Q96GD3
PR
Gene name |
SCMH1 |
Protein name |
Polycomb protein SCMH1 |
Names |
Sex comb on midleg homolog 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22955 |
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 Q96GD3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2P0K | X-ray | 175 A | A | 27-238 | PDB |
| AF-Q96GD3-F1 | Predicted | AlphaFoldDB |
433 variants for Q96GD3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775673120 CA796600 |
3 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs772524736 CA796599 |
4 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA21157497 rs200344064 |
5 | Y>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1415900741 CA339904930 |
5 | Y>H | No |
ClinGen gnomAD |
|
|
rs769426680 CA796596 |
6 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769426680 CA796597 |
6 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA339904896 rs1296758419 |
8 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1385224215 CA339904887 |
9 | A>P | No |
ClinGen gnomAD |
|
|
CA796594 rs780863677 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455987533 CA339904873 |
10 | C>F | No |
ClinGen gnomAD |
|
|
rs1455987533 CA339904875 |
10 | C>Y | No |
ClinGen gnomAD |
|
|
CA21157466 rs200935742 |
11 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 13 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545395137 CA796593 |
15 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114233776 CA796592 |
17 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339904797 rs1165619432 |
17 | P>S | No |
ClinGen gnomAD |
|
|
CA796591 rs549218173 |
19 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779040769 CA796588 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs529552697 CA796587 |
26 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21156610 rs929340804 |
27 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757426384 CA796568 |
32 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA796566 rs182666831 |
38 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA796564 rs753143328 |
41 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753143328 CA339904560 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755559061 CA796562 |
43 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175022534 CA339904535 |
45 | H>R | No |
ClinGen TOPMed |
|
|
CA339904526 rs1183606680 |
46 | C>F | No |
ClinGen gnomAD |
|
|
CA339903572 rs1378649710 |
50 | S>C | No |
ClinGen gnomAD |
|
|
CA339903568 rs1378649710 |
50 | S>F | No |
ClinGen gnomAD |
|
|
CA339903555 rs1247142911 |
51 | Y>C | No |
ClinGen TOPMed |
|
|
CA796540 rs758892838 |
52 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs750756544 CA796539 |
52 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953951652 CA21150649 |
54 | P>S | No |
ClinGen Ensembl |
|
|
CA339903492 rs1572559107 |
55 | S>N | No |
ClinGen Ensembl |
|
|
rs1235116508 CA339903502 |
55 | S>R | No |
ClinGen gnomAD |
|
|
CA339903463 rs1485572039 |
57 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339903426 rs760266891 |
59 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs370678139 CA796536 |
60 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759443674 CA796534 |
64 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA796533 rs774327110 |
65 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770705267 CA796532 |
67 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA21150593 rs1000457085 |
69 | P>R | No |
ClinGen TOPMed |
|
|
rs1243942009 CA339903248 |
70 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758534047 CA796530 |
71 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770013101 CA796529 |
72 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1324789077 CA339903209 |
73 | T>A | No |
ClinGen TOPMed |
|
|
CA339903203 rs1269765299 |
73 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339903197 rs1358870906 |
74 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335134812 CA339903113 |
81 | V>I | No |
ClinGen gnomAD |
|
|
CA21150554 rs1042166103 |
83 | L>V | No |
ClinGen TOPMed |
|
|
rs1304719871 CA339903081 |
84 | T>A | No |
ClinGen gnomAD |
|
|
CA796527 rs781390985 |
85 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1388024414 CA339903053 |
86 | A>V | No |
ClinGen gnomAD |
|
|
rs747507182 CA796525 |
87 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM909555 CA339903042 rs1238630641 COSM909556 |
87 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs758985486 CA796523 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1264944 COSM1264943 rs1210502666 CA339903012 |
89 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA339902994 rs1241213097 |
91 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339902984 rs1216056271 |
93 | D>N | No |
ClinGen gnomAD |
|
|
rs755757080 CA796520 |
97 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA796519 rs752338130 |
98 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21150459 rs1056067366 |
103 | R>L | No |
ClinGen gnomAD |
|
|
rs1056067366 CA339902865 |
103 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1667478 rs766997779 CA796518 COSM1667479 |
103 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA339902845 rs1572557568 |
105 | V>G | No |
ClinGen Ensembl |
|
|
CA339902798 rs1360996779 |
109 | E>D | No |
ClinGen gnomAD |
|
|
rs146604562 CA796516 |
111 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21150424 rs1049284598 |
113 | I>T | No |
ClinGen Ensembl |
|
|
rs111579488 CA796515 |
113 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142494793 CA796513 |
115 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395868761 CA339902670 |
121 | G>S | No |
ClinGen gnomAD |
|
|
CA339902639 rs1167718212 |
124 | Q>* | No |
ClinGen gnomAD |
|
|
rs769517806 CA339902626 |
125 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769517806 CA796512 |
125 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA339900785 rs1454388964 |
130 | R>Q | No |
ClinGen gnomAD |
|
|
CA796496 rs762916876 |
130 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA796494 rs140656390 |
133 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339900726 rs1206377111 |
135 | S>F | No |
ClinGen gnomAD |
|
|
rs768948210 CA796491 |
138 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339900662 rs1172549453 |
140 | L>P | No |
ClinGen TOPMed |
|
|
CA21134896 rs775677371 |
143 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775677371 CA796489 |
143 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21134882 rs967478121 |
145 | N>S | No |
ClinGen Ensembl |
|
|
rs771472375 CA796485 |
148 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749599519 CA796484 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA21134854 rs754372309 |
152 | I>T | No |
ClinGen Ensembl |
|
|
CA796483 rs778135272 |
152 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA796482 rs754585306 |
156 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA21134847 rs867825337 |
156 | H>Y | No |
ClinGen Ensembl |
|
|
CA339900271 rs1557497798 |
160 | P>A | No |
ClinGen Ensembl |
|
|
rs1383260293 CA339900232 |
164 | H>Y | No |
ClinGen gnomAD |
|
|
CA21132927 rs911342308 |
169 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA796464 rs373986778 |
178 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21132916 rs890971884 |
180 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339900086 rs1572241809 |
182 | H>L | No |
ClinGen Ensembl |
|
|
CA339900091 rs1485608482 |
182 | H>N | No |
ClinGen gnomAD |
|
|
rs1485608482 CA339900089 |
182 | H>Y | No |
ClinGen gnomAD |
|
|
CA339900073 rs1217988967 |
184 | I>F | No |
ClinGen gnomAD |
|
|
CA339900074 rs1217988967 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA796461 rs745313545 |
185 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA796460 rs778512886 |
185 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1234345836 CA339900040 |
189 | I>T | No |
ClinGen gnomAD |
|
|
rs1385160784 CA339900013 |
193 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1381280086 CA339900015 |
193 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1290152388 CA339899995 |
196 | E>G | No |
ClinGen gnomAD |
|
|
CA339899986 rs1572241302 |
197 | V>G | No |
ClinGen Ensembl |
|
|
CA21132900 rs868466250 |
198 | L>F | No |
ClinGen Ensembl |
|
|
CA796458 rs753871671 |
202 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1476104286 COSM3934733 COSM3934732 CA339899937 |
205 | R>* | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA21132882 rs914942940 |
205 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA21132886 rs914942940 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1191366567 CA339899929 |
207 | A>T | No |
ClinGen gnomAD |
|
|
CA21132880 rs752943132 |
210 | Y>C | No |
ClinGen Ensembl |
|
|
COSM909552 CA796456 rs776711218 COSM909553 |
213 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs373257448 CA21132870 |
213 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs488018 CA21132807 |
215 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs488018 CA796453 COSM126027 |
215 | D>N | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs488018 CA21132840 |
215 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21132781 rs572471526 |
217 | R>* | No |
ClinGen 1000Genomes |
|
|
CA339899859 rs1159506597 |
217 | R>Q | No |
ClinGen TOPMed |
|
|
CA796452 rs151141721 |
219 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339899809 rs1337464114 |
224 | W>* | No |
ClinGen gnomAD |
|
|
CA339899768 rs1227097040 |
230 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA21132731 rs1031227511 |
230 | D>H | No |
ClinGen Ensembl |
|
|
rs773769756 CA796450 |
232 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA796449 rs773769756 |
232 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748448332 CA796447 |
237 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA796424 rs140590267 |
239 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1007052726 CA21137668 |
240 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759220732 CA796422 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759220732 CA796423 |
240 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1687524 COSM1687525 rs371430663 CA21137666 |
245 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 245 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748157901 CA796421 |
246 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748157901 CA796420 |
246 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571838727 CA339908363 |
248 | A>V | No |
ClinGen Ensembl |
|
|
rs1278927456 CA339908353 |
250 | D>G | No |
ClinGen gnomAD |
|
|
CA21137634 rs372548251 |
250 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA339908355 rs372548251 |
250 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA21137628 rs770694897 |
251 | V>L | No |
ClinGen Ensembl |
|
|
CA796417 rs751730531 |
252 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1310873702 CA339908326 |
254 | E>V | No |
ClinGen gnomAD |
|
|
CA796416 rs780187552 |
256 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758636160 CA796415 |
257 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750456179 CA339908303 |
258 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750456179 CA796414 |
258 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368248617 CA796412 |
264 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3805234 COSM3805233 rs527924712 CA796410 |
267 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA339908213 rs1470812034 |
268 | H>R | No |
ClinGen gnomAD |
|
|
CA796408 rs776010579 |
270 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA796405 rs772818669 |
274 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA796404 rs769479657 |
275 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138462771 CA796403 |
275 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331134549 CA339908065 |
277 | P>S | No |
ClinGen gnomAD |
|
|
rs375315298 CA796402 |
281 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355854007 CA339908006 |
281 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768485809 CA796401 |
283 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1450444092 CA339907981 |
283 | R>W | No |
ClinGen gnomAD |
|
|
rs1571837087 CA339907956 |
285 | P>A | No |
ClinGen Ensembl |
|
|
CA339907937 rs1317761858 |
286 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs907277256 CA21137578 |
288 | L>R | No |
ClinGen TOPMed |
|
|
rs779848920 CA796399 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA339907834 rs1189399100 |
293 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339907794 rs1461285647 |
299 | T>I | No |
ClinGen gnomAD |
|
|
rs1571836687 CA339907782 |
300 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 302 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758581293 CA796398 |
302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758581293 CA21137576 |
302 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339907754 rs1293669225 |
302 | P>S | No |
ClinGen TOPMed |
|
|
CA796396 rs142101369 |
306 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339907663 rs1241087939 |
307 | K>R | No |
ClinGen gnomAD |
|
|
rs757421583 CA796395 |
310 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762799404 CA796394 |
311 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143365597 CA796391 |
313 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA796390 rs769629028 |
316 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761398739 CA339907227 |
320 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392841035 CA339907226 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA796368 rs761398739 |
320 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA796366 rs763556034 |
321 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA796367 rs776169221 |
321 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs767475554 CA21135797 |
322 | L>F | No |
ClinGen Ensembl |
|
|
rs1427258342 CA339907216 |
322 | L>S | No |
ClinGen gnomAD |
|
|
rs1571777218 CA339907205 |
324 | N>T | No |
ClinGen Ensembl |
|
|
rs760590161 CA796365 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1233261663 CA339907192 |
326 | P>L | No |
ClinGen gnomAD |
|
|
CA21135795 rs576888290 |
326 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA796364 rs775469423 |
327 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA796363 rs755833243 |
328 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759267924 CA796362 |
328 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339907157 rs1312839283 |
330 | P>A | No |
ClinGen gnomAD |
|
|
CA339907126 rs1304104789 |
332 | T>A | No |
ClinGen gnomAD |
|
|
CA796359 rs749511026 |
333 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA339907089 rs1482708911 |
334 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 335 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA796357 rs770058667 |
337 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777887769 CA796358 |
337 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339907021 rs1311884659 |
338 | D>N | No |
ClinGen gnomAD |
|
|
rs781737453 CA796355 |
339 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1428822402 CA339906963 |
341 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA796354 rs755559038 |
341 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA339906911 rs1408538642 |
344 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA796351 rs780316345 |
345 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs756905948 CA796350 |
347 | A>T | No |
ClinGen ExAC |
|
|
rs1474094850 CA339906858 |
348 | T>S | No |
ClinGen gnomAD |
|
|
CA21135754 rs759704384 |
349 | I>V | No |
ClinGen Ensembl |
|
|
rs774435057 CA21135746 |
352 | S>L | No |
ClinGen Ensembl |
|
|
CA339906788 rs1483649152 |
354 | M>T | No |
ClinGen gnomAD |
|
|
rs763653610 CA339906749 |
356 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763653610 CA796348 |
356 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA339906716 rs1178636853 |
358 | T>A | No |
ClinGen TOPMed |
|
|
CA796347 rs760107819 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA796329 rs752161618 |
360 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381225623 CA339904121 |
360 | C>Y | No |
ClinGen gnomAD |
|
|
CA796328 rs767052739 |
361 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1410762584 CA339904116 |
361 | I>T | No |
ClinGen TOPMed |
|
|
COSM909546 CA796327 rs759445717 COSM909547 |
362 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1163627071 CA339904091 |
364 | N>K | No |
ClinGen gnomAD |
|
|
rs762588000 CA796324 |
368 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA796325 rs766193595 |
368 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571465182 CA339904041 |
372 | H>P | No |
ClinGen Ensembl |
|
|
rs141985362 CA339904023 |
374 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762161709 CA796321 |
375 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA21126212 rs1053112950 |
377 | K>E | No |
ClinGen Ensembl |
|
|
rs934776711 CA21126206 |
377 | K>M | No |
ClinGen Ensembl |
|
|
CA339903970 rs1291585716 |
382 | P>S | No |
ClinGen gnomAD |
|
|
rs1489668702 CA339903964 |
383 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339903922 rs1249299598 COSM188084 COSM188085 |
389 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs376970948 CA796318 |
389 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA796317 rs142187533 |
395 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA796316 rs772643140 |
397 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388373005 CA339903817 |
402 | I>V | No |
ClinGen gnomAD |
|
|
CA796314 rs779280545 |
403 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138961580 CA796311 |
407 | H>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA339903685 rs1452643505 |
408 | Q>H | No |
ClinGen gnomAD |
|
|
rs148739697 CA796309 |
411 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1248891948 CA339903628 |
412 | F>L | No |
ClinGen gnomAD |
|
|
CA339903616 rs1204837995 |
413 | S>G | No |
ClinGen gnomAD |
|
|
CA339903478 rs1558437237 |
418 | G>S | No |
ClinGen Ensembl |
|
|
CA339903433 rs1369124076 |
420 | G>V | No |
ClinGen TOPMed |
|
|
rs945738777 CA21126158 |
422 | E>A | No |
ClinGen TOPMed |
|
|
rs1346521128 CA339903393 |
423 | V>I | No |
ClinGen gnomAD |
|
|
rs532112668 CA796295 |
427 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21125178 rs144177539 |
429 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA796292 rs563320674 |
430 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771342659 CA796293 |
430 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339902862 rs1458136390 |
432 | Q>* | No |
ClinGen gnomAD |
|
|
rs780756941 CA796291 |
432 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA339902831 rs754674653 |
433 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA796289 rs746456283 |
435 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA796288 rs779649488 |
437 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA796287 rs758239420 |
439 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750438486 CA796286 |
440 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765114792 CA796285 |
444 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339902666 rs1571431787 |
444 | T>P | No |
ClinGen Ensembl |
|
|
rs751201891 CA21125150 |
445 | Y>C | No |
ClinGen Ensembl |
|
|
rs753695456 CA796283 |
446 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146314489 CA21125137 |
448 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs138957992 CA796281 |
448 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339902590 rs1468217693 |
449 | F>I | No |
ClinGen gnomAD |
|
|
rs918614145 CA21125129 |
449 | F>Y | No |
ClinGen Ensembl |
|
|
CA339902569 rs1450377429 |
452 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369045955 CA796278 |
458 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA796277 rs369790579 |
458 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771432827 CA796275 |
461 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA796274 rs763245171 |
461 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140512000 CA796273 |
462 | L>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs1252519203 CA339902496 |
463 | F>L | No |
ClinGen TOPMed |
|
|
rs746718607 CA796271 |
465 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs745799505 CA796268 |
468 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA339902443 rs1386100917 |
470 | Q>H | No |
ClinGen TOPMed |
|
|
rs757278197 CA796266 |
470 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA796265 rs191253318 |
472 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339902405 rs1451964210 |
476 | T>S | No |
ClinGen gnomAD |
|
|
CA796263 rs141951539 |
478 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142172870 CA21125038 |
480 | Y>* | No |
ClinGen 1000Genomes |
|
|
CA796262 rs753021344 |
481 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA796261 rs759545978 |
482 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA796260 rs759545978 |
482 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA796256 rs375356330 |
485 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA796255 rs375356330 |
485 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA796254 rs763483250 |
486 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773538391 CA796253 |
486 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA796238 rs755215679 |
490 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277059079 CA339900987 |
492 | T>I | No |
ClinGen Ensembl |
|
|
rs201026005 CA796237 |
493 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758883656 CA796235 |
496 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs765519580 CA796233 |
497 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763865024 CA21120227 |
500 | A>T | No |
ClinGen TOPMed |
|
|
rs564084016 CA796232 |
501 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564084016 CA21120224 |
501 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145877237 CA796231 |
501 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145877237 CA339900934 |
501 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21120208 rs1014600761 |
502 | S>P | No |
ClinGen Ensembl |
|
|
CA339900924 rs1571262214 |
503 | L>W | No |
ClinGen Ensembl |
|
|
rs368774357 CA21120205 |
505 | P>R | No |
ClinGen ESP gnomAD |
|
|
rs1277128261 CA339900905 |
506 | H>R | No |
ClinGen TOPMed |
|
|
CA796230 rs375509188 |
506 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA796227 rs773974278 |
508 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1322746583 CA339900888 |
509 | S>T | No |
ClinGen gnomAD |
|
|
CA796225 rs561244725 |
510 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21120172 rs1050270891 |
511 | D>H | No |
ClinGen Ensembl |
|
|
rs773134709 CA796224 |
514 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA339900842 rs1448055386 |
516 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775220847 CA21120162 |
517 | T>N | No |
ClinGen Ensembl |
|
|
CA339900825 rs1360886936 |
518 | N>K | No |
ClinGen gnomAD |
|
|
rs1156814948 CA339900805 |
520 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1412462275 CA339900789 |
521 | S>N | No |
ClinGen gnomAD |
|
|
rs747927763 CA796222 |
523 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs202077203 CA796220 |
527 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339900711 rs1194669572 |
527 | R>W | No |
ClinGen TOPMed |
|
|
CA796217 rs780097526 |
528 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137901426 CA796215 |
530 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319570553 CA339900594 |
536 | P>S | No |
ClinGen gnomAD |
|
|
rs1311559920 CA339900583 |
537 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA796213 rs757732169 |
537 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339900585 rs1311559920 |
537 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1380677081 CA339900567 |
538 | S>N | No |
ClinGen gnomAD |
|
|
rs1297206978 CA339900569 |
538 | S>R | No |
ClinGen TOPMed |
|
|
rs754196807 CA796212 |
539 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339900545 rs1434320398 |
540 | A>T | No |
ClinGen gnomAD |
|
|
CA21120125 rs368229586 |
542 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA796211 rs764599596 |
544 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA796210 rs374050102 |
544 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339900456 rs1164308552 |
547 | C>R | No |
ClinGen gnomAD |
|
|
CA339900439 rs1241877085 |
548 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA339900426 rs1416081937 |
550 | G>* | No |
ClinGen gnomAD |
|
|
CA796190 rs567694522 |
551 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1330409159 CA339900403 |
552 | L>V | No |
ClinGen gnomAD |
|
|
CA339900396 rs1307842833 |
553 | K>E | No |
ClinGen TOPMed |
|
|
CA339900397 rs1307842833 |
553 | K>Q | No |
ClinGen TOPMed |
|
|
CA339900387 rs1301727947 |
554 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs532305848 CA796189 |
555 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21118340 rs1049360852 |
556 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA796188 rs749919568 |
558 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs749919568 CA796187 |
558 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429242473 CA339900358 |
559 | R>G | No |
ClinGen gnomAD |
|
|
CA339900354 rs1321636322 |
559 | R>K | No |
ClinGen TOPMed |
|
|
rs563119550 CA796186 |
560 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs937270374 CA21118325 |
560 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs563119550 CA339900348 |
560 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA796185 rs761799053 |
562 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768589033 CA796183 |
564 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249217279 CA339900308 |
565 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775291666 CA796181 |
567 | L>P | No |
ClinGen ExAC |
|
|
rs746123210 CA796178 |
569 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543254781 CA796177 |
569 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770981505 CA339900241 |
570 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1558296996 CA339900236 |
570 | S>C | No |
ClinGen Ensembl |
|
|
rs770981505 CA796176 |
570 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21118288 rs1006807286 |
571 | P>A | No |
ClinGen Ensembl |
|
|
CA796175 rs749389712 |
572 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571083814 CA339899694 |
573 | S>A | No |
ClinGen Ensembl |
|
|
CA796158 rs146565042 |
573 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146565042 CA339899692 |
573 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369637138 CA796155 |
574 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749331053 CA796156 |
574 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990926700 COSM1224798 COSM1224797 CA21115583 |
575 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA796153 rs748715258 |
575 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339899671 rs1558252114 |
577 | L>P | No |
ClinGen Ensembl |
|
|
rs192535871 CA796152 |
580 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA796151 rs747407979 |
580 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747407979 CA796150 |
580 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753310087 CA796148 |
581 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753310087 CA796147 |
581 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339899633 rs1184828016 |
583 | S>F | No |
ClinGen gnomAD |
|
|
rs376364655 CA796145 |
584 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957935145 CA21115532 |
587 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA796141 rs376233858 |
588 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267598597 CA796142 |
588 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758238157 CA21115527 |
589 | D>E | No |
ClinGen gnomAD |
|
|
CA796140 rs546399615 |
591 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339899560 rs1321939684 |
596 | E>A | No |
ClinGen gnomAD |
|
|
CA796138 rs533089870 |
596 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339899555 rs1397538426 |
597 | D>N | No |
ClinGen TOPMed |
|
|
rs1571081840 CA339899544 |
598 | V>G | No |
ClinGen Ensembl |
|
|
CA21115464 rs748662296 |
603 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM188071 CA796135 COSM188070 rs776939554 |
603 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748662296 CA796136 |
603 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339899504 rs1571081626 |
604 | E>G | No |
ClinGen Ensembl |
|
|
CA339899482 rs1447124491 |
607 | P>R | No |
ClinGen gnomAD |
|
|
rs371463378 CA21115450 |
608 | Q>R | No |
ClinGen ESP gnomAD |
|
|
CA339899453 rs1558249793 |
612 | H>D | No |
ClinGen Ensembl |
|
|
CA339899448 rs769223096 |
612 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367631516 CA796133 |
613 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139648979 CA796131 |
617 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143623408 CA796130 |
617 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292765821 CA339899415 |
618 | K>E | No |
ClinGen gnomAD |
|
| rs200250307 | 619 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200250307 CA796129 |
619 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA796105 rs780713552 |
620 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175261445 CA339899376 |
622 | D>H | No |
ClinGen gnomAD |
|
|
rs762092195 CA796098 |
630 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753891493 CA796097 |
630 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs1210047811 CA339899297 |
634 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1210047811 CA339899296 |
634 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1265422295 CA339899288 |
635 | M>K | No |
ClinGen gnomAD |
|
|
CA339899290 rs1462105870 |
635 | M>V | No |
ClinGen gnomAD |
|
|
CA21115092 rs1015795641 |
636 | K>E | No |
ClinGen TOPMed |
|
|
CA796096 rs764180975 |
636 | K>M | No |
ClinGen ExAC TOPMed |
|
|
rs776134394 CA796094 |
638 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA339899268 rs1264527858 |
638 | M>V | No |
ClinGen TOPMed |
|
|
CA339899254 rs1391472109 |
640 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1307223455 CA339899238 |
642 | L>P | No |
ClinGen gnomAD |
|
|
CA21115072 rs868403790 |
645 | A>S | No |
ClinGen Ensembl |
|
|
CA796091 rs139364750 |
645 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906574754 CA21115068 |
647 | K>N | No |
ClinGen TOPMed |
|
|
CA21115070 rs1002619699 |
647 | K>R | No |
ClinGen TOPMed |
|
|
rs769468039 CA796090 |
650 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs867769913 CA21115067 |
652 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA796088 rs780580261 |
654 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143523539 CA796087 |
654 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA796089 rs780580261 |
654 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746494953 CA796086 |
656 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA796085 CA339899147 rs780195099 |
657 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96GD3
8 regional properties for Q96GD3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sterile alpha motif domain | 590 - 658 | IPR001660 |
| repeat | Mbt repeat | 28 - 129 | IPR004092-1 |
| repeat | Mbt repeat | 134 - 235 | IPR004092-2 |
| domain | SLED domain | 358 - 466 | IPR021987 |
| domain | Polycomb group protein, RNA binding region | 271 - 324 | IPR033763 |
| repeat | Polycomb protein SCMH1, first MBT repeat | 27 - 157 | IPR047279 |
| repeat | Polycomb protein SCMH1, second MBT repeat | 162 - 236 | IPR047280 |
| domain | Sex comb on midleg-like, SAM domain | 587 - 657 | IPR047531 |
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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| heterochromatin assembly | An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q969R5 | L3MBTL2 | Lethal(3)malignant brain tumor-like protein 2 | Homo sapiens (Human) | PR |
| Q9UQR0 | SCML2 | Sex comb on midleg-like protein 2 | Homo sapiens (Human) | PR |
| Q9Y468 | L3MBTL1 | Lethal(3)malignant brain tumor-like protein 1 | Homo sapiens (Human) | PR |
| Q96JM7 | L3MBTL3 | Lethal(3)malignant brain tumor-like protein 3 | Homo sapiens (Human) | PR |
| Q9UHJ3 | SFMBT1 | Scm-like with four MBT domains protein 1 | Homo sapiens (Human) | PR |
| Q8BLB7 | L3mbtl3 | Lethal(3)malignant brain tumor-like protein 3 | Mus musculus (Mouse) | PR |
| A2A5N8 | L3mbtl1 | Lethal(3)malignant brain tumor-like protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD1 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD2 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Rattus norvegicus (Rat) | PR |
| B2D6M2 | lin-61 | Protein lin-61 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLVCYSVLAC | EILWDLPCSI | MGSPLGHFTW | DKYLKETCSV | PAPVHCFKQS | YTPPSNEFKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SMKLEAQDPR | NTTSTCIATV | VGLTGARLRL | RLDGSDNKND | FWRLVDSAEI | QPIGNCEKNG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GMLQPPLGFR | LNASSWPMFL | LKTLNGAEMA | PIRIFHKEPP | SPSHNFFKMG | MKLEAVDRKN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PHFICPATIG | EVRGSEVLVT | FDGWRGAFDY | WCRFDSRDIF | PVGWCSLTGD | NLQPPGTKVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IPKNPYPASD | VNTEKPSIHS | STKTVLEHQP | GQRGRKPGKK | RGRTPKTLIS | HPISAPSKTA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EPLKFPKKRG | PKPGSKRKPR | TLLNPPPASP | TTSTPEPDTS | TVPQDAATIP | SSAMQAPTVC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IYLNKNGSTG | PHLDKKKVQQ | LPDHFGPARA | SVVLQQAVQA | CIDCAYHQKT | VFSFLKQGHG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GEVISAVFDR | EQHTLNLPAV | NSITYVLRFL | EKLCHNLRSD | NLFGNQPFTQ | THLSLTAIEY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SHSHDRYLPG | ETFVLGNSLA | RSLEPHSDSM | DSASNPTNLV | STSQRHRPLL | SSCGLPPSTA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SAVRRLCSRG | VLKGSNERRD | MESFWKLNRS | PGSDRYLESR | DASRLSGRDP | SSWTVEDVMQ |
| 610 | 620 | 630 | 640 | 650 | |
| FVREADPQLG | PHADLFRKHE | IDGKALLLLR | SDMMMKYMGL | KLGPALKLSY | HIDRLKQGKF |