Q02556
PR
Gene name |
IRF8 |
Protein name |
Interferon regulatory factor 8 |
Names |
IRF-8, Interferon consensus sequence-binding protein, H-ICSBP, ICSBP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3394 |
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
1 structures for Q02556
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q02556-F1 | Predicted | AlphaFoldDB |
365 variants for Q02556
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8216726 RCV001297959 rs759579543 |
9 | R>W | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397000142 RCV001036891 rs764958679 |
15 | I>M | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397000176 rs1597249015 RCV001345765 |
20 | S>G | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212056 rs1904878101 |
24 | P>A | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1904879589 RCV001206359 |
34 | S>N | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818680 CA397000486 rs1597251890 |
62 | V>I | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA144516 COSM3728115 VAR_070084 rs397514711 RCV000050230 |
80 | T>A | Variant assessed as Somatic; impact. Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency haematopoietic_and_lymphoid_tissue IMD32A; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001036021 rs1905075639 |
80 | T>R | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1581063 rs145048966 RCV000908730 CA8216795 |
96 | T>M | Immunodeficiency 32B haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA285717245 COSM559444 rs34712374 RCV001212474 |
97 | D>N | lung Variant assessed as Somatic; impact. Immunodeficiency 32B [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000050229 VAR_070085 CA144514 rs397514710 |
108 | K>E | Immunodeficiency 32B IMD32B; in resting macrophages, no effect on cytoplasmic subcellular localization; loss of nuclear subcellular localization upon IFN-gamma induction; decreased protein abundance; increased proteasome-dependent degradation; increased ubiquitination and sumoylation; loss of transcriptional repressor activity; loss of IRF1-dependent transcriptional repressor activity; loss of IRF1-dependent transcriptional activator activity; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs371942842 COSM1380274 RCV001239991 CA8216805 |
111 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Immunodeficiency 32B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8216841 rs138854374 RCV000652536 |
124 | V>M | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1905145046 RCV001346656 |
133 | V>A | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652524 CA397001035 rs1555509293 |
136 | M>V | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs8052064 RCV000652523 CA8216851 |
138 | C>W | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8216852 RCV000899478 rs138032891 |
139 | G>S | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810837 CA8216856 RCV000482148 rs372863612 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 32B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001221642 rs755978434 CA8216862 |
145 | E>K | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1212356919 RCV001048840 |
162 | S>R | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1363457499 RCV001341669 CA397001225 |
162 | S>T | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769456462 RCV000799897 CA8216898 |
170 | R>G | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296035 rs1905198107 |
183 | S>G | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224391 CA8216949 rs140514602 |
190 | T>M | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 32B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs768395792 CA8216957 RCV001046301 |
197 | A>V | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1905239908 RCV001221483 |
199 | H>missing | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193620 CA8217014 RCV000656479 rs144424711 RCV000557109 RCV001200602 |
201 | A>V | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1427371180 CA397001536 RCV001038711 |
207 | I>M | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774835569 RCV001242309 CA8217026 RCV000656480 |
224 | P>L | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8217030 rs760910506 RCV001228047 |
225 | E>K | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148746145 RCV001706702 CA285734031 RCV000685109 |
228 | R>C | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001060820 rs1461824464 CA397001752 |
238 | G>D | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs142267779 RCV000652534 RCV001528410 CA8217040 |
242 | Y>H | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8217046 rs773747033 RCV001233154 |
251 | R>C | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1242802767 RCV001299668 CA397001829 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 32B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002554845 RCV001092202 CA8217060 rs774034337 |
267 | T>M | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397002030 RCV001053683 rs1310418248 |
283 | S>T | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8217077 RCV000652525 rs28368114 |
287 | V>M | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8217106 rs202046728 RCV000585057 RCV001088823 |
328 | F>V | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8217140 rs369499000 RCV001224778 |
335 | Y>C | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652526 rs36085113 CA8217146 |
344 | G>S | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771773479 CA8217157 RCV000688939 |
361 | R>C | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001297326 rs1905497880 |
361 | R>H | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824387 rs1597257806 CA397002574 |
365 | I>V | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774733201 RCV001065348 CA8217206 |
375 | R>W | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754985499 RCV001233722 CA8217213 |
387 | A>S | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000652527 rs1555510153 |
390 | V>missing | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345307 rs1905549108 |
394 | P>missing | Immunodeficiency 32B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702511 CA397002778 rs1567479042 |
395 | E>A | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756665891 RCV000797558 CA8217219 |
397 | P>T | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8217224 COSM253746 RCV001050530 rs748501841 |
404 | R>W | urinary_tract Immunodeficiency 32B [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA285737364 RCV001236028 rs901780905 |
415 | R>I | Immunodeficiency 32B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000707337 rs1567479117 RCV001027585 CA891843544 RCV001766566 |
427 | V>L | Immunodeficiency 32B Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886039596 RCV000255394 CA10588628 |
3 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766524400 CA8216724 |
4 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA16620277 RCV000480436 rs1064796262 |
4 | R>W | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA8216725 rs201464467 |
7 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA285711330 rs762945281 |
8 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762945281 CA397000098 |
8 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397000096 rs1293439667 |
8 | R>W | No |
ClinGen gnomAD |
|
|
rs1192543113 CA397000113 |
11 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA397000119 rs1388876338 |
12 | Q>L | No |
ClinGen TOPMed |
|
|
rs1597248993 CA397000124 |
13 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597248997 CA397000137 |
15 | I>V | No |
ClinGen Ensembl |
|
|
CA397000147 rs1452914312 |
16 | E>G | No |
ClinGen gnomAD |
|
|
CA397000143 rs1347366121 |
16 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA397000163 rs1173576430 |
18 | I>T | No |
ClinGen gnomAD |
|
|
CA397000170 rs1391251618 |
19 | D>G | No |
ClinGen gnomAD |
|
|
rs377070739 CA8216729 |
20 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396151109 CA397000193 |
22 | M>I | No |
ClinGen TOPMed |
|
|
rs751261768 CA285711351 |
22 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751261768 CA8216731 |
22 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8216732 rs370086181 |
23 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA285711367 rs914225825 |
27 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8216739 rs772616220 |
30 | N>K | No |
ClinGen ExAC TOPMed |
|
|
CA8216737 rs779381872 |
30 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8216736 rs779381872 |
30 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs747326308 CA8216740 COSM974538 |
32 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8216741 rs770905943 |
33 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8216742 rs200775854 |
34 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397000282 rs1215205167 |
35 | M>I | No |
ClinGen gnomAD |
|
|
rs140921131 CA8216743 |
35 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763570356 CA285711428 |
35 | M>V | No |
ClinGen gnomAD |
|
|
rs1250694242 CA397000294 |
37 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 51 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397000409 rs1167377783 |
53 | D>H | No |
ClinGen gnomAD |
|
|
rs1329459790 CA397000417 |
54 | A>S | No |
ClinGen TOPMed |
|
|
CA8216745 rs775453097 |
56 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364266041 CA397000444 |
58 | K>E | No |
ClinGen TOPMed |
|
|
rs1474894975 CA397000466 |
59 | A>S | No |
ClinGen gnomAD |
|
|
rs758991256 CA8216773 |
61 | A>G | No |
ClinGen ExAC |
|
|
CA8216774 rs777937264 |
62 | V>A | No |
ClinGen ExAC |
|
| TCGA novel | 65 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338775218 CA397000510 |
65 | G>V | No |
ClinGen TOPMed |
|
|
rs781442460 CA8216778 |
66 | K>N | No |
ClinGen ExAC |
|
|
rs757607650 CA8216777 |
66 | K>Q | No |
ClinGen ExAC |
|
|
CA8216779 rs746153058 |
67 | F>L | No |
ClinGen ExAC |
|
|
CA8216781 rs780120102 |
70 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs749156548 CA8216782 |
71 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1402618760 CA397000547 |
71 | D>N | No |
ClinGen gnomAD |
|
|
rs768669423 CA8216783 |
72 | K>N | No |
ClinGen ExAC |
|
|
rs761647639 CA8216785 |
73 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA397000562 rs761647639 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771805067 CA8216786 |
73 | A>V | No |
ClinGen ExAC |
|
|
CA8216790 rs79518337 |
74 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760464695 CA8216789 |
74 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760464695 CA8216788 |
74 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs922368153 CA397000585 |
77 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs922368153 CA285717213 |
77 | T>S | No |
ClinGen TOPMed gnomAD |
|
| VAR_036490 | 81 | R>K | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA397000622 rs1333675827 |
82 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763333317 CA8216791 |
83 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764636779 CA8216792 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1348996824 CA397000652 |
87 | N>D | No |
ClinGen gnomAD |
|
|
CA397000681 rs1597251983 |
91 | D>H | No |
ClinGen Ensembl |
|
|
CA397000699 rs1597251986 |
93 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597251992 CA397000725 |
97 | D>A | No |
ClinGen Ensembl |
|
|
rs756331900 CA8216797 |
98 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8216799 rs573204404 |
101 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395494815 CA397000762 |
103 | I>F | No |
ClinGen gnomAD |
|
|
CA8216802 rs748103332 |
107 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA397000801 rs1177789656 COSM974539 |
109 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA397000815 rs1430311441 |
111 | R>G | No |
ClinGen gnomAD |
|
|
rs371942842 CA8216804 |
111 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941328654 CA285717354 |
113 | V>L | No |
ClinGen TOPMed |
|
|
CA8216807 rs770743217 |
117 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759051735 CA8216808 |
120 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs145943537 CA8216839 |
121 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397000953 rs1360555845 |
122 | L>P | No |
ClinGen gnomAD |
|
|
rs1399904643 CA397000959 |
123 | G>A | No |
ClinGen gnomAD |
|
|
CA397000961 rs138854374 |
124 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8216842 rs757116654 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1435382258 CA397000975 |
126 | T>S | No |
ClinGen gnomAD |
|
|
rs769356293 CA8216845 |
130 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA285719702 rs867018516 |
131 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8216846 rs779577615 |
132 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748716740 CA8216847 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA285719739 rs1046132786 |
134 | T>I | No |
ClinGen TOPMed |
|
|
CA8216848 rs376865839 |
136 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773694139 CA285719761 CA397001048 |
137 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752999095 CA8216855 |
140 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752999095 CA397001062 |
140 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1412937994 CA397001069 |
141 | S>F | No |
ClinGen gnomAD |
|
|
CA8216857 rs764339986 |
141 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA397001077 rs1597253275 |
142 | E>D | No |
ClinGen Ensembl |
|
|
rs751479059 CA8216858 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8216860 rs780993490 |
144 | D>N | No |
ClinGen ExAC |
|
|
rs139493882 CA8216864 |
147 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8216863 rs779551389 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778397229 CA8216866 |
148 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1453162618 CA397001139 |
150 | P>R | No |
ClinGen gnomAD |
|
|
CA397001145 rs1287628750 |
151 | S>C | No |
ClinGen TOPMed |
|
|
rs139986397 CA8216889 |
154 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8216890 rs776013035 |
154 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399913060 CA397001177 |
156 | M>L | No |
ClinGen gnomAD |
|
|
CA397001198 rs1368461271 |
158 | M>I | No |
ClinGen gnomAD |
|
|
rs1363457499 CA397001224 |
162 | S>N | No |
ClinGen gnomAD |
|
|
rs769033917 CA8216893 |
165 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149439061 CA8216896 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397001260 rs1450189378 |
168 | A>T | No |
ClinGen gnomAD |
|
|
rs1198799284 CA397001270 |
169 | C>S | No |
ClinGen gnomAD |
|
|
rs200427807 CA8216900 |
170 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769456462 CA8216899 |
170 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422967478 CA397001299 COSM704509 |
174 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1462189724 CA397001304 |
175 | P>S | No |
ClinGen gnomAD |
|
|
CA397001311 rs1167301439 |
176 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397001321 rs1392035627 |
177 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs899829306 CA285721236 |
179 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8216903 rs752392237 |
180 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA285721266 rs1033015653 |
180 | Q>H | No |
ClinGen TOPMed |
|
|
rs757846633 CA8216904 |
180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs777345403 CA8216905 |
181 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA397001351 rs750840460 |
181 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs892689261 CA285721294 |
182 | P>L | No |
ClinGen gnomAD |
|
|
rs767204633 CA8216943 |
186 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA397001396 rs755555074 |
187 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8216946 rs755555074 |
187 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8216945 rs755555074 |
187 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140514602 CA8216950 |
190 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8216954 rs376705932 |
193 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775333449 CA8216955 |
193 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775333449 CA397001428 |
193 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs879093533 CA285722905 |
195 | Y>H | No |
ClinGen Ensembl |
|
|
rs1464758366 CA397001445 |
196 | D>N | No |
ClinGen gnomAD |
|
|
CA397001451 COSM33551 VAR_036491 rs1372132995 |
197 | A>T | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
CA8216958 rs774048246 |
198 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1228334774 CA397001467 |
199 | H>R | No |
ClinGen gnomAD |
|
|
CA397001464 rs1330604246 |
199 | H>Y | No |
ClinGen gnomAD |
|
|
rs1253140691 CA397001478 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs778971066 CA8217016 |
202 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs758259189 CA8217018 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752736280 CA8217017 |
206 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA397001544 rs1567477099 |
208 | S>R | No |
ClinGen Ensembl |
|
|
CA285733981 rs774613883 |
213 | G>A | No |
ClinGen Ensembl |
|
|
CA397001602 rs1467360615 |
216 | V>M | No |
ClinGen gnomAD |
|
|
rs780940426 CA8217022 |
218 | Q>H | No |
ClinGen ExAC |
|
|
rs1441582089 CA397001630 |
219 | A>D | No |
ClinGen gnomAD |
|
|
CA397001636 rs1597256641 |
220 | T>P | No |
ClinGen Ensembl |
|
|
CA397001649 rs1365396068 |
221 | T>I | No |
ClinGen gnomAD |
|
|
CA397001648 rs1365396068 |
221 | T>S | No |
ClinGen gnomAD |
|
|
CA285734003 rs867075236 |
222 | T>N | No |
ClinGen Ensembl |
|
|
rs1597256650 CA397001653 |
222 | T>P | No |
ClinGen Ensembl |
|
|
CA8217025 rs769407228 |
224 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366430755 CA397001697 |
228 | R>H | No |
ClinGen gnomAD |
|
|
CA8217031 rs766477043 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759520672 CA397001728 CA397001729 |
233 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776961095 CA397001727 |
233 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8217032 rs776961095 |
233 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8217034 rs765476821 |
235 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs752611388 CA8217035 |
236 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs763945332 CA8217038 |
238 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397001751 rs763945332 |
238 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8217037 rs763945332 COSM339952 |
238 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8217039 rs375458441 |
239 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375458441 CA397001758 |
239 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8217042 rs755554608 |
244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745602508 CA8217041 |
244 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1277105692 CA397001790 |
245 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1277105692 CA397001791 |
245 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1335070725 CA397001798 |
246 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA397001803 rs1261942201 |
246 | G>V | No |
ClinGen TOPMed |
|
|
rs1597256733 CA397001818 |
249 | L>R | No |
ClinGen Ensembl |
|
|
CA8217045 rs772597014 |
249 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771384589 CA8217048 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775730870 CA8217052 |
256 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775730870 CA8217053 |
256 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8217056 rs757001229 |
257 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751576714 CA8217055 |
257 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1361903859 CA397001868 |
258 | I>V | No |
ClinGen gnomAD |
|
|
CA397001887 rs376692640 |
260 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM303880 CA397001888 rs1297028658 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA397001897 rs1355753577 |
262 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 263 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449730697 CA397001904 |
263 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749986122 CA8217058 |
266 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs755787508 CA8217059 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8217063 COSM974542 rs778129733 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754529909 CA8217062 |
268 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235535717 CA397001960 |
272 | G>E | No |
ClinGen gnomAD |
|
|
rs1905412024 RCV001172293 |
272 | G>R | No |
ClinVar dbSNP |
|
|
CA397001986 rs1158926419 |
276 | R>C | No |
ClinGen gnomAD |
|
|
CA8217067 rs746036448 |
276 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310226478 CA397001991 |
277 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1597256807 CA397002000 |
278 | V>G | No |
ClinGen Ensembl |
|
|
rs1157572044 CA397001997 |
278 | V>L | No |
ClinGen gnomAD |
|
|
rs1157572044 CA397001995 |
278 | V>M | No |
ClinGen gnomAD |
|
|
rs775906478 CA8217069 |
279 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768927767 CA8217071 |
282 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs370022572 CA8217072 |
284 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397002033 rs767169156 |
284 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8217074 rs767169156 |
284 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370022572 CA8217073 |
284 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397002050 rs28368114 |
287 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397002058 rs1442047225 |
288 | F>S | No |
ClinGen gnomAD |
|
|
CA8217079 rs202107230 COSM3402529 |
289 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA397002062 rs202107230 |
289 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397002071 rs1363516045 |
290 | K>R | No |
ClinGen TOPMed |
|
|
CA8217081 rs751949620 |
292 | L>R | No |
ClinGen ExAC |
|
|
rs1177883312 CA397002102 |
295 | G>S | No |
ClinGen gnomAD |
|
|
rs1377715288 CA397002108 |
296 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA397002109 rs1408985036 |
296 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 296 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1003823910 CA285734394 |
299 | C>G | No |
ClinGen gnomAD |
|
|
CA397002136 rs1332497689 |
300 | S>N | No |
ClinGen gnomAD |
|
|
CA285734415 rs945535357 |
301 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8217086 rs780424115 |
303 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8217088 rs371253181 |
304 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8217089 rs774512853 |
308 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772016377 CA8217091 |
310 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8217093 rs760447497 |
311 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA397002218 rs1434809477 |
313 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8217095 rs753421098 |
315 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA397002235 rs753421098 |
315 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1207621165 CA397002248 |
317 | E>G | No |
ClinGen TOPMed |
|
|
CA8217096 rs759196494 |
318 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759196494 CA397002252 |
318 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8217097 rs764598769 |
320 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8217098 rs752281339 |
321 | V>F | No |
ClinGen ExAC |
|
|
rs756483517 CA8217102 |
323 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs575823888 CA8217101 |
323 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749472608 CA8217104 |
324 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA397002307 rs1330330947 |
326 | Q>H | No |
ClinGen TOPMed |
|
|
rs768955460 CA8217105 |
326 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs202046728 CA397002317 |
328 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397002325 rs1316275686 |
329 | R>* | No |
ClinGen gnomAD |
|
|
CA397002326 rs1217850601 |
329 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397002348 rs1394142597 |
330 | E>D | No |
ClinGen gnomAD |
|
|
CA397002369 rs1325141025 |
333 | Q>H | No |
ClinGen TOPMed |
|
|
rs369499000 CA397002381 |
335 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8217139 rs761450784 |
335 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs997972028 CA285736115 |
338 | Q>R | No |
ClinGen TOPMed |
|
|
rs1352249207 CA397002411 |
339 | G>V | No |
ClinGen gnomAD |
|
|
rs765523642 CA397002413 |
340 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8217144 rs375352812 |
340 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765523642 CA8217143 COSM1563458 |
340 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA397002429 rs1474391549 |
343 | D>N | No |
ClinGen TOPMed |
|
|
rs747057908 CA8217147 |
345 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8217148 rs757374960 |
346 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA397002448 rs1208994122 |
346 | V>M | No |
ClinGen TOPMed |
|
|
rs1378564440 CA397002456 |
347 | V>G | No |
ClinGen gnomAD |
|
|
CA8217149 rs781106355 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139170705 CA8217150 |
354 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769576986 CA8217151 |
355 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216626084 CA397002515 |
356 | D>N | No |
ClinGen TOPMed |
|
|
CA397002525 rs1270074184 |
357 | M>T | No |
ClinGen TOPMed |
|
|
CA397002530 rs1448910180 |
358 | A>T | No |
ClinGen gnomAD |
|
|
CA397002535 rs1306912959 |
358 | A>V | No |
ClinGen gnomAD |
|
|
rs768392843 CA8217154 |
359 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA397002541 rs1262372917 |
360 | L>M | No |
ClinGen Ensembl |
|
|
CA397002549 rs771773479 |
361 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397002563 rs1370725029 |
363 | K>R | No |
ClinGen TOPMed |
|
|
CA397002580 rs765588362 |
366 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765588362 CA8217160 |
366 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397002585 rs1200900321 |
367 | V>M | No |
ClinGen gnomAD |
|
|
CA8217163 rs764276050 |
368 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs751834077 CA8217164 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1292712320 CA397002617 |
370 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397002636 rs1221891034 |
372 | L>R | No |
ClinGen gnomAD |
|
|
rs770530127 CA8217202 |
373 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749812274 CA8217204 |
374 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372592381 CA8217207 |
375 | R>Q | Variant assessed as Somatic; 9.292e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773542186 CA8217209 |
379 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs760669482 CA397002687 |
381 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8217210 rs760669482 |
381 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA285737244 rs956232894 |
384 | S>N | No |
ClinGen TOPMed |
|
|
CA397002710 rs1449299927 |
384 | S>R | No |
ClinGen gnomAD |
|
|
CA8217214 rs568111419 |
387 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397002726 rs754985499 |
387 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758262133 CA8217216 |
388 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397002734 rs1203457296 |
388 | G>V | No |
ClinGen gnomAD |
|
|
CA397002767 rs1283912318 |
393 | A>D | No |
ClinGen gnomAD |
|
|
CA8217218 rs746741171 |
395 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025926878 CA285737286 |
397 | P>L | No |
ClinGen TOPMed |
|
|
CA397002792 rs1025926878 |
397 | P>Q | No |
ClinGen TOPMed |
|
|
rs756665891 CA285737281 |
397 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749756916 CA8217221 |
398 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285737313 rs955254231 |
398 | P>S | No |
ClinGen Ensembl |
|
|
rs910181916 CA285737315 |
399 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8217223 rs774892491 |
401 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs772557507 CA8217225 |
404 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567479072 CA397002841 |
405 | M>I | No |
ClinGen Ensembl |
|
|
rs1336576908 CA397002835 |
405 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397002870 rs1487726143 |
409 | I>T | No |
ClinGen TOPMed |
|
|
rs1452569476 CA397002876 |
410 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA397002883 rs1310710585 |
411 | A>S | No |
ClinGen gnomAD |
|
|
rs1379760258 CA397002886 |
411 | A>V | No |
ClinGen gnomAD |
|
|
CA397002895 rs1279012687 |
413 | H>Y | No |
ClinGen gnomAD |
|
|
rs1346006665 CA397002914 |
415 | R>S | No |
ClinGen gnomAD |
|
|
COSM1709484 rs1221114403 CA397002918 |
416 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA397002926 rs1300472950 |
417 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 421 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397002964 rs1218757776 |
422 | Q>R | No |
ClinGen TOPMed |
|
|
rs1199023357 CA397002988 |
425 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q02556
12 regional properties for Q02556
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 592 - 651 | IPR001611-1 |
| repeat | Leucine-rich repeat | 662 - 707 | IPR001611-2 |
| repeat | Leucine-rich repeat | 709 - 766 | IPR001611-3 |
| repeat | Leucine-rich repeat, typical subtype | 590 - 613 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 614 - 636 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 638 - 660 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 661 - 684 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 685 - 706 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 707 - 730 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 731 - 751 | IPR003591-7 |
| repeat | Leucine-rich repeat, typical subtype | 753 - 776 | IPR003591-8 |
| domain | LRRC8, pannexin-like TM region | 1 - 340 | IPR021040 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| defense response to protozoan | Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism. |
| dendritic cell differentiation | The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. |
| follicular B cell differentiation | The process in which a B cell in the spleen acquires the specialized features of a follicular B cell. Follicular B cells are major population of mature recirculating B cells in the spleen and are located in the B-cell follicle region. |
| germinal center B cell differentiation | The process in which a B cell in the spleen acquires the specialized features of a germinal center B cell. Germinal center B cells are rapidly cycling B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA). |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| myeloid cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
| plasmacytoid dendritic cell differentiation | The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a plasmacytoid dendritic cell. |
| positive regulation of interferon-gamma production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of type I interferon production | Any process that modulates the frequency, rate, or extent of interferon type I production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90871 | IRF8 | Interferon regulatory factor 8 | Gallus gallus (Chicken) | PR |
| Q00978 | IRF9 | Interferon regulatory factor 9 | Homo sapiens (Human) | PR |
| Q13568 | IRF5 | Interferon regulatory factor 5 | Homo sapiens (Human) | EV |
| Q15306 | IRF4 | Interferon regulatory factor 4 | Homo sapiens (Human) | SS |
| Q14653 | IRF3 | Interferon regulatory factor 3 | Homo sapiens (Human) | EV |
| Q92985 | IRF7 | Interferon regulatory factor 7 | Homo sapiens (Human) | EV |
| P23611 | Irf8 | Interferon regulatory factor 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCDRNGGRRL | RQWLIEQIDS | SMYPGLIWEN | EEKSMFRIPW | KHAGKQDYNQ | EVDASIFKAW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVFKGKFKEG | DKAEPATWKT | RLRCALNKSP | DFEEVTDRSQ | LDISEPYKVY | RIVPEEEQKC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLGVATAGCV | NEVTEMECGR | SEIDELIKEP | SVDDYMGMIK | RSPSPPEACR | SQLLPDWWAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPSTGVPLVT | GYTTYDAHHS | AFSQMVISFY | YGGKLVGQAT | TTCPEGCRLS | LSQPGLPGTK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LYGPEGLELV | RFPPADAIPS | ERQRQVTRKL | FGHLERGVLL | HSSRQGVFVK | RLCQGRVFCS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GNAVVCKGRP | NKLERDEVVQ | VFDTSQFFRE | LQQFYNSQGR | LPDGRVVLCF | GEEFPDMAPL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RSKLILVQIE | QLYVRQLAEE | AGKSCGAGSV | MQAPEEPPPD | QVFRMFPDIC | ASHQRSFFRE |
| NQQITV |