P49711
PR
Gene name |
CTCF |
Protein name |
Transcriptional repressor CTCF |
Names |
11-zinc finger protein, CCCTC-binding factor, CTCFL paralog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10664 |
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
22 structures for P49711
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X6H | NMR | - | A | 515-587 | PDB |
| 2CT1 | NMR | - | A | 399-462 | PDB |
| 5K5H | X-ray | 311 A | A | 348-464 | PDB |
| 5K5I | X-ray | 219 A | A | 378-489 | PDB |
| 5K5J | X-ray | 229 A | A | 378-489 | PDB |
| 5K5L | X-ray | 312 A | E/F/G | 405-492 | PDB |
| 5KKQ | X-ray | 174 A | A/D | 321-465 | PDB |
| 5T00 | X-ray | 219 A | A/D | 321-465 | PDB |
| 5T0U | X-ray | 320 A | A/D | 294-465 | PDB |
| 5UND | X-ray | 255 A | A/B | 348-547 | PDB |
| 5YEF | X-ray | 281 A | A/B/G/J | 292-490 | PDB |
| 5YEG | X-ray | 200 A | PDB | ||
| 5YEH | X-ray | 233 A | A/B | 349-490 | PDB |
| 5YEL | X-ray | 296 A | A/B | 405-580 | PDB |
| 6QNX | X-ray | 270 A | C | 1-727 | PDB |
| 7W1M | EM | 650 A | H | 1-727 | PDB |
| 8SSQ | X-ray | 312 A | A/D | 319-606 | PDB |
| 8SSR | X-ray | 314 A | A/D | 319-606 | PDB |
| 8SSS | X-ray | 230 A | A/D | 263-465 | PDB |
| 8SST | X-ray | 219 A | A/D | 263-465 | PDB |
| 8SSU | X-ray | 289 A | A | 320-582 | PDB |
| AF-P49711-F1 | Predicted | AlphaFoldDB |
397 variants for P49711
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1555534067 CA396301453 RCV000624812 |
25 | Y>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252212 rs2052054114 |
46 | D>N | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052056277 RCV001260747 |
94 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052056554 RCV001332782 |
105 | E>K | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052056650 RCV001293705 |
111 | G>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074333 rs879255570 |
126 | V>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333551 rs2052059839 |
180 | Q>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623884 RCV001783119 rs1555534147 |
206 | K>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333552 rs1390969954 CA396306993 |
213 | R>H | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000767531 rs1567608876 |
258 | K>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265578 rs2052063931 |
260 | K>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052068318 RCV001333553 |
266 | F>L | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681644 CA396309112 rs1567609067 |
283 | R>H | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001780240 rs2052068772 RCV001305144 |
294 | H>P | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1161257134 RCV001254150 |
320 | R>G | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249458 rs2052136913 |
327 | C>R | CTCF-Related Disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622747 CA396312181 rs1555534827 |
338 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001199945 rs1567610917 CA396312196 RCV000730247 |
339 | R>Q | Variant assessed as Somatic; impact. Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM194431 RCV001253429 CA396312251 RCV000494182 rs1131691283 |
342 | R>C | large_intestine Variant assessed as Somatic; impact. Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001260748 rs2052138115 |
353 | C>G | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597718106 RCV001264541 CA396312716 RCV000995749 |
360 | S>I | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267519 rs2052189777 |
372 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001784361 RCV000730410 CA283171481 COSM303879 rs968244943 |
377 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs879255571 RCV000074334 |
396 | R>missing | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396317165 RCV001002552 rs1597725291 |
455 | H>Q | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267615 rs2052290589 |
467 | K>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267310 CA396317575 rs1259626314 |
470 | R>H | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000623748 CA396318064 rs1555535739 |
486 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396318241 rs1555535747 RCV000622268 |
490 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001293758 rs2052291685 |
502 | Y>missing | Acute megakaryoblastic leukemia in down syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052320698 RCV001293760 |
547 | D>missing | Acute megakaryoblastic leukemia in down syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399425 VAR_070776 RCV000074335 CA10575614 RCV000413282 RCV002260512 rs879255516 |
567 | R>W | Variant assessed as Somatic; impact. Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Inborn genetic diseases CTCF-related syndromic intellectual disability MRD21 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs2052333197 RCV001333550 |
582 | G>V | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139828150 RCV001267533 CA8112765 |
591 | T>M | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2052334460 RCV001332781 |
609 | S>Y | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA207677 RCV000427860 RCV002314799 RCV000193895 rs145727304 RCV000989613 |
643 | P>S | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989614 rs200677445 CA396324369 |
664 | Q>* | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV002318105 rs201916739 CA8112854 |
697 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001266212 rs996780408 CA283190111 |
698 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs146712579 RCV001262922 |
713 | N>K | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8112449 rs767313565 |
3 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8112452 rs779609208 |
7 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396299727 rs1434204599 |
10 | V>A | No |
ClinGen TOPMed |
|
|
rs1597713391 CA396299845 |
13 | S>A | No |
ClinGen Ensembl |
|
|
rs1402646118 COSM4129212 CA396299872 |
14 | E>K | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1304440183 CA396301079 |
15 | T>I | No |
ClinGen TOPMed |
|
|
CA283163305 rs747821677 |
17 | I>T | No |
ClinGen Ensembl |
|
| VAR_079374 | 19 | G>del | found in an endometrial carcinoma sample; unknown pathological significance [UniProt] | No | UniProt |
|
rs368184700 CA8112455 |
22 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392062510 CA396301444 |
25 | Y>C | No |
ClinGen gnomAD |
|
|
rs772369151 CA8112457 |
28 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773609766 CA8112458 |
28 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771567232 CA8112460 |
29 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA283163363 rs990055512 |
31 | G>E | No |
ClinGen Ensembl |
|
|
rs759711695 TCGA novel CA8112463 |
32 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA8112462 rs759711695 |
32 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1430521429 CA396301679 |
32 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396301914 rs1474117347 |
39 | H>D | No |
ClinGen gnomAD |
|
|
rs201442177 CA283163407 |
40 | L>S | No |
ClinGen Ensembl |
|
|
CA8112464 rs775896161 |
40 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000503355 RCV000903346 rs369072233 CA8112465 |
41 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1257461389 CA396301977 |
41 | P>L | No |
ClinGen TOPMed |
|
|
rs1257461389 CA396301974 |
41 | P>R | No |
ClinGen TOPMed |
|
|
rs369072233 CA8112466 |
41 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750230442 CA8112467 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8112468 rs755800964 |
44 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8112469 rs766320761 |
44 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753730952 CA8112470 |
45 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324653386 CA396302102 |
46 | D>G | No |
ClinGen gnomAD |
|
|
rs778368665 CA396302121 |
47 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778368665 CA8112472 |
47 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs758063705 CA8112474 |
48 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs137861966 CA8112475 |
50 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777308398 CA8112478 |
52 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs770043507 CA8112480 |
53 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746346363 CA8112479 |
53 | D>V | No |
ClinGen ExAC |
|
| TCGA novel | 55 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283163577 rs763153202 |
57 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8112482 rs763153202 |
57 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8112483 rs764385283 |
57 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760579994 CA8112485 |
60 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | M>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928768152 CA283163600 |
62 | M>V | No |
ClinGen Ensembl |
|
|
CA8112489 rs759343386 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752391941 CA8112490 |
68 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA396302964 rs1313556040 |
70 | L>F | No |
ClinGen gnomAD |
|
|
rs1313556040 CA396302963 |
70 | L>V | No |
ClinGen gnomAD |
|
|
CA8112491 rs758045240 |
71 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA396303034 rs1413142440 |
72 | Q>H | No |
ClinGen gnomAD |
|
|
CA396303205 rs1232666885 |
77 | V>I | No |
ClinGen gnomAD |
|
|
rs991471293 CA283163669 |
78 | M>I | No |
ClinGen Ensembl |
|
|
rs1346046980 CA396303297 |
78 | M>T | No |
ClinGen Ensembl |
|
|
CA8112492 rs777316729 |
78 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751071798 CA8112493 |
79 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396303337 rs751071798 |
79 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757799120 CA8112494 |
83 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396303796 rs1280388149 |
92 | D>H | No |
ClinGen gnomAD |
|
|
rs1280388149 CA396303792 |
92 | D>N | No |
ClinGen gnomAD |
|
|
CA396304086 rs1254991314 |
102 | N>D | No |
ClinGen gnomAD |
|
|
rs768806511 CA8112500 |
103 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA396304113 rs1419322536 |
103 | M>V | No |
ClinGen gnomAD |
|
|
rs1555534093 RCV000598831 |
106 | Q>missing | No |
ClinVar dbSNP |
|
|
CA396304434 rs1438992915 |
110 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372457358 CA283163734 |
111 | G>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 114 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567608551 CA396304712 |
118 | V>I | No |
ClinGen Ensembl |
|
|
CA8112504 rs776556705 |
121 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396304804 rs1397398209 |
122 | V>M | No |
ClinGen gnomAD |
|
|
rs759539606 CA8112505 |
124 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA283163804 rs1055691697 |
124 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | V>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 127 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112508 rs762636381 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8112509 rs763685897 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396305045 rs1254912000 |
131 | V>I | No |
ClinGen gnomAD |
|
|
CA8112514 rs750959177 |
133 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457186969 CA396305190 |
135 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112517 rs749650039 |
139 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8112516 rs373823720 |
139 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396305378 rs1175444753 |
142 | V>L | No |
ClinGen gnomAD |
|
|
CA396305376 rs1175444753 |
142 | V>M | No |
ClinGen gnomAD |
|
|
rs768877983 CA8112518 |
143 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | K>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112520 rs748162324 |
146 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8112519 rs779020931 |
146 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs933470800 CA283163927 |
147 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1442040020 CA396305501 |
148 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112522 rs773340288 |
149 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA283163963 rs377709753 |
149 | E>K | No |
ClinGen ESP |
|
|
CA283163979 rs373511929 |
150 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 153 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396305630 rs1299974401 |
153 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112529 rs761623880 |
172 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1430339540 CA396306139 |
177 | T>A | No |
ClinGen gnomAD |
|
|
rs1191628394 CA396306147 |
178 | L>I | No |
ClinGen gnomAD |
|
|
RCV001310331 rs2052059784 |
179 | E>K | No |
ClinVar dbSNP |
|
|
rs1423115872 CA396306210 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
rs749999010 CA8112531 |
182 | E>K | No |
ClinGen ExAC |
|
|
rs766823310 CA8112533 |
186 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754178156 CA8112534 |
189 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8112535 rs754178156 |
189 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA396306495 rs1326763921 |
192 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597713906 CA396306553 |
194 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283164065 rs878885019 |
196 | D>H | No |
ClinGen Ensembl |
|
|
rs748358750 CA8112537 |
199 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1383354040 CA396306685 |
200 | P>R | No |
ClinGen gnomAD |
|
|
CA283164083 rs761761096 |
200 | P>S | No |
ClinGen Ensembl |
|
|
CA8112538 rs758670950 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567608758 CA396306727 |
202 | K>R | No |
ClinGen Ensembl |
|
|
RCV000398560 rs886041997 |
204 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 204 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866170521 CA283164100 |
204 | T>K | No |
ClinGen Ensembl |
|
| rs886041997 | 204 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303581636 CA396306775 |
204 | T>S | No |
ClinGen TOPMed |
|
| rs1555534147 | 206 | K>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777801225 CA8112539 |
208 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769722938 CA8112541 |
212 | L>V | No |
ClinGen ExAC |
|
|
CA396306985 rs1220590499 |
213 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8112543 rs749044800 |
215 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597713993 CA396307177 |
218 | G>D | No |
ClinGen Ensembl |
|
|
rs761703958 CA8112545 |
221 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1386847711 CA396307274 |
222 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112548 rs772804334 |
227 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370955794 CA8112549 |
232 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8112550 rs373979002 |
234 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478115407 CA396307874 |
240 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758579289 CA8112555 |
245 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777993880 CA8112556 |
246 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA396308102 rs1318657076 |
247 | G>V | No |
ClinGen gnomAD |
|
|
CA8112557 rs747052464 |
249 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1213153569 CA396308422 |
256 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112576 rs751726330 |
262 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444251593 CA396308903 |
274 | T>K | No |
ClinGen gnomAD |
|
|
VAR_079375 CA396308990 rs1266478000 |
278 | R>C | Variant assessed as Somatic; impact. found in an endometrial carcinoma sample; no effect on its nuclear localization; loss of its ability to inhibit cell proliferation; unknown pathological significance [NCI-TCGA, UniProt] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
rs779012125 CA8112581 |
278 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482345040 CA396309418 |
295 | K>* | No |
ClinGen Ensembl |
|
|
rs1296156443 CA396309666 |
306 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161257134 CA396311703 |
320 | R>S | No |
ClinGen gnomAD |
|
|
rs1380053952 CA396311728 |
321 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 322 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396311864 rs1300104380 |
325 | P>A | No |
ClinGen gnomAD |
|
|
RCV001269725 rs2052137160 |
335 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 335 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746853576 CA8112604 |
337 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA396312195 VAR_013141 COSM172950 rs1243010179 |
339 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine a Wilms' tumor [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000195202 CA209866 rs780911615 |
341 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA396312236 rs1486997074 |
341 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| VAR_079376 | 342 | R>H | found in an endometrial carcinoma sample; no effect on its nuclear localization; loss of its ability to inhibit cell proliferation; unknown pathological significance [UniProt] | No | UniProt |
|
rs1002125753 CA283168651 |
342 | R>L | No |
ClinGen TOPMed |
|
|
CA396312292 rs1215280530 VAR_013142 |
344 | K>E | a breast tumor [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
| TCGA novel | 344 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_013143 | 345 | H>R | a prostate tumor [UniProt] | No | UniProt |
|
rs1185134308 CA396312400 |
349 | K>E | No |
ClinGen gnomAD |
|
|
CA8112608 rs748828401 |
356 | C>* | No |
ClinGen ExAC |
|
|
rs1363179074 CA396312682 |
359 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_079377 | 365 | K>T | found in an endometrial carcinoma sample; no effect on its nuclear localization; no loss of its ability to inhibit cell proliferation; unknown pathological significance [UniProt] | No | UniProt |
| TCGA novel | 366 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM252457 rs1259610303 CA396314565 |
368 | R>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA396314559 RCV000523189 rs1555535156 |
368 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA396314780 rs1430928113 |
376 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555535157 CA396314783 RCV000523911 |
377 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8112636 rs759703905 |
378 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 380 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283171528 rs911815810 COSM1302132 |
388 | S>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8112640 rs750256116 |
390 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001212321 rs750256116 |
390 | D>Y | No |
ClinVar dbSNP |
|
| TCGA novel | 394 | L>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396315230 rs1198264156 |
398 | M>T | No |
ClinGen gnomAD |
|
|
RCV000255519 CA10588621 rs886039600 |
407 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2052198121 RCV001090441 |
407 | Y>H | No |
ClinVar dbSNP |
|
|
rs779815221 CA283172052 |
414 | A>S | No |
ClinGen Ensembl |
|
|
rs1319839645 CA396315840 |
414 | A>V | No |
ClinGen gnomAD |
|
|
CA396315996 rs1489290410 |
427 | L>S | No |
ClinGen gnomAD |
|
|
CA396315991 rs1286787707 |
427 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779697697 CA283172058 |
434 | V>E | No |
ClinGen Ensembl |
|
| TCGA novel | 440 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183964869 CA396316166 |
441 | H>N | No |
ClinGen gnomAD |
|
|
rs1339934756 CA396316171 |
441 | H>P | No |
ClinGen TOPMed |
|
|
CA8112670 rs746080386 |
443 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396316210 rs1423722405 |
444 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM972490 rs769948988 CA8112671 |
448 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| VAR_013144 | 448 | R>Q | a Wilms' tumor [UniProt] | No | UniProt |
| TCGA novel | 449 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs34679888 | 450 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382721633 CA396316295 |
452 | L>W | No |
ClinGen gnomAD |
|
|
CA396317313 rs1406671449 |
459 | Q>R | No |
ClinGen gnomAD |
|
|
CA396317404 rs1307544660 |
463 | I>T | No |
ClinGen TOPMed |
|
|
CA396317396 rs1177734699 |
463 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396317694 rs1469047711 |
474 | A>S | No |
ClinGen gnomAD |
|
|
CA396317876 rs1305124662 |
480 | Y>C | No |
ClinGen TOPMed |
|
|
rs1444552916 CA396317911 |
481 | A>V | No |
ClinGen gnomAD |
|
|
rs780149756 CA8112690 |
484 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA283175661 rs746921532 |
490 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8112695 rs770889045 |
494 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1456806292 CA396318496 |
498 | D>V | No |
ClinGen gnomAD |
|
|
rs775406577 CA8112719 |
511 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396320164 rs1597726687 |
516 | T>P | No |
ClinGen Ensembl |
|
|
COSM1378952 rs911362614 CA283177406 |
519 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs112271126 CA283177418 |
523 | Y>C | No |
ClinGen Ensembl |
|
|
CA8112724 RCV000996286 rs767996920 |
524 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA8112725 rs750885577 |
527 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761300040 CA8112726 |
528 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8112727 rs766626496 |
529 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283177461 rs201123106 |
529 | D>N | No |
ClinGen TOPMed |
|
|
CA396320433 rs1264795508 |
533 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 534 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 537 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112926498 CA283177491 COSM1519528 |
544 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA396320673 rs1436030657 |
544 | R>H | No |
ClinGen TOPMed |
|
|
CA283177504 rs147269638 |
547 | D>N | No |
ClinGen ESP |
|
|
rs758469698 CA8112732 |
548 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs184167883 CA8112734 |
551 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM194439 rs779672689 CA8112736 |
553 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000284751 rs886041901 |
556 | V>* | No |
ClinVar dbSNP |
|
| TCGA novel | 557 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM972498 CA396321066 rs1567616147 |
566 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs761621858 RCV000521064 CA396321079 |
567 | R>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs761621858 CA8112740 |
567 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 572 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 573 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 573 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8112762 rs747778387 |
578 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1201531549 CA396321645 |
580 | P>S | No |
ClinGen gnomAD |
|
|
rs771793540 CA8112763 |
583 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396321711 rs1248372591 |
585 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200498286 CA396321703 |
585 | G>R | No |
ClinGen gnomAD |
|
|
CA396321768 rs1405972345 |
588 | G>E | No |
ClinGen TOPMed |
|
|
CA152521 RCV000116844 rs587780324 |
590 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8112767 rs777121402 |
593 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA283178410 rs377088539 |
596 | R>C | No |
ClinGen ESP TOPMed |
|
|
rs760093869 CA8112768 |
596 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283178420 rs1012435511 |
597 | G>R | No |
ClinGen gnomAD |
|
|
CA283178438 rs975514363 |
601 | K>R | No |
ClinGen TOPMed |
|
|
rs775874494 CA8112770 COSM194440 |
603 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA396322018 rs775874494 |
603 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8112771 rs763046858 |
603 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764397875 CA8112772 |
604 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000485210 rs1064796062 |
605 | K>missing | No |
ClinVar dbSNP |
|
|
rs751533979 CA8112774 |
606 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283178467 rs887107866 |
607 | E>G | No |
ClinGen TOPMed |
|
|
CA396322083 rs1301439715 |
607 | E>K | No |
ClinGen gnomAD |
|
|
rs1332450944 CA396322175 |
612 | S>I | No |
ClinGen gnomAD |
|
|
CA283178470 rs1023363495 |
613 | E>* | No |
ClinGen Ensembl |
|
|
CA8112793 rs774627741 |
616 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767679068 CA396323395 |
621 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767679068 CA8112795 |
621 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264086135 CA396323413 |
623 | E>K | No |
ClinGen gnomAD |
|
|
rs1043397783 CA283188726 |
624 | D>N | No |
ClinGen TOPMed |
|
|
rs1261532627 CA396323451 |
625 | E>G | No |
ClinGen gnomAD |
|
|
rs1167480738 CA396323495 |
627 | E>D | No |
ClinGen gnomAD |
|
|
CA396323507 rs1383949671 |
628 | P>S | No |
ClinGen gnomAD |
|
|
rs1298738326 CA396323521 |
629 | A>P | No |
ClinGen TOPMed |
|
|
rs1360768454 CA396323551 |
630 | V>A | No |
ClinGen gnomAD |
|
|
rs761615218 CA8112798 |
630 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396323546 rs761615218 |
630 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283188762 rs35257000 |
631 | E>K | No |
ClinGen Ensembl |
|
|
rs1286865935 CA396323600 |
632 | I>T | No |
ClinGen gnomAD |
|
|
CA8112799 rs758212935 |
632 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 633 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396410914 COSM972509 CA396323782 |
638 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA396323803 rs1314705510 |
639 | Q>E | No |
ClinGen gnomAD |
|
|
RCV000658332 rs1555536759 |
640 | P>missing | No |
ClinVar dbSNP |
|
|
rs1245330550 CA396323865 |
641 | V>E | No |
ClinGen gnomAD |
|
|
CA396323855 rs1380495424 |
641 | V>M | No |
ClinGen gnomAD |
|
|
rs1319383325 CA396323885 |
642 | T>A | No |
ClinGen TOPMed |
|
|
CA8112801 rs145727304 |
643 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465441233 CA396323964 |
645 | P>L | No |
ClinGen TOPMed |
|
|
rs770226587 CA8112804 |
646 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377170408 CA8112803 |
646 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377170408 CA283188844 |
646 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749826586 CA8112806 |
648 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283188847 rs749826586 |
648 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168055109 CA396324037 |
649 | K>R | No |
ClinGen gnomAD |
|
|
CA283188890 rs890921910 |
651 | R>Q | No |
ClinGen TOPMed |
|
|
CA8112809 rs762060506 |
651 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8112811 rs540830865 |
659 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396324283 rs760844642 |
660 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597733372 CA396324291 |
660 | N>K | No |
ClinGen Ensembl |
|
|
COSM1644522 rs760844642 CA8112812 |
660 | N>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8112813 rs200677445 |
664 | Q>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs762851943 CA8112814 |
664 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1275809540 CA396324421 COSM558663 |
666 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8112815 rs763918566 |
667 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597734156 CA396325088 |
669 | A>G | No |
ClinGen Ensembl |
|
|
CA283189966 rs938774612 |
669 | A>T | No |
ClinGen TOPMed |
|
|
rs1488590619 CA396325099 |
670 | I>M | No |
ClinGen gnomAD |
|
|
CA8112843 rs755460552 |
670 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057185083 CA283189993 |
671 | I>T | No |
ClinGen TOPMed |
|
|
rs1209157275 CA396325105 |
671 | I>V | No |
ClinGen TOPMed |
|
|
CA396325150 rs1297841787 |
673 | V>A | No |
ClinGen TOPMed |
|
|
CA8112845 rs143508499 |
676 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283190029 rs950898068 |
677 | N>S | No |
ClinGen Ensembl |
|
|
rs772554947 CA8112846 |
678 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396325239 rs1335652668 |
678 | T>I | No |
ClinGen gnomAD |
|
|
CA8112847 rs778335254 |
679 | G>D | No |
ClinGen ExAC |
|
|
CA396325281 rs1328227521 |
681 | I>T | No |
ClinGen gnomAD |
|
|
CA396325273 rs1408200557 |
681 | I>V | No |
ClinGen gnomAD |
|
|
rs1350496559 CA396325284 |
682 | E>K | No |
ClinGen gnomAD |
|
|
rs1294165074 CA396325306 |
683 | N>K | No |
ClinGen TOPMed |
|
|
CA396325321 rs1406881801 |
685 | I>V | No |
ClinGen gnomAD |
|
|
CA396325346 rs1345133021 |
686 | V>D | No |
ClinGen gnomAD |
|
|
CA8112848 rs747206953 |
686 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA396325453 rs1597734233 |
691 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 691 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1400980130 | 691 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771089938 CA8112849 |
693 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA396325467 rs1396543145 |
693 | D>Y | No |
ClinGen TOPMed |
|
|
CA8112851 CA8112850 rs192327027 |
695 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8112852 rs768569242 |
696 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA283190113 rs1015307176 |
699 | G>E | No |
ClinGen gnomAD |
|
|
CA396325773 rs1167223790 |
706 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396325769 rs1167223790 |
706 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773026990 CA8112856 |
706 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1414455390 CA396325777 |
707 | A>P | No |
ClinGen gnomAD |
|
|
rs1258847823 CA396325816 |
708 | A>T | No |
ClinGen TOPMed |
|
|
rs765966955 CA8112858 |
708 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396325867 rs1365186127 |
710 | D>E | No |
ClinGen gnomAD |
|
|
CA396325865 rs1485569498 |
710 | D>V | No |
ClinGen TOPMed |
|
|
rs753328189 CA8112859 |
711 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325000694 CA396325887 |
712 | P>R | No |
ClinGen gnomAD |
|
|
CA8112860 rs754444529 |
712 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336970317 CA396325910 |
713 | N>S | No |
ClinGen TOPMed |
|
|
rs1385636609 CA396325929 |
714 | G>R | No |
ClinGen gnomAD |
|
|
rs1247514121 CA396326051 |
717 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8112864 rs747400958 |
720 | M>V | No |
ClinGen ExAC |
|
|
CA396326235 rs1414039107 |
724 | M>V | No |
ClinGen TOPMed |
|
|
rs1422302518 CA396326301 |
727 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1192224462 CA396326297 |
727 | R>W | No |
ClinGen gnomAD |
1 associated diseases with P49711
[MIM: 615502]: Intellectual developmental disorder, autosomal dominant 21 (MRD21)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay. {ECO:0000269|PubMed:23746550}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay. {ECO:0000269|PubMed:23746550}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for P49711
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger C2H2-type | 266 - 293 | IPR013087-1 |
| domain | Zinc finger C2H2-type | 294 - 321 | IPR013087-2 |
| domain | Zinc finger C2H2-type | 322 - 350 | IPR013087-3 |
| domain | Zinc finger C2H2-type | 351 - 378 | IPR013087-4 |
| domain | Zinc finger C2H2-type | 379 - 406 | IPR013087-5 |
| domain | Zinc finger C2H2-type | 407 - 435 | IPR013087-6 |
| domain | Zinc finger C2H2-type | 437 - 465 | IPR013087-7 |
| domain | Zinc finger C2H2-type | 467 - 494 | IPR013087-8 |
| domain | Zinc finger C2H2-type | 495 - 522 | IPR013087-9 |
| domain | Zinc finger C2H2-type | 523 - 546 | IPR013087-10 |
| domain | Zinc finger C2H2-type | 555 - 575 | IPR013087-11 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| condensed chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin insulator sequence binding | Interacting selectively and non-covalently and stoichiometrically with a chromatin insulator sequence, a DNA sequence that prevents enhancer-mediated activation or repression of transcription. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| 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 DNA binding | Binding to 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. |
| 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. |
| transcription coregulator binding | Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery. |
| zinc ion binding | Binding to a zinc ion (Zn). |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin looping | A chromatin organization process that starts with the loading of an extrusion motor (by an SMC family complex) onto the chromatin, followed by chromatin extrusion that stops at loop anchoring sites on the chromosome. |
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| DNA methylation | The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| genomic imprinting | The establishment of epigenetic modifications (imprints) during gametogenesis, leading to an asymmetry in the heterochromatin between the maternal and paternal alleles, and differential expression of the corresponding alleles. This asymmetry results from the different epigenetic pathways acting in maternal and paternal gametes. |
| maintenance of DNA methylation | Any process involved in maintaining the methylation state of a nucleotide sequence. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| 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. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| protein localization to chromosome, centromeric region | Any process in which a protein is transported to, or maintained at, the centromeric region of a chromosome. |
| regulation of centromeric sister chromatid cohesion | Any process that modulates the frequency, rate or extent of sister chromatid cohesion in the centromeric region of a chromosome. |
| regulation of gene expression by genomic imprinting | An epigenetic mechanism of regulation of gene expression in which epigenetic modifications (imprints) are established during gametogenesis. For a given gene to show parentally biased expression, the imprint are established exclusively in one of the two parental genomes, thus generating an asymmetry between the maternal and paternal alleles. |
| regulation of gene expression, epigenetic | A process that modulates the frequency, rate or extent of gene expression through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA. Once established, this regulation may be maintained over many cell divisions. It can also be heritable in the absence of the instigating signal. |
| regulation of histone acetylation | Any process that modulates the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
| regulation of histone methylation | Any process that modulates the frequency, rate or extent of the covalent addition of methyl groups to histones. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
| Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
| A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
| A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
| Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
| Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
| Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
| Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
| O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
| O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
| P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
| Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
| P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
| Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
| Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
| Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
| P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
| P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
| P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
| O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
| Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
| Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
| Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
| Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
| Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
| Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
| O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
| Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
| Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
| Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
| Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
| P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
| Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
| Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
| Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
| P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
| Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
| Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
| Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
| Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
| Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
| Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
| Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
| O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
| Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
| Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
| Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
| Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
| Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
| Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
| Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
| Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
| Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
| P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
| Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
| Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
| Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
| P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
| Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
| P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
| P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
| Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
| Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
| O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
| Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
| Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
| P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
| Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
| Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
| P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
| Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
| O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
| Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
| P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
| A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
| Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
| Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
| A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
| A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
| Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
| P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
| Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
| Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
| P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
| Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
| O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
| Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
| Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
| P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
| Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
| Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
| Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
| Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
| Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
| Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
| Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
| Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
| A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
| Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
| P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
| P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
| Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
| Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
| Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
| Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
| Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
| Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
| Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
| P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
| Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
| O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
| B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
| O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
| Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
| Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
| Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
| Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
| Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
| P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
| Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
| Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
| Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
| Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
| Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
| Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
| B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
| B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
| Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
| O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
| P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
| P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
| A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
| Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
| A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
| Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGDAVEAIV | EESETFIKGK | ERKTYQRRRE | GGQEEDACHL | PQNQTDGGEV | VQDVNSSVQM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VMMEQLDPTL | LQMKTEVMEG | TVAPEAEAAV | DDTQIITLQV | VNMEEQPINI | GELQLVQVPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVTVPVATTS | VEELQGAYEN | EVSKEGLAES | EPMICHTLPL | PEGFQVVKVG | ANGEVETLEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GELPPQEDPS | WQKDPDYQPP | AKKTKKTKKS | KLRYTEEGKD | VDVSVYDFEE | EQQEGLLSEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NAEKVVGNMK | PPKPTKIKKK | GVKKTFQCEL | CSYTCPRRSN | LDRHMKSHTD | ERPHKCHLCG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAFRTVTLLR | NHLNTHTGTR | PHKCPDCDMA | FVTSGELVRH | RRYKHTHEKP | FKCSMCDYAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VEVSKLKRHI | RSHTGERPFQ | CSLCSYASRD | TYKLKRHMRT | HSGEKPYECY | ICHARFTQSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TMKMHILQKH | TENVAKFHCP | HCDTVIARKS | DLGVHLRKQH | SYIEQGKKCR | YCDAVFHERY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALIQHQKSHK | NEKRFKCDQC | DYACRQERHM | IMHKRTHTGE | KPYACSHCDK | TFRQKQLLDM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HFKRYHDPNF | VPAAFVCSKC | GKTFTRRNTM | ARHADNCAGP | DGVEGENGGE | TKKSKRGRKR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KMRSKKEDSS | DSENAEPDLD | DNEDEEEPAV | EIEPEPEPQP | VTPAPPPAKK | RRGRPPGRTN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QPKQNQPTAI | IQVEDQNTGA | IENIIVEVKK | EPDAEPAEGE | EEEAQPAATD | APNGDLTPEM |
| ILSMMDR |