Q9HD90
PR
Gene name |
NEUROD4 (ATH3, ATOH3, BHLHA4) |
Protein name |
Neurogenic differentiation factor 4 |
Names |
NeuroD4, Class A basic helix-loop-helix protein 4, bHLHa4, Protein atonal homolog 3, ATH-3, Atoh3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:58158 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9HD90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HD90-F1 | Predicted | AlphaFoldDB |
329 variants for Q9HD90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs368084002 CA237489442 |
2 | S>P | No |
ClinGen ESP TOPMed |
|
|
rs937465841 CA237489443 |
3 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 4 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 4 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385145074 rs1191243307 |
5 | F>S | No |
ClinGen gnomAD |
|
|
rs1489186667 CA385145067 |
5 | F>V | No |
ClinGen gnomAD |
|
|
rs771431401 CA6611521 |
6 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6611522 rs777347489 |
9 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422498225 CA385145151 |
9 | K>N | No |
ClinGen gnomAD |
|
|
rs1432072739 CA385145159 |
10 | E>K | No |
ClinGen gnomAD |
|
|
rs1159460337 CA385145179 |
11 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611523 rs746307205 |
13 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611525 rs776191414 |
14 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770416197 CA6611524 |
14 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779914967 CA237489482 |
15 | V>F | No |
ClinGen Ensembl |
|
|
rs1057307835 CA237489487 |
16 | N>H | No |
ClinGen TOPMed |
|
|
rs1273558087 CA385145281 |
16 | N>K | No |
ClinGen gnomAD |
|
|
rs146025088 CA6611527 |
17 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1010516889 CA237489501 |
17 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6611530 rs530893583 |
18 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756974804 CA6611529 |
18 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282773164 CA385145319 |
19 | S>C | No |
ClinGen TOPMed |
|
|
CA385145321 rs1282773164 |
19 | S>F | No |
ClinGen TOPMed |
|
|
rs1446722837 CA385145311 |
19 | S>T | No |
ClinGen TOPMed |
|
|
CA6611534 COSM694616 rs552404160 |
21 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA385145352 rs766281745 |
21 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6611533 rs766281745 |
21 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6611536 rs765100149 |
22 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611535 rs754687800 |
22 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752231699 CA6611537 |
24 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6611538 rs758070208 |
24 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA385145514 rs1386298306 |
30 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA237489582 rs902216883 |
30 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6611541 rs756871633 |
33 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765729334 CA237489604 |
35 | E>* | No |
ClinGen Ensembl |
|
|
rs139984818 CA6611543 |
35 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385145598 rs1374710809 |
36 | S>G | No |
ClinGen gnomAD |
|
|
CA6611544 rs768847510 |
36 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315970214 CA385145654 |
39 | G>C | No |
ClinGen gnomAD |
|
|
rs1287392148 CA385145709 |
42 | G>E | No |
ClinGen gnomAD |
|
|
CA6611547 rs772325000 |
44 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6611548 rs773471295 |
45 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385145832 rs1344318203 |
50 | E>D | No |
ClinGen TOPMed |
|
|
CA6611549 rs760713144 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766474697 CA6611550 |
51 | H>Q | No |
ClinGen ExAC |
|
|
rs1456050453 CA385145842 |
51 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1177684377 CA385145863 |
52 | D>E | No |
ClinGen gnomAD |
|
|
CA6611551 rs776500727 |
53 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759528480 CA6611552 |
54 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764870162 CA6611556 |
61 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411045177 CA385146063 |
63 | D>G | No |
ClinGen gnomAD |
|
|
rs1240442756 CA385146055 |
63 | D>N | No |
ClinGen gnomAD |
|
|
CA385146084 rs142138121 |
64 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142138121 CA6611557 |
64 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385146075 rs1173421225 |
64 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs142138121 CA6611558 |
64 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371817262 CA237489648 |
65 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371817262 CA6611559 |
65 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611560 rs751292953 |
66 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs554040656 CA237489708 |
68 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237489666 rs543698528 |
68 | K>Q | No |
ClinGen Ensembl |
|
|
rs76064726 CA6611563 |
68 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs76064726 VAR_012979 CA6611562 |
68 | K>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs755506417 CA6611565 |
69 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA237489722 rs964503239 |
70 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748523630 CA6611567 |
71 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs772363092 TCGA novel CA6611568 |
71 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs747252458 CA6611570 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA237489767 rs996381904 |
74 | K>E | No |
ClinGen TOPMed |
|
|
CA385146275 rs1263153883 |
74 | K>T | No |
ClinGen gnomAD |
|
|
rs1350073115 CA385146292 |
75 | K>E | No |
ClinGen TOPMed |
|
|
rs770938156 CA6611571 |
75 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237489772 rs994192818 |
77 | M>I | No |
ClinGen TOPMed |
|
|
rs776693659 CA6611572 |
77 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6611573 rs759598466 |
78 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6611574 rs769753493 |
79 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs769753493 CA237489801 |
79 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | A>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775333717 CA6611575 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565874557 CA237489820 |
80 | A>V | No |
ClinGen 1000Genomes |
|
|
CA6611576 rs762773158 |
81 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6611577 rs764006660 |
81 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611578 rs751201295 |
82 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385146458 rs1404388209 |
83 | E>K | No |
ClinGen gnomAD |
|
|
rs369801956 CA6611579 |
85 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA237489840 rs954606969 |
85 | F>L | No |
ClinGen Ensembl |
|
|
rs1401570589 CA385146519 |
86 | R>G | No |
ClinGen TOPMed |
|
|
rs1333622504 CA385146545 |
87 | A>V | No |
ClinGen gnomAD |
|
|
COSM271777 CA385146547 rs1341073987 |
88 | R>* | large_intestine Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA237489852 rs754528345 |
88 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6611580 rs767345988 |
89 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs767345988 CA6611581 |
89 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA237489875 rs907872640 |
90 | V>I | No |
ClinGen Ensembl |
|
|
rs866926314 CA385146595 |
92 | A>S | No |
ClinGen gnomAD |
|
|
CA237489884 rs866926314 |
92 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1362845 CA6611585 rs139282092 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198179899 CA385146664 COSM298739 |
97 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA385146674 rs1565597059 |
98 | T>P | No |
ClinGen Ensembl |
|
|
rs372356966 CA6611587 |
99 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385146688 rs1409059582 |
99 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 100 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450931108 CA385146696 |
100 | M>L | No |
ClinGen gnomAD |
|
|
rs1261725648 CA385146720 |
101 | H>Q | No |
ClinGen gnomAD |
|
|
rs1478325938 CA385146716 |
101 | H>R | No |
ClinGen TOPMed |
|
|
CA6611589 rs781323238 |
106 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6611590 rs781323238 |
106 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385146817 rs1385760522 |
108 | D>E | No |
ClinGen gnomAD |
|
|
rs775453579 CA6611592 |
108 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611593 rs762815175 |
110 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1358592995 CA385146857 |
111 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6611594 rs768501269 |
112 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611596 rs778488273 |
112 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747569844 CA237489960 |
114 | M>I | No |
ClinGen Ensembl |
|
|
rs1332405087 CA385146922 |
115 | P>A | No |
ClinGen gnomAD |
|
|
rs1318245705 CA385146941 |
116 | C>S | No |
ClinGen TOPMed |
|
|
rs917452012 CA237489968 |
118 | S>P | No |
ClinGen Ensembl |
|
|
CA385147035 rs1292436957 |
120 | T>S | No |
ClinGen TOPMed |
|
|
rs767256029 CA6611597 |
121 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385147077 rs760192016 |
122 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs765828652 CA6611600 |
124 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs546429871 CA237489994 |
126 | I>T | No |
ClinGen Ensembl |
|
|
rs1210754380 CA385147154 |
127 | E>G | No |
ClinGen gnomAD |
|
|
rs1302972142 CA385147170 |
128 | T>I | No |
ClinGen TOPMed |
|
|
rs1450315862 CA385147192 |
130 | R>S | No |
ClinGen gnomAD |
|
|
rs374938415 CA6611604 |
131 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611605 rs148766358 |
133 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592454779 CA385147231 COSM1628691 |
134 | N>D | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM549108 CA385147277 rs1310464333 |
137 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 137 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138082041 COSM109740 CA237490030 |
137 | W>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA385147287 rs904781631 |
138 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs904781631 CA237490066 |
138 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA237490072 rs560042772 |
140 | S>T | No |
ClinGen Ensembl |
|
|
rs147949189 CA237490073 |
140 | S>Y | No |
ClinGen ESP TOPMed |
|
|
CA385147338 rs1419032933 |
141 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777658108 CA237490074 |
142 | V>A | No |
ClinGen gnomAD |
|
|
CA385147385 rs1176725499 |
144 | E>G | No |
ClinGen TOPMed |
|
|
rs746104061 CA6611607 |
145 | T>A | No |
ClinGen ExAC |
|
| TCGA novel | 147 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756163190 CA6611608 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348950205 COSM941215 CA385147484 |
151 | G>R | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6611610 rs749447870 |
152 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs576900577 CA6611611 |
152 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237490113 rs867754548 |
153 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385147552 rs1468202636 |
155 | V>A | No |
ClinGen TOPMed |
|
|
rs1354664124 CA385147563 |
156 | E>D | No |
ClinGen gnomAD |
|
|
rs1209662916 CA385147610 |
160 | K>E | No |
ClinGen gnomAD |
|
|
rs1242312442 CA385147665 |
163 | S>C | No |
ClinGen TOPMed |
|
|
COSM1476713 rs1053470935 CA237490117 |
164 | Q>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6611612 rs774479458 |
165 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs372637889 CA6611613 |
166 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA237490138 rs900225265 |
167 | S>G | No |
ClinGen gnomAD |
|
|
rs772872133 CA6611615 |
168 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6611614 rs771793181 |
168 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs760256637 CA6611616 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs995961743 CA237490147 |
170 | V>A | No |
ClinGen Ensembl |
|
|
CA6611617 rs765846574 |
171 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775997882 CA6611618 |
172 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385147876 rs1328957916 |
173 | C>R | No |
ClinGen gnomAD |
|
|
rs1313292120 CA385147920 |
175 | Q>K | No |
ClinGen TOPMed |
|
|
rs141873771 CA6611620 |
175 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6611622 rs752097912 |
176 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA385147941 rs752097912 |
176 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767790393 CA6611623 |
177 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs767790393 CA237490176 |
177 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs868178075 CA237490187 COSM139961 |
178 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1323762145 CA385148018 |
179 | Q>H | No |
ClinGen gnomAD |
|
|
rs1222709219 CA385148011 |
179 | Q>R | No |
ClinGen TOPMed |
|
|
CA6611624 rs750594973 |
180 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259125473 CA385148046 |
181 | V>L | No |
ClinGen gnomAD |
|
|
rs780382430 CA6611626 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6611627 rs749358204 |
186 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA385148149 rs1332774671 |
186 | H>Y | No |
ClinGen TOPMed |
|
|
rs542126894 CA6611629 |
187 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368158426 CA6611631 |
188 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611630 rs151143558 |
188 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1186881181 CA385148264 |
191 | P>A | No |
ClinGen gnomAD |
|
|
CA6611633 rs746886568 |
192 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772885514 CA6611632 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611635 rs140138045 |
193 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466069901 CA385148332 |
194 | D>E | No |
ClinGen gnomAD |
|
|
CA6611636 rs759012157 |
195 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6611637 rs764754106 |
196 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417842311 CA385148363 |
196 | A>T | No |
ClinGen TOPMed |
|
|
CA385148386 rs764754106 |
196 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385148388 rs963332951 |
197 | I>L | No |
ClinGen gnomAD |
|
|
CA237490300 rs963332951 |
197 | I>V | No |
ClinGen gnomAD |
|
|
CA385148443 rs1342756561 |
200 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385148465 rs1217236172 |
201 | N>S | No |
ClinGen gnomAD |
|
|
rs530830280 CA6611639 |
204 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530830280 CA6611640 |
204 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6611641 rs750742175 |
206 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6611642 rs191997006 COSM246013 |
207 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs191997006 CA385148569 |
207 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237490339 rs896847696 |
208 | G>E | No |
ClinGen TOPMed |
|
|
CA6611644 rs754144758 |
209 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6611645 rs755059186 |
210 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs376574495 CA237490382 |
211 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs149631320 CA6611648 |
215 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265973123 CA385148736 |
216 | H>R | No |
ClinGen TOPMed |
|
|
CA385148825 rs1351410454 |
220 | H>L | No |
ClinGen TOPMed |
|
|
rs777820884 CA6611651 |
220 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592455105 CA385148856 |
221 | L>P | No |
ClinGen Ensembl |
|
|
rs118105704 CA6611652 |
223 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363047135 CA385148922 |
225 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6611654 rs770795909 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565597313 CA385148975 |
227 | Q>E | No |
ClinGen Ensembl |
|
|
CA385148996 rs1185040435 |
228 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6611655 rs780779394 |
229 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237490471 rs1014127839 |
230 | K>R | No |
ClinGen TOPMed |
|
|
rs1014127839 CA385149039 |
230 | K>T | No |
ClinGen TOPMed |
|
|
CA6611656 rs34426727 |
232 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774978795 CA385149084 |
233 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs774978795 CA6611658 |
233 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 234 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1705755 CA385149111 rs1241017522 |
235 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA385149108 rs1241017522 |
235 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA385149170 rs1159351809 |
239 | S>R | No |
ClinGen TOPMed |
|
|
CA6611660 rs772438217 |
240 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936283356 CA385149267 |
244 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766873611 CA6611663 |
244 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237490511 rs936283356 |
244 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6611664 rs754054780 |
245 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1453231685 CA385149297 |
246 | T>I | No |
ClinGen gnomAD |
|
|
rs1453231685 CA385149293 |
246 | T>K | No |
ClinGen gnomAD |
|
|
CA385149313 rs1418417809 |
247 | P>H | No |
ClinGen gnomAD |
|
|
rs201733787 CA6611666 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385149325 rs1350823449 |
248 | P>L | No |
ClinGen gnomAD |
|
|
rs1185680888 CA385149316 |
248 | P>T | No |
ClinGen TOPMed |
|
|
rs1439114312 CA385149336 |
249 | Y>C | No |
ClinGen gnomAD |
|
|
CA6611670 rs144244976 |
250 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385149342 rs1367210290 |
250 | E>K | No |
ClinGen gnomAD |
|
|
CA385149362 rs1311574833 |
251 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6611672 rs751543399 |
253 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745732402 COSM941226 CA6611675 |
260 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1398489959 CA385149491 |
261 | G>E | No |
ClinGen TOPMed |
|
|
rs138736130 CA6611677 |
262 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237490672 rs778420368 |
262 | N>S | No |
ClinGen Ensembl |
|
|
CA6611676 rs769426820 |
262 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548205870 CA237490693 |
265 | L>W | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 266 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385149553 rs1592455255 |
266 | K>Q | No |
ClinGen Ensembl |
|
|
CA6611678 rs748718626 |
267 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437345513 CA385149596 |
268 | D>G | No |
ClinGen gnomAD |
|
|
rs1365935590 CA385149605 |
269 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1466778079 CA385149649 COSM169477 |
271 | P>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA385149646 rs1592455277 |
271 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169507555 CA385149714 |
276 | S>P | No |
ClinGen TOPMed |
|
|
rs1393947862 CA385149735 |
277 | Y>C | No |
ClinGen gnomAD |
|
|
CA385149785 rs777128536 |
280 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6611683 rs777128536 |
280 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA385149804 rs1374745200 |
281 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6611684 rs201275873 |
282 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611685 rs765530401 |
283 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144650862 CA6611687 |
284 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs547320662 CA6611690 |
284 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6611689 rs144650862 |
284 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144650862 CA6611688 |
284 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941176546 CA237490851 |
286 | S>L | No |
ClinGen Ensembl |
|
|
CA6611692 rs148505788 |
287 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750200619 CA6611693 |
288 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA385149915 rs1180512779 |
289 | S>N | No |
ClinGen gnomAD |
|
|
CA6611694 rs755943497 |
289 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474068393 CA385149924 |
290 | S>P | No |
ClinGen gnomAD |
|
|
rs748993847 CA6611696 |
292 | H>N | No |
ClinGen ExAC |
|
|
CA6611697 rs754389447 |
292 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA237490941 rs992833846 |
294 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA237490944 rs867913686 |
299 | Q>* | No |
ClinGen gnomAD |
|
|
rs867913686 CA385150051 |
299 | Q>E | No |
ClinGen gnomAD |
|
|
rs199793194 CA385150084 |
301 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199793194 CA6611699 |
301 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6611702 rs777326419 COSM1705758 |
302 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6611700 rs201995432 |
302 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611701 rs777326419 |
302 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770309904 CA6611703 |
303 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs562134461 CA6611704 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM694612 CA6611705 rs763246217 |
304 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385150122 rs763246217 |
304 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562134461 CA385150108 |
304 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611706 rs764292195 |
305 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA385150149 rs1235842734 |
306 | D>A | No |
ClinGen Ensembl |
|
|
CA6611708 rs761933343 |
306 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774478814 CA6611707 |
306 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385150140 rs774478814 |
306 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6611709 rs767412634 |
307 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1443708917 CA385150220 |
309 | I>M | No |
ClinGen gnomAD |
|
|
CA6611710 rs377673443 |
309 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385150222 COSM1362849 rs1208621935 |
310 | D>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA385150248 rs1196335273 |
311 | M>I | No |
ClinGen gnomAD |
|
|
rs755857208 CA6611711 |
311 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611712 rs766211751 |
311 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611713 rs753364277 |
313 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385150268 rs1421688834 |
313 | Y>H | No |
ClinGen gnomAD |
|
|
CA385150317 rs1427344225 |
315 | S>F | Variant assessed as Somatic; 9.283e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754652249 CA6611714 |
315 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6611715 rs778487708 |
316 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA237491092 rs926163900 |
317 | P>H | No |
ClinGen gnomAD |
|
|
rs747671309 CA6611716 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs148711348 CA6611719 |
318 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385150377 rs1299823372 |
318 | H>R | No |
ClinGen gnomAD |
|
|
rs371227002 CA6611717 |
318 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6611720 COSM549103 rs574707374 |
319 | H>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs921590333 CA385150404 |
319 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1231490237 CA385150428 |
320 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1346475889 CA385150415 |
320 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385150413 rs1346475889 |
320 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6611721 rs775921957 |
323 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361253451 CA385150574 |
328 | V>G | No |
ClinGen gnomAD |
|
|
rs768906114 CA6611723 |
328 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6611724 rs774480327 |
329 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335312984 CA385150608 |
330 | T>I | No |
ClinGen TOPMed |
|
|
rs1565597647 CA385150614 |
331 | E>K | No |
ClinGen Ensembl |
|
|
rs1446850420 CA385150647 |
332 | E>R | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9HD90
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
| 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. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| amacrine cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an amacrine cell, an interneuron generated in the inner nuclear layer (INL) of the vertebrate retina. Amacrine cells integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. Amacrine cells lack large axons. |
| cell fate commitment | The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. |
| motor neuron migration | The orderly movement of a motor neuron from one site to another. A motor neuron is an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. |
| neuroblast proliferation | The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKTFVKSKE | MGELVNTPSW | MDKGLGSQNE | VKEEESRPGT | YGMLSSLTEE | HDSIEEEEEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEDGEKPKRR | GPKKKKMTKA | RLERFRARRV | KANARERTRM | HGLNDALDNL | RRVMPCYSKT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QKLSKIETLR | LARNYIWALS | EVLETGQTPE | GKGFVEMLCK | GLSQPTSNLV | AGCLQLGPQS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLLEKHEDKS | PICDSAISVH | NFNYQSPGLP | SPPYGHMETH | LLHLKPQVFK | SLGESSFGSH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPDCSTPPYE | GPLTPPLSIS | GNFSLKQDGS | PDLEKSYSFM | PHYPSSSLSS | GHVHSTPFQA |
| 310 | 320 | 330 | |||
| GTPRYDVPID | MSYDSYPHHG | IGTQLNTVFT | E |