184219656 |
182 | N>D | No |
ClinGen TOPMed |
|
|
CA398322021 rs62640040 |
182 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA289116476 rs758422805 |
183 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398322033 rs1313375033 |
185 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA398322040 rs1313850485 |
186 | Y>C | No |
ClinGen TOPMed |
|
|
rs1313850485 CA398322039 |
186 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 186 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467900285 CA398322044 |
187 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1467900285 CA398322046 |
187 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398322057 rs1399072173 |
188 | S>R | No |
ClinGen gnomAD |
|
|
CA8459258 rs781394576 |
189 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs746183272 CA8459259 |
190 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1048442988 CA289116513 |
191 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776102940 CA8459261 |
194 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332676871 CA398322107 |
196 | L>P | No |
ClinGen gnomAD |
|
|
rs1164824989 CA398322126 |
197 | G>C | No |
ClinGen gnomAD |
|
|
CA398322131 rs960677282 |
197 | G>D | No |
ClinGen Ensembl |
|
|
CA289117532 rs960677282 |
197 | G>V | No |
ClinGen Ensembl |
|
|
rs1297363497 CA398322167 |
200 | V>G | No |
ClinGen gnomAD |
|
|
CA289117539 rs746471609 |
204 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA398322265 rs1002428746 |
209 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776297762 CA8459285 |
212 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA398322315 rs1393441584 |
214 | F>V | No |
ClinGen TOPMed |
|
|
CA289117561 rs535522153 |
215 | C>F | No |
ClinGen 1000Genomes |
|
|
CA8459286 rs759297920 |
217 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398322346 rs1567880635 |
217 | Q>R | No |
ClinGen Ensembl |
|
|
CA8459287 rs769545823 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398322412 rs568219000 |
223 | M>K | No |
ClinGen TOPMed |
|
|
CA289117574 rs568219000 |
223 | M>T | No |
ClinGen TOPMed |
|
|
rs775469489 CA8459288 |
225 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179152799 CA398322452 |
226 | S>C | No |
ClinGen TOPMed |
|
|
CA398322470 rs1482700012 |
228 | Q>R | No |
ClinGen gnomAD |
|
|
CA398322479 rs763958930 |
229 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763958930 CA398322477 |
229 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368285745 CA8459293 |
230 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459292 rs368285745 |
230 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398322910 rs1158862094 |
234 | Y>D | No |
ClinGen TOPMed |
|
|
rs1439497551 CA398322924 |
235 | S>P | No |
ClinGen gnomAD |
|
|
CA398322938 rs1478261889 |
236 | P>Q | No |
ClinGen gnomAD |
|
|
rs1248385624 CA398322960 |
239 | G>S | No |
ClinGen TOPMed |
|
|
rs1411719423 CA398322986 |
241 | Y>C | No |
ClinGen gnomAD |
|
|
rs200736487 CA8459327 |
241 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459329 rs748116782 COSM1493844 |
242 | P>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1314395526 CA398323013 |
244 | P>T | No |
ClinGen gnomAD |
|
|
rs1405969510 CA398323026 |
245 | Y>H | No |
ClinGen gnomAD |
|
|
rs574409832 CA8459332 |
246 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398323105 rs1270404915 |
252 | Q>R | No |
ClinGen gnomAD |
|
|
CA8459337 rs765625910 |
256 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA398323146 rs765625910 |
256 | M>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 258 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193292942 CA398323177 |
258 | P>R | No |
ClinGen gnomAD |
|
|
rs1487431934 CA398323171 |
258 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA289118133 rs1015421451 |
259 | Q>H | No |
ClinGen Ensembl |
|
|
CA8459341 rs758957603 |
259 | Q>P | No |
ClinGen ExAC |
|
|
rs764441091 CA8459342 |
261 | S>R | No |
ClinGen ExAC |
|
|
CA289118140 rs879136962 |
261 | S>R | No |
ClinGen Ensembl |
|
|
rs749965092 CA8459343 |
262 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs755574780 CA8459344 |
262 | T>S | No |
ClinGen ExAC |
|
|
CA8459349 rs778760041 |
263 | D>A | No |
ClinGen ExAC |
|
|
CA8459351 rs773246383 |
263 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8459348 rs778760041 |
263 | D>G | No |
ClinGen ExAC |
|
|
CA8459350 rs778760041 |
263 | D>V | No |
ClinGen ExAC |
|
|
rs1421101060 CA398323237 |
264 | G>E | No |
ClinGen TOPMed |
|
|
CA8459352 rs747131357 |
264 | G>W | No |
ClinGen ExAC |
|
|
CA8459355 rs200819879 |
265 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA289118158 rs200543302 |
268 | L>V | No |
ClinGen TOPMed |
|
|
rs1445214604 CA398323336 |
273 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398323351 rs1427071220 |
274 | Y>C | No |
ClinGen TOPMed |
|
|
rs1007949432 CA289118629 |
282 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398323556 rs1205606613 COSM976885 |
283 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| VAR_010376 | 283 | A>V | No | UniProt | |
|
CA398323604 rs767234511 |
286 | N>K | No |
ClinGen gnomAD |
|
|
CA398323665 rs1385768054 |
291 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398323709 rs1406320425 |
294 | V>I | No |
ClinGen gnomAD |
|
|
rs767958911 CA8459386 |
295 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398323726 rs1220808552 |
295 | S>T | No |
ClinGen gnomAD |
|
|
rs753397380 CA8459387 |
296 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1317464815 CA398323781 |
299 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1006349854 CA398323817 CA289118670 |
301 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA398323829 rs200898611 |
302 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8459389 rs764968394 |
307 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs561636659 COSM436234 CA8459413 |
313 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 316 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16607552 RCV000434343 rs1057524466 |
321 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs202021251 CA289120003 |
331 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 333 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8459418 rs148161520 |
333 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398324585 rs1293126688 |
334 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA398324599 rs1362105123 |
336 | S>L | No |
ClinGen gnomAD |
|
|
CA289120007 rs996815327 |
337 | G>V | No |
ClinGen Ensembl |
|
|
rs141965955 COSM183570 CA8459420 RCV000506756 |
341 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8459421 rs756849720 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459422 rs756849720 |
341 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398324662 rs1428303181 |
342 | K>N | No |
ClinGen TOPMed |
|
|
rs1340294787 CA398324664 |
343 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8459423 rs376778792 |
347 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443474994 CA398324748 |
349 | N>S | No |
ClinGen gnomAD |
|
|
CA8459424 rs771407322 |
350 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289120014 rs866929627 |
351 | A>T | No |
ClinGen Ensembl |
|
|
COSM705847 rs762513012 CA398324807 |
353 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1031281442 CA289120020 |
354 | D>N | No |
ClinGen gnomAD |
|
|
rs943085047 CA289120023 |
359 | E>G | No |
ClinGen TOPMed |
|
|
RCV001171931 rs2069998681 |
359 | E>K | No |
ClinVar dbSNP |
|
|
rs1377148347 CA398324920 |
362 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398324923 rs1377148347 |
362 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398324938 rs1451982666 |
363 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761738547 CA398324975 |
365 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 367 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398325015 rs1233364407 |
368 | P>L | No |
ClinGen TOPMed |
|
|
rs867638414 CA289120030 |
369 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398325040 rs1309264066 |
370 | A>V | No |
ClinGen TOPMed |
|
|
rs750434623 CA8459431 |
372 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750434623 CA398325058 |
372 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs893690865 CA289120043 |
374 | S>R | No |
ClinGen TOPMed |
|
|
rs1253869988 CA398325107 |
375 | M>T | No |
ClinGen gnomAD |
|
|
CA398325123 rs1460524418 |
376 | A>V | No |
ClinGen gnomAD |
|
|
CA398325148 rs1183398493 |
378 | P>S | No |
ClinGen gnomAD |
|
|
rs866358739 CA289120137 |
384 | L>I | No |
ClinGen Ensembl |
|
|
rs751890749 CA8459463 |
385 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064795137 RCV000478266 |
390 | E>missing | No |
ClinVar dbSNP |
|
|
CA8459465 rs546111923 |
390 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309137247 CA398325405 |
393 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8459467 rs370498747 |
393 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398325453 rs1490450206 |
398 | G>C | No |
ClinGen gnomAD |
|
|
rs886043619 RCV000379300 |
399 | C>missing | No |
ClinVar dbSNP |
|
|
CA398325469 rs1436516121 |
399 | C>S | No |
ClinGen TOPMed |
|
|
CA8459469 rs747595085 |
400 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459471 rs772876092 |
401 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459474 rs776619811 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459473 rs770730670 |
