Q9NQC7
PR
Gene name |
CYLD |
Protein name |
Ubiquitin carboxyl-terminal hydrolase CYLD |
Names |
Deubiquitinating enzyme CYLD, Ubiquitin thioesterase CYLD, Ubiquitin-specific-processing protease CYLD |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1540 |
EC number |
3.4.19.12: Omega peptidases |
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
544 variants for Q9NQC7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000370163 CA8052119 rs764097337 RCV002264928 RCV000404707 RCV000311859 |
20 | I>S | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000005576 rs1596971597 |
188 | Q>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158243 rs587778225 RCV000120626 RCV001117148 RCV001117149 RCV001117150 |
222 | T>K | Familial multiple trichoepitheliomata Variant assessed as Somatic; 0.0 impact. Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751380834 VAR_085113 CA8052227 |
229 | P>S | Variant assessed as Somatic; 0.0 impact. FTDALS8; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000257953 rs886040868 |
277 | D>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886040869 RCV000257981 |
305 | A>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886040870 RCV000257938 |
323 | S>missing | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000257964 rs886040871 |
330 | G>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10590069 rs886040872 RCV000760471 RCV000257976 COSM43402 RCV001814137 |
371 | S>* | Variant assessed as Somatic; 0.0 impact. Familial cylindromatosis skin Brooke-Spiegler syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000278230 rs200759332 CA8052355 RCV000352083 RCV000372761 |
389 | T>R | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000293720 RCV000388023 CA8052356 rs138976689 RCV000348615 |
391 | I>T | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs759998669 RCV001120733 RCV001120734 CA8052377 RCV001120735 |
424 | T>N | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA158249 RCV000309052 rs200494719 RCV000345237 RCV000120628 RCV000392635 |
431 | G>E | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA395874722 RCV001115807 RCV001120736 RCV001120737 rs1248488179 |
432 | S>R | Familial multiple trichoepitheliomata Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10590070 rs764952788 RCV000257934 COSM214343 |
443 | Q>* | Familial cylindromatosis skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000257960 rs886040873 CA10590071 |
455 | Q>* | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000005577 rs1597052041 |
465 | G>missing | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886040874 RCV000257987 |
513 | C>missing | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000257947 rs886040875 |
534 | V>missing | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886040876 RCV000257967 |
553 | N>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10590075 rs886040877 RCV000257995 |
562 | A>P | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10590077 rs886040879 RCV000257974 |
591 | K>* | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM558063 CA10590078 rs886040880 RCV000258002 |
593 | G>D | lung Familial cylindromatosis Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567451374 VAR_085114 CA395876574 |
615 | S>F | FTDALS8; unknown pathological significance [UniProt] | Yes |
ClinGen Ensembl UniProt |
|
rs1597073318 RCV000984131 |
681 | D>missing | Multiple myeloma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10590081 RCV000257999 rs886040883 |
681 | D>H | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10590082 RCV000257955 rs886040884 |
703 | R>K | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886040885 RCV000257982 |
714 | F>missing | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_085116 rs1971438573 RCV001281091 |
719 | M>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 FTDALS8; increased K63-deubiquitinase activity; increased inhibition of NF-kappa-B; no impact on interaction with TBK1, OPTN and SQSTM [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000005569 rs1597085967 |
747 | E>missing | Familial multiple trichoepitheliomata [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000005572 CA214926 RCV000005571 rs121908389 VAR_045967 |
747 | E>G | Familial multiple trichoepitheliomata Brooke-Spiegler syndrome MFT1 and BRSS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000005567 rs1597088499 RCV000005566 |
751 | C>missing | Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM21988 RCV000120624 CA158237 RCV002281697 rs121908388 RCV000005565 |
758 | R>* | Familial cylindromatosis Variant assessed as Somatic; impact. skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs886040887 RCV000257950 |
764 | K>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000257977 CA10590086 RCV002466483 rs886040888 |
767 | K>* | Familial cylindromatosis Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886040889 RCV000257935 CA10590087 |
781 | L>P | Brooke-Spiegler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000257985 rs886040891 |
796 | M>* | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886040892 RCV000257939 CA10590090 |
802 | C>* | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000980973 rs779374474 RCV002548450 CA8052620 |
806 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000302448 CA8052626 RCV000341045 rs775394735 RCV000405511 |
822 | T>I | Familial cylindromatosis Brooke-Spiegler syndrome Trichoepithelioma, multiple familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886040893 RCV000257968 |
839 | S>missing | Familial cylindromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000257992 rs886040894 CA10590092 |
857 | Q>* | Familial cylindromatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121908390 RCV000005575 RCV000005573 RCV002496269 RCV000005574 COSM43404 CA214928 |
936 | R>* | Familial multiple trichoepitheliomata large_intestine Familial cylindromatosis Variant assessed as Somatic; impact. skin Brooke-Spiegler syndrome [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
COSM971310 CA395879515 rs1394654032 |
2 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA395879536 rs1384162666 |
3 | S>T | No |
ClinGen TOPMed |
|
|
rs776388535 CA8052114 |
4 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395879559 rs776388535 |
4 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052115 rs759450167 |
6 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA281297372 rs995681598 |
8 | Q>E | No |
ClinGen Ensembl |
|
|
rs1314234739 CA395879628 |
11 | V>I | No |
ClinGen gnomAD |
|
|
rs1028451607 CA281297386 |
16 | W>L | No |
ClinGen Ensembl |
|
|
rs769578814 CA8052116 |
17 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374624194 CA8052118 |
19 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775325438 CA8052117 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273533480 CA395879777 |
22 | Y>H | No |
ClinGen gnomAD |
|
|
rs368114885 CA8052121 |
24 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315001448 COSM971311 CA395879807 |
25 | L>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8052122 rs767768148 |
29 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs912795080 CA281297427 |
30 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 31 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395879897 rs1169865761 |
32 | D>H | No |
ClinGen gnomAD |
|
|
CA8052125 rs565310513 |
33 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538206791 COSM3818069 CA281297459 |
34 | Q>E | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs755565463 CA8052127 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395879942 rs1373751343 |
36 | Q>K | No |
ClinGen gnomAD |
|
|
rs756702476 CA8052129 |
39 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770539079 CA8052130 COSM190553 |
42 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395880011 rs1333095666 |
42 | P>S | No |
ClinGen Ensembl |
|
|
rs1258272884 CA395880043 |
45 | S>G | No |
ClinGen gnomAD |
|
|
rs931057264 CA281297527 |
45 | S>N | No |
ClinGen TOPMed |
|
|
CA8052132 rs745498288 |
46 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA395880083 rs1048602687 |
48 | Q>H | No |
ClinGen TOPMed |
|
|
rs769485126 CA8052133 |
50 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196482079 CA395880134 |
53 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs375455772 CA8052134 |
53 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395880137 rs375455772 |
53 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749025501 CA395880141 |
54 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA8052135 rs749025501 |
54 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8052137 rs774243056 |
55 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1266844113 CA395880165 |
56 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767537235 CA8052139 |
57 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395880171 rs1195632163 |
57 | H>Y | No |
ClinGen gnomAD |
|
|
CA395880219 rs1406372997 |
61 | P>L | No |
ClinGen TOPMed |
|
|
rs773427979 CA8052140 |
65 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs773427979 CA395880250 |
65 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8052141 rs760892570 |
65 | G>V | No |
ClinGen ExAC |
|
|
rs1186691576 CA395880310 |
68 | N>K | No |
ClinGen gnomAD |
|
|
CA8052143 rs754294680 |
70 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369619557 CA8052142 |
70 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395880364 rs1567420639 |
72 | L>F | No |
ClinGen Ensembl |
|
|
CA395880393 rs1383362180 |
75 | L>I | No |
ClinGen gnomAD |
|
|
rs1278474345 CA395880397 |
75 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268520704 CA395880441 |
78 | P>L | No |
ClinGen TOPMed |
|
|
rs201666656 CA8052146 |
80 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA281297646 rs916449502 |
81 | V>F | No |
ClinGen gnomAD |
|
|
rs1322096867 CA395880477 |
81 | V>G | No |
ClinGen gnomAD |
|
|
rs376006417 CA8052147 |
82 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8052150 rs755856295 |
90 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8052149 rs745524548 |
90 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA281297672 rs536645303 |
91 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8052153 rs768418690 |
92 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8052152 rs749150160 |
92 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395880642 rs1315085691 |
93 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039301683 CA281297708 |
95 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774294556 CA8052154 |
100 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772152412 CA8052156 |
105 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA281297717 rs902065707 |
106 | C>R | No |
ClinGen TOPMed |
|
|
CA8052157 rs773336310 |
107 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1300952900 CA395880904 |
109 | R>K | No |
ClinGen TOPMed |
|
|
CA8052158 rs760665500 |
112 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1401440721 CA395880959 |
113 | F>C | No |
ClinGen TOPMed |
|
|
CA395880996 rs587778224 |
115 | N>I | No |
ClinGen gnomAD |
|
|
RCV000120625 rs587778224 CA158240 |
115 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 116 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395881020 rs1379681515 |
117 | N>S | No |
ClinGen gnomAD |
|
|
rs1395199164 CA395881064 |
119 | L>P | No |
ClinGen gnomAD |
|
|
rs1318594236 CA395881089 |
120 | S>R | No |
ClinGen gnomAD |
|
|
CA395881106 rs1240768220 |
122 | G>C | No |
ClinGen gnomAD |
|
|
rs1451100613 CA395881115 |
122 | G>D | No |
ClinGen gnomAD |
|
|
CA395881119 rs1286920859 |
123 | L>F | No |
ClinGen gnomAD |
|
|
CA8052160 rs776692170 |
124 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281297748 rs997651760 |
125 | I>M | No |
ClinGen TOPMed |
|
|
rs1402238737 CA395881190 |
127 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753265479 CA8052163 |
128 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758921558 CA8052164 |
129 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8052165 rs764687557 |
130 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052166 rs750019749 |
132 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs549332039 CA8052167 |
132 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395881298 rs1567421013 |
133 | V>L | No |
ClinGen Ensembl |
|
|
rs1379197300 CA395881361 |
136 | R>K | No |
ClinGen gnomAD |
|
|
CA395881372 rs1175162652 |
137 | S>C | No |
ClinGen gnomAD |
|
|
rs779807077 CA8052168 |
137 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447033461 CA395881430 |
140 | E>D | No |
ClinGen gnomAD |
|
|
CA8052169 rs748843520 |
140 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395881456 rs1567421065 |
142 | F>I | No |
ClinGen Ensembl |
|
|
CA395881490 rs754799573 |
143 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs754799573 CA8052170 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567421073 CA395881478 COSM3736760 |
143 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8052171 rs778620114 |
145 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM3387468 CA281297797 rs940350665 |
147 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs747924691 CA8052172 |
147 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1376286790 CA395881607 |
151 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395881698 rs1394965352 |
156 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395881759 COSM280251 rs1209659369 |
160 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs891941021 CA281297809 |
161 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1484765330 CA395881842 |
165 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381185303 CA395881859 |
166 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs373896011 CA281297818 |
167 | L>F | No |
ClinGen ESP |
|
| TCGA novel | 169 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201836260 CA8052201 |
172 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201836260 CA395882161 |
172 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395882164 rs1219465670 |
172 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs12599808 CA8052202 |
173 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281298725 rs965699210 |
173 | G>S | No |
ClinGen Ensembl |
|
|
rs1316416117 CA395882206 |
174 | Q>H | No |
ClinGen gnomAD |
|
|
CA395882330 CA8052204 rs753356127 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052205 rs370450747 |
180 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758217895 CA8052208 |
184 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs777360812 CA8052209 |
185 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 185 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395882464 rs777360812 |
185 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473642841 CA395882477 |
186 | L>F | No |
ClinGen gnomAD |
|
|
rs757203445 CA8052211 |
188 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 188 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052212 rs374118770 |
190 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395882690 rs1453900713 |
195 | V>A | No |
ClinGen TOPMed |
|
|
CA395882678 rs756244138 |
195 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052214 rs756244138 |
195 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338939056 CA395882893 |
203 | E>V | No |
ClinGen gnomAD |
|
|
CA395882917 rs1450587659 |
204 | L>P | No |
ClinGen gnomAD |
|
|
CA395883070 rs1227089057 |
210 | T>I | No |
ClinGen gnomAD |
|
|
rs1353759220 CA395883090 |
212 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs375434282 CA8052220 |
212 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395883145 rs1465269936 |
214 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395883153 rs1596971940 |
214 | S>N | No |
ClinGen Ensembl |
|
|
rs1288399057 CA395883170 |
215 | D>N | No |
ClinGen TOPMed |
|
|
rs773685620 CA8052222 |
217 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395883226 rs773685620 |
217 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1187911151 CA395883245 |
217 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395883300 rs1180400057 |
221 | D>N | No |
ClinGen gnomAD |
|
|
rs1267625789 CA395883315 |
222 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052223 rs764684461 |
223 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs372885659 CA8052224 |
224 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158310617 CA395883346 |
224 | Q>L | No |
ClinGen gnomAD |
|
|
rs763792744 CA8052226 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395883383 rs1340241566 |
227 | L>I | No |
ClinGen gnomAD |
|
|
rs1451140905 CA395883402 |
228 | P>L | No |
ClinGen gnomAD |
|
|
rs915435587 CA281298912 |
232 | I>V | No |
ClinGen TOPMed |
|
|
rs767406236 CA8052229 |
240 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8052230 rs750338263 |
242 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281298929 rs993015606 |
244 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780217156 CA8052232 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749535920 CA8052233 |
245 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA395883687 rs1171609296 |
251 | F>L | No |
ClinGen TOPMed |
|
|
rs948227800 CA281298969 |
254 | V>G | No |
ClinGen Ensembl |
|
|
CA281298970 rs867267998 |
256 | P>S | No |
ClinGen Ensembl |
|
|
rs537111724 CA281298973 |
265 | V>L | No |
ClinGen gnomAD |
|
|
CA395883876 rs1362118784 |
266 | G>S | No |
ClinGen gnomAD |
|
|
CA395884835 rs1345716748 |
270 | D>Y | No |
ClinGen TOPMed |
|
|
CA8052255 rs779025151 |
271 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA395884876 rs1250709324 |
272 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1479643041 CA395884885 |
273 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1479643041 CA395884887 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 276 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249521517 CA395885021 |
281 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 287 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052260 rs537829084 |
295 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395885319 rs1386809033 |
298 | H>R | No |
ClinGen gnomAD |
|
|
CA8052264 rs773907555 |
299 | I>V | No |
ClinGen ExAC |
|
|
rs377066412 CA8052265 |
300 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772008589 CA8052266 |
300 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 302 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317037135 CA395885404 |
303 | I>T | No |
ClinGen gnomAD |
|
|
rs746593321 CA8052305 |
308 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749948992 CA281262314 |
308 | E>K | No |
ClinGen Ensembl |
|
|
CA395872369 rs1223750872 |
309 | S>G | No |
ClinGen gnomAD |
|
|
CA395872378 rs1265748647 |
309 | S>I | No |
ClinGen gnomAD |
|
|
rs200271412 CA8052307 |
311 | T>M | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395872403 rs1180378073 |
313 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 315 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1609393 CA395872450 rs1490126057 |
319 | L>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA395872466 rs1408529561 |
322 | M>V | No |
ClinGen TOPMed |
|
|
CA8052312 rs764123017 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223206958 CA395872479 |
324 | R>G | No |
ClinGen gnomAD |
|
|
rs1261828777 CA395872488 |
325 | G>C | No |
ClinGen gnomAD |
|
|
rs1176254741 CA395872492 |
326 | V>I | No |
ClinGen TOPMed |
|
|
CA281263360 rs1029890241 |
327 | G>R | No |
ClinGen TOPMed |
|
|
CA8052313 rs372199798 |
328 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395872507 rs372199798 |
328 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761966039 CA8052314 |
329 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA158246 rs587778226 RCV000120627 |
330 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA281263370 rs587778226 |
330 | G>S | No |
ClinGen Ensembl |
|
|
CA395872526 rs1231850997 |
331 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8052316 rs750868595 |
336 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597042325 CA395872566 |
337 | P>S | No |
ClinGen Ensembl |
|
|
CA395872570 rs1425356320 |
338 | K>Q | No |
ClinGen gnomAD |
|
|
CA8052318 rs766929368 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8052329 rs749160760 |
344 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs768737991 CA8052330 |
345 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs774471814 CA8052331 |
347 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA395872698 rs1301499022 |
348 | N>I | No |
ClinGen gnomAD |
|
|
rs373172148 CA281264546 |
349 | R>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 353 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 358 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395872928 rs1371733388 |
360 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 361 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773256996 CA8052334 |
363 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA281264550 rs773617810 |
364 | D>V | No |
ClinGen Ensembl |
|
|
rs1168279358 CA395873056 |
367 | P>Q | No |
ClinGen TOPMed |
|
|
CA395873091 rs868433482 |
369 | S>C | No |
ClinGen gnomAD |
|
|
CA395873086 rs1358083479 |
369 | S>T | No |
ClinGen gnomAD |
|
|
CA281264580 rs868433482 |
369 | S>Y | No |
ClinGen gnomAD |
|
|
CA395873114 rs1192127257 |
371 | S>T | No |
ClinGen gnomAD |
|
|
rs1473773857 CA395873177 |
374 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182344095 CA395873180 |
375 | W>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770846066 CA281264582 |
375 | W>S | No |
ClinGen Ensembl |
|
|
rs1385990622 CA395873190 |
376 | Y>F | No |
ClinGen gnomAD |
|
|
CA395873208 rs1424042939 |
378 | D>E | No |
ClinGen gnomAD |
|
|
CA8052351 rs749069777 |
381 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052352 rs768648222 |
381 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395874290 rs1325890438 COSM325101 |
383 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA281266120 rs956627984 |
384 | P>L | No |
ClinGen Ensembl |
|
|
rs547729513 CA281266132 |
385 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052353 rs199606039 |
388 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052354 rs200759332 |
389 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395874377 rs1021976428 |
391 | I>L | No |
ClinGen gnomAD |
|
|
CA281266206 rs1021976428 |
391 | I>V | No |
ClinGen gnomAD |
|
|
rs541244019 CA281266209 |
393 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8052357 rs760750410 |
394 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM218498 CA8052359 rs149427272 |
397 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8052361 rs370428449 |
397 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8052360 rs149427272 |
397 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202120212 CA8052362 |
398 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1432619466 CA395874485 |
400 | P>A | No |
ClinGen TOPMed |
|
|
rs1391838223 CA395874494 |
401 | P>A | No |
ClinGen TOPMed |
|
|
CA395874510 rs1186711343 |
402 | L>H | No |
ClinGen TOPMed |
|
|
CA395874532 rs1567446473 |
404 | P>A | No |
ClinGen Ensembl |
|
|
rs543887233 CA281266305 |
406 | P>S | No |
ClinGen 1000Genomes |
|
|
CA395874561 rs1317911632 |
407 | V>M | No |
ClinGen gnomAD |
|
|
rs1262264575 CA395874574 |
408 | N>K | No |
ClinGen gnomAD |
|
|
CA395874571 rs1219532570 |
408 | N>S | No |
ClinGen gnomAD |
|
|
rs375579250 CA8052365 |
409 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779677424 CA395874582 |
410 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779677424 CA8052367 |
410 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395874586 rs1567446578 |
411 | T>S | No |
ClinGen Ensembl |
|
|
rs753674182 CA8052368 |
412 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778851022 CA8052370 |
414 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281266351 rs932325918 |
415 | R>I | No |
ClinGen TOPMed |
|
|
CA8052373 rs772206198 |
417 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747968461 CA8052371 |
417 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429021265 CA395874648 |
420 | P>L | No |
ClinGen gnomAD |
|
|
rs1396619944 CA395874662 |
422 | S>I | No |
ClinGen gnomAD |
|
|
rs771315536 CA8052375 |
423 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776967114 CA395874671 |
424 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052376 rs776967114 |
424 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395874675 rs1282444959 |
425 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770246549 CA8052378 |
426 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220419668 CA395874692 |
427 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 428 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776072876 CA8052379 |
430 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8052381 rs772664801 |
432 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1312178814 CA395874728 |
432 | S>R | No |
ClinGen TOPMed |
|
|
rs760202447 CA8052382 |
433 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8052383 rs766070779 |
435 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281266460 rs1019560125 |
439 | S>Y | No |
ClinGen TOPMed |
|
|
CA8052384 rs753441546 |
441 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1408946510 CA395874780 |
441 | S>L | No |
ClinGen TOPMed |
|
|
CA8052386 rs764952788 |
443 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052387 rs371683706 |
444 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395874832 rs1256251501 |
449 | L>V | No |
ClinGen TOPMed |
|
|
rs901297113 CA281266508 |
451 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395874856 rs777730921 |
453 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8052389 rs777730921 |
453 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8052391 rs200451975 |
454 | V>I | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA395874876 rs1567446905 |
456 | E>G | No |
ClinGen Ensembl |
|
|
rs746024152 CA8052393 |
457 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249728850 CA395874910 |
461 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395874912 rs1361649220 |
462 | M>L | No |
ClinGen gnomAD |
|
|
rs1483332304 CA395874930 |
464 | P>H | No |
ClinGen Ensembl |
|
|
rs770299815 CA8052394 |
465 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395874954 rs1158403846 |
468 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA281266577 rs749660371 |
469 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052395 rs775779502 |
469 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8052396 rs749660371 |
469 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 476 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971330819 CA281266609 |
478 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8052397 rs769084591 |
479 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774901213 CA8052398 |
482 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395875159 rs1298464812 |
485 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162538506 CA395875210 |
489 | R>C | No |
ClinGen gnomAD |
|
|
CA395875212 rs1363261645 |
489 | R>H | No |
ClinGen gnomAD |
|
|
CA395875269 rs1383933346 |
493 | Q>H | No |
ClinGen gnomAD |
|
|
COSM3667925 rs1325088578 CA395875257 |
493 | Q>K | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA395875265 rs1289303206 |
493 | Q>R | No |
ClinGen gnomAD |
|
|
CA8052403 rs764864969 |
495 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385126584 CA395875362 |
501 | L>F | No |
ClinGen gnomAD |
|
|
CA395875367 rs1162188229 |
502 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 507 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052426 rs763885572 |
508 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395875437 rs1205424380 |
510 | C>Y | No |
ClinGen TOPMed |
|
|
CA8052428 COSM3402351 rs761903963 |
514 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1174118206 CA395875467 |
515 | D>N | No |
ClinGen gnomAD |
|
|
CA8052430 rs201523761 |
517 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 519 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980299070 CA281267775 |
521 | T>A | No |
ClinGen TOPMed |
|
|
CA281267786 rs928783559 |
521 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1261903918 CA395875512 |
522 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395875532 rs1298972089 |
525 | T>P | No |
ClinGen gnomAD |
|
|
rs756244276 CA395875584 |
529 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324694071 CA395875701 |
538 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 539 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281267804 rs778808923 |
541 | P>T | No |
ClinGen Ensembl |
|
|
rs779388734 CA8052435 |
550 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395875872 rs779388734 |
550 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395875875 rs1279948701 |
551 | V>I | No |
ClinGen TOPMed |
|
|
CA281267847 rs917715690 |
553 | N>D | No |
ClinGen gnomAD |
|
|
CA281267854 rs938804060 |
554 | Q>H | No |
ClinGen TOPMed |
|
|
COSM971319 CA8052437 rs772603046 |
557 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 559 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597055529 RCV001008133 |
561 | L>missing | No |
ClinVar dbSNP |
|
|
CA395875999 rs1490128383 |
565 | G>S | No |
ClinGen gnomAD |
|
|
CA8052449 rs767615668 |
573 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1475721629 CA395876067 |
574 | N>S | No |
ClinGen gnomAD |
|
|
CA395876076 rs1185841436 |
575 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 577 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 579 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281268804 rs529141143 |
581 | K>E | No |
ClinGen Ensembl |
|
|
CA395876121 rs1447693715 |
582 | E>K | No |
ClinGen gnomAD |
|
|
CA395876133 rs1412420553 |
583 | G>A | No |
ClinGen TOPMed |
|
|
rs760703224 CA8052451 |
585 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766418129 CA8052452 |
587 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs753846644 CA8052453 |
588 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347296632 CA395876178 |
590 | K>E | No |
ClinGen gnomAD |
|
|
CA395876183 rs1172966342 |
590 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281268855 rs868852255 |
600 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 609 | C>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 609 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758765051 CA8052477 |
610 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 613 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395876566 rs1280892053 |
614 | S>I | No |
ClinGen gnomAD |
|
|
CA395876595 rs1351141902 |
619 | T>A | No |
ClinGen gnomAD |
|
|
CA395876695 rs1222939528 |
627 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs974881862 CA281270638 |
628 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764382473 CA8052478 |
628 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395876721 rs1467188617 |
629 | D>N | No |
ClinGen TOPMed |
|
|
CA395876753 rs1340663967 |
631 | E>* | No |
ClinGen gnomAD |
|
|
rs1597065665 CA395876758 |
631 | E>G | No |
ClinGen Ensembl |
|
|
CA8052481 rs781521240 |
635 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 638 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754401587 CA8052483 |
639 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs747739683 CA8052485 |
644 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs587778223 RCV000120623 CA158234 |
645 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA395876986 rs1404766168 |
648 | L>R | No |
ClinGen gnomAD |
|
|
CA8052486 rs773205473 |
650 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395876998 rs773205473 |
650 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405265573 CA395877174 |
651 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 656 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 658 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052504 rs777264946 |
666 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395877286 rs1265347564 |
667 | E>G | No |
ClinGen TOPMed |
|
|
rs1475008139 CA395877330 |
674 | G>R | No |
ClinGen gnomAD |
|
| VAR_085115 | 681 | D>G | abolished K63-deubiquitinase activity; decreased inhibition of NF-kappa-B; no impact on interaction with TBK1, OPTN and SQSTM [UniProt] | No | UniProt |
| TCGA novel | 689 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395877483 rs1390264580 |
692 | H>D | No |
ClinGen TOPMed |
|
|
CA395877541 rs1159653979 |
696 | V>A | No |
ClinGen gnomAD |
|
|
rs1449388332 CA395877567 |
698 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs964054055 CA395877563 |
698 | P>S | No |
ClinGen gnomAD |
|
|
CA281273421 rs964054055 |
698 | P>T | No |
ClinGen gnomAD |
|
|
rs1285570918 CA395878804 |
704 | S>L | No |
ClinGen gnomAD |
|
|
rs1346771216 CA395878813 |
706 | G>C | No |
ClinGen gnomAD |
|
|
rs1298625546 CA395878847 |
711 | D>N | No |
ClinGen gnomAD |
|
|
rs1298625546 CA395878849 |
711 | D>Y | No |
ClinGen gnomAD |
|
|
rs755910848 CA8052563 |
717 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 720 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454033249 CA395878939 |
722 | N>S | No |
ClinGen gnomAD |
|
|
rs1597085779 CA395878943 |
723 | E>Q | No |
ClinGen Ