Q15131
PR
Gene name |
CDK10 |
Protein name |
Cyclin-dependent kinase 10 |
Names |
Cell division protein kinase 10, Serine/threonine-protein kinase PISSLRE |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8558 |
EC number |
2.7.11.22: Protein-serine/threonine kinases |
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
180-203 (Activation loop from InterPro)
Target domain |
31-339 (Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 10) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q15131
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15131-F1 | Predicted | AlphaFoldDB |
453 variants for Q15131
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1555516716 RCV000509002 |
47 | E>missing | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8247760 rs141061239 RCV001532330 RCV002546493 RCV001331580 |
57 | R>W | Al Kaissi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267315 rs2060399733 |
60 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138561644 RCV001328630 |
88 | T>R | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336260 rs1420247770 |
99 | V>L | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001328628 rs141041987 CA8247953 |
176 | C>S | Al Kaissi syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597864006 RCV001004864 |
184 | L>missing | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001328629 rs145469184 CA8248037 |
221 | D>N | Variant assessed as Somatic; 9.245e-05 impact. Al Kaissi syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001336259 CA8248125 rs753881294 |
228 | I>M | Al Kaissi syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001729831 RCV001268115 rs2060622260 |
244 | E>missing | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2060691897 RCV001328631 |
355 | S>R | Al Kaissi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8248329 RCV002526371 rs772157816 RCV000454330 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746422526 CA397418452 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372094248 CA397418450 |
2 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8247614 rs372094248 |
2 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746422526 CA8247615 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418459 rs1263639330 |
3 | E>D | No |
ClinGen gnomAD |
|
|
rs1239859776 CA397418453 |
3 | E>K | No |
ClinGen Ensembl |
|
|
rs187319559 CA8247616 |
4 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs533674867 CA8247618 |
4 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8247617 rs533674867 |
4 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187319559 CA397418461 |
4 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8247621 rs773033679 CA397418470 |
5 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA397418464 rs1473070035 |
5 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA397418465 rs1473070035 |
5 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA286529764 rs770812504 |
6 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA286529769 COSM1749833 rs912477466 |
6 | L>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8247623 rs770812504 |
6 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767483667 CA8247625 |
7 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA397418475 rs1375243070 |
7 | E>A | No |
ClinGen gnomAD |
|
|
rs1413373443 CA397418479 |
7 | E>D | No |
ClinGen gnomAD |
|
|
CA397418481 rs775492263 |
8 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775492263 CA8247626 |
8 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8247629 rs188849219 |
9 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397418487 rs188849219 |
9 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8247628 rs188849219 |
9 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200739575 CA8247631 |
10 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8247630 rs200739575 |
10 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567506619 CA397418495 |
10 | Q>H | No |
ClinGen Ensembl |
|
|
rs373513801 CA8247632 |
10 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373513801 CA397418494 |
10 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373513801 CA8247633 |
10 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747623527 CA8247635 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755709166 CA8247636 |
13 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418517 rs1258010770 |
14 | K>R | No |
ClinGen gnomAD |
|
|
rs1258010770 CA397418516 |
14 | K>T | No |
ClinGen gnomAD |
|
|
rs777545482 CA8247637 |
15 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418523 rs748993161 |
15 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs748993161 CA8247638 |