402 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1085307670 RCV000489462 |
404 | L>missing | No |
ClinVar dbSNP |
|
|
rs1304627675 CA398325539 |
405 | S>Y | No |
ClinGen gnomAD |
|
|
CA289120194 rs1024684934 |
408 | G>A | No |
ClinGen Ensembl |
|
|
CA398325596 rs1363991546 |
409 | P>L | No |
ClinGen gnomAD |
|
|
CA398325590 rs1482458049 |
409 | P>S | No |
ClinGen TOPMed |
|
|
CA8459477 rs752801138 |
410 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs751774826 CA8459480 |
412 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751774826 CA289120200 |
412 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459482 rs561672659 |
413 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8459483 rs750761025 |
414 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750761025 CA398325648 |
414 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV003156116 rs1567886959 RCV000735312 |
416 | P>missing | No |
ClinVar dbSNP |
|
| rs1567886959 | 416 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398325678 rs1182344276 |
417 | A>P | No |
ClinGen gnomAD |
|
|
CA289120210 rs983450474 |
417 | A>V | No |
ClinGen Ensembl |
|
|
CA8459484 rs756693943 |
418 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA289120211 rs908759126 |
419 | L>P | No |
ClinGen Ensembl |
|
|
CA8459486 rs747637565 |
421 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1399687353 CA398325754 |
423 | L>R | No |
ClinGen gnomAD |
|
|
CA398325749 rs1297228417 |
423 | L>V | No |
ClinGen TOPMed |
|
|
rs746671928 CA8459489 |
426 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA8459490 rs770510635 |
427 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745618038 CA8459492 |
427 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770510635 CA8459491 |
427 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398325843 rs1349679884 |
431 | G>S | No |
ClinGen gnomAD |
|
|
rs764228081 CA8459496 |
432 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567887082 CA398325868 |
433 | I>F | No |
ClinGen Ensembl |
|
|
rs774493152 CA398325874 |
433 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201815564 CA398325888 |
434 | P>L | No |
ClinGen gnomAD |
|
|
CA8459498 rs762109233 |
435 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398325925 rs1185811723 |
437 | N>K | No |
ClinGen gnomAD |
|
|
rs767783215 CA8459499 |
438 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA289120238 rs1055368099 |
440 | Q>E | No |
ClinGen TOPMed |
|
|
CA8459504 rs370079952 |
444 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459503 rs370079952 |
444 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398326023 rs1454579597 |
445 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195766947 CA398326060 |
448 | P>T | No |
ClinGen TOPMed |
|
|
rs1335000418 CA398326114 |
452 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8459506 rs746435475 |
453 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA398326140 rs1252573255 |
454 | T>K | No |
ClinGen TOPMed |
|
|
CA398326142 rs1252573255 |
454 | T>R | No |
ClinGen TOPMed |
|
|
CA289120254 rs745708044 |
459 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052791842 CA289120255 |
460 | P>L | No |
ClinGen Ensembl |
|
|
CA398326236 rs1202762495 |
462 | L>P | No |
ClinGen gnomAD |
|
|
CA289120257 rs892345693 |
463 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1328052776 CA398326250 |
463 | A>V | No |
ClinGen TOPMed |
|
|
CA8459512 rs200878770 |
464 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1391900562 CA398326258 |
464 | P>L | No |
ClinGen TOPMed |
|
|
CA398326277 rs1397232578 |
466 | G>E | No |
ClinGen TOPMed |
|
|
rs768418468 CA8459513 |
466 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8459516 rs761946932 |
467 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398326289 rs761946932 |
467 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761946932 CA8459515 |
467 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774494770 CA8459514 |
467 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA398326283 rs774494770 |
467 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8459517 rs144637690 |
468 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8459518 rs144637690 |
468 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398326294 rs1479217897 |
468 | P>S | No |
ClinGen gnomAD |
|
|
CA8459520 rs754364565 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754364565 CA398326321 |
470 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398326316 rs1166129572 |
470 | P>S | No |
ClinGen gnomAD |
|
|
rs961382506 CA289120273 |
473 | P>L | No |
ClinGen TOPMed |
|
|
CA398326367 rs1438890364 |
474 | Q>E | No |
ClinGen TOPMed |
|
|
CA398326371 rs1282867070 |
474 | Q>R | No |
ClinGen gnomAD |
|
|
CA8459523 rs551310590 |
475 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8459525 rs748031157 |
476 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398326411 rs755959486 |
477 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs530723331 CA289120283 |
479 | L>F | No |
ClinGen 1000Genomes |
|
|
CA398326448 rs1198301349 |
480 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA398326444 rs1198301349 |
480 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA398326456 rs1269116251 |
481 | L>M | No |
ClinGen gnomAD |
|
|
rs768671496 CA398326463 |
482 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398326488 rs1462376989 |
486 | G>V | No |
ClinGen gnomAD |
|
|
rs1363544404 CA398326493 |
487 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1597568291 CA398326490 |
487 | T>P | No |
ClinGen Ensembl |
|
|
CA398326494 rs1363544404 |
487 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA289120302 rs965653001 |
488 | P>L | No |
ClinGen Ensembl |
|
|
CA398326537 rs1228874818 |
494 | P>R | No |
ClinGen gnomAD |
|
|
CA8459538 rs771004105 |
494 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8459541 rs759765753 |
495 | A>P | No |
ClinGen ExAC |
|
|
CA8459540 rs759765753 |
495 | A>S | No |
ClinGen ExAC |
|
|
rs1357796279 CA398326542 |
495 | A>V | No |
ClinGen gnomAD |
|
|
rs753110723 CA8459543 |
496 | H>P | No |
ClinGen ExAC |
|
|
rs761377489 CA8459544 |
497 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA398326566 rs1184264768 |
500 | S>G | No |
ClinGen gnomAD |
|
|
rs914906056 CA289120341 |
500 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755766998 CA8459549 |
505 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA398326637 rs934663731 |
511 | P>S | No |
ClinGen gnomAD |
|
|
CA289120349 rs934663731 |
511 | P>T | No |
ClinGen gnomAD |
|
|
rs754708376 CA8459552 |
512 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140965751 CA8459553 |
513 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398326655 rs1453224159 |
514 | T>N | No |
ClinGen TOPMed |
|
|
CA8459554 rs748095576 |
515 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA289120368 rs189886792 |
516 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8459555 rs189886792 |
516 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200053524 CA289120371 |
517 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398326680 rs1205483119 |
518 | T>A | No |
ClinGen TOPMed |
|
|
CA289120373 rs773523562 |
518 | T>N | No |
ClinGen gnomAD |
|
|
rs759981952 CA8459560 |
520 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770048065 CA8459561 |
521 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259755433 CA398326716 |
522 | D>G | No |
ClinGen gnomAD |
|
|
rs776033591 CA8459562 |
523 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289120384 rs1013487643 |
524 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 524 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 525 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289120387 rs939283306 |
526 | G>D | No |
ClinGen TOPMed |
|
|
CA8459564 rs764517468 |
528 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398326793 rs1183972801 |
531 | A>V | No |
ClinGen gnomAD |
|
|
rs760056095 CA8459566 |
532 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA398326810 rs1417066447 |
533 | N>S | No |
ClinGen gnomAD |
|
|
rs1157248989 CA398326818 |
534 | P>A | No |
ClinGen gnomAD |
|
|
CA398326838 rs1363398859 |
536 | L>F | No |
ClinGen gnomAD |
|
|
CA398326851 rs1457857399 |
537 | T>I | No |
ClinGen gnomAD |
|
|
rs753403074 CA8459568 |
541 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754872536 CA8459569 |
542 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459588 rs752558563 |
543 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8459590 rs764164399 |
546 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8459591 rs751534618 |
550 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757413677 CA8459592 |
551 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA398327082 rs1177536065 |
551 | D>V | No |
ClinGen TOPMed |
|
|
CA398327123 rs1300939596 |
554 | L>F | No |
ClinGen gnomAD |
|
|
CA8459596 rs187814037 |
555 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749701993 CA8459597 |
556 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398327163 rs1597571133 |
557 | D>A | No |
ClinGen Ensembl |
|
|
CA398327156 rs768979426 |
557 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459598 rs768979426 |
557 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748592228 CA8459600 |
562 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12603884 CA289121354 |
566 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398327604 rs908202408 |
567 | T>A | No |
ClinGen TOPMed |
|
|
rs368961558 CA8459604 |
567 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA289121365 rs908202408 |
567 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 568 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398327635 rs149225004 |
569 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957199100 CA289121371 |
569 | S>T | No |
ClinGen TOPMed |
|
|
CA289121381 rs1041116525 |
571 | M>T | No |
ClinGen TOPMed |
|
|
rs757144288 CA8459609 |
571 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459610 rs767448645 |
573 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs981106770 CA289121383 |
574 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs981106770 CA398327695 |
574 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398327747 rs1379041046 |
577 | P>R | No |
ClinGen TOPMed |
|
|
rs1342979166 CA398327745 |
577 | P>S | No |
ClinGen gnomAD |
|
|
rs776552106 CA289121386 |
578 | P>T | No |
ClinGen Ensembl |
|
|
rs1273823392 CA398327805 |
581 | F>L | No |
ClinGen Ensembl |
|
|
CA398327825 rs1367205069 |
581 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8459614 rs754057235 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459615 rs755395434 |
583 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1298276474 | 583 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755395434 CA398327842 |
583 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549453569 CA8459620 |
587 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778318227 CA8459621 |
588 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775338114 CA8459624 |
594 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA289121433 rs769422262 |
594 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459623 rs769422262 |
594 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400518782 CA398328031 |
595 | G>D | No |
ClinGen gnomAD |
|
|
CA398328039 rs1473319503 |
596 | D>N | No |
ClinGen gnomAD |
|
|
rs1311663510 CA398328074 |
597 | L>S | No |
ClinGen TOPMed |
|
|
CA8459627 rs755313232 |
599 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398328112 rs755313232 |
599 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8459628 rs755313232 |
599 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760813122 CA8459631 |
600 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760813122 CA398328124 |
600 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753859856 CA8459633 |
604 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA398328211 rs1377884054 |
604 | G>D | No |
ClinGen TOPMed |
|
|
CA398328237 rs1567605781 |
605 | S>F | No |
ClinGen Ensembl |
|
|
CA8459637 rs528722201 |
606 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 609 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200484835 CA8459639 |
612 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398328411 rs1243041021 |
614 | T>I | No |
ClinGen gnomAD |
|
|
rs779712699 CA8459641 |
615 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 617 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 620 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768443971 CA8459643 |
622 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8459648 rs760621039 |
626 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398328607 rs760621039 |
626 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759568205 CA8459652 |
627 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759568205 CA398328627 |
627 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753952625 CA289121553 |
627 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753952625 CA8459651 |
627 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398328703 rs1422635605 |
633 | G>S | No |
ClinGen TOPMed |
|
|
CA8459658 rs149539010 |
634 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8459659 COSM138093 rs149539010 |
634 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1221726877 CA398328720 |
634 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA398328759 rs1346251957 |
636 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748856308 CA8459660 |
637 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA398328791 rs1473902195 |
638 | L>F | No |
ClinGen gnomAD |
|
|
rs1253485606 CA398328861 |
642 | S>F | No |
ClinGen gnomAD |
|
|
rs747825809 CA398328909 |
645 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8459663 rs747825809 |
645 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs992167121 CA289121603 |
647 | L>P | No |
ClinGen Ensembl |
3 associated diseases with O15353
[MIM: 601705]: T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)
A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. {ECO:0000269|PubMed:10206641, ECO:0000269|PubMed:20978268, ECO:0000269|PubMed:21507891, ECO:0000269|PubMed:25173801, ECO:0000269|PubMed:28636882, ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618806]: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND)
An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. {ECO:0000269|PubMed:31447097}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 242700]: T-cell immunodeficiency with thymic aplasia (TIDTA)
An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. {ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. {ECO:0000269|PubMed:10206641, ECO:0000269|PubMed:20978268, ECO:0000269|PubMed:21507891, ECO:0000269|PubMed:25173801, ECO:0000269|PubMed:28636882, ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. {ECO:0000269|PubMed:31447097}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. {ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| blood vessel morphogenesis | The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| hair follicle development | The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. |
| keratinocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. |
| lymphoid lineage cell migration into thymus | The movement of a lymphoid lineage cell (also called a lymphoid lineage restricted progenitor cell) into the thymus. Lymphoid lineage cells enter and exit the thymus several times as part of this process. |
| nail development | The process whose specific outcome is the progression of a nail over time, from its formation to the mature structure. A nail is a horn-like envelope covering the outer end of a finger or toe, and consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. [GOC:bf, ISBN:0323025781, UBERON:0001705, Wikipedia:Nail_(anatomy)] |
| positive regulation of epithelial cell differentiation | Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. |
| positive regulation of hair follicle development | Any process that activates or increases the frequency, rate or extent of hair follicle development. |
| regulation of positive thymic T cell selection | Any process that modulates the frequency, rate or extent of positive thymic T cell selection. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| T cell homeostasis | The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| T cell lineage commitment | The process in which a lymphoid progenitor cell becomes committed to becoming any type of T cell. |
| thymus epithelium morphogenesis | The process in which the thymus epithelium is generated and organized. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32031 | slp2 | Fork head domain transcription factor slp2 | Drosophila melanogaster (Fruit fly) | PR |
| Q08050 | FOXM1 | Forkhead box protein M1 | Homo sapiens (Human) | EV |
| Q12948 | FOXC1 | Forkhead box protein C1 | Homo sapiens (Human) | PR |
| Q96NZ1 | FOXN4 | Forkhead box protein N4 | Homo sapiens (Human) | PR |
| Q61572 | Foxc1 | Forkhead box protein C1 | Mus musculus (Mouse) | PR |
| O08696 | Foxm1 | Forkhead box protein M1 | Mus musculus (Mouse) | PR |
| Q8K3Q3 | Foxn4 | Forkhead box protein N4 | Mus musculus (Mouse) | PR |
| P97691 | Foxm1 | Forkhead box protein M1 | Rattus norvegicus (Rat) | PR |
| Q28H65 | foxn5 | Forkhead box protein N5 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A2BGM5 | foxn4 | Forkhead box protein N4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSLPPPQSD | VTLPGPTRLE | GERQGDLMQA | PGLPGSPAPQ | SKHAGFSCSS | FVSDGPPERT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSLPPHSPRI | ASPGPEQVQG | HCPAGPGPGP | FRLSPSDKYP | GFGFEEAAAS | SPGRFLKGSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| APFHPYKRPF | HEDVFPEAET | TLALKGHSFK | TPGPLEAFEE | IPVDVAEAEA | FLPGFSAEAW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CNGLPYPSQE | HGPQVLGSEV | KVKPPVLESG | AGMFCYQPPL | QHMYCSSQPP | FHQYSPGGGS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YPIPYLGSSH | YQYQRMAPQA | STDGHQPLFP | KPIYSYSILI | FMALKNSKTG | SLPVSEIYNF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MTEHFPYFKT | APDGWKNSVR | HNLSLNKCFE | KVENKSGSSS | RKGCLWALNP | AKIDKMQEEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QKWKRKDPIA | VRKSMAKPEE | LDSLIGDKRE | KLGSPLLGCP | PPGLSGSGPI | RPLAPPAGLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PPLHSLHPAP | GPIPGKNPLQ | DLLMGHTPSC | YGQTYLHLSP | GLAPPGPPQP | LFPQPDGHLE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRAQPGTPQD | SPLPAHTPPS | HSAKLLAEPS | PARTMHDTLL | PDGDLGTDLD | AINPSLTDFD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FQGNLWEQLK | DDSLALDPLV | LVTSSPTSSS | MPPPQPPPHC | FPPGPCLTET | GSGAGDLAAP |
| 610 | 620 | 630 | 640 | ||
| GSGGSGALGD | LHLTTLYSAF | MELEPTPPTA | PAGPSVYLSP | SSKPVALA |