Q96MU7
PR
Gene name |
YTHDC1 |
Protein name |
YTH domain-containing protein 1 |
Names |
Splicing factor YT521, YT521-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91746 |
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
102 structures for Q96MU7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YUD | NMR | - | A | 337-509 | PDB |
| 4R3H | X-ray | 190 A | A/B | 345-509 | PDB |
| 4R3I | X-ray | 180 A | A | 345-509 | PDB |
| 6RT4 | X-ray | 149 A | A/B | 345-509 | PDB |
| 6RT5 | X-ray | 230 A | B/C | 345-509 | PDB |
| 6RT6 | X-ray | 146 A | B/C | 345-509 | PDB |
| 6RT7 | X-ray | 173 A | B/C | 345-509 | PDB |
| 6SYZ | X-ray | 228 A | A/B | 345-509 | PDB |
| 6SZ1 | X-ray | 175 A | A/B | 345-509 | PDB |
| 6SZ2 | X-ray | 152 A | A/B | 345-509 | PDB |
| 6SZ3 | X-ray | 128 A | A/B | 345-509 | PDB |
| 6SZL | X-ray | 145 A | A/B | 345-509 | PDB |
| 6SZN | X-ray | 147 A | A/B | 345-509 | PDB |
| 6SZR | X-ray | 164 A | A/B | 345-509 | PDB |
| 6SZT | X-ray | 150 A | A/B | 345-509 | PDB |
| 6SZX | X-ray | 117 A | A/B | 345-509 | PDB |
| 6SZY | X-ray | 179 A | A/B | 345-509 | PDB |
| 6T01 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6T02 | X-ray | 110 A | A/B | 345-509 | PDB |
| 6T03 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6T04 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6T05 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6T06 | X-ray | 240 A | A/B | 345-509 | PDB |
| 6T07 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6T08 | X-ray | 141 A | A/B | 345-509 | PDB |
| 6T09 | X-ray | 175 A | A/B | 345-509 | PDB |
| 6T0A | X-ray | 202 A | A/B | 345-509 | PDB |
| 6T0C | X-ray | 203 A | A/B | 345-509 | PDB |
| 6T0D | X-ray | 143 A | A/B | 345-509 | PDB |
| 6T0O | X-ray | 171 A | A/B | 345-509 | PDB |
| 6T0X | X-ray | 136 A | A/B | 345-509 | PDB |
| 6T0Z | X-ray | 143 A | A/B | 345-509 | PDB |
| 6T10 | X-ray | 148 A | A/B | 345-509 | PDB |
| 6T11 | X-ray | 149 A | A/B | 345-509 | PDB |
| 6T12 | X-ray | 146 A | A/B | 345-509 | PDB |
| 6WE8 | X-ray | 118 A | A/B | 345-509 | PDB |
| 6WE9 | X-ray | 159 A | A/C | 345-509 | PDB |
| 6WEA | X-ray | 180 A | A/B/C/D | 345-509 | PDB |
| 6YKE | X-ray | 152 A | A/B | 345-509 | PDB |
| 6YKI | X-ray | 130 A | A/B | 345-509 | PDB |
| 6YKJ | X-ray | 160 A | A/B | 345-509 | PDB |
| 6YKZ | X-ray | 120 A | A/B | 345-509 | PDB |
| 6YL0 | X-ray | 120 A | A/B | 345-509 | PDB |
| 6YL8 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YL9 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YM2 | X-ray | 170 A | A/B | 345-509 | PDB |
| 6YM8 | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YNI | X-ray | 136 A | A/B | 345-509 | PDB |
| 6YNJ | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YNK | X-ray | 130 A | A/B | 345-509 | PDB |
| 6YNL | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YNM | X-ray | 150 A | A/B | 345-509 | PDB |
| 6YNN | X-ray | 120 A | A/B | 345-509 | PDB |
| 6YNO | X-ray | 140 A | A/B | 345-509 | PDB |
| 6YNP | X-ray | 110 A | A/B | 345-509 | PDB |
| 6YOQ | X-ray | 130 A | A/B | 345-509 | PDB |
| 6ZCM | X-ray | 124 A | A/B | 345-509 | PDB |
| 6ZCN | X-ray | 160 A | A/B | 345-509 | PDB |
| 6ZD9 | X-ray | 151 A | A/B | 345-509 | PDB |
| 7L4X | X-ray | 179 A | B | 345-509 | PDB |
| 7L4Y | X-ray | 179 A | B | 345-509 | PDB |
| 7P87 | X-ray | 130 A | A/B | 345-509 | PDB |
| 7P88 | X-ray | 150 A | A/B | 345-509 | PDB |
| 7P8A | X-ray | 170 A | A/B | 345-509 | PDB |
| 7P8B | X-ray | 120 A | A/B | 345-509 | PDB |
| 7P8F | X-ray | 150 A | A/B | 345-509 | PDB |
| 7PJ7 | X-ray | 141 A | A/B | 345-509 | PDB |
| 7PJ8 | X-ray | 140 A | A/B | 345-509 | PDB |
| 7PJ9 | X-ray | 172 A | A/B | 345-509 | PDB |
| 7PJA | X-ray | 185 A | A/B | 345-509 | PDB |
| 7PJB | X-ray | 190 A | A/B | 345-509 | PDB |
| 7PJP | X-ray | 161 A | A/B | 345-509 | PDB |
| 7PJQ | X-ray | 120 A | A/B | 345-509 | PDB |
| 7PO6 | X-ray | 177 A | A/B/C | 345-509 | PDB |
| 8Q2Q | X-ray | 130 A | A/B | 345-509 | PDB |
| 8Q2R | X-ray | 160 A | A/B | 345-509 | PDB |
| 8Q2S | X-ray | 141 A | A/B | 345-509 | PDB |
| 8Q2T | X-ray | 141 A | A/B | 345-509 | PDB |
| 8Q2U | X-ray | 136 A | A/B | 345-509 | PDB |
| 8Q2V | X-ray | 171 A | A/B | 345-509 | PDB |
| 8Q2W | X-ray | 141 A | A/B | 345-509 | PDB |
| 8Q2X | X-ray | 160 A | A/B | 345-509 | PDB |
| 8Q2Y | X-ray | 171 A | A/B | 345-509 | PDB |
| 8Q31 | X-ray | 132 A | A/B | 345-509 | PDB |
| 8Q32 | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q33 | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q35 | X-ray | 131 A | A/B | 345-509 | PDB |
| 8Q37 | X-ray | 128 A | A/B | 345-509 | PDB |
| 8Q38 | X-ray | 142 A | A/B | 345-509 | PDB |
| 8Q39 | X-ray | 142 A | A/B | 345-509 | PDB |
| 8Q3A | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q3G | X-ray | 142 A | A/B | 345-509 | PDB |
| 8Q4M | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q4N | X-ray | 142 A | A/B | 345-509 | PDB |
| 8Q4P | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q4Q | X-ray | 140 A | A/B | 345-509 | PDB |
| 8Q4R | X-ray | 143 A | A/B | 345-509 | PDB |
| 8Q4T | X-ray | 151 A | A/B | 345-509 | PDB |
| 8Q4U | X-ray | 137 A | A/B | 345-509 | PDB |
| 8Q4V | X-ray | 136 A | A/B | 345-509 | PDB |
| 8Q4W | X-ray | 161 A | A/B | 345-509 | PDB |
| AF-Q96MU7-F1 | Predicted | AlphaFoldDB |
459 variants for Q96MU7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2941563 rs760061027 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs765677771 CA2941564 |
2 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA2941561 rs766774729 |
3 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760929118 CA2941560 |
4 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
CA2941558 rs748111740 |
5 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941557 rs748111740 |
5 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774583757 CA2941556 |
6 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs1277216016 CA357080001 |
6 | R>W | No |
ClinGen gnomAD |
|
|
TCGA novel rs1386824913 CA357079984 |
8 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs898807739 CA98747640 |
8 | E>G | No |
ClinGen Ensembl |
|
|
rs770752862 CA2941533 |
11 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414235889 CA357079872 |
23 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357079755 rs1258693749 |
38 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
CA357079739 rs1189970943 |
40 | N>K | No |
gnomAD ClinGen |
|
|
CA357079737 rs1445790315 |
41 | E>K | No |
ClinGen gnomAD |
|
|
CA357079729 rs1206239710 |
42 | K>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 43 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2941509 rs770713864 |
50 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1440341478 CA357079647 |
51 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1440341478 CA357079649 |
51 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777692674 CA2941507 |
52 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357079643 rs1325827493 |
52 | M>K | No |
gnomAD ClinGen |
|
|
CA357079645 rs1350539342 |
52 | M>L | No |
ClinGen gnomAD |
|
|
CA357079627 rs1401155034 |
54 | S>Y | No |
ClinGen TOPMed |
|
|
rs903633944 CA98738519 |
55 | T>A | No |
TOPMed ClinGen |
|
|
rs1396262978 CA357079622 |
55 | T>S | No |
gnomAD ClinGen |
|
|
CA357079618 rs1021974425 |
56 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1021974425 CA98738516 |
56 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747785716 CA357079609 |
57 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941506 rs747785716 |
57 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941505 rs747785716 |
57 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98738503 rs367764253 |
59 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
COSM1056843 CA2941504 rs367764253 |
59 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 60 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357079593 rs1477431545 |
60 | Q>R | No |
gnomAD ClinGen |
|
|
rs1246759930 CA357079586 |
61 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA357079551 rs1578063545 |
66 | S>F | No |
ClinGen Ensembl |
|
|
CA357079549 rs1205537410 |
67 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278195187 CA357079531 |
69 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756535626 CA2941500 |
70 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs781384584 CA2941498 |
71 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs903785175 CA357079503 |
74 | L>Q | No |
ClinGen gnomAD |
|
|
rs903785175 CA98738472 |
74 | L>R | No |
ClinGen gnomAD |
|
|
rs371539554 COSM1291947 CA2941496 |
75 | S>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ESP ExAC gnomAD ClinGen cosmic curated |
|
rs200076950 CA98738467 |
76 | S>P | No |
gnomAD ClinGen |
|
|
CA2941494 rs376644205 |
77 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2941491 rs140408313 |
82 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1182448238 CA357079436 |
84 | I>M | No |
gnomAD ClinGen |
|
|
rs201696087 CA2941489 |
84 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs773259637 COSM1270643 CA2941490 |
84 | I>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2941487 rs774149098 |
86 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA2941486 rs768251263 |
86 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357079423 rs1312630425 |
87 | T>P | No |
gnomAD ClinGen |
|
|
CA2941485 rs748967846 |
88 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA2941484 rs779397670 |
89 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1411872530 CA357079401 |
90 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA98738359 rs111835871 |
94 | E>G | No |
Ensembl ClinGen |
|
| TCGA novel | 94 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2941482 rs746343681 |
95 | Y>C | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 97 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357079340 rs1294379406 |
98 | E>A | No |
TOPMed gnomAD ClinGen |
|
|
CA357079345 rs1449401427 |
98 | E>K | No |
ClinGen gnomAD |
|
|
CA2941481 rs781756552 |
100 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357079312 rs1331392471 |
101 | Q>E | No |
ClinGen TOPMed |
|
|
rs1235436044 CA357079297 |
102 | R>T | No |
ClinGen TOPMed |
|
|
rs1215582947 CA357079284 |
103 | S>F | No |
gnomAD ClinGen |
|
|
CA357079252 rs1159511684 |
106 | N>K | No |
gnomAD ClinGen |
|
|
CA2941479 rs751912747 |
106 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA98738317 rs771142455 |
108 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA2941478 rs147602142 |
108 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357079240 rs147602142 |
108 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA98738309 rs147602142 |
108 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs149942939 CA2941476 |
110 | D>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs149942939 CA2941475 |
110 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239203374 CA357079232 |
110 | D>Y | No |
ClinGen gnomAD |
|
|
CA98738291 rs539587806 |
111 | A>G | No |
Ensembl ClinGen |
|
|
rs755153670 CA357079228 |
111 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs755153670 CA2941474 |
111 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs199646486 CA2941472 |
113 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763913969 CA2941469 |
113 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941470 rs199646486 |
113 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357079213 rs1312476962 |
114 | K>E | No |
gnomAD ClinGen |
|
|
rs200384143 CA2941468 |
116 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs139194469 CA2941467 COSM1056842 |
116 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs139194469 CA98738237 COSM1180125 |
116 | R>L | prostate [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs769178759 CA2941466 |
117 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs150806789 CA2941464 |
118 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357079167 rs1455926256 |
121 | A>G | No |
TOPMed ClinGen |
|
|
CA357079161 rs747560522 |
122 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941462 rs747560522 |
122 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941461 rs778261823 |
123 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA98738188 rs962271102 |
123 | R>S | No |
ClinGen gnomAD |
|
|
CA357079144 rs1163599087 |
125 | P>L | No |
ClinGen gnomAD |
|
|
rs141403045 CA2941460 |
126 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1184724307 CA357079133 |
127 | K>E | No |
gnomAD ClinGen |
|
|
CA2941458 rs779128117 |
128 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755173030 CA2941457 |
129 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357079114 rs1210615100 |
129 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2941455 rs140009278 |
130 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357079111 rs535554727 |
130 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2941456 rs535554727 |
130 | P>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs924836320 CA98738167 |
131 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1228313163 CA357079100 |
132 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749020914 CA357079078 |
135 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941453 rs749020914 |
135 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941451 rs142820944 |
136 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763860504 CA2941452 |
136 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed ClinGen NCI-TCGA |
|
CA2941449 rs374885930 |
139 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA357079012 rs1578062394 |
145 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs776165134 CA2941447 |
146 | S>Y | No |
ExAC gnomAD ClinGen |
|
| rs751051650 | 147 | P>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357078991 rs1190398734 |
148 | T>K | No |
gnomAD ClinGen |
|
|
rs186920853 CA357078984 |
150 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2941442 rs186920853 |
150 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186920853 CA2941443 |
150 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1212459996 CA357078978 |
151 | G>S | No |
ClinGen gnomAD |
|
|
CA2941417 rs201993708 |
156 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357078925 rs1401345036 |
157 | L>V | No |
gnomAD ClinGen |
|
|
rs113207987 CA98737987 |
159 | V>A | No |
ClinGen Ensembl |
|
|
CA357078895 rs1395785011 |
161 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA2941415 rs770005288 |
162 | R>C | No |
ExAC TOPMed ClinGen |
|
|
COSM3826087 CA357078890 rs745889803 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2941414 rs745889803 |
162 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA357078885 rs1409836641 |
163 | A>V | No |
gnomAD ClinGen |
|
|
CA2941413 rs781272391 |
164 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357078867 rs1414696010 |
166 | S>P | No |
ClinGen gnomAD |
|
|
CA98737969 rs267600211 |
168 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 168 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752616003 CA2941411 |
168 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA357078843 rs1476584058 |
169 | S>F | No |
Ensembl ClinGen |
|
|
CA357078838 rs1257534823 |
170 | S>C | No |
gnomAD ClinGen |
|
|
CA357078839 rs1257534823 |
170 | S>Y | No |
ClinGen gnomAD |
|
|
CA98737964 rs1036657120 |
171 | K>E | No |
gnomAD ClinGen |
|
|
rs138369404 CA98737961 |
173 | E>D | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA98737959 rs866375265 |
174 | V>A | No |
ClinGen Ensembl |
|
|
rs940922805 CA98737955 |
179 | Y>N | No |
ClinGen Ensembl |
|
|
rs143759794 CA98737952 |
180 | G>D | No |
ESP ClinGen |
|
|
VAR_053746 CA2941410 rs3813832 |
183 | H>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
| TCGA novel | 184 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357078737 rs1290005765 |
185 | T>A | No |
ClinGen gnomAD |
|
|
CA2941409 rs754798178 |
187 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2941408 rs766073192 CA2941407 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2941406 rs760429862 |
189 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357078707 rs1356093803 |
190 | S>P | No |
ClinGen gnomAD |
|
|
CA357078697 rs1560496601 |
191 | S>F | No |
Ensembl ClinGen |
|
|
rs1319929019 CA357078700 |
191 | S>P | No |
ClinGen gnomAD |
|
|
rs1319929019 CA357078701 |
191 | S>T | No |
gnomAD ClinGen |
|
|
rs766978760 CA2941404 |
192 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs762362432 CA2941403 |
194 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1161648478 CA357078670 |
195 | G>A | No |
ClinGen gnomAD |
|
|
rs1369397348 CA357078667 |
196 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1286580755 CA357078656 |
197 | N>S | No |
ClinGen TOPMed |
|
|
CA357078651 rs1474745116 |
198 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA2941400 COSM3428603 rs763156917 |
199 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2941399 rs775841814 |
200 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2941398 rs769954263 |
201 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs549092469 CA2941397 |
202 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1418560842 CA357078624 |
202 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA98737893 rs968940443 |
206 | E>Q | No |
TOPMed ClinGen |
|
|
CA2941395 CA98737889 rs781241976 |
208 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207689854 CA357078551 |
212 | D>G | No |
ClinGen gnomAD |
|
|
CA2941391 rs368814607 |
217 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1560496327 CA357078503 |
218 | D>E | No |
ClinGen Ensembl |
|
|
CA357078502 rs1296754512 |
219 | A>T | No |
gnomAD ClinGen |
|
|
rs1003392222 CA98737859 |
222 | D>E | No |
ClinGen TOPMed |
|
|
rs1035159674 CA98737861 |
222 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs374713572 CA2941387 |
223 | E>G | No |
ClinGen ESP |
|
|
CA2941389 rs749046355 |
223 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878875940 CA98737839 |
225 | V>E | No |
ClinGen Ensembl |
|
|
CA98737836 rs879000775 |
226 | D>E | No |
Ensembl ClinGen |
|
|
rs1165319989 CA357078433 |
228 | D>E | No |
ClinGen gnomAD |
|
|
rs1560496163 CA357078429 |
229 | G>E | No |
ClinGen Ensembl |
|
|
rs780031117 CA2941384 |
231 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941383 rs755799356 |
232 | E>V | No |
ExAC gnomAD ClinGen |
|
|
rs1196314344 CA357078375 |
236 | E>V | No |
gnomAD ClinGen |
|
|
rs1578060798 CA357078363 |
238 | E>Q | No |
ClinGen Ensembl |
|
|
rs1047119992 CA98737779 |
240 | E>D | No |
Ensembl ClinGen |
|
|
rs1211469378 CA357078339 |
241 | E>Q | No |
gnomAD ClinGen |
|
|
CA357078328 rs1273916540 |
242 | E>D | No |
gnomAD ClinGen |
|
|
CA2941368 rs756782245 |
242 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2941356 rs764447396 CA357078280 |
248 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2941354 rs775792492 |
249 | E>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763472870 CA2941355 |
249 | E>K | No |
ClinGen ExAC |
|
|
CA357078270 rs990519175 |
250 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs990519175 CA98737732 |
250 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2941352 rs1553905927 |
250 | Y>H | No |
ClinGen Ensembl |
|
|
CA2941350 rs765628775 |
251 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA357078247 rs1578060333 |
253 | D>E | No |
Ensembl ClinGen |
|
|
CA2941349 rs147760035 |
253 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357078241 rs1325746198 |
254 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1335270118 CA357078238 |
254 | E>D | No |
ClinGen gnomAD |
|
|
rs1325746198 CA357078240 |
254 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1408425168 CA357078233 |
255 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1296772574 CA357078232 |
255 | R>S | No |
ClinGen TOPMed |
|
|
rs1408425168 CA357078235 |
255 | R>T | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 256 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2941348 rs776786155 |
257 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA357078204 rs1560495671 |
259 | E>A | No |
Ensembl ClinGen |
|
| TCGA novel | 259 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287068156 CA357078185 |
262 | N>H | No |
ClinGen TOPMed |
|
|
rs747003794 CA2941346 |
264 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1477397205 CA357078147 |
267 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1246968289 CA357078135 |
269 | E>K | No |
ClinGen gnomAD |
|
|
CA2941344 rs768442650 |
271 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1481983337 CA357078106 |
273 | S>P | No |
ClinGen gnomAD |
|
|
CA2941343 rs145769396 |
274 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2941342 rs145769396 |
274 | G>V | No |
ESP ExAC gnomAD ClinGen |
|
|
CA357078072 rs1344174237 |
278 | V>A | No |
gnomAD ClinGen |
|
|
rs1276612781 CA357078054 |
281 | T>I | No |
ClinGen gnomAD |
|
|
CA98737700 rs753485057 |
281 | T>S | No |
ClinGen Ensembl |
|
|
CA357078046 rs1307746732 |
282 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357078043 rs1218769585 |
283 | G>R | No |
ClinGen gnomAD |
|
|
CA357078038 rs1345763803 |
283 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA98737696 rs982229862 |
284 | S>C | No |
TOPMed ClinGen |
|
|
rs1276894389 CA357078024 |
286 | R>T | No |
gnomAD ClinGen |
|
|
CA357077994 rs1350263753 |
291 | T>P | No |
gnomAD ClinGen |
|
|
rs769857113 CA2941314 |
297 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745596951 CA2941313 |
298 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1411337733 CA357077895 |
303 | R>G | No |
ClinGen gnomAD |
|
|
rs781059110 CA2941310 |
305 | R>K | No |
ExAC gnomAD ClinGen |
|
|
CA357077872 rs1206962476 |
306 | G>D | No |
gnomAD ClinGen |
|
| TCGA novel | 310 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269085230 CA357077850 |
310 | I>V | No |
ClinGen gnomAD |
|
|
rs886818700 CA98735366 |
314 | R>T | No |
ClinGen TOPMed |
|
|
CA357077806 rs1218194830 |
316 | G>R | No |
gnomAD ClinGen |
|
|
rs147599097 CA2941309 |
319 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147599097 CA357077788 |
319 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1385552113 CA357077773 |
321 | E>G | No |
ClinGen gnomAD |
|
|
rs746714675 CA2941308 |
323 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776258146 CA2941292 |
327 | E>D | No |
ClinGen ExAC |
|
| TCGA novel | 328 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357077696 rs1177625805 |
330 | H>Q | No |
TOPMed ClinGen |
|
|
CA2941290 rs746627529 |
334 | S>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1430640 CA2941288 rs771726851 |
337 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1430639 CA357077648 rs1437015118 |
338 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2941287 rs747610433 |
338 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941285 COSM194804 rs142607687 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 343 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 344 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357077591 rs1253371737 |
345 | T>P | No |
gnomAD ClinGen |
|
|
CA2941253 rs752722651 |
345 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2941252 rs766291642 |
346 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs1382911599 CA357077584 |
346 | S>N | No |
ClinGen TOPMed |
|
|
CA2941251 rs760563205 |
348 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357077563 rs1203940204 |
349 | K>R | No |
ClinGen gnomAD |
|
|
CA357077562 rs1203940204 |
349 | K>T | No |
ClinGen gnomAD |
|
|
CA357077555 rs1327621070 |
350 | Y>C | No |
ClinGen gnomAD |
|
|
CA2941249 rs767351614 |
350 | Y>D | No |
ExAC gnomAD ClinGen |
|
|
rs774061369 CA2941247 |
351 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357077529 rs1394154967 |
354 | D>G | No |
gnomAD ClinGen |
|
|
rs867043813 CA98734673 |
359 | L>F | No |
Ensembl ClinGen |
|
|
rs748770901 CA2941245 |
360 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA357077452 rs1158706209 |
365 | H>Y | No |
gnomAD ClinGen |
|
|
rs960942910 CA98734663 |
373 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA357077341 rs1447173446 COSM1310205 |
379 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs113961288 CA98733635 |
390 | A>V | No |
Ensembl ClinGen |
|
| TCGA novel | 392 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900674073 CA357077224 |
396 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs900674073 CA98733634 |
396 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357077225 rs900674073 |
396 | S>T | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 403 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778031652 CA2941219 |
408 | K>Q | No |
ExAC ClinGen |
|
| TCGA novel | 410 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772379553 CA2941200 |
415 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456832046 CA357077078 |
416 | S>T | No |
ClinGen TOPMed |
|
|
rs778939077 CA2941198 |
422 | G>R | No |
ClinGen ExAC |
|
|
rs1420960385 CA357077014 |
425 | P>L | No |
gnomAD ClinGen |
|
|
rs1429765420 CA357077008 |
426 | I>M | No |
gnomAD ClinGen |
|
|
rs780134773 CA2941195 |
426 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357076972 rs1471468884 |
432 | A>S | No |
gnomAD ClinGen |
|
|
rs1578044153 CA357076967 |
432 | A>V | No |
ClinGen Ensembl |
|
|
rs751498905 CA2941193 |
435 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941192 rs777608178 |
437 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357076890 rs1276504204 |
444 | K>E | No |
gnomAD ClinGen |
|
|
CA357076870 rs1200121824 |
446 | D>E | No |
ClinGen gnomAD |
|
|
rs758368578 CA2941171 |
451 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1054607531 CA98730550 |
452 | E>D | No |
ClinGen TOPMed |
|
|
rs778891536 CA2941169 |
457 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357076781 rs754655736 |
457 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753604463 CA2941167 |
458 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA2941166 rs564447542 |
459 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357076767 rs1485639632 |
460 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA98730536 rs1052702898 |
468 | H>Y | No |
Ensembl ClinGen |
|
|
rs544674704 CA2941165 |
469 | K>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 472 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357076660 rs1291760491 |
475 | R>H | No |
gnomAD ClinGen |
|
|
rs1343444906 CA357076604 |
481 | E>G | No |
gnomAD ClinGen |
|
|
CA2941147 rs749102306 |
486 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA357076515 rs1321801794 |
494 | P>L | No |
ClinGen TOPMed |
|
|
CA2941143 rs373112696 |
498 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220206560 CA357076418 |
507 | M>I | No |
ClinGen gnomAD |
|
|
CA357076419 rs1270515794 |
507 | M>T | No |
gnomAD ClinGen |
|
|
rs1429047946 CA357076423 |
507 | M>V | No |
gnomAD ClinGen |
|
|
rs369639529 CA2941140 |
508 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2941141 rs369639529 |
508 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2941139 rs763234834 |
510 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA2941138 rs753072868 |
514 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs952996641 CA357076353 |
516 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA357076344 rs765326486 |
518 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765326486 COSM1056833 CA2941137 |
518 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759832696 CA2941136 |
520 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs776786214 CA98729686 |
522 | R>C | No |
ClinGen Ensembl |
|
|
rs1328195861 CA357076323 |
522 | R>H | No |
TOPMed ClinGen |
|
|
CA2941134 rs771100713 |
525 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1482194512 CA357076304 |
526 | R>G | No |
ClinGen TOPMed |
|
|
CA2941133 rs761838810 |
526 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774366671 CA2941132 |
528 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs376050105 CA2941131 |
529 | V>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376343599 CA2941129 |
530 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2941128 rs769305195 |
530 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941130 rs376343599 |
530 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2941127 rs369029834 |
533 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2941111 rs763027992 |
535 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs775120808 CA2941110 |
535 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2941109 rs563538919 |
536 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs543297037 CA98728706 |
537 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 537 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 541 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357076202 rs1578023495 |
541 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 541 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578023473 CA357076195 |
542 | I>F | No |
Ensembl ClinGen |
|
|
rs745499920 CA2941108 |
542 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs780827954 CA2941107 |
543 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98728666 rs867556243 |
544 | N>S | No |
Ensembl ClinGen |
|
|
CA98728656 rs1027396223 |
545 | S>I | No |
Ensembl ClinGen |
|
|
CA98728659 rs952881642 |
545 | S>R | No |
ClinGen Ensembl |
|
|
rs746471896 CA2941105 |
546 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs750000890 CA98728649 |
549 | P>T | No |
Ensembl ClinGen |
|
| TCGA novel | 551 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357076132 rs1232841242 |
551 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 553 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777295029 CA2941104 |
553 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1476237638 CA357076122 |
553 | Y>N | No |
ClinGen gnomAD |
|
|
CA357076108 rs1262479602 |
555 | P>A | No |
gnomAD ClinGen |
|
|
CA357076109 rs1262479602 |
555 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243603217 CA357076103 |
556 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1358858120 CA357076093 |
557 | F>L | No |
gnomAD ClinGen |
|
|
CA357076086 rs1181403092 |
558 | H>D | No |
gnomAD ClinGen |
|
|
CA357076077 rs1349540256 |
559 | Q>E | No |
ClinGen TOPMed |
|
|
rs1248237482 CA357076063 |
561 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 562 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357076058 rs1324947975 |
562 | G>R | No |
ClinGen gnomAD |
|
|
CA2941075 rs750736702 |
563 | Y>H | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 565 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182430235 CA357076011 |
566 | D>E | No |
ClinGen TOPMed |
|
|
rs1223606907 CA357076004 |
567 | P>L | No |
ClinGen gnomAD |
|
|
rs1436159985 CA357076002 |
568 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA2941073 rs757342915 |
569 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941074 rs767705309 |
569 | Y>H | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 573 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357075958 rs1261460238 |
574 | R>T | No |
ClinGen gnomAD |
|
|
CA2941066 COSM1567285 rs772784669 |
575 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA98727938 rs765192829 |
576 | F>L | No |
Ensembl ClinGen |
|
|
rs947088601 CA98727926 |
579 | V>I | No |
Ensembl ClinGen |
|
|
CA2941064 rs747642815 |
580 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2941063 rs773762487 |
580 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA2941062 rs769172184 |
581 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1242869594 CA357075778 |
590 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA2941042 rs770440872 |
600 | G>E | No |
ExAC gnomAD ClinGen |
|
|
CA2941041 rs746188883 |
601 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98727839 rs961403431 |
602 | P>S | No |
TOPMed ClinGen |
|
|
rs771155552 CA2941039 |
603 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2941040 rs781715883 |
603 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781715883 CA357075689 |
603 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2941038 rs149734797 |
604 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357075672 rs1361358658 |
605 | W>C | No |
ClinGen TOPMed |
|
|
rs777895398 CA2941036 |
606 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
CA2941010 rs745861217 |
609 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA98726607 rs922310197 |
610 | P>L | No |
ClinGen Ensembl |
|
|
CA357075630 rs1479656759 |
610 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1479656759 CA357075632 |
610 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA357075606 rs1488522664 |
614 | M>V | No |
gnomAD ClinGen |
|
|
CA2941007 rs750930634 |
617 | P>F | No |
ClinGen ExAC |
|
|
CA2941006 rs756931567 |
618 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA98726590 rs763388340 |
620 | H>Q | No |
ClinGen Ensembl |
|
|
rs868559889 CA98726588 |
621 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1202030500 CA357075554 |
621 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 624 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763608140 CA2941004 |
627 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA357075474 rs1578015246 |
633 | H>Y | No |
ClinGen Ensembl |
|
|
rs764890012 CA2941001 |
635 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1387241271 CA357075441 |
638 | G>R | No |
gnomAD ClinGen |
|
|
rs753845671 CA2941000 |
642 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578015194 CA357075402 |
644 | H>D | No |
ClinGen Ensembl |
|
|
CA357075395 rs1296578972 |
644 | H>Q | No |
ClinGen gnomAD |
|
|
rs960670532 CA98726566 |
651 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
CA357075341 rs1224102465 |
652 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA357075315 rs1578010867 |
654 | H>Q | No |
ClinGen Ensembl |
|
|
rs777418819 CA2940967 |
654 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA357075286 rs1383171561 |
658 | M>K | No |
gnomAD ClinGen |
|
|
CA98725489 rs773700645 |
659 | R>K | No |
ClinGen Ensembl |
|
|
CA98725483 rs938518598 |
664 | L>V | No |
TOPMed ClinGen |
|
| TCGA novel | 665 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420790784 CA357075236 |
665 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 666 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747962858 CA2940965 |
666 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs747962858 CA357075229 |
666 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs754708866 CA2940963 COSM1430634 |
669 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs377241526 CA2940962 |
671 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756562328 CA2940961 |
674 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2940959 rs751003108 |
674 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs756562328 COSM1486055 CA2940960 |
674 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2940958 rs768012230 |
675 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2940957 rs762103656 |
675 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357075166 rs1451103337 |
677 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2940956 rs751948070 |
679 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA357075152 rs1288033903 COSM1233046 |
679 | R>H | large_intestine [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
CA2940953 rs775413315 |
683 | R>P | No |
ExAC ClinGen |
|
|
CA2940955 rs763278657 |
683 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2940951 rs760526657 |
684 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2940950 rs773135001 |
685 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357075100 rs1325074498 |
688 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 689 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772149696 CA2940949 |
689 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357075063 rs1343013450 |
693 | N>S | No |
ClinGen gnomAD |
|
|
rs747911322 CA2940947 |
695 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2940946 rs377634966 |
696 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357075046 rs1433985582 |
696 | D>Y | No |
ClinGen TOPMed |
|
|
CA357075039 rs1389299319 |
697 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA357075038 rs1389299319 |
697 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA98725379 rs929153247 |
699 | R>G | No |
ClinGen Ensembl |
|
|
CA2940944 rs144231368 |
699 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357075006 rs1192719774 |
702 | G>E | No |
ClinGen gnomAD |
|
|
TCGA novel rs779422679 CA2940941 |
702 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA ClinGen |
|
CA2940940 rs559131260 |
703 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357074994 rs1282897214 |
704 | D>G | No |
ClinGen TOPMed |
|
|
CA357074948 rs1356307164 |
710 | E>A | No |
ClinGen TOPMed |
|
|
CA98725305 rs897939169 |
711 | R>* | No |
Ensembl ClinGen |
|
|
CA2940936 rs749910525 |
711 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357074918 rs1211694675 |
715 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA357074916 rs1337744436 |
715 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA357074907 CA357074908 rs1250969231 |
716 | D>E | No |
gnomAD ClinGen |
|
|
rs1185183945 CA357074892 |
718 | D>E | No |
ClinGen TOPMed |
|
|
CA357074899 rs1219698438 |
718 | D>N | No |
ClinGen gnomAD |
|
|
COSM734946 rs368902802 CA2940935 |
719 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs150859221 CA2940934 |
720 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150859221 CA357074884 |
720 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1040470088 CA98725300 |
721 | E>G | No |
TOPMed ClinGen |
|
|
rs1164484916 CA357074882 |
721 | E>K | No |
ClinGen TOPMed |
|
|
CA98725298 rs944733382 |
723 | G>S | No |
Ensembl ClinGen |
|
|
rs751895030 CA2940933 |
724 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA98725289 rs866111317 |
725 | Y>D | No |
ClinGen gnomAD |
|
|
rs764494855 CA2940932 |
725 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA357074859 rs866111317 |
725 | Y>H | No |
gnomAD ClinGen |
No associated diseases with Q96MU7
1 regional properties for Q96MU7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | YTH domain | 355 - 492 | IPR007275 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| N6-methyladenosine-containing RNA binding | Binding to an RNA molecule modified by N6-methyladenosine (m6A), a modification present at internal sites of mRNAs and some non-coding RNAs. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| dosage compensation by inactivation of X chromosome | Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| mRNA alternative polyadenylation | The process of generating multiple mRNA molecules with variable 3'-end length formation from a given pre-mRNA by differential use of cleavage and polyadenylation signals (pA signals). |
| mRNA export from nucleus | The directed movement of mRNA from the nucleus to the cytoplasm. |
| mRNA splice site selection | Selection of a splice site by components of the assembling spliceosome. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| primary follicle stage | The stage in oogenesis when a single layer of cuboidal follicle cells surrounds the oocyte. The oocyte nucleus is large. |
| regulation of alternative mRNA splicing, via spliceosome | Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs. |
| regulation of mRNA splicing, via spliceosome | Any process that modulates the frequency, rate or extent of mRNA splicing via a spliceosomal mechanism. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAADSREEKD | GELNVLDDIL | TEVPEQDDEL | YNPESEQDKN | EKKGSKRKSD | RMESTDTKRQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KPSVHSRQLV | SKPLSSSVSN | NKRIVSTKGK | SATEYKNEEY | QRSERNKRLD | ADRKIRLSSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASREPYKNQP | EKTCVRKRDP | ERRAKSPTPD | GSERIGLEVD | RRASRSSQSS | KEEVNSEEYG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDHETGSSGS | SDEQGNNTEN | EEEGVEEDVE | EDEEVEEDAE | EDEEVDEDGE | EEEEEEEEEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEEEEEEEEY | EQDERDQKEE | GNDYDTRSEA | SDSGSESVSF | TDGSVRSGSG | TDGSDEKKKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RKRARGISPI | VFDRSGSSAS | ESYAGSEKKH | EKLSSSVRAV | RKDQTSKLKY | VLQDARFFLI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KSNNHENVSL | AKAKGVWSTL | PVNEKKLNLA | FRSARSVILI | FSVRESGKFQ | GFARLSSESH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HGGSPIHWVL | PAGMSAKMLG | GVFKIDWICR | RELPFTKSAH | LTNPWNEHKP | VKIGRDGQEI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELECGTQLCL | LFPPDESIDL | YQVIHKMRHK | RRMHSQPRSR | GRPSRREPVR | DVGRRRPEDY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DIHNSRKKPR | IDYPPEFHQR | PGYLKDPRYQ | EVDRRFSGVR | RDVFLNGSYN | DYVREFHNMG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PPPPWQGMPP | YPGMEQPPHH | PYYQHHAPPP | QAHPPYSGHH | PVPHEARYRD | KRVHDYDMRV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DDFLRRTQAV | VSGRRSRPRE | RDRERERDRP | RDNRRDRERD | RGRDRERERE | RLCDRDRDRG |
| ERGRYRR |