15 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA286529888 rs1052543311 |
16 | I>F | No |
ClinGen TOPMed |
|
|
rs1189812689 CA397418529 |
16 | I>S | No |
ClinGen TOPMed |
|
|
rs1052543311 CA397418528 |
16 | I>V | No |
ClinGen TOPMed |
|
|
rs770631824 CA8247639 |
17 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8247641 rs745665736 |
18 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775424902 CA397418550 |
19 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772003901 CA8247642 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764194484 CA8247645 |
20 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369118585 CA8247644 |
20 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418561 rs1263725313 |
21 | F>C | No |
ClinGen TOPMed |
|
|
CA397418562 rs762152056 |
21 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309317821 CA397418565 |
22 | F>L | No |
ClinGen gnomAD |
|
|
CA397418570 CA397418571 rs1346792153 |
22 | F>L | No |
ClinGen gnomAD |
|
|
rs199980902 CA8247648 |
23 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345399719 CA397418588 |
25 | P>L | No |
ClinGen gnomAD |
|
|
CA397418583 rs1295291670 |
25 | P>T | No |
ClinGen TOPMed |
|
|
CA397418590 rs766945102 |
26 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8247651 rs766945102 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs552706743 CA8247652 |
27 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1179411371 CA397418604 |
28 | H>P | No |
ClinGen gnomAD |
|
|
CA397418603 rs1459008757 |
28 | H>Y | No |
ClinGen gnomAD |
|
|
CA8247655 rs375838804 |
29 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418611 rs375838804 |
29 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418884 rs1158088246 |
30 | L>P | No |
ClinGen gnomAD |
|
|
rs1158088246 CA397418885 |
30 | L>R | No |
ClinGen gnomAD |
|
|
rs751264841 CA8247714 |
31 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA397418888 rs1378766917 CA397418887 |
31 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754738309 CA8247715 |
32 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8247716 rs754738309 |
32 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs977440563 CA286532439 |
32 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8247718 rs755952324 |
34 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8247717 rs367799151 |
34 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1452795267 CA397418941 |
36 | V>M | No |
ClinGen gnomAD |
|
|
rs1295393303 CA397419019 |
40 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA286532451 rs919514251 |
42 | L>R | No |
ClinGen Ensembl |
|
|
rs749342365 CA8247720 |
42 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs757437206 CA8247721 |
44 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8247722 rs779244648 |
44 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8247723 rs746155858 |
45 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA286532454 rs201503857 |
47 | E>Q | No |
ClinGen gnomAD |
|
|
rs1567512438 CA397419125 |
48 | G>V | No |
ClinGen Ensembl |
|
|
rs1319596174 CA397419136 |
49 | T>P | No |
ClinGen TOPMed |
|
|
rs775658783 CA8247725 |
50 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs938780672 CA286532481 |
51 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA397419189 rs1404836299 |
53 | V>M | No |
ClinGen TOPMed |
|
|
CA8247758 rs779865826 |
55 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780115300 CA8247759 |
56 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201199948 CA8247761 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286533350 rs1041882885 |
58 | D>N | No |
ClinGen Ensembl |
|
|
CA286533353 rs904694826 |
59 | T>S | No |
ClinGen Ensembl |
|
|
rs1438771265 CA397420016 |
61 | T>I | No |
ClinGen TOPMed |
|
|
rs1296103476 CA397420041 |
62 | D>E | No |
ClinGen gnomAD |
|
|
CA397420035 rs1567514585 |
62 | D>G | No |
ClinGen Ensembl |
|
|
CA397420065 rs1342365016 |
63 | E>D | No |
ClinGen gnomAD |
|
|
CA8247762 rs559170845 |
64 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000247057 CA286533363 |
66 | A>G | No |
ClinGen Ensembl |
|
|
CA8247763 rs748526308 COSM974919 |
66 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA397420227 rs1567514659 |
70 | V>A | No |
ClinGen Ensembl |
|
|
rs1323382971 CA397420222 |
70 | V>M | No |
ClinGen TOPMed |
|
|
rs545928273 CA8247766 |
71 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8247765 rs778288647 |
71 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA286533373 rs904069022 |
72 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397420277 rs1410967938 |
73 | D>V | No |
ClinGen Ensembl |
|
|
CA8247768 rs774998084 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1265716105 | 76 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 78 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470299558 CA397420455 |
78 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA397420344 rs1254913826 |
78 | G>S | No |
ClinGen gnomAD |
|
|
rs1470299558 CA397420459 |
78 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1422709848 CA397420481 |
80 | P>H | No |
ClinGen gnomAD |
|
|
rs1422709848 CA397420485 |
80 | P>L | No |
ClinGen gnomAD |
|
|
CA8247798 rs767682288 |
81 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1219070901 CA397420498 |
81 | I>N | No |
ClinGen TOPMed |
|
|
CA8247799 rs752968620 |
83 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA397420531 rs1422796122 |
83 | S>I | No |
ClinGen gnomAD |
|
|
rs144667632 CA397420550 |
85 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757712230 CA8247803 |
85 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144667632 CA8247801 |
85 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397420555 rs1292161490 |
86 | E>K | No |
ClinGen gnomAD |
|
|
rs138561644 CA8247805 |
88 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8247808 rs780959674 |
89 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8247809 rs370885215 |
92 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373968493 CA8247810 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1220315383 CA397420602 |
93 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1220315383 CA397420600 |
93 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8247811 rs184050237 COSM974920 |
94 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749041801 CA8247812 |
94 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286534246 rs749041801 |
94 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770863327 CA8247814 |
95 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770863327 CA8247813 |
95 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55819627 VAR_041983 CA8247815 |
96 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs188735443 CA8247818 |
98 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1420247770 CA397420666 |
99 | V>M | No |
ClinGen gnomAD |
|
|
CA397420678 rs1405009444 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA397420707 rs1189049524 |
102 | K>E | No |
ClinGen TOPMed |
|
|
rs1162895099 CA397420728 |
103 | E>V | No |
ClinGen gnomAD |
|
|
CA397420745 rs1597852554 |
104 | V>G | No |
ClinGen Ensembl |
|
|
rs1323709429 CA397420790 |
108 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397420802 rs1212845250 |
109 | H>Y | No |
ClinGen gnomAD |
|
|
rs1315976004 CA397420833 |
111 | E>G | No |
ClinGen TOPMed |
|
|
CA397420845 rs1257581857 |
112 | S>N | No |
ClinGen TOPMed |
|
|
CA397420983 rs1159501552 |
114 | F>L | No |
ClinGen gnomAD |
|
|
rs778742347 CA8247849 |
116 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1407594999 CA397421032 |
117 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1567517001 CA397421022 |
117 | M>V | No |
ClinGen Ensembl |
|
|
CA8247850 rs745663117 |
118 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333597340 CA397421078 |
120 | C>Y | No |
ClinGen gnomAD |
|
|
CA8247852 rs758287433 |
122 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397421102 rs758287433 |
122 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369894921 CA286534529 |
123 | D>Y | No |
ClinGen ESP |
|
|
rs1567517168 CA397421135 |
124 | L>P | No |
ClinGen Ensembl |
|
|
CA8247853 rs779986031 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8247855 rs371830505 |
126 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397421160 rs1265101327 |
126 | S>R | No |
ClinGen gnomAD |
|
|
CA286534545 rs982101951 |
128 | L>P | No |
ClinGen TOPMed |
|
|
rs1461863275 CA397421179 |
129 | E>K | No |
ClinGen gnomAD |
|
|
rs1299773675 CA397421217 |
131 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1299773675 CA397421216 |
131 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1439776844 CA397421239 |
132 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1236644664 CA397421230 |
132 | P>T | No |
ClinGen gnomAD |
|
|
rs748377182 CA8247857 |
133 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397421260 rs1477340121 |
134 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143430910 CA8247858 COSM974921 |
136 | S>L | Variant assessed as Somatic; 0.0002777 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397421300 rs1277201742 |
136 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs763444652 CA8247860 |
138 | A>G | No |
ClinGen ExAC |
|
| TCGA novel | 138 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330075181 CA397421347 |
139 | Q>E | No |
ClinGen gnomAD |
|
|
rs866278743 CA397421350 |
139 | Q>L | No |
ClinGen gnomAD |
|
|
rs866278743 CA286534574 |
139 | Q>R | No |
ClinGen gnomAD |
|
|
rs761194408 CA8247903 |
140 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761194408 CA286535147 |
140 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761194408 CA8247902 |
140 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201048882 CA286535150 |
141 | K>E | No |
ClinGen Ensembl |
|
|
CA397421801 rs1241927704 |
142 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs558859177 CA8247904 |
143 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558859177 CA397421806 |
143 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536024017 CA8247906 |
144 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397421824 rs1346960217 |
146 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8247908 rs759397788 |
148 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302349792 CA397421840 |
148 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756260827 CA8247911 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142000758 CA8247909 |
149 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397421848 rs1475685103 |
150 | G>A | No |
ClinGen TOPMed |
|
|
CA397421844 rs1316039267 |
150 | G>S | No |
ClinGen gnomAD |
|
|
CA397421851 rs1323745380 |
151 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222491604 CA397421858 |
152 | Q>* | No |
ClinGen gnomAD |
|
|
CA919769067 rs1567518512 |
153 | Y>* | No |
ClinGen Ensembl |
|
|
CA8247913 rs753984624 |
153 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA397421868 rs1191727848 |
153 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8247914 rs757491976 |
154 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA286535191 rs934543687 |
158 | F>V | No |
ClinGen gnomAD |
|
|
CA286535196 rs939360660 |
159 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779214756 CA8247915 |
160 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs746192389 CA8247916 |
160 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8247917 rs772524519 |
161 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA397422148 rs1323084194 |
166 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA286536282 rs56340740 VAR_041984 |
168 | N>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA397422196 rs1212265268 |
169 | L>F | No |
ClinGen gnomAD |
|
|
CA286536288 rs952547483 |
169 | L>S | No |
ClinGen Ensembl |
|
|
CA286536295 rs772274862 |
170 | L>F | No |
ClinGen Ensembl |
|
|
CA286536297 rs951940804 |
172 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1375172722 CA397422226 |
172 | T>I | No |
ClinGen TOPMed |
|
|
CA8247950 rs761791271 |
173 | D>E | No |
ClinGen ExAC |
|
|
rs776745688 CA8247948 |
173 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA286536330 rs775505410 |
174 | K>N | No |
ClinGen Ensembl |
|
|
rs1416629783 CA397422253 |
175 | G>D | No |
ClinGen TOPMed |
|
|
rs750479912 CA8247951 |
175 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397422260 rs141041987 |
176 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139238175 CA8247954 |
177 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200556489 CA286536358 |
179 | T>R | No |
ClinGen 1000Genomes |
|
|
rs773301546 CA8247972 |
180 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8247975 CA397422413 rs376029099 |
182 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8247976 rs759891268 |
183 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1402882563 CA397422451 |
185 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA286536532 rs573212914 |
186 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367840282 CA286536546 |
186 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs573212914 CA8247978 |
186 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8247979 rs756580199 |
187 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778178805 CA8247980 |
188 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397422521 rs1278670532 |
189 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749903522 CA8247981 |
189 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1230393774 CA397422526 |
190 | V>I | No |
ClinGen TOPMed |
|
|
rs1270154501 CA397422546 |
191 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1360264973 CA397422542 |
191 | P>S | No |
ClinGen TOPMed |
|
|
rs768433779 CA286536590 |
192 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768433779 CA8247985 |
192 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397422571 rs1201829461 |
193 | K>N | No |
ClinGen gnomAD |
|
|
CA397422593 rs1348953377 |
195 | M>T | No |
ClinGen TOPMed |
|
|
rs564394105 CA8247986 |
195 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286536629 rs747925198 |
196 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8247987 rs747925198 |
196 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397422641 rs1362376743 CA397422642 |
199 | V>L | No |
ClinGen gnomAD |
|
|
rs1471460384 CA397422648 |
200 | V>I | No |
ClinGen gnomAD |
|
|
rs1011969543 CA286536650 |
201 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA397422663 rs1011969543 |
201 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1450005193 CA397422674 |
202 | L>P | No |
ClinGen TOPMed |
|
|
rs763057990 CA8247990 |
202 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA397422817 rs1422483421 |
204 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA397422809 rs1597868219 |
204 | Y>S | No |
ClinGen Ensembl |
|
|
rs147512172 CA8248023 |
205 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147512172 CA397422819 |
205 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397422826 rs1391347309 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA397422834 rs1381790419 |
206 | A>G | No |
ClinGen gnomAD |
|
|
rs1174064015 CA397422829 |
206 | A>T | No |
ClinGen TOPMed |
|
|
CA286537537 rs987278514 |
207 | P>A | No |
ClinGen TOPMed |
|
|
rs755931698 CA286537542 |
207 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755931698 CA8248024 |
207 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397422840 rs987278514 |
207 | P>S | No |
ClinGen TOPMed |
|
|
CA397422851 rs1471841699 |
208 | E>Q | No |
ClinGen TOPMed |
|
|
rs777362951 CA8248025 |
209 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1183612923 CA397422875 |
210 | L>Q | No |
ClinGen TOPMed |
|
|
CA8248026 rs749119494 |
212 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397422904 rs1481898858 |
212 | G>R | No |
ClinGen TOPMed |
|
|
CA8248027 rs372466549 |
213 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA8248029 rs745912573 |
214 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1204041239 CA397422955 |
215 | T>A | No |
ClinGen gnomAD |
|
|
CA397422964 rs772201457 |
215 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772201457 CA8248030 |
215 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248032 rs747136815 |
216 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8248033 rs768939104 |
218 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397423022 rs1165236722 |
219 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8248036 rs762300822 |
220 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1452901601 CA397423046 |
220 | I>S | No |
ClinGen gnomAD |
|
|
rs376207812 CA8248034 |
220 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8248038 rs759103825 |
221 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs767050911 RCV001171589 |
222 | M>missing | No |
ClinVar dbSNP |
|
|
rs1173648144 CA397423096 |
223 | W>* | No |
ClinGen gnomAD |
|
|
CA397424106 rs1478116297 |
224 | A>P | No |
ClinGen gnomAD |
|
|
CA397424110 rs1597872657 |
224 | A>V | No |
ClinGen Ensembl |
|
|
rs760822178 CA397424128 |
227 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1200533 rs775614292 CA8248122 |
227 | C>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8248124 rs764331889 |
228 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8248126 rs757456340 |
229 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397424154 rs1344821845 |
231 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs750772459 CA8248128 |
231 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1344821845 CA397424150 |
231 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1487755325 CA397424175 |
233 | L>V | No |
ClinGen gnomAD |
|
|
CA397424185 rs1207559856 |
234 | A>T | No |
ClinGen gnomAD |
|
|
CA397424195 rs1268776590 |
234 | A>V | No |
ClinGen gnomAD |
|
|
CA397424202 rs1387911341 |
235 | H>P | No |
ClinGen gnomAD |
|
|
CA8248131 rs752126852 |
235 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168984080 CA397424216 |
236 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1384538840 CA397424221 |
236 | R>S | No |
ClinGen gnomAD |
|
|
CA397424213 rs1451161253 |
236 | R>W | No |
ClinGen gnomAD |
|
|
rs1456285080 CA397424228 |
237 | P>S | No |
ClinGen gnomAD |
|
|
rs755481331 CA8248132 |
238 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA397424237 rs755481331 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA397424247 rs1391596503 |
239 | L>F | No |
ClinGen gnomAD |
|
|
CA397424244 rs1391596503 |
239 | L>I | No |
ClinGen gnomAD |
|
|
rs1318856804 CA397424257 |
240 | P>A | No |
ClinGen gnomAD |
|
|
CA286541864 rs1016440724 |
240 | P>L | No |
ClinGen TOPMed |
|
|
rs199997932 CA397424265 |
241 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248134 rs199997932 |
241 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397424281 rs1060499745 |
242 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000454194 rs1060499745 CA16609537 |
242 | T>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1266512539 CA397424292 |
243 | S>C | No |
ClinGen gnomAD |
|
|
CA397424294 rs1266512539 |
243 | S>F | No |
ClinGen gnomAD |
|
|
rs1245885264 CA397424306 |
244 | E>G | No |
ClinGen gnomAD |
|
|
rs778469201 CA8248137 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778469201 CA397424299 |
244 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA397424318 rs1388367832 |
245 | I>F | No |
ClinGen TOPMed |
|
|
CA397424345 rs539375824 |
246 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA397424377 rs772047655 |
248 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248138 rs745633752 |
248 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248140 rs377692640 |
249 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA8248141 rs760619878 |
251 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397424419 rs148725262 |
252 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148725262 CA8248143 |
252 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361063672 CA397424436 |
253 | Q>H | No |
ClinGen TOPMed |
|
|
CA286541963 rs557468371 |
254 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA397424464 rs868250026 |
256 | G>A | No |
ClinGen gnomAD |
|
|
CA286541977 rs868250026 |
256 | G>D | No |
ClinGen gnomAD |
|
|
CA397424476 rs1457917965 |
257 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA286541983 rs980050737 |
258 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8248145 rs765478074 |
259 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA397424505 rs1344613995 |
262 | I>L | No |
ClinGen TOPMed |
|
|
CA8248146 rs576281694 |
263 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8248148 rs766664344 |
264 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8248147 rs763305615 |
264 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA397424545 rs1306864692 |
266 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA286542283 rs1034295178 |
268 | K>R | No |
ClinGen TOPMed |
|
|
rs1455607900 CA397424572 |
270 | P>Q | No |
ClinGen TOPMed |
|
|
CA8248185 rs753198792 |
273 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140174745 CA8248187 |
274 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA286542296 rs1032703891 |
274 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749963895 CA8248188 |
277 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8248191 rs374049711 |
278 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8248190 rs374049711 |
278 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397424617 rs1486693594 |
278 | R>W | No |
ClinGen TOPMed |
|
|
CA8248193 rs754790195 |
279 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1220943156 CA397424646 |
282 | Y>* | No |
ClinGen gnomAD |
|
|
rs769784266 CA8248195 |
282 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA397424663 rs1225259841 |
284 | N>K | No |
ClinGen TOPMed |
|
|
rs749401269 CA286542425 |
287 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs749401269 CA8248197 |
287 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192044661 CA397424698 |
289 | F>L | No |
ClinGen gnomAD |
|
|
CA397424694 rs1296503881 |
289 | F>Y | No |
ClinGen TOPMed |
|
|
CA286542471 rs867304084 |
291 | W>* | No |
ClinGen Ensembl |
|
|
CA8248202 rs767833852 |
291 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA397424720 rs1597876452 |
293 | S>A | No |
ClinGen Ensembl |
|
|
CA8248203 rs775925838 |
293 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597876512 CA397424727 |
294 | E>G | No |
ClinGen Ensembl |
|
|
CA397424735 rs1597876544 |
295 | A>G | No |
ClinGen Ensembl |
|
|
rs761026492 CA397424731 |
295 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761026492 CA8248204 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286542511 rs907552522 |
296 | G>R | No |
ClinGen Ensembl |
|
|
CA286542521 rs942246249 |
298 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8248208 rs376865715 |
298 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397424749 rs376865715 |
298 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286542545 rs1045488108 |
301 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1227634323 CA397424766 |
301 | H>Q | No |
ClinGen gnomAD |
|
|
rs751239290 CA8248210 |
302 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754664515 CA8248211 |
303 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755964645 CA8248214 |
304 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8248213 rs747998262 |
304 | F>S | No |
ClinGen ExAC |
|
|
rs370403313 CA8248217 |
305 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397424787 rs1372055372 |
305 | M>T | No |
ClinGen gnomAD |
|
|
rs201380446 CA8248216 |
305 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397424797 rs932133225 |
306 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1180679102 CA397424802 |
307 | D>G | No |
ClinGen gnomAD |
|
|
CA8248218 rs774549236 |
307 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248220 rs772349612 |
308 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA286542645 rs879562633 |
308 | P>S | No |
ClinGen Ensembl |
|
|
CA8248221 rs775664961 |
309 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA286542655 rs200702119 |
310 | K>T | No |
ClinGen 1000Genomes |
|
|
rs1025656724 CA286542662 |
311 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA397424827 rs1025656724 |
311 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA397424843 rs1322972270 |
312 | A>T | No |
ClinGen TOPMed |
|
|
rs780139658 CA8248257 |
312 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA397424849 rs1273112141 |
313 | T>A | No |
ClinGen gnomAD |
|
|
COSM1520282 CA8248259 rs151021544 |
313 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397424858 rs1250565281 |
314 | A>V | No |
ClinGen gnomAD |
|
|
rs368575392 CA8248263 |
315 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758954020 CA8248264 |
316 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA397424864 rs1248076299 |
316 | D>N | No |
ClinGen gnomAD |
|
|
CA397424874 rs1167661571 |
317 | C>Y | No |
ClinGen gnomAD |
|
|
rs760259251 CA8248267 |
319 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8248268 rs763754481 |
320 | S>G | No |
ClinGen ExAC |
|
|
rs776368383 CA8248269 |
320 | S>N | No |
ClinGen ExAC gnomAD |
|
| rs776867173 | 321 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761632963 CA8248270 |
321 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438763580 CA397424898 |
321 | S>P | No |
ClinGen TOPMed |
|
|
rs1325845216 CA397424906 |
322 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 322 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755140395 CA286543100 |
323 | F>I | No |
ClinGen Ensembl |
|
|
CA397424945 rs1597879589 |
327 | P>L | No |
ClinGen Ensembl |
|
|
rs750444758 CA8248272 |
327 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1228841878 CA397424949 |
328 | L>P | No |
ClinGen gnomAD |
|
|
rs1410459736 CA397425537 |
329 | P>L | No |
ClinGen gnomAD |
|
|
rs371846308 CA8248274 |
329 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175838715 CA397425543 |
330 | C>Y | No |
ClinGen gnomAD |
|
|
rs1424997818 CA397425559 |
331 | E>V | No |
ClinGen gnomAD |
|
|
rs747783107 CA8248304 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397425570 rs1376328141 |
332 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397425598 rs1408694189 |
334 | L>F | No |
ClinGen gnomAD |
|
|
rs1305587903 CA397425607 |
335 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8248307 rs376166473 |
336 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1375114418 CA397425626 |
336 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 337 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA286543479 rs1130977 |
338 | F>I | No |
ClinGen TOPMed |
|
|
CA397425635 rs1130977 |
338 | F>L | No |
ClinGen TOPMed |
|
|
CA397425644 rs1236209868 |
339 | P>S | No |
ClinGen gnomAD |
|
|
CA8248309 rs774487295 |
341 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA286543497 rs759683069 |
342 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8248311 VAR_041985 rs55757604 |
342 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA8248310 rs759683069 |
342 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265522537 CA397425690 |
344 | K>N | No |
ClinGen gnomAD |
|
|
rs1190880874 CA397425689 |
344 | K>R | No |
ClinGen gnomAD |
|
|
rs202105291 CA8248312 |
345 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370429550 CA8248314 |
345 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8248313 rs202105291 |
345 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA397425699 rs1597882131 |
346 | A>P | No |
ClinGen Ensembl |
|
|
rs754196704 CA8248316 |
346 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8248318 rs199898484 |
347 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750866010 CA8248319 |
347 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370511293 CA8248321 |
348 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8248320 rs758922637 |
348 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364966083 CA397425728 |
349 | A>T | No |
ClinGen gnomAD |
|
|
CA8248322 rs201210208 |
350 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777340597 CA397425755 |
351 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397425757 rs777340597 |
351 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397425750 rs1364418782 |
351 | S>P | No |
ClinGen gnomAD |
|
|
rs777340597 CA8248324 |
351 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397425767 rs1220925817 |
352 | E>D | No |
ClinGen gnomAD |
|
|
CA8248326 rs376294252 |
352 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA286543600 rs1008534490 |
353 | G>D | No |
ClinGen Ensembl |
|
|
CA397425784 rs1263906843 |
354 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA286543601 rs1018626333 |
356 | K>R | No |
ClinGen TOPMed |
|
|
CA8248328 rs201812075 |
357 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775594990 CA8248330 |
358 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8248331 rs56242003 VAR_041986 |
358 | C>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
rs764352611 CA8248332 |
359 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754062493 CA8248333 |
360 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q15131
[MIM: 617694]: Al Kaissi syndrome (ALKAS)
An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay. {ECO:0000269|PubMed:28886341}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay. {ECO:0000269|PubMed:28886341}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q15131
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.22 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cyclin-dependent protein kinase holoenzyme complex | Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cyclin-dependent protein serine/threonine kinase activity | Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cilium assembly | Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of cell cycle G2/M phase transition | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the cell cycle. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| traversing start control point of mitotic cell cycle | A cell cycle process by which a cell commits to entering S phase via a positive feedback mechanism between the regulation of transcription and G1 CDK activity. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2TBL8 | CDK10 | Cyclin-dependent kinase 10 | Bos taurus (Bovine) | PR |
| Q9UQ88 | CDK11A | Cyclin-dependent kinase 11A | Homo sapiens (Human) | PR |
| Q00526 | CDK3 | Cyclin-dependent kinase 3 | Homo sapiens (Human) | PR |
| Q96Q40 | CDK15 | Cyclin-dependent kinase 15 | Homo sapiens (Human) | PR |
| O94921 | CDK14 | Cyclin-dependent kinase 14 | Homo sapiens (Human) | PR |
| Q00537 | CDK17 | Cyclin-dependent kinase 17 | Homo sapiens (Human) | PR |
| P49336 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens (Human) | PR |
| Q9BWU1 | CDK19 | Cyclin-dependent kinase 19 | Homo sapiens (Human) | PR |
| P50750 | CDK9 | Cyclin-dependent kinase 9 | Homo sapiens (Human) | PR |
| Q5MAI5 | CDKL4 | Cyclin-dependent kinase-like 4 | Homo sapiens (Human) | PR |
| Q00532 | CDKL1 | Cyclin-dependent kinase-like 1 | Homo sapiens (Human) | PR |
| Q92772 | CDKL2 | Cyclin-dependent kinase-like 2 | Homo sapiens (Human) | PR |
| Q8IZL9 | CDK20 | Cyclin-dependent kinase 20 | Homo sapiens (Human) | PR |
| P21127 | CDK11B | Cyclin-dependent kinase 11B | Homo sapiens (Human) | PR |
| Q3UMM4 | Cdk10 | Cyclin-dependent kinase 10 | Mus musculus (Mouse) | PR |
| Q4KM47 | Cdk10 | Cyclin-dependent kinase 10 | Rattus norvegicus (Rat) | PR |
| Q09437 | cdk-11.1 | Cyclin-dependent kinase 11.1 | Caenorhabditis elegans | PR |
| Q9FGW5 | CDKG1 | Cyclin-dependent kinase G1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4I114 | At1g09600 | Probable serine/threonine-protein kinase At1g09600 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEPDLECEQ | IRLKCIRKEG | FFTVPPEHRL | GRCRSVKEFE | KLNRIGEGTY | GIVYRARDTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TDEIVALKKV | RMDKEKDGIP | ISSLREITLL | LRLRHPNIVE | LKEVVVGNHL | ESIFLVMGYC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EQDLASLLEN | MPTPFSEAQV | KCIVLQVLRG | LQYLHRNFII | HRDLKVSNLL | MTDKGCVKTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DFGLARAYGV | PVKPMTPKVV | TLWYRAPELL | LGTTTQTTSI | DMWAVGCILA | ELLAHRPLLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTSEIHQIDL | IVQLLGTPSE | NIWPGFSKLP | LVGQYSLRKQ | PYNNLKHKFP | WLSEAGLRLL |
| 310 | 320 | 330 | 340 | 350 | |
| HFLFMYDPKK | RATAGDCLES | SYFKEKPLPC | EPELMPTFPH | HRNKRAAPAT | SEGQSKRCKP |