Q66GS9
PR
Gene name |
CEP135 |
Protein name |
Centrosomal protein of 135 kDa |
Names |
Cep135, Centrosomal protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9662 |
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
3 structures for Q66GS9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5FCN | X-ray | 180 A | A/B | 82-144 | PDB |
| 5NG4 | X-ray | 214 A | A/B | 82-144 | PDB |
| AF-Q66GS9-F1 | Predicted | AlphaFoldDB |
443 variants for Q66GS9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1728412496 RCV001334251 |
77 | R>S | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001334253 rs1324886097 RCV001871859 |
192 | D>V | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000884409 RCV000179536 RCV001007672 rs150331261 |
213 | V>A | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2927699 RCV001703213 RCV000599697 rs752140135 |
292 | R>* | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202247811 RCV000024354 |
324 | Q>missing | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001007671 RCV001869309 RCV002536203 CA2927721 rs140748251 CA356977210 |
331 | R>S | Microcephaly 8, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001007668 rs748666352 |
820 | N>D | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001334252 RCV001852550 rs141330867 RCV000192448 |
845 | V>A | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1302832769 RCV000623771 |
889 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001261593 RCV001574228 rs186530606 |
908 | R>* | Variant assessed as Somatic; 0.0 impact. Microcephaly 8, primary, autosomal recessive [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs139474852 RCV002060107 RCV000502232 RCV002527222 |
936 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553895368 RCV000497671 |
977 | L>missing | Microcephaly 8, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001818691 rs115646074 RCV002539423 RCV000893906 RCV001255823 |
991 | M>V | Microcephaly 8, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553895735 RCV000624572 |
1093 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330024 rs953311582 |
1116 | R>* | Variant assessed as Somatic; 0.0 impact. Microcephaly 8, primary, autosomal recessive [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
| TCGA novel | 13 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 15 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150681316 RCV000900322 RCV001818744 |
22 | R>C | No |
ClinVar dbSNP |
|
| rs201621075 | 37 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202084972 RCV000766990 RCV000499874 |
48 | R>W | No |
ClinVar dbSNP |
|
|
RCV002054258 RCV000194426 rs147697562 |
68 | L>S | No |
ClinVar dbSNP |
|
| rs1300495845 | 92 | L>P | Variant assessed as Somatic; 4.885e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001588928 RCV000116675 rs77591659 |
112 | R>H | No |
ClinVar dbSNP |
|
| TCGA novel | 140 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1359395367 | 148 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149954755 RCV000927290 |
176 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
| TCGA novel | 193 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1304201119 | 199 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002054259 RCV000194842 rs76941356 |
212 | E>D | No |
ClinVar dbSNP |
|
|
CA96958106 rs1030915369 |
234 | I>M | No |
ClinGen Ensembl |
|
|
rs1339399684 CA356974576 |
234 | I>T | No |
ClinGen gnomAD |
|
|
CA356974560 rs1298473884 |
234 | I>V | No |
ClinGen gnomAD |
|
|
rs146684547 CA2927652 |
235 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356975528 rs1466889004 |
238 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2927653 rs750616092 |
238 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2927654 rs760955800 COSM288319 |
239 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766575411 CA2927655 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1265349968 CA356975553 |
240 | E>* | No |
ClinGen gnomAD |
|
|
CA2927657 rs755345091 |
241 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2927656 rs372973005 |
241 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927658 rs200221082 |
243 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356975647 rs1418388385 |
244 | L>P | No |
ClinGen gnomAD |
|
|
CA2927659 rs753230629 |
245 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1258085141 CA356975674 |
246 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA96958113 rs371746032 |
247 | A>G | No |
ClinGen Ensembl |
|
|
rs777274487 CA2927661 |
249 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424159331 CA356975733 |
249 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2927662 rs746592710 |
251 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980201124 CA356975782 |
251 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA96958115 rs980201124 |
251 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2927664 rs780760034 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2927663 rs770607966 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745647689 CA2927665 |
256 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2927667 rs775520460 |
258 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356975936 rs1396947017 |
259 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA96958119 rs1035164786 |
260 | E>* | No |
ClinGen Ensembl |
|
|
rs1179575617 CA356975967 |
260 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356975992 rs1315010494 |
262 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2927668 rs762997285 |
263 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs140245520 CA2927669 |
265 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140245520 CA2927670 |
265 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2702355 CA96958122 |
265 | T>P | No |
ClinGen Ensembl |
|
|
RCV000599433 rs1553889111 |
266 | N>missing | No |
ClinVar dbSNP |
|
|
rs760723459 CA2927671 |
266 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356976131 rs551280360 |
270 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA96958127 rs551280360 |
270 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs754044070 CA2927673 |
274 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs544643954 CA2927689 |
277 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770944527 CA2927690 |
279 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456954766 CA356976345 |
281 | Q>R | No |
ClinGen TOPMed |
|
|
rs776861173 CA2927691 |
283 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759686400 CA96958349 |
284 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759686400 CA2927692 |
284 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943075910 CA96958351 |
284 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2927693 rs377618917 |
285 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2927694 rs775823086 |
289 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1232203669 CA356976444 |
289 | K>R | No |
ClinGen gnomAD |
|
|
COSM734103 rs763361090 CA2927696 |
290 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371196044 COSM192447 CA2927697 |
290 | R>H | thyroid large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2927695 rs763361090 |
290 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356976466 rs1488180626 |
291 | I>K | No |
ClinGen TOPMed |
|
|
CA2927701 rs373846064 |
292 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927700 rs373846064 |
292 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890749485 CA96958366 |
293 | E>D | No |
ClinGen TOPMed |
|
|
rs779910712 CA2927703 |
293 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755825568 CA2927702 |
293 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754859802 CA2927705 |
295 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749067000 CA2927704 |
295 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA96958369 rs200316290 |
295 | M>T | No |
ClinGen 1000Genomes |
|
|
CA356976575 rs1295305181 |
299 | E>V | No |
ClinGen gnomAD |
|
|
rs1368577015 CA356976583 |
300 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1304375442 CA356976613 |
301 | V>A | No |
ClinGen TOPMed |
|
|
CA356976606 rs1281589994 |
301 | V>L | No |
ClinGen gnomAD |
|
|
rs748056369 CA2927707 |
303 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1369874089 CA356976677 |
304 | E>G | No |
ClinGen TOPMed |
|
|
CA2927708 rs770981907 |
304 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96958378 rs1022231116 |
305 | V>G | No |
ClinGen Ensembl |
|
|
rs746009395 CA2927710 |
306 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927711 rs746009395 |
306 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775731492 CA2927712 |
308 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1223136255 CA356976765 |
308 | L>V | No |
ClinGen gnomAD |
|
|
rs1031987807 CA96958383 |
310 | N>K | No |
ClinGen TOPMed |
|
|
CA2927713 rs763267327 |
311 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2927714 rs764466194 |
312 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356976870 rs1432769198 |
313 | E>G | No |
ClinGen TOPMed |
|
|
CA2927715 rs530454383 |
313 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356976894 rs1267054419 |
314 | K>I | No |
ClinGen TOPMed |
|
|
rs1201599617 CA356976901 |
314 | K>N | No |
ClinGen TOPMed |
|
|
rs762230792 CA2927716 |
315 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA96958392 rs981290499 |
316 | C>Y | No |
ClinGen Ensembl |
|
|
rs768137688 CA2927718 |
318 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA96958394 rs1033748980 |
320 | T>A | No |
ClinGen gnomAD |
|
|
rs749886095 CA2927719 |
322 | I>V | No |
ClinGen ExAC |
|
|
rs1167520031 CA356977110 |
326 | A>S | No |
ClinGen gnomAD |
|
|
rs146420984 CA2927720 |
331 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96958400 rs919182343 |
332 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs202222680 CA2927722 |
332 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376310237 CA2927723 |
334 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778583721 CA2927724 |
335 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000954091 RCV000195210 rs374626758 |
335 | E>missing | No |
ClinVar dbSNP |
|
|
rs752608743 CA2927725 |
336 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356977297 rs1290474717 |
336 | V>M | No |
ClinGen gnomAD |
|
|
rs370433264 CA2927726 |
337 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356977344 rs1404952754 |
339 | T>A | No |
ClinGen gnomAD |
|
|
rs984474013 CA96958407 |
340 | A>S | No |
ClinGen Ensembl |
|
|
rs777818879 CA2927727 |
342 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927728 rs745920718 |
343 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769895661 CA2927729 |
344 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1474619565 CA356977455 |
345 | G>E | No |
ClinGen gnomAD |
|
|
CA2927730 rs780203603 |
345 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221303224 CA356979281 |
349 | K>R | No |
ClinGen gnomAD |
|
|
CA96959033 rs772870272 |
350 | E>G | No |
ClinGen Ensembl |
|
|
CA356979352 rs1264219672 |
351 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2927755 rs773804923 |
355 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs776272871 CA2927759 |
358 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs776272871 CA2927758 |
358 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2927760 rs764769747 |
359 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA356979599 rs1479090279 |
360 | D>G | No |
ClinGen gnomAD |
|
|
CA2927763 rs201345682 |
364 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356979772 rs1468016841 |
365 | M>I | No |
ClinGen gnomAD |
|
|
rs146055907 CA96959045 |
367 | K>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 368 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2927785 COSM1430260 rs774120805 |
375 | C>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774120805 CA356981288 |
375 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424712839 CA356981297 COSM41149 |
375 | C>Y | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2927786 rs761647013 |
376 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2927787 RCV000914625 rs141602415 |
378 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141602415 CA2927788 |
378 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754964499 CA2927789 |
380 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927790 rs765371705 |
381 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356981479 rs1352922341 |
382 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308990240 CA356981528 |
384 | D>G | No |
ClinGen TOPMed |
|
|
CA2927791 rs373032199 |
385 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356981534 rs373032199 |
385 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377505434 CA2927792 |
387 | L>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2927793 rs371016705 |
388 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356981644 rs1291336639 |
393 | E>D | No |
ClinGen gnomAD |
|
|
rs747351997 CA2927794 |
393 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96959467 rs950086071 |
395 | V>I | No |
ClinGen TOPMed |
|
|
CA2927795 rs757729898 |
396 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2927797 rs746403996 |
397 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781746934 CA2927796 |
397 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96959472 rs1045786626 |
401 | Q>E | No |
ClinGen TOPMed |
|
|
CA2927798 rs769123333 |
402 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356981843 rs769123333 |
402 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905979944 CA96959474 |
403 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152292 RCV000116664 RCV000958737 rs62641664 |
407 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356982017 rs1202323114 |
408 | K>N | No |
ClinGen TOPMed |
|
|
rs1346056208 CA356982044 |
410 | V>A | No |
ClinGen TOPMed |
|
|
rs1363332366 CA356982080 |
412 | S>G | No |
ClinGen gnomAD |
|
|
CA96959479 rs915161015 |
415 | V>I | No |
ClinGen Ensembl |
|
|
CA356982142 rs1237036644 |
416 | T>A | No |
ClinGen TOPMed |
|
|
CA2927820 rs747812122 |
418 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771786476 CA356983623 |
418 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771786476 CA2927821 |
418 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458737349 CA356983733 |
420 | L>R | No |
ClinGen gnomAD |
|
|
CA356983743 rs1406798075 |
421 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2927824 rs770877584 |
426 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs202074915 CA2927825 |
426 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356983831 rs202074915 |
426 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451861300 CA356983905 |
429 | L>R | No |
ClinGen TOPMed |
|
|
CA356983947 rs1159504608 |
431 | H>R | No |
ClinGen TOPMed |
|
|
CA356983986 rs1404484975 |
433 | I>L | No |
ClinGen gnomAD |
|
|
CA2927828 rs751769817 |
433 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs762126710 CA2927829 |
435 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767691969 CA2927830 |
435 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1430264 rs750778536 CA2927831 |
436 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs139171602 CA2927832 |
436 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780572305 CA2927833 |
439 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs754425264 CA2927835 |
440 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754363831 CA2927834 |
440 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2927836 rs778399202 |
441 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747722436 CA2927837 |
442 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192961697 CA2927838 |
442 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777336504 CA2927839 |
444 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA356984306 rs1201188816 |
448 | K>Q | No |
ClinGen gnomAD |
|
|
CA2927841 rs143094056 |
450 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1269108355 CA356984357 |
450 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356984425 rs1560405262 |
453 | E>K | No |
ClinGen Ensembl |
|
|
CA2927845 rs76055256 |
454 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2927844 rs76055256 |
454 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356984450 rs1325831067 |
454 | R>Q | No |
ClinGen TOPMed |
|
|
CA356984463 rs1577878190 RCV000855784 |
455 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769922682 CA2927846 |
456 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769922682 CA2927847 |
456 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903021911 CA96960068 |
457 | Y>C | No |
ClinGen TOPMed |
|
|
CA2927850 rs762033058 |
458 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2927851 rs767750797 |
458 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356984527 rs1560405299 |
459 | K>T | No |
ClinGen Ensembl |
|
|
rs1346335360 CA356984573 |
461 | L>V | No |
ClinGen gnomAD |
|
|
CA356984606 rs1281219123 |
462 | E>G | No |
ClinGen gnomAD |
|
|
CA2927853 rs761050563 |
462 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2927854 rs766665020 |
464 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356984709 rs1424340265 |
466 | H>L | No |
ClinGen TOPMed |
|
|
CA356984706 rs1424340265 |
466 | H>R | No |
ClinGen TOPMed |
|
|
CA356984734 rs1165608536 |
467 | I>T | No |
ClinGen TOPMed |
|
|
CA96960076 rs992647755 |
468 | I>T | No |
ClinGen TOPMed |
|
|
CA2927856 COSM1056214 rs755472062 |
469 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2927857 rs138291324 |
470 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2927858 rs141788521 |
470 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001762407 CA208406 rs150578085 RCV000194308 |
471 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2927859 rs200700689 |
471 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2927860 rs746656609 COSM1056215 |
472 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs909435419 CA356984909 |
473 | C>F | No |
ClinGen TOPMed |
|
|
rs909435419 CA96960081 |
473 | C>S | No |
ClinGen TOPMed |
|
|
rs757012540 CA356984938 |
475 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1221269522 CA356984940 |
475 | T>K | No |
ClinGen TOPMed |
|
|
rs757012540 CA2927861 |
475 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426837462 CA356984954 |
476 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA96960084 rs62641663 |
477 | Y>C | No |
ClinGen TOPMed |
|
|
rs1222518030 CA356985046 |
478 | S>G | No |
ClinGen TOPMed |
|
|
CA2927864 rs200040205 |
479 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA96960089 rs1022660609 |
480 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs367627205 CA2927865 |
480 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356985123 rs367627205 |
480 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356985122 rs367627205 |
480 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA96960091 rs772353041 |
481 | E>G | No |
ClinGen Ensembl |
|
|
CA2927866 rs748200077 |
482 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs901497814 CA96960094 |
485 | I>V | No |
ClinGen TOPMed |
|
|
rs773423665 CA2927868 |
489 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1315217324 CA356985414 |
490 | E>G | No |
ClinGen gnomAD |
|
|
CA96960957 rs932795942 |
492 | G>V | No |
ClinGen TOPMed |
|
|
CA2927887 rs565624109 |
494 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1049903459 CA96960959 |
494 | Y>N | No |
ClinGen TOPMed |
|
|
CA2927888 rs771032593 |
495 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183660760 CA96960963 |
496 | S>L | No |
ClinGen 1000Genomes |
|
|
CA356987557 rs1460943425 |
499 | H>P | No |
ClinGen gnomAD |
|
|
rs776875723 CA2927889 |
499 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA96960965 rs966693925 |
500 | Q>H | No |
ClinGen Ensembl |
|
|
rs759850552 CA2927890 |
503 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA356987679 rs1394737668 |
503 | R>K | No |
ClinGen gnomAD |
|
|
CA96960969 rs979521026 |
506 | D>N | No |
ClinGen Ensembl |
|
|
CA356987903 rs1272165099 |
509 | Q>P | No |
ClinGen TOPMed |
|
|
rs778189963 COSM1486017 CA2927893 |
510 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs376581153 CA2927894 |
510 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1284684323 CA356987988 |
511 | M>I | No |
ClinGen TOPMed |
|
|
rs1177108433 CA356988047 |
513 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2927895 rs764723733 |
514 | R>S | No |
ClinGen ExAC |
|
|
rs751016005 CA2927896 |
516 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA356988221 rs1319962027 |
518 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 519 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761426778 CA356988245 |
519 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761426778 CA2927897 |
519 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927898 rs767239422 |
522 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356988346 rs1335819162 |
522 | I>V | No |
ClinGen gnomAD |
|
|
rs1327561720 CA356988399 |
523 | Q>R | No |
ClinGen gnomAD |
|
|
rs866157704 CA96960980 |
524 | S>Y | No |
ClinGen Ensembl |
|
|
rs755916409 CA2927900 |
525 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356988626 rs1323364708 |
531 | A>T | No |
ClinGen gnomAD |
|
|
rs1577882285 CA356988670 |
532 | E>A | No |
ClinGen Ensembl |
|
|
rs1034738523 CA356988725 |
534 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA96960983 rs1034738523 |
534 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2927901 rs188363263 |
536 | L>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2927902 rs753732546 |
539 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1481309129 CA356988952 |
540 | Y>C | No |
ClinGen gnomAD |
|
|
rs139576359 CA2927903 |
540 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356989014 rs1442762087 |
542 | E>* | No |
ClinGen gnomAD |
|
|
COSM3428564 rs766191061 CA2927923 |
543 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356990529 rs1466711806 |
545 | E>K | No |
ClinGen TOPMed |
|
|
rs1424959197 CA356990625 |
546 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356990624 rs1424959197 |
546 | E>K | No |
ClinGen gnomAD |
|
|
CA356990702 rs1205396047 |
548 | S>C | No |
ClinGen gnomAD |
|
|
CA356990739 rs1577883068 |
549 | A>G | No |
ClinGen Ensembl |
|
|
rs1473650117 CA356990727 |
549 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 550 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754837996 CA2927926 |
552 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778671673 CA2927927 |
558 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs115701891 RCV000116666 CA152294 RCV000892545 |
559 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1295581855 CA356991008 |
560 | P>R | No |
ClinGen gnomAD |
|
|
rs540315894 CA96961140 |
561 | H>R | No |
ClinGen 1000Genomes |
|
|
rs1258654371 CA356991014 |
561 | H>Y | No |
ClinGen TOPMed |
|
|
rs757267371 CA2927928 |
562 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1291260508 CA356991041 |
562 | N>S | No |
ClinGen gnomAD |
|
|
CA356991065 rs1479972517 |
564 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356991080 rs1190456023 |
565 | S>G | No |
ClinGen gnomAD |
|
|
CA356991106 rs1327970530 |
566 | L>P | No |
ClinGen TOPMed |
|
|
CA2927930 rs781247883 |
567 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206612673 CA356991114 |
567 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA96961144 rs895158386 |
569 | K>R | No |
ClinGen Ensembl |
|
|
rs560039084 CA2927932 |
570 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746009277 CA2927931 |
570 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1444689633 CA356991256 |
572 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780368112 CA2927933 |
572 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2927934 rs556101805 |
573 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769088371 CA2927935 |
574 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2927936 rs146236232 |
574 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356991357 rs1290933327 |
576 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748672127 CA2927939 |
578 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927940 rs772771471 |
578 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2927941 rs372519963 |
579 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318828049 CA356991416 |
580 | R>I | No |
ClinGen TOPMed |
|
|
rs906651375 CA96961154 |
581 | I>T | No |
ClinGen gnomAD |
|
|
CA2927942 rs776373163 |
582 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs144041768 RCV000116667 CA231010 |
582 | M>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2927944 rs765091582 |
586 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356991542 rs1352664677 |
588 | L>S | No |
ClinGen gnomAD |
|
|
CA356991540 rs1349648127 |
588 | L>V | No |
ClinGen gnomAD |
|
|
CA96961158 rs146424747 |
589 | R>T | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 590 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752503698 CA2927945 |
590 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244854953 CA356991564 |
590 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 591 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148601922 CA2927946 |
592 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 592 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2927967 rs756133244 |
594 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1175944093 CA356993034 |
594 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs766487835 CA356993047 |
595 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766487835 CA2927968 |
595 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927969 rs753934666 |
596 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927970 rs755211249 |
598 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs758861444 CA2927973 |
604 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778375969 CA2927974 |
608 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747531563 CA2927975 |
609 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2927976 rs529449547 |
610 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2927977 rs780746431 |
612 | H>R | No |
ClinGen ExAC TOPMed |
|
|
rs1204536814 CA356993257 |
612 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2927978 rs1553891322 |
614 | T>I | No |
ClinGen Ensembl |
|
|
rs370195836 CA96961854 |
615 | C>R | No |
ClinGen ESP TOPMed |
|
|
rs745420713 CA2927980 |
615 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs775156137 CA2927983 |
618 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2927982 rs769458148 |
618 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376553815 RCV000193372 CA206819 |
622 | S>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2928003 rs372965500 |
623 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2928004 rs769209493 |
625 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356994609 rs1560412924 |
629 | S>P | No |
ClinGen Ensembl |
|
|
rs779627805 CA2928005 |
630 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2928007 rs768367640 |
632 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748947242 CA2928006 |
632 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs142984857 CA2928008 |
634 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356994711 rs1247906747 |
635 | K>R | No |
ClinGen gnomAD |
|
|
CA97573739 rs767034556 |
636 | E>K | No |
ClinGen gnomAD |
|
|
CA2928009 rs761560021 |
638 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772012146 CA2928010 |
640 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765420745 CA2928013 |
644 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2928015 rs763261926 |
646 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356994908 rs1411838440 |
648 | Q>K | No |
ClinGen Ensembl |
|
|
rs1336897811 CA356994951 |
650 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2928019 rs781689000 |
652 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1280897267 CA356994996 |
652 | F>S | No |
ClinGen gnomAD |
|
|
CA2928020 rs750911905 |
654 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs755588182 CA2928022 |
655 | V>A | No |
ClinGen ExAC |
|
|
CA2928023 rs139076012 |
656 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356995055 rs139076012 |
656 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754599578 CA2928025 |
657 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046987866 CA97573894 |
658 | D>N | No |
ClinGen TOPMed |
|
|
rs747930985 CA2928027 |
659 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1241742126 CA356995146 |
662 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 664 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 665 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185723477 CA356995201 |
665 | E>G | No |
ClinGen gnomAD |
|
|
CA356995218 rs1577892086 |
666 | V>G | No |
ClinGen Ensembl |
|
|
rs1234767456 CA356995224 |
667 | N>D | No |
ClinGen gnomAD |
|
| rs756603481 | 678 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377176971 | 678 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 681 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1476764151 | 686 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000898752 rs139407231 RCV000500350 |
689 | I>V | No |
ClinVar dbSNP |
|
|
rs779870877 RCV002647019 |
691 | R>missing | No |
ClinVar dbSNP |
|
|
rs192298126 RCV000886786 |
705 | E>D | No |
ClinVar dbSNP |
|
|
RCV000486425 rs370414021 |
705 | E>G | No |
ClinVar dbSNP |
|
| rs748311087 | 735 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 741 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553893104 RCV000599080 |
759 | N>missing | No |
ClinVar dbSNP |
|
|
RCV000116668 RCV001657704 VAR_057785 rs3214045 |
769 | I>L | No |
ClinVar UniProt dbSNP |
|
| rs765207289 | 788 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs138305619 | 790 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs149552948 | 790 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs138305619 | 790 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143195447 RCV001818789 RCV000905984 |
800 | D>H | No |
ClinVar dbSNP |
|
| rs199977626 | 807 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000116665 rs202214171 |
812 | S>F | No |
ClinVar dbSNP |
|
| rs1279411788 | 819 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs148279836 | 824 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 833 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 836 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553894675 RCV000578782 |
865 | W>* | No |
ClinVar dbSNP |
|
| TCGA novel | 877 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 878 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 887 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 888 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1041673125 RCV000502420 |
897 | A>V | No |
ClinVar dbSNP |
|
| rs369943972 | 922 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763073286 | 922 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000193492 rs145959811 RCV000892835 |
923 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 931 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs911801070 | 954 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 979 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 985 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000116673 RCV000176328 rs146076380 |
997 | S>L | No |
ClinVar dbSNP |
|
| TCGA novel | 1004 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1021 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768288451 | 1034 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370534878 | 1038 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1040 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1045 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781300766 RCV000481911 |
1053 | E>* | No |
ClinVar dbSNP |
|
| TCGA novel | 1066 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1072 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1072 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1075 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41280347 RCV000260333 |
1077 | R>Q | No |
ClinVar dbSNP |
|
| TCGA novel | 1083 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201733608 | 1083 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76659072 RCV000898080 RCV000192575 |
1089 | L>I | No |
ClinVar dbSNP |
|
| rs145519211 | 1106 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745603844 RCV000193598 RCV002517065 RCV002252044 |
1107 | R>Q | No |
ClinVar dbSNP |
|
| TCGA novel | 1108 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779689049 | 1115 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs191813321 | 1116 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q66GS9
[MIM: 614673]: Microcephaly 8, primary, autosomal recessive (MCPH8)
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269|PubMed:22521416}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269|PubMed:22521416}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q66GS9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q66GS9 | |||
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| centriole replication | The cell cycle process in which a daughter centriole is formed perpendicular to an existing centriole. An immature centriole contains a ninefold radially symmetric array of single microtubules; mature centrioles consist of a radial array of nine microtubule triplets, doublets, or singlets depending upon the species and cell type. Duplicated centrioles also become the ciliary basal body in cells that form cilia during G0. |
| centriole-centriole cohesion | The cell cycle process in which the two centrioles within a centrosome remain tightly paired. |
| positive regulation of establishment of protein localization | Any process that activates or increases the frequency, rate or extent of establishment of protein localization. |
| positive regulation of non-motile cilium assembly | Any process that activates or increases the frequency, rate or extent of non-motile cilium assembly. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTAVERKYI | NIRKRLDQLG | YRQTLTVECL | PLVEKLFSDL | VHTTESLRQS | KLSAVKAEKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SANFDFVLEP | YKLENARLSR | ENNELYLELM | KLREHSDQHV | KELKTSLKKC | ARETADLKFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNQYAHKLKL | LEKESKAKNE | RIQQLQEKNL | HAVVQTPGGK | KRSIAFRRQR | MQIDEPVPPS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EVSSYPVPQP | DDPYIADLLQ | VADNRIQELQ | QEVHQLQEKL | AMMESGVRDY | SKQIELRERE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IERLSVALDG | GRSPDVLSLE | SRNKTNEKLI | AHLNIQVDFL | QQANKDLEKR | IRELMETKET |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VTSEVVNLSN | KNEKLCQELT | EIDQLAQQLE | RHKEEVLETA | DKELGEAKKE | IKRKLSEMQD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LEETMAKLQL | ELNLCQKEKE | RLSDELLVKS | DLETVVHQLE | QEKQRLSKKV | ESFAVTERQL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TLEVERMRLE | HGIKRRDRSP | SRLDTFLKGI | EEERDYYKKE | LERLQHIIQR | RSCSTSYSAR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKSSIFRTPE | KGDYNSEIHQ | ITRERDELQR | MLERFEKYME | DIQSNVKLLT | AERDKLSVLY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NEAQEELSAL | RKESTQTTAP | HNIVSLMEKE | KELALSDLRR | IMAEKEALRE | KLEHIEEVSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FGKSELEKTI | EHLTCVNHQL | ESEKYELKSK | VLIMKETIES | LENKLKVQAQ | KFSHVAGDSS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HQKTEVNSLR | IVNEQLQRSV | DDYQHRLSIK | RGELESAQAQ | IKILEEKIDE | LNLKMTSQDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EAHVMKKTIG | VIDKEKDFLQ | ETVDEKTEKI | ANLQENLANK | EKAVAQMKIM | ISECESSVNQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LKETLVNRDR | EINSLRRQLD | AAHKELDEVG | RSREIAFKEN | RRLQDDLATM | ARENQEISLE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LEAAVQEKEE | MKSRVHKYIT | EVSRWESLMA | AKEKENQDLL | DRFQMLHNRA | EDWEVKAHQA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EGESSSVRLE | LLSIDTERRH | LRERVELLEK | EIQEHINAHH | AYESQISSMA | KAMSRLEEEL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RHQEDEKATV | LNDLSSLREL | CIKLDSGKDI | MTQQLNSKNL | EFERVVVELE | NVKSESDLLK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KQLSNERHTV | KNLESLLATN | RDKEFHSHLT | SHEKDTEIQL | LKEKLTLSES | KLTSQSRENT |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| MLRAKVAQLQ | TDYDALKRQI | STERYERERA | IQEMRRHGLA | TPPLSSTLRS | PSHSPEHRNV |