Q9NQX1
PR
Gene name |
PRDM5 (PFM2) |
Protein name |
PR domain zinc finger protein 5 |
Names |
PR domain-containing protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11107 |
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
2 structures for Q9NQX1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6XAZ | X-ray | 170 A | A/B | 1-127 | PDB |
| AF-Q9NQX1-F1 | Predicted | AlphaFoldDB |
508 variants for Q9NQX1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1725107158 RCV001260235 |
6 | V>G | Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA241748 RCV001260234 RCV002277367 rs374583073 COSM480797 RCV000175905 |
36 | G>R | kidney Brittle cornea syndrome 2 (bcs2) Ehlers-Danlos syndrome Variant assessed as Somatic; 0.0 impact. oesophagus Brittle cornea syndrome 2 [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002278572 RCV000315336 rs563401372 CA3061494 |
43 | R>T | Ehlers-Danlos syndrome Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002520200 rs201325904 RCV000398886 RCV002450921 CA3061452 |
79 | S>C | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001260237 rs761027478 CA3061448 RCV003166589 |
83 | R>C | Brittle cornea syndrome 2 (bcs2) Variant assessed as Somatic; 0.0 impact. Brittle cornea syndrome 2 [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002490906 CA3061447 RCV002431481 rs201945549 RCV000523313 |
83 | R>H | Variant assessed as Somatic; 0.0 impact. Brittle cornea syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000024109 CA129680 VAR_066393 rs387907111 |
107 | Y>C | Brittle cornea syndrome 2 (bcs2) Brittle cornea syndrome 2 BCS2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000280666 RCV002450919 rs146228268 RCV000831805 CA3061413 |
114 | E>D | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886059044 RCV000375145 CA10620022 |
131 | E>A | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002348192 RCV000439437 rs146268537 CA3061375 RCV002278678 RCV002062644 |
164 | K>I | Ehlers-Danlos syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3061361 RCV000334286 RCV002278571 rs199602365 RCV002348102 RCV001548254 |
182 | L>F | Connective tissue disorder Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000279273 RCV003168528 rs886059043 CA10617873 |
198 | E>Q | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1064794819 RCV000482774 RCV000778717 CA16618029 |
224 | K>* | Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000998286 RCV002279693 RCV003132134 CA3061275 RCV002434385 rs183142477 |
280 | K>R | Ehlers-Danlos syndrome Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000207198 rs779601690 CA074828 |
293 | K>E | Axenfeld-Rieger syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002276571 RCV000024110 rs766853150 RCV001090890 |
325 | C>missing | Ehlers-Danlos syndrome Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411242 rs140634372 RCV002278568 RCV000425476 CA3061156 RCV002061238 RCV000276233 |
356 | S>T | Ehlers-Danlos syndrome Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3061150 rs148079992 RCV002438256 RCV002279319 COSM3660856 RCV000522099 |
371 | S>R | Ehlers-Danlos syndrome liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000616854 RCV002279396 CA3061100 RCV000970971 RCV002377252 rs75893420 |
425 | I>V | Ehlers-Danlos syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759022476 CA3061073 RCV001198585 |
438 | D>N | Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3061064 RCV000356841 rs371617787 RCV001171740 |
460 | K>R | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000297279 rs886059041 CA10620010 |
462 | R>T | Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3060982 RCV000584978 RCV000341675 rs142515463 RCV002278566 RCV002402070 |
545 | Y>H | Ehlers-Danlos syndrome Brittle cornea syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001171739 rs387907110 RCV000024107 CA129678 |
590 | R>* | Brittle cornea syndrome 2 (bcs2) Brittle cornea syndrome 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001260236 rs1734373037 |
620 | H>missing | Brittle cornea syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3061545 rs779132191 |
4 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105133217 rs1002440008 |
4 | M>T | No |
ClinGen Ensembl |
|
|
rs1213702772 CA358209972 |
5 | Y>C | No |
ClinGen gnomAD |
|
|
rs757434338 CA358209968 |
6 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757434338 CA3061544 |
6 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754063598 CA3061543 |
8 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105133215 rs1037882347 |
9 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3061542 rs777480802 |
10 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441263899 CA358209934 |
11 | S>C | No |
ClinGen TOPMed |
|
|
CA3061540 rs752577587 |
14 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3061538 COSM1426607 rs759134690 |
15 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs377348597 CA358209908 |
16 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377348597 CA3061537 |
16 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333912400 CA358209897 |
18 | Q>E | No |
ClinGen gnomAD |
|
|
CA358209884 CA3061535 rs148449361 |
19 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402143467 CA358209882 |
20 | G>R | No |
ClinGen gnomAD |
|
|
rs1402143467 CA358209883 |
20 | G>S | No |
ClinGen gnomAD |
|
|
rs889282322 CA105133214 |
21 | M>R | No |
ClinGen TOPMed |
|
|
rs1171123532 CA358209864 |
22 | G>E | No |
ClinGen gnomAD |
|
|
rs1438517474 CA358209852 |
24 | Y>* | No |
ClinGen gnomAD |
|
|
rs761036268 CA3061532 |
24 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1395414287 CA358209849 |
25 | T>A | No |
ClinGen Ensembl |
|
|
rs775875300 CA358209847 |
25 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs775875300 CA3061531 |
25 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs772519332 CA105133212 |
26 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3061530 rs772519332 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3061529 rs373822101 |
27 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3061528 rs774459667 |
27 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770978885 CA3061527 |
28 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281285547 CA358209827 |
29 | V>E | No |
ClinGen gnomAD |
|
|
rs1281285547 CA358209826 |
29 | V>G | No |
ClinGen gnomAD |
|
|
rs1374990037 CA358209822 |
30 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358209701 rs1277952182 |
34 | K>E | No |
ClinGen gnomAD |
|
|
CA358209692 rs1265592577 |
35 | F>L | No |
ClinGen gnomAD |
|
|
CA358209677 rs1246822547 |
37 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 38 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767930168 CA3061495 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209644 rs1269597260 |
42 | K>R | No |
ClinGen TOPMed |
|
|
rs1269597260 CA358209643 |
42 | K>T | No |
ClinGen TOPMed |
|
|
CA105131557 rs370047823 |
44 | M>T | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 46 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774849667 CA3061493 |
47 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358209581 rs1217172701 |
51 | N>D | No |
ClinGen gnomAD |
|
|
CA358209569 rs1249982144 |
52 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs948965979 CA105131556 |
52 | M>T | No |
ClinGen Ensembl |
|
|
CA3061492 COSM732822 rs766857802 |
52 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1290239642 CA358209565 |
53 | D>N | No |
ClinGen gnomAD |
|
|
CA3061491 rs762968750 |
54 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA358209554 rs762968750 |
54 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3061489 rs147410661 |
55 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061490 rs374003643 |
55 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105131555 rs907676561 |
59 | E>K | No |
ClinGen TOPMed |
|
|
rs778714450 CA3061462 |
60 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs142855444 CA3061460 |
61 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142855444 CA3061461 |
61 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777432357 CA3061459 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927215580 CA105125612 |
64 | K>E | No |
ClinGen TOPMed |
|
|
rs1443942635 CA358210813 |
69 | Y>H | No |
ClinGen gnomAD |
|
|
CA3061457 rs369843425 |
70 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780525329 CA3061456 |
71 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA358210791 rs1221914080 |
72 | D>G | No |
ClinGen TOPMed |
|
|
CA358210776 rs1175313702 |
74 | T>I | No |
ClinGen gnomAD |
|
|
rs1357251511 CA358210779 |
74 | T>S | No |
ClinGen gnomAD |
|
|
CA105125611 rs1005002867 |
75 | N>S | No |
ClinGen Ensembl |
|
|
CA3061454 rs750942328 |
77 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3061455 rs758685010 |
77 | R>W | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 78 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764238097 CA3061450 |
80 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358210731 rs1239539676 |
81 | W>* | No |
ClinGen gnomAD |
|
|
rs770813235 COSM84864 CA3061443 |
85 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770813235 CA3061444 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061442 rs749189168 |
86 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061441 rs772754429 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358210693 rs1415178813 |
88 | A>T | No |
ClinGen gnomAD |
|
|
CA358210676 rs1296650034 |
90 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs138935597 CA3061440 |
93 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358210645 rs201700872 |
94 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs900479427 CA105125609 |
95 | N>D | No |
ClinGen gnomAD |
|
|
CA3061439 rs747899700 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs889426404 CA105125608 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358210606 rs1420670623 |
100 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1422530949 CA358210610 |
100 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs887320638 CA105122207 |
104 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372366236 CA3061415 |
106 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358209146 rs387907111 |
107 | Y>F | Brittle cornea syndrome 2 (bcs2) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs1239827260 CA358209126 |
108 | L>F | No |
ClinGen TOPMed |
|
|
CA105122205 rs970979139 |
110 | V>G | No |
ClinGen Ensembl |
|
|
rs1483974033 CA358209098 |
111 | E>K | No |
ClinGen TOPMed |
|
|
rs899814379 CA105122204 |
113 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3061414 rs564156631 |
113 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180840323 CA358209019 |
115 | T>I | No |
ClinGen TOPMed |
|
|
rs531143989 CA3061412 |
117 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358208948 rs1171226620 |
121 | I>F | No |
ClinGen gnomAD |
|
|
CA358208914 rs1432429329 |
123 | Y>* | No |
ClinGen gnomAD |
|
|
rs762668358 CA3061407 |
124 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs766226909 CA3061408 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3061406 rs750374228 |
125 | D>V | No |
ClinGen ExAC |
|
|
rs1578872668 CA358208884 |
126 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358208839 rs1360944756 |
129 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578872598 CA358208787 |
132 | E>G | No |
ClinGen Ensembl |
|
|
CA358208771 rs1466668781 |
133 | E>A | No |
ClinGen TOPMed |
|
|
CA358208769 rs1466668781 |
133 | E>G | No |
ClinGen TOPMed |
|
|
rs765109288 CA3061405 |
134 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761418669 CA3061404 |
135 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs757199736 CA105122202 |
135 | Q>R | No |
ClinGen Ensembl |
|
|
CA358208703 rs1302338492 |
137 | I>M | No |
ClinGen TOPMed |
|
|
CA3061403 rs776045160 CA358208682 |
138 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990141769 CA105122201 |
139 | T>A | No |
ClinGen TOPMed |
|
|
CA358208658 rs1386575628 |
140 | V>A | No |
ClinGen gnomAD |
|
|
CA3061401 rs760303865 |
141 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358208638 rs1350238918 |
142 | K>E | No |
ClinGen gnomAD |
|
|
rs1311128903 CA358208602 |
144 | G>E | No |
ClinGen TOPMed |
|
|
CA3061400 rs367672112 |
145 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771430048 CA3061399 |
146 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA105122199 rs866535676 |
147 | E>* | No |
ClinGen gnomAD |
|
|
CA358208587 rs866535676 |
147 | E>K | No |
ClinGen gnomAD |
|
|
rs1281753839 CA358208576 |
148 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749616603 CA3061398 |
150 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061395 rs373828468 |
151 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061396 rs770239636 |
151 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA105122197 rs934603025 |
153 | S>L | No |
ClinGen Ensembl |
|
|
rs781185514 CA3061393 |
154 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755078221 CA3061392 COSM3392677 |
155 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3061391 rs751782987 |
156 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470436588 CA358208511 |
159 | D>N | No |
ClinGen gnomAD |
|
|
CA3061377 rs748667559 RCV000998287 |
160 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
COSM1426604 rs781674958 CA3061376 |
160 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358208266 rs781674958 |
160 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA358208264 rs1449763569 |
161 | L>V | No |
ClinGen TOPMed |
|
|
rs1216586146 CA358208232 |
165 | E>D | No |
ClinGen gnomAD |
|
|
CA3061374 rs747041753 |
165 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358208237 rs747041753 |
165 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061373 rs780284907 |
166 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985380293 CA105121917 |
170 | P>L | No |
ClinGen Ensembl |
|
|
rs746068577 CA3061371 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3061370 rs370082902 |
171 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061368 rs753727404 |
172 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs868792883 CA105121916 |
173 | E>K | No |
ClinGen Ensembl |
|
|
rs755711480 CA3061366 |
174 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764037024 CA3061367 |
174 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767110605 CA3061364 |
177 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358208150 rs1462908668 |
178 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358208147 rs954624177 COSM381540 |
178 | S>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA105121915 rs954624177 |
178 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3061363 rs542507317 |
180 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061362 rs774139642 |
181 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3825074 rs1251163677 CA358208091 |
186 | L>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs777025417 CA3061359 |
186 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238168712 CA358208066 |
190 | H>R | No |
ClinGen gnomAD |
|
|
rs551735905 CA3061355 |
191 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358208043 rs1309680813 |
193 | P>L | No |
ClinGen gnomAD |
|
|
rs1214757795 CA358208028 |
195 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358208009 rs886059043 COSM276886 |
198 | E>* | pancreas large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs574023609 CA3061353 |
200 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960868004 CA105121914 |
201 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358207985 rs1442474045 |
201 | C>S | No |
ClinGen gnomAD |
|
|
rs757019432 CA3061352 |
201 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA3061351 rs749065211 |
202 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358207964 rs1390882087 |
204 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 205 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061349 rs756164543 |
206 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170905546 CA358207906 |
212 | Q>K | No |
ClinGen gnomAD |
|
|
CA358207900 rs1442614837 |
213 | A>T | No |
ClinGen TOPMed |
|
|
CA358207884 rs150423808 |
215 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061348 rs150423808 |
215 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018569169 CA105121768 |
218 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1212631151 CA358207852 |
218 | V>I | No |
ClinGen gnomAD |
|
|
CA358207846 rs1259568974 |
219 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3061326 rs781215728 |
223 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358207813 rs1029844685 |
224 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA105121767 rs1029844685 |
224 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 226 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061324 rs751038770 |
226 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105121766 rs199527174 |
228 | K>N | No |
ClinGen 1000Genomes |
|
|
rs758118993 CA3061322 |
230 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750031024 CA3061321 |
231 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455476600 CA358207762 |
232 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1455476600 CA358207763 |
232 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1221891 rs1346294925 CA358207760 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760964342 CA3061319 |
233 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs145114094 CA246778 CA3061318 RCV003165374 RCV000179505 |
235 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA358207740 rs1460174994 |
235 | Q>P | No |
ClinGen gnomAD |
|
|
rs1460174994 CA358207739 |
235 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774533509 CA3061316 |
237 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs763299037 CA3061315 |
239 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358207707 rs1312765924 |
240 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 241 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061312 rs769722426 |
243 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358207671 rs1231940178 |
245 | S>L | No |
ClinGen TOPMed |
|
|
rs1561361284 CA358207670 COSM1050506 |
246 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs187637689 CA358207660 |
247 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187637689 CA3061311 COSM1426603 |
247 | S>L | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1003431280 CA105121764 |
248 | S>N | No |
ClinGen Ensembl |
|
|
CA105121744 rs77040785 |
249 | F>S | No |
ClinGen Ensembl |
|
|
CA105121743 rs371288295 COSM585584 |
251 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
CA3061290 rs533311848 |
253 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs771627688 CA3061289 |
253 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756946467 CA3061286 |
257 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1753513 rs190835070 CA3061287 |
257 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1057517804 RCV000413935 |
259 | D>missing | No |
ClinVar dbSNP |
|
|
rs781598677 CA3061284 |
259 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061283 rs200275445 |
259 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146635067 CA105121741 |
260 | A>T | No |
ClinGen ESP |
|
|
CA358207557 rs1396791897 |
261 | R>S | No |
ClinGen gnomAD |
|
|
CA3061282 rs752117736 |
261 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179545507 CA358207546 |
263 | V>E | No |
ClinGen gnomAD |
|
|
CA105121740 rs201226534 |
263 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1237740922 CA358207539 |
264 | C>F | No |
ClinGen gnomAD |
|
|
CA3061281 rs766744692 |
264 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437198195 CA358207535 |
265 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758534640 CA3061280 |
266 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA786280944 rs1452145427 |
269 | C>* | No |
ClinGen TOPMed |
|
|
CA358207495 rs1279951147 |
270 | G>E | No |
ClinGen gnomAD |
|
|
rs750569287 CA3061279 |
270 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs144553125 CA3061278 |
271 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350193010 CA358207471 |
274 | K>R | No |
ClinGen gnomAD |
|
|
rs762184040 CA3061277 |
275 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA358207465 rs1419534476 |
275 | S>N | No |
ClinGen TOPMed |
|
|
rs1409904566 CA358207449 |
277 | D>A | No |
ClinGen TOPMed |
|
|
rs1273587678 CA358207444 |
278 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358207441 rs1334522117 |
278 | A>V | No |
ClinGen gnomAD |
|
|
rs373835306 CA3061274 |
281 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373835306 CA358207424 |
281 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 281 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775521377 CA358207413 |
282 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA105121236 rs985631426 |
289 | G>E | No |
ClinGen Ensembl |
|
|
CA358207345 CA3061227 rs772622444 |
290 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560874334 CA3061226 |
291 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 292 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215186961 CA358207304 |
296 | I>M | No |
ClinGen TOPMed |
|
|
rs771595522 CA3061225 |
299 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358207289 rs771595522 COSM1738950 |
299 | V>M | NS haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3061223 rs777726075 |
300 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061224 rs777726075 |
300 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756148625 CA3061222 |
301 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3061221 rs370083936 |
301 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781373908 CA3061220 |
302 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061218 rs192586435 |
304 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3061219 rs192586435 |
304 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 308 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221825739 CA358207222 |
309 | S>N | No |
ClinGen gnomAD |
|
|
rs750309820 CA3061215 |
311 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1426725708 CA358207212 |
311 | Q>R | No |
ClinGen TOPMed |
|
|
CA358207199 rs1414331145 |
313 | H>N | No |
ClinGen gnomAD |
|
|
CA358210573 rs1198350732 |
317 | H>L | No |
ClinGen TOPMed |
|
|
CA105119653 rs139100729 |
319 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358210554 rs975072246 |
320 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA105119652 rs975072246 |
320 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 321 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358210530 rs1460262244 |
323 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061198 rs747178543 |
325 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 329 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358210441 rs1177191577 |
335 | L>V | No |
ClinGen TOPMed |
|
|
rs142805564 CA3061195 |
337 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061194 rs140554156 |
337 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061193 rs140554156 |
337 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756757676 CA3061192 |
338 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358210417 rs1446056116 |
339 | M>V | No |
ClinGen TOPMed |
|
|
rs923137742 CA105119649 |
340 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3061191 rs753428750 |
341 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391237769 CA358210355 |
345 | K>N | No |
ClinGen gnomAD |
|
|
CA3061165 rs755676779 |
346 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA358210354 rs755676779 |
346 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358210352 rs1305838798 |
346 | R>Q | No |
ClinGen gnomAD |
|
|
rs752451968 CA3061164 |
347 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3061161 rs750825490 |
348 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759074653 CA3061162 |
348 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1418339073 CA358210318 |
351 | E>D | No |
ClinGen gnomAD |
|
|
COSM169928 CA3061159 rs762388957 |
351 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA105119514 rs773224489 |
352 | I>T | No |
ClinGen gnomAD |
|
|
rs1249856112 CA358210315 |
352 | I>V | No |
ClinGen gnomAD |
|
|
rs373047004 CA105119513 |
354 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3061157 rs768783092 |
354 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs140634372 CA358210287 COSM1131291 |
356 | S>P | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3061155 rs775729249 |
358 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746026899 CA3061153 |
359 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358210234 rs1318343749 |
363 | V>G | No |
ClinGen gnomAD |
|
|
CA358210228 rs1290624544 |
364 | G>V | No |
ClinGen gnomAD |
|
|
rs1411215677 CA358210227 |
365 | A>T | No |
ClinGen gnomAD |
|
|
CA105119512 rs942172275 |
366 | H>L | No |
ClinGen Ensembl |
|
|
CA358210219 rs1286660908 |
366 | H>Y | No |
ClinGen TOPMed |
|
|
rs778780459 CA3061152 |
370 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770562564 CA3061151 |
371 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105119510 rs369580755 |
372 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369580755 CA3061149 |
372 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755729936 CA3061148 |
374 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752290488 CA3061147 |
381 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs546901987 CA3061144 |
383 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546901987 CA3061146 |
383 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546901987 CA3061145 |
383 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3061143 rs762154293 |
384 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061142 rs762154293 |
384 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762154293 CA358210094 |
384 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061140 rs764553910 |
386 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764553910 CA3061141 COSM276885 |
386 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA105119509 rs867137549 |
388 | R>K | No |
ClinGen Ensembl |
|
|
rs533062576 CA3061137 |
390 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149367073 CA3061135 |
391 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270339932 CA358210043 |
392 | K>R | No |
ClinGen gnomAD |
|
|
rs1229470478 CA358210025 |
394 | H>Q | No |
ClinGen gnomAD |
|
|
CA3061134 rs376508533 |
396 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3061117 rs766674190 |
397 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358209500 rs763221182 |
397 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763221182 CA3061116 |
397 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209483 rs1435763293 |
400 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3061115 rs773158455 |
401 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578724663 CA358209466 |
402 | R>T | No |
ClinGen Ensembl |
|
|
rs769647986 CA3061114 |
403 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209458 rs769647986 |
403 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061112 rs375961361 |
404 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443088108 CA358209442 |
406 | C>R | No |
ClinGen TOPMed |
|
|
rs768540305 CA105118016 |
407 | E>G | No |
ClinGen Ensembl |
|
|
CA3061108 rs753113187 |
414 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061109 rs753113187 |
414 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371659094 CA3061110 |
414 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061107 rs745463701 |
415 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM40501 rs778113284 CA3061106 |
416 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753303327 CA3061104 |
420 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 421 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358209332 rs1226204161 |
422 | H>P | No |
ClinGen TOPMed |
|
|
CA358209318 rs1336293540 |
424 | L>R | No |
ClinGen TOPMed |
|
|
CA3061099 rs763274308 |
426 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209308 rs763274308 |
426 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190861436 CA358209304 |
427 | N>H | No |
ClinGen TOPMed |
|
|
CA3061078 rs762056275 |
430 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209248 rs1266761912 |
432 | F>L | No |
ClinGen TOPMed |
|
|
CA3061076 rs763891674 |
433 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs763891674 CA3061077 |
433 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1253602152 CA358209221 |
435 | H>Y | No |
ClinGen gnomAD |
|
|
CA3061075 rs760532453 |
436 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759022476 CA3061072 |
438 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA105117602 rs915854208 |
439 | A>V | No |
ClinGen Ensembl |
|
|
rs774028494 CA105117601 |
440 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774028494 CA3061071 |
440 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267188831 CA358209122 |
442 | K>E | No |
ClinGen gnomAD |
|
|
CA3061070 rs368307888 |
444 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3061068 rs193201534 |
447 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3061067 rs769063569 |
449 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358209024 rs1449312580 |
450 | H>P | No |
ClinGen gnomAD |
|
|
rs941069418 CA105117599 |
451 | V>I | No |
ClinGen gnomAD |
|
|
rs909511489 CA105117597 |
454 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573381010 CA3061065 |
457 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358208860 rs886059041 |
462 | R>K | No |
ClinGen gnomAD |
|
|
CA358208849 rs1553965572 |
463 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 464 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105117596 rs770090514 |
464 | E>K | No |
ClinGen gnomAD |
|
|
CA358208806 rs1561207455 |
466 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 467 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061062 rs779087603 |
467 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3061061 rs757433292 |
469 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358208722 rs1301319394 |
473 | P>A | No |
ClinGen TOPMed |
|
|
rs754024988 CA3061060 |
474 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358208692 rs1268548844 |
476 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1343582322 CA358208688 |
476 | L>P | No |
ClinGen TOPMed |
|
|
CA358208669 rs1561207252 |
478 | S>R | No |
ClinGen Ensembl |
|
|
CA3061059 rs763860218 |
480 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3061041 rs762407451 |
484 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs762407451 CA358208478 |
484 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM732827 rs1369334058 CA358208456 |
487 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1424923979 CA358208458 |
487 | K>R | No |
ClinGen gnomAD |
|
|
rs752517242 CA3061040 |
488 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs767248981 CA358208451 |
488 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767248981 CA3061039 |
488 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023395477 CA105117170 |
489 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061037 rs536473373 |
493 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3061038 rs754918140 |
493 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973311685 CA105117169 |
495 | G>S | No |
ClinGen Ensembl |
|
|
rs1317585394 CA358208403 |
495 | G>V | No |
ClinGen TOPMed |
|
|
CA358208382 rs1324559712 |
498 | F>Y | No |
ClinGen TOPMed |
|
|
rs1272488933 CA358208374 |
499 | A>G | No |
ClinGen gnomAD |
|
|
rs1578692692 CA358208357 |
501 | S>R | No |
ClinGen Ensembl |
|
|
rs373140800 CA105117168 |
503 | T>S | No |
ClinGen ESP TOPMed |
|
|
CA3061033 rs764973590 |
504 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs761511412 CA3061032 |
505 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA358208333 rs1354865739 |
506 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358208323 rs1330848707 |
507 | H>R | No |
ClinGen gnomAD |
|
|
CA3061031 COSM1426601 rs776012686 |
509 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746442268 CA3061029 |
511 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA358207165 rs1322124232 |
513 | G>D | No |
ClinGen TOPMed |
|
|
rs768049637 COSM202680 CA3061013 |
515 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA358207152 rs1404353797 |
515 | R>H | Variant assessed as Somatic; 4.73e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3061012 rs759957628 |
516 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763317084 CA3061009 |
517 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs773352100 CA3061008 |
518 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3061007 rs769862978 |
519 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA358207092 COSM3696409 rs1185593642 |
520 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 528 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 531 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358206888 rs1410110444 |
531 | G>V | No |
ClinGen gnomAD |
|
|
CA3061005 rs781373883 |
534 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358206828 rs1246127390 |
537 | R>H | No |
ClinGen TOPMed |
|
|
rs1463793614 CA358206831 |
537 | R>S | No |
ClinGen gnomAD |
|
|
CA3061003 rs140622920 |
538 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779905301 CA3060984 |
544 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA105109796 rs757623680 |
545 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1560932724 CA358207062 |
547 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3060980 rs756867680 |
548 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA358207035 rs1187436680 |
549 | E>A | No |
ClinGen gnomAD |
|
|
CA358207033 rs1187436680 |
549 | E>G | No |
ClinGen gnomAD |
|
|
rs755802156 CA3060977 |
550 | C>* | No |
ClinGen ExAC |
|
|
CA105109795 rs1045854598 |
550 | C>Y | No |
ClinGen Ensembl |
|
|
CA240580 rs752221668 |
551 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766827272 CA3060976 |
553 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1490743354 COSM1050495 CA358206908 |
558 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3060975 rs763208055 |
558 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750972426 CA3060974 |
559 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3060973 rs765767835 |
561 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215111356 CA358206784 |
564 | K>E | No |
ClinGen gnomAD |
|
|
rs917768289 CA105109793 |
564 | K>R | No |
ClinGen Ensembl |
|
|
rs371714829 CA3060972 |
566 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346450792 CA358206746 |
569 | G>R | No |
ClinGen gnomAD |
|
|
CA3060968 rs775560484 |
571 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358206697 rs1578435253 |
575 | C>Y | No |
ClinGen Ensembl |
|
|
rs1171671602 CA358206687 |
576 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3060947 rs775819771 |
578 | C>G | No |
ClinGen ExAC |
|
|
rs1177336219 CA358206661 |
578 | C>Y | No |
ClinGen gnomAD |
|
|
rs759782529 CA3060945 |
581 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770780180 CA3060943 |
587 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774297369 CA105108089 |
587 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3060944 rs774297369 |
587 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs769388940 CA3060941 |
590 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA358206576 rs1310906352 |
591 | H>Y | No |
ClinGen TOPMed |
|
|
CA358206567 rs1227856007 |
592 | K>T | No |
ClinGen gnomAD |
|
|
rs1377595192 CA358206561 |
593 | M>V | No |
ClinGen gnomAD |
|
|
rs1317719599 CA358206552 |
594 | T>A | No |
ClinGen gnomAD |
|
|
CA3060940 rs527798044 |
594 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 595 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358206543 rs1469443020 |
595 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs565350636 CA3060939 |
596 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1306216582 CA358206523 |
598 | N>S | No |
ClinGen TOPMed |
|
|
CA358206518 rs1451159185 |
599 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3060937 rs746598644 |
599 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 600 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358206503 rs1159152264 |
602 | A>T | No |
ClinGen gnomAD |
|
|
CA3060936 rs779319300 |
603 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA358206469 rs1185298282 |
606 | F>C | No |
ClinGen gnomAD |
|
|
rs754390295 CA3060934 |
611 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs764476053 CA3060933 |
611 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 615 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105108086 rs960171755 |
615 | D>V | No |
ClinGen Ensembl |
|
|
CA105108085 rs928901991 |
616 | Y>C | No |
ClinGen Ensembl |
|
|
CA3060931 rs752742716 |
617 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3060928 rs751823310 |
618 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751823310 CA3060929 |
618 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368866083 CA3060927 |
619 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358206375 rs1294048147 |
620 | H>Y | No |
ClinGen gnomAD |
|
|
CA3060925 rs773022499 |
621 | M>I | No |
ClinGen ExAC |
|
|
rs970486399 CA358206366 |
621 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA105108084 rs970486399 |
621 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1295853678 CA358206358 |
622 | D>G | No |
ClinGen gnomAD |
|
|
CA105108083 rs545026669 |
624 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545026669 CA3060923 |
624 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545026669 CA358206343 |
624 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358206338 rs1457119801 |
625 | H>R | No |
ClinGen gnomAD |
|
|
CA105108082 rs1043626810 |
626 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA358206331 rs1245614679 |
626 | G>V | No |
ClinGen gnomAD |
|
|
rs376740879 CA358206309 |
629 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358206303 rs1435532850 |
630 | S>I | No |
ClinGen TOPMed |
No associated diseases with Q9NQX1
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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 factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| 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. |
| metal ion binding | Binding to a metal ion. |
| methyltransferase activity | Catalysis of the transfer of a methyl group to an acceptor molecule. |
| 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. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron 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. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to leukemia inhibitory factor | 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 leukemia inhibitory factor stimulus. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| histone deacetylation | The modification of histones by removal of acetyl groups. |
| histone H3-K9 methylation | The modification of histone H3 by addition of one or more methyl groups to lysine at position 9 of the histone. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| 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 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 extracellular matrix organization | Any process that modulates the frequency, rate or extent of extracellular matrix organization. |
| regulation of gene expression | Any process that modulates 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). |
179 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 |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | 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 |
| P49711 | CTCF | Transcriptional repressor CTCF | 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 |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | 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 |
| 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 |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | 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 |
| 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 |
| Q60636 | Prdm1 | PR domain zinc finger protein 1 | Mus musculus (Mouse) | PR |
| A2AGX3 | Prdm11 | PR domain-containing protein 11 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | 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 |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | 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 |
| 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 |
| MLGMYVPDRF | SLKSSRVQDG | MGLYTARRVR | KGEKFGPFAG | EKRMPEDLDE | NMDYRLMWEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGSKGEVLYI | LDATNPRHSN | WLRFVHEAPS | QEQKNLAAIQ | EGENIFYLAV | EDIETDTELL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IGYLDSDMEA | EEEEQQIMTV | IKEGEVENSR | RQSTAGRKDR | LGCKEDYACP | QCESSFTSED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILAEHLQTLH | QKPTEEKEFK | CKNCGKKFPV | KQALQRHVLQ | CTAKSSLKES | SRSFQCSVCN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSFSSASSFE | QHQETCRGDA | RFVCKADSCG | KRLKSKDALK | RHQENVHTGD | PKKKLICSVC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NKKCSSASSL | QEHRKIHEIF | DCQECMKKFI | SANQLKRHMI | THSEKRPYNC | EICNKSFKRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DQVGAHKVIH | SEDKPYKCKL | CGKGFAHRNV | YKNHKKTHSE | ERPFQCEECK | ALFRTPFSLQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RHLLIHNSER | TFKCHHCDAT | FKRKDTLNVH | VQVVHERHKK | YRCELCNKAF | VTPSVLRSHK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KTHTGEKEKI | CPYCGQKFAS | SGTLRVHIRS | HTGERPYQCP | YCEKGFSKND | GLKMHIRTHT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| REKPYKCSEC | SKAFSQKRGL | DEHKRTHTGE | KPFQCDVCDL | AFSLKKMLIR | HKMTHNPNRP |
| 610 | 620 | ||||
| LAECQFCHKK | FTRNDYLKVH | MDNIHGVADS |