Q6NUJ5
PR
Gene name |
PWWP2B (PWWP2) |
Protein name |
PWWP domain-containing protein 2B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:170394 |
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 Q6NUJ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4LD6 | X-ray | 170 A | A | 475-590 | PDB |
| AF-Q6NUJ5-F1 | Predicted | AlphaFoldDB |
565 variants for Q6NUJ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5754544 rs778211614 |
4 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391524525 CA378762762 |
5 | A>P | No |
ClinGen gnomAD |
|
|
rs949909290 CA216720622 |
7 | C>F | No |
ClinGen TOPMed |
|
|
rs747502136 CA5754546 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250376601 CA378762782 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA5754548 rs371892688 |
10 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378762793 rs371892688 |
10 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371892688 CA378762794 |
10 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754549 rs745540282 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA378762801 rs1415888674 |
12 | R>W | No |
ClinGen gnomAD |
|
|
rs1409775746 CA378762827 |
16 | V>I | No |
ClinGen TOPMed |
|
|
rs1372669173 CA378762848 |
19 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754551 rs775175525 |
26 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378762911 rs1160194397 |
29 | E>* | No |
ClinGen TOPMed |
|
|
CA216720666 rs866659617 |
29 | E>D | No |
ClinGen Ensembl |
|
|
CA5754552 rs762722757 |
30 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1309193819 CA378762916 |
30 | R>W | No |
ClinGen gnomAD |
|
|
CA216720678 rs868747148 |
33 | A>E | No |
ClinGen Ensembl |
|
|
rs1305373194 CA378763054 |
39 | C>R | No |
ClinGen gnomAD |
|
|
rs866050762 CA216720692 |
39 | C>Y | No |
ClinGen Ensembl |
|
|
rs867789634 CA216720700 |
40 | T>M | No |
ClinGen Ensembl |
|
|
rs375735929 CA5754567 |
43 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748909863 CA5754569 |
44 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA216728478 rs992912586 |
46 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378764838 rs1433899155 |
49 | P>L | No |
ClinGen gnomAD |
|
|
CA378764834 rs1344450844 |
49 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768338378 COSM1737152 CA5754570 |
50 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5754572 rs536666193 |
53 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1197065967 CA378764891 |
54 | L>M | No |
ClinGen TOPMed |
|
|
rs1156975492 CA378764895 |
54 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765347010 CA5754576 |
58 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | D>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754577 rs765347010 |
58 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763169899 CA5754578 |
60 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763169899 CA378764971 |
60 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751968534 CA378765010 |
64 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754580 rs751968534 |
64 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5754581 rs751968534 |
64 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765063 rs1177407377 |
67 | G>D | No |
ClinGen TOPMed |
|
|
rs369087462 CA216728556 |
68 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754583 rs369087462 |
68 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754582 rs768077712 |
68 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754585 rs539073500 |
69 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754584 rs539073500 |
69 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs889431466 CA216728558 |
69 | A>T | No |
ClinGen TOPMed |
|
|
CA5754586 rs748921194 |
70 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201568045 CA5754589 |
71 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754588 rs201568045 |
71 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754592 rs773340929 |
74 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378765121 rs1378989400 |
76 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5754593 rs746906988 |
77 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA378765134 rs1353918834 |
78 | M>I | No |
ClinGen gnomAD |
|
|
CA5754594 rs769768640 |
78 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | M>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378765129 rs769768640 |
78 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378765137 rs1229821140 |
79 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs575781271 CA5754595 |
79 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325264925 CA378765150 |
81 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 82 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378765161 rs1261589347 |
83 | S>G | No |
ClinGen TOPMed |
|
|
rs931136232 CA216728618 |
83 | S>R | No |
ClinGen Ensembl |
|
|
rs762917473 CA5754596 |
84 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774551264 CA5754598 |
85 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5754603 COSM215417 rs200128649 |
86 | P>A | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5754606 rs186726581 |
86 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1234606471 | 86 | P>L | Variant assessed as Somatic; 5.967e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754605 rs186726581 |
86 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200128649 CA5754604 |
86 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754602 rs200128649 |
86 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754607 rs370106470 |
87 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378765188 rs1160222086 |
88 | A>V | No |
ClinGen TOPMed |
|
|
CA5754608 rs11146363 VAR_037233 |
89 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5754609 rs777645530 |
89 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754611 rs560047950 |
90 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378765203 rs1590758887 |
91 | V>G | No |
ClinGen Ensembl |
|
|
rs377352915 CA5754613 |
92 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774569660 CA5754616 |
93 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765214 rs774569660 |
93 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765212 rs373426316 |
93 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373426316 CA5754614 |
93 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199872085 CA5754619 |
95 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199872085 CA378765222 |
95 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320019225 CA378765228 |
96 | T>P | No |
ClinGen gnomAD |
|
|
rs760923849 CA5754620 |
97 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5754621 rs766953563 |
97 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs10747057 CA378765238 |
98 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10747057 VAR_037234 CA5754622 |
98 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764783395 CA5754624 |
98 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764783395 CA378765239 |
98 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10747057 CA5754623 |
98 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752403093 CA5754625 |
99 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238483043 CA378765243 |
99 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756996900 CA378765247 |
100 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1175112209 CA378765249 |
100 | E>D | No |
ClinGen gnomAD |
|
|
rs756996900 CA5754629 |
100 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777735246 CA5754627 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777735246 CA5754628 |
100 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399948921 CA378765253 |
101 | P>L | No |
ClinGen gnomAD |
|
|
rs781247502 CA5754630 |
101 | P>T | No |
ClinGen ExAC |
|
|
CA378765267 rs1397754411 |
103 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216728742 rs778920466 |
104 | P>H | No |
ClinGen ExAC TOPMed |
|
|
CA5754633 rs778920466 |
104 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA378765274 rs1248856012 |
105 | L>F | No |
ClinGen TOPMed |
|
|
rs1397929041 CA378765276 |
105 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA216728778 rs1012708661 |
106 | V>G | No |
ClinGen Ensembl |
|
|
rs560113808 CA378765278 |
106 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560113808 CA5754636 |
106 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754638 rs200770777 |
107 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754640 rs760057823 |
108 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303682538 CA378765296 |
109 | L>R | No |
ClinGen TOPMed |
|
|
CA5754644 rs763902882 |
111 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198026013 CA378765311 |
112 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757084491 CA5754646 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754647 rs767146486 |
115 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA378765330 rs1467509249 |
115 | P>L | No |
ClinGen gnomAD |
|
|
CA378765327 rs767146486 |
115 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750405972 CA5754648 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765345 rs1233006028 |
118 | P>A | No |
ClinGen gnomAD |
|
|
rs1477683174 CA378765357 |
120 | Y>H | No |
ClinGen TOPMed |
|
|
rs1270135454 CA378765364 |
121 | F>I | No |
ClinGen TOPMed |
|
|
CA5754652 rs758469873 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1300667850 CA378765383 |
123 | G>A | No |
ClinGen gnomAD |
|
|
CA378765385 rs1490006869 |
124 | A>T | No |
ClinGen TOPMed |
|
|
rs778116134 CA5754653 |
124 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378765435 rs1288649824 |
131 | W>C | No |
ClinGen gnomAD |
|
|
CA5754657 rs746403288 |
132 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5754660 rs762606869 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546679322 CA5754663 |
143 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs931266627 CA216728880 |
144 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs577952525 CA216728913 |
146 | R>G | No |
ClinGen gnomAD |
|
|
rs1430348598 CA378765562 |
147 | T>P | No |
ClinGen TOPMed |
|
|
rs766372013 CA5754667 |
148 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA378765592 rs1238693416 |
149 | K>R | No |
ClinGen gnomAD |
|
|
rs1311897321 CA378765605 |
150 | R>C | No |
ClinGen gnomAD |
|
|
CA378765607 rs1354792234 |
150 | R>H | No |
ClinGen gnomAD |
|
|
CA5754668 rs753763879 |
151 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs753763879 CA378765622 |
151 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA378765624 rs1489286745 |
152 | R>G | No |
ClinGen gnomAD |
|
|
rs777648338 CA5754670 |
152 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378765625 rs1489286745 |
152 | R>W | No |
ClinGen gnomAD |
|
|
rs747291367 COSM1263591 CA5754671 |
153 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1237106360 CA378765637 |
153 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs757376117 CA5754672 |
154 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765660 rs1380851758 |
155 | L>M | No |
ClinGen gnomAD |
|
|
rs781456970 CA5754673 |
155 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765684 rs1162463473 |
156 | S>C | No |
ClinGen gnomAD |
|
|
CA378765694 rs1395442525 |
157 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378765692 rs1395442525 |
157 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5754675 rs770267148 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749741529 CA5754677 |
159 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376427258 CA5754678 |
159 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378765784 rs761363374 |
160 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378331901 CA378765756 |
160 | D>N | No |
ClinGen gnomAD |
|
|
rs370231461 CA5754681 |
161 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772844367 CA5754682 |
161 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765804 rs772844367 |
161 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765795 rs370231461 |
161 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1315448512 CA378765832 |
163 | R>C | No |
ClinGen gnomAD |
|
|
rs201899402 CA5754684 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378765901 rs1179873797 |
168 | T>N | No |
ClinGen gnomAD |
|
|
CA378765916 rs1425772073 |
169 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764260710 CA5754687 |
169 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5754688 rs538068084 |
170 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378765927 rs1461903287 |
170 | R>H | No |
ClinGen TOPMed |
|
|
CA5754689 rs757331590 |
172 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1245174653 CA378765937 |
172 | R>Q | No |
ClinGen TOPMed |
|
|
CA5754690 rs757331590 |
172 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs756548662 CA5754692 |
174 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs975360491 CA216729052 |
176 | V>M | No |
ClinGen gnomAD |
|
|
CA216729063 rs1014239277 |
177 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5754695 rs769090987 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1311532906 CA378766206 |
183 | S>R | No |
ClinGen gnomAD |
|
|
CA216729067 rs952764199 |
183 | S>T | No |
ClinGen Ensembl |
|
|
CA5754696 rs779442728 |
184 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754700 rs772866444 |
188 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754699 rs772866444 |
188 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476987149 CA378766399 |
189 | E>D | No |
ClinGen gnomAD |
|
|
CA378766416 rs1455765741 |
190 | A>G | No |
ClinGen TOPMed |
|
|
CA378766438 rs1195928174 |
191 | S>R | No |
ClinGen gnomAD |
|
|
CA378766455 rs1420387881 |
192 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754703 rs759356863 |
193 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866456686 CA216729114 |
193 | G>V | No |
ClinGen Ensembl |
|
|
rs1590759517 CA378766491 |
194 | P>A | No |
ClinGen Ensembl |
|
|
rs576756232 CA5754704 |
194 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378766521 rs1442077568 |
195 | P>L | No |
ClinGen TOPMed |
|
|
rs1185675092 CA378766520 |
195 | P>S | No |
ClinGen TOPMed |
|
|
CA378766556 rs545606419 |
197 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754707 rs545606419 |
197 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754708 rs750701942 |
197 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780401659 CA5754710 |
199 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562622584 CA216729154 |
200 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA378766605 rs562622584 |
200 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs754193346 CA5754711 |
201 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378766639 rs754193346 |
201 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754193346 CA216729159 |
201 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378766693 rs1215599297 |
203 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs576168836 CA5754712 |
203 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378766701 rs1283703126 |
204 | L>P | No |
ClinGen gnomAD |
|
|
CA216729172 rs191193353 |
205 | G>D | No |
ClinGen 1000Genomes TOPMed |
|
|
rs779344630 CA216729175 |
206 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754714 rs748633789 |
208 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216729177 rs748633789 |
208 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189565764 CA378766793 |
210 | R>G | No |
ClinGen gnomAD |
|
|
rs1427837674 CA378766815 |
211 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5754716 rs185688700 |
213 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746690563 CA5754717 |
213 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937454944 CA216729222 |
215 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs904700521 CA216729210 |
215 | P>S | No |
ClinGen TOPMed |
|
|
rs1291351506 CA378766885 |
216 | E>G | No |
ClinGen TOPMed |
|
|
rs1439774913 CA378766908 |
217 | E>D | No |
ClinGen gnomAD |
|
|
rs1294825725 CA378766894 |
217 | E>Q | No |
ClinGen gnomAD |
|
|
rs776237369 CA5754719 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216729236 rs896040431 |
219 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA216729239 rs896040431 |
219 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs982908948 CA216729252 |
221 | G>S | No |
ClinGen gnomAD |
|
|
rs748741632 CA5754722 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219418441 CA378766994 |
224 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs561818686 CA216729266 |
224 | T>P | No |
ClinGen 1000Genomes |
|
|
rs1469297719 CA378767005 |
225 | A>V | No |
ClinGen gnomAD |
|
|
rs527630192 CA5754725 |
226 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159534287 CA378767016 |
227 | A>T | No |
ClinGen gnomAD |
|
|
CA5754728 rs754076028 |
228 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA378767039 rs1028118119 |
229 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA216729301 rs1028118119 |
229 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1445409434 CA378767044 |
229 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1590759783 CA378767045 |
230 | R>G | No |
ClinGen Ensembl |
|
|
rs768729423 CA216729309 |
231 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 233 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754731 rs774420278 |
234 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754732 rs374692074 |
237 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778233848 CA5754733 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778233848 CA378767141 |
237 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754735 rs756758285 |
238 | E>K | Variant assessed as Somatic; 5.476e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745455018 CA216729333 |
240 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769505663 CA5754738 |
240 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs745455018 CA5754737 |
240 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775302472 CA5754739 |
241 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs965289685 CA216729345 |
242 | A>D | No |
ClinGen TOPMed |
|
|
CA378767192 rs1436486641 |
242 | A>T | No |
ClinGen TOPMed |
|
|
CA378767198 rs965289685 |
242 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5754742 rs774426060 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754741 rs768753837 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5754745 rs776724527 |
246 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754746 rs759765274 |
248 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378767246 rs759765274 |
248 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378767248 rs1410526768 |
249 | R>Q | No |
ClinGen gnomAD |
|
|
CA216729383 rs201467174 |
249 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs758736266 CA5754749 |
251 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780711358 CA5754753 |
254 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754757 rs749161991 |
267 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1477312608 CA378767400 |
272 | R>G | No |
ClinGen gnomAD |
|
|
CA378767402 rs1190866368 |
272 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378767405 rs1590759936 |
273 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 278 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216729438 rs944222263 |
280 | F>L | No |
ClinGen Ensembl |
|
|
rs748032747 CA5754760 |
281 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754761 rs761771232 |
281 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776723868 CA5754762 |
282 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568308152 CA5754763 |
285 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs190588386 COSM1346868 CA5754764 |
286 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA378767523 rs1455311368 |
286 | P>S | No |
ClinGen gnomAD |
|
|
CA378767536 rs545037813 |
287 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545037813 CA5754766 |
287 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5754767 rs545037813 |
287 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142351748 CA5754768 |
287 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1360625027 CA378767570 |
289 | D>A | No |
ClinGen TOPMed |
|
|
CA5754771 rs767884766 |
289 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360625027 CA378767574 |
289 | D>V | No |
ClinGen TOPMed |
|
|
CA5754770 rs767884766 |
289 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779813372 CA5754773 |
290 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888474300 CA216729507 |
293 | D>E | No |
ClinGen gnomAD |
|
|
rs1160437232 CA378767631 |
294 | P>A | No |
ClinGen TOPMed |
|
|
CA5754776 rs556155323 |
295 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378767651 rs1379228940 |
296 | V>M | No |
ClinGen TOPMed |
|
|
rs376584930 CA216729526 |
297 | L>P | No |
ClinGen ESP TOPMed |
|
|
rs777542079 CA5754779 |
298 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5754778 rs772096039 |
298 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758322796 CA5754780 |
299 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1504579 rs769752055 CA5754781 |
300 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775706493 CA5754782 |
300 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763119150 CA5754783 |
301 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774741699 CA5754785 |
302 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5754784 rs769028535 |
302 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1329850236 CA378767748 |
303 | D>N | No |
ClinGen gnomAD |
|
|
rs750881281 CA378767764 |
304 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750881281 CA5754788 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768135779 CA5754787 |
304 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5754789 rs760243459 |
305 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754630823 CA378767776 |
306 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754630823 CA5754792 |
306 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754794 rs752580853 |
307 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs374731347 CA5754796 COSM2023472 |
308 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs555640694 CA5754797 |
308 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1161080795 CA378767791 |
309 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378767790 rs1437536642 |
309 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5754799 rs780057300 |
310 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378767817 rs774549118 |
313 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA378767815 rs1590760175 |
313 | I>T | No |
ClinGen Ensembl |
|
|
CA378767812 rs1388593233 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs969862013 CA216729594 |
314 | P>R | No |
ClinGen Ensembl |
|
|
CA378767824 rs1475941893 |
315 | K>E | No |
ClinGen TOPMed |
|
|
rs976706679 CA216729599 |
315 | K>M | No |
ClinGen TOPMed |
|
|
rs1020583438 CA216729600 |
320 | R>Q | No |
ClinGen TOPMed |
|
|
rs1445001493 CA378767857 |
320 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309657269 CA378767862 |
321 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376634876 CA216729603 |
322 | V>M | No |
ClinGen Ensembl |
|
|
CA5754804 rs772267161 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772267161 CA378767874 |
323 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378767873 rs1223896299 |
323 | P>S | No |
ClinGen TOPMed |
|
|
rs1336241466 CA378767879 |
324 | A>G | No |
ClinGen gnomAD |
|
|
CA5754807 rs766011190 |
325 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759087247 CA378767888 |
326 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs911653247 CA378767887 |
326 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA216729630 rs911653247 |
326 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs911653247 CA216729627 |
326 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759087247 CA5754809 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs917455170 CA216729651 |
327 | D>N | No |
ClinGen TOPMed |
|
|
CA5754811 rs752388710 |
328 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5754812 rs758231375 |
329 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378767904 rs758231375 |
329 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378767905 rs758231375 |
329 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868692684 CA216729655 |
329 | P>S | No |
ClinGen Ensembl |
|
|
rs757188892 CA5754815 |
331 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754816 rs370923438 |
331 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193468535 CA378767917 |
332 | K>E | No |
ClinGen TOPMed |
|
|
CA378767926 rs1487544679 |
333 | I>F | No |
ClinGen TOPMed |
|
|
rs749432378 CA5754817 |
334 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200330904 CA216729675 |
334 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200330904 CA5754818 |
334 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754819 rs200330904 |
334 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748250549 CA5754820 |
335 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1395814561 CA378767953 |
338 | H>N | No |
ClinGen gnomAD |
|
|
CA216729687 rs1038755856 |
339 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769824159 CA5754821 |
339 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216729683 rs1038755856 |
339 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773400841 CA5754822 |
340 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs773400841 CA378767962 |
340 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754824 rs377048866 |
343 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378768532 rs1564874514 |
343 | S>T | No |
ClinGen Ensembl |
|
|
rs773444324 CA5754825 |
344 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754827 rs562598095 |
345 | H>P | No |
ClinGen ExAC |
|
|
rs775216375 CA378768575 |
345 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562598095 CA216729725 |
345 | H>R | No |
ClinGen ExAC |
|
|
rs200902054 CA5754829 |
346 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751347680 CA5754832 |
348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751347680 CA5754831 |
348 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767498318 CA5754833 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1259052156 CA378768637 |
350 | R>W | No |
ClinGen gnomAD |
|
|
rs1423079569 CA378768641 |
351 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377048881 CA216729753 |
352 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs370687029 CA216729793 |
355 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA378768748 rs1177888354 |
358 | N>D | No |
ClinGen TOPMed |
|
|
rs752984735 CA378768759 CA5754838 |
358 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754839 rs778025926 |
359 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1000007315 CA216729807 |
360 | Y>S | No |
ClinGen Ensembl |
|
|
rs747400577 CA5754840 |
361 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5754843 rs79720492 |
362 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79720492 CA5754842 |
362 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215843600 CA378768800 |
362 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1000097449 CA216729817 |
364 | S>T | No |
ClinGen TOPMed |
|
|
CA5754844 rs769463560 |
365 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754846 rs200265938 |
366 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378768874 rs1310397802 |
366 | P>T | No |
ClinGen TOPMed |
|
|
rs202110216 CA216729843 |
367 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA378768907 rs146112820 |
368 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5754850 rs767230881 |
368 | P>R | No |
ClinGen ExAC |
|
|
rs146112820 CA5754849 |
368 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1420808472 CA378768954 |
370 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397205424 CA378768977 |
372 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5754856 rs758503677 |
375 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758503677 COSM3786638 CA5754855 |
375 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5754857 rs751750520 |
376 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754858 rs757703257 |
377 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA216729895 COSM916359 rs932838504 |
378 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA378769169 rs1445468989 |
380 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 381 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378769198 rs1348246691 |
382 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746403428 CA5754860 |
382 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5754861 rs149840376 |
383 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 384 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378769225 rs1285551071 |
384 | S>R | No |
ClinGen gnomAD |
|
|
rs199540770 CA5754862 |
385 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773878702 CA5754865 |
386 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768151857 CA5754864 |
386 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA378769280 rs1201986204 |
387 | E>D | No |
ClinGen TOPMed |
|
|
CA5754867 rs367762742 |
389 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217337207 CA378769323 |
390 | D>N | No |
ClinGen TOPMed |
|
|
CA5754868 rs369865653 |
392 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754870 rs145866750 |
392 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378769385 rs1340732303 |
393 | S>R | No |
ClinGen TOPMed |
|
|
rs149018912 CA5754871 |
394 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159183591 CA378769431 |
397 | G>D | No |
ClinGen gnomAD |
|
|
CA5754873 rs200615897 |
397 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200615897 CA5754872 |
397 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299327785 CA378769438 |
398 | P>L | No |
ClinGen TOPMed |
|
|
CA5754875 rs757510348 |
400 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767834579 CA5754876 |
401 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750879988 CA5754877 |
401 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378769461 rs1321153315 |
402 | E>G | No |
ClinGen gnomAD |
|
|
rs780435205 CA5754879 |
402 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185738660 CA378769469 |
403 | G>D | No |
ClinGen TOPMed |
|
|
CA5754880 rs376689525 |
403 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275575701 CA378769476 |
404 | L>V | No |
ClinGen gnomAD |
|
|
rs1250607474 CA378769526 |
407 | L>P | No |
ClinGen gnomAD |
|
|
rs1231588406 CA378769531 |
408 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA216729967 rs1040456609 |
409 | S>R | No |
ClinGen TOPMed |
|
|
CA5754882 rs368809172 |
411 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215289186 CA378769573 |
412 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA216729979 rs1009643182 |
414 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771753505 CA5754884 |
414 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA5754885 rs772846394 |
415 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321436193 CA378769651 |
416 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 416 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5754887 rs770702231 |
417 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216730002 rs955896360 |
419 | S>R | No |
ClinGen gnomAD |
|
|
CA378769715 rs1442695543 |
420 | E>Q | No |
ClinGen gnomAD |
|
|
CA5754889 rs544928430 |
421 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774624690 CA5754891 |
422 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767906093 CA5754893 |
424 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767906093 CA5754894 |
424 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754895 rs756437184 |
424 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs766724858 CA378769816 |
425 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA216730026 rs1000554207 |
426 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs754321920 CA5754897 |
428 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA378769896 rs139452616 CA378769891 |
429 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378769899 rs1189428914 |
430 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 432 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572013115 CA5754899 |
433 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1166044905 CA378769999 |
434 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5754902 rs777418227 |
435 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1333312737 CA378770030 |
436 | S>L | No |
ClinGen gnomAD |
|
|
CA216730082 rs148236107 |
439 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148236107 CA5754904 |
439 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149751901 CA5754906 |
440 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216730090 rs577918110 |
441 | A>T | No |
ClinGen 1000Genomes |
|
|
CA216730094 rs973409320 |
441 | A>V | No |
ClinGen TOPMed |
|
|
CA378770174 rs1342149159 |
442 | D>E | No |
ClinGen gnomAD |
|
|
rs775551109 CA5754908 |
442 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754909 rs761995871 |
443 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772208840 CA5754910 |
443 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378770199 rs1167193072 |
444 | G>D | No |
ClinGen TOPMed |
|
|
rs760900519 CA5754912 |
444 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590760906 CA378770221 |
445 | D>A | No |
ClinGen Ensembl |
|
|
rs754270044 CA5754914 |
446 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5754916 rs765792317 |
447 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5754915 rs759816435 |
447 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5754917 rs765792317 |
447 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199941379 CA5754920 |
450 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378770351 rs1436363775 |
450 | H>Y | No |
ClinGen gnomAD |
|
|
rs377752918 CA5754923 |
451 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377752918 CA5754922 |
451 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378770403 rs1194474601 |
452 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5754925 rs780142071 |
452 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590760966 CA378770436 |
453 | S>A | No |
ClinGen Ensembl |
|
|
rs773473600 CA5754928 |
453 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA216730174 rs527740457 |
454 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5754929 rs201866720 |
454 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280566530 CA378770491 |
455 | P>L | No |
ClinGen gnomAD |
|
|
rs1463205331 CA378770484 |
455 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759959282 CA5754932 |
456 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378770566 rs1296247524 |
458 | S>A | No |
ClinGen gnomAD |
|
|
CA5754935 rs138083892 |
459 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754936 rs764566188 |
460 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751124584 CA5754937 |
461 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs548835632 CA5754938 |
462 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142699590 CA5754940 |
462 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754939 rs142699590 |
462 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5754941 rs756002088 |
463 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs779943639 CA5754942 |
464 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378770702 rs1590761055 |
465 | V>G | No |
ClinGen Ensembl |
|
|
CA216730232 rs951699019 |
466 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5754945 rs778710643 |
466 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA216730242 rs889723685 |
468 | L>P | No |
ClinGen Ensembl |
|
|
rs879520950 CA216730243 |
469 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs770169468 CA5754950 |
470 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378770782 rs1271171583 |
471 | R>S | No |
ClinGen gnomAD |
|
|
CA5754951 rs373996096 |
471 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145933816 CA5754952 |
472 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5754953 rs764656431 |
473 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1214092451 CA378770798 |
473 | H>R | No |
ClinGen gnomAD |
|
|
rs1026024943 CA216730276 |
474 | T>A | No |
ClinGen TOPMed |
|
|
rs138536011 CA5754954 |
475 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378770852 rs1590761113 |
477 | V>G | No |
ClinGen Ensembl |
|
|
rs367621280 CA5754956 |
477 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750109823 CA5754957 |
478 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754959 rs371372602 |
479 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs535458705 CA378770874 |
480 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535458705 CA5754960 |
480 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5754961 rs754806865 |
481 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs778923580 CA5754962 |
482 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 483 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781085155 CA378770999 |
485 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754965 rs781085155 |
485 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754967 rs770045919 |
489 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590761179 CA378771093 |
490 | V>G | No |
ClinGen Ensembl |
|
|
rs1479507938 CA378771078 |
490 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1590761191 CA378771122 |
492 | D>G | No |
ClinGen Ensembl |
|
|
rs768831479 CA5754972 |
493 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs980346218 CA216730324 |
499 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 503 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373032449 CA378771365 |
505 | P>L | No |
ClinGen gnomAD |
|
|
rs768043921 CA5754976 |
506 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1488918443 CA378771393 |
507 | R>C | No |
ClinGen TOPMed |
|
|
CA378771463 rs1404570802 |
511 | I>F | No |
ClinGen Ensembl |
|
|
CA378771472 rs1413853148 |
511 | I>M | No |
ClinGen gnomAD |
|
|
rs369979581 CA216730340 |
514 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369979581 CA5754979 |
514 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753483839 CA5754980 |
514 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230313207 CA378771544 |
516 | K>E | No |
ClinGen TOPMed |
|
|
CA5754982 rs764902596 |
519 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM415105 rs891852118 CA216730343 |
519 | G>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA378771662 rs1210357797 |
521 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1210357797 CA378771659 |
521 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5754983 rs752704577 |
521 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5754985 rs777738727 |
524 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs144499788 CA5754986 |
524 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756176568 CA5754987 |
525 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780254365 COSM683951 CA5754988 |
526 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1391096602 CA378771772 |
527 | K>Q | No |
ClinGen gnomAD |
|
|
CA216730380 rs764927480 |
529 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5754995 rs773841605 |
534 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773841605 CA5754994 |
534 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5754993 rs772519788 |
534 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs948652539 CA216730417 |
535 | T>A | No |
ClinGen TOPMed |
|
|
CA216730421 rs878904068 |
536 | T>M | No |
ClinGen Ensembl |
|
|
CA378772006 rs1346832144 |
541 | I>V | No |
ClinGen gnomAD |
|
|
CA5754999 rs764923411 |
548 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752477315 CA5755000 |
553 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210910153 CA378772241 |
554 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378772243 rs1210910153 |
554 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1045618387 CA216730429 |
557 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762806412 CA5755001 |
557 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA378772309 rs762806412 |
557 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA216730440 rs961787811 |
561 | G>V | No |
ClinGen Ensembl |
|
|
CA5755004 rs756213223 |
563 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396502563 CA378772434 |
564 | R>G | No |
ClinGen gnomAD |
|
|
COSM3382757 rs1414739332 CA378772438 |
564 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1396502563 CA378772435 |
564 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 567 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906867824 CA216730465 |
567 | I>V | No |
ClinGen TOPMed |
|
|
rs779190098 CA5755008 |
569 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755193557 CA5755007 |
569 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321087342 CA378772594 |
572 | N>K | No |
ClinGen gnomAD |
|
|
rs1212800697 CA378772623 |
574 | A>G | No |
ClinGen TOPMed |
|
|
CA216730487 rs867348052 |
574 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 574 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378772646 rs1438407423 |
576 | H>Y | No |
ClinGen gnomAD |
|
|
rs971536848 CA216730495 |
577 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378772715 rs1240213432 |
579 | P>L | No |
ClinGen gnomAD |
|
|
rs1315151079 CA378772786 |
582 | R>T | No |
ClinGen gnomAD |
|
|
CA5755018 rs762657112 |
590 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q6NUJ5
1 regional properties for Q6NUJ5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PWWP domain | 488 - 573 | IPR000313 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| NuRD complex binding | Binding to a NuRD complex. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of histone acetylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
| negative regulation of histone H3-K27 acetylation | Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K27 acetylation. |
| negative regulation of histone H3-K9 acetylation | Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K9 acetylation. |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| regulation of cold-induced thermogenesis | Any process that modulates the frequency, rate or extent of cold-induced thermogenesis. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPRAGCRLP | VRVEQVVNGA | LVVTVSCGER | SFAGILLDCT | KKSGLFGLPP | LAPLPQVDES |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVNDSHGRAP | EEGDAEVMQL | GSSSPPPARG | VQPPETTRPE | PPPPLVPPLP | AGSLPPYPPY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEGAPFPHPL | WLRDTYKLWV | PQPPPRTIKR | TRRRLSRNRD | PGRLILSTIR | LRPRQVLCEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CKSTLSPPEA | SPGPPAAPRA | RRRLGSGPDR | ELRKPEEPEN | GEPTAAATAR | RSKRERREED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RAPAEQVPRS | PVIKISYSTP | QGKGEVVKIP | SRVHGSLEPF | RPQQAPQDDG | SQDPEVLDRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRDRPSCAPS | ASIPKLKLTR | PVPAGADLPP | PKIRLKPHRL | GDSEHEPVYR | AELVGELNGY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRDSSPAPCA | DGPAGGLADL | SSGSSGEDDD | FKSCPQGPQG | REGLAFLVSC | PEGRADCASE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SACSSDSLDE | ARSSGSEGTP | ADTGDLSPGH | GASAPSVSRE | ARQTVPPLTV | RLHTQSVSEC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITEDGRTVAV | GDIVWGKIHG | FPWWPARVLD | ISLGQKEDGE | PSWREAKVSW | FGSPTTSFLS |
| 550 | 560 | 570 | 580 | ||
| ISKLSPFSEF | FKLRFNRKKK | GMYRKAITEA | ANAARHVAPE | IRELLTQFET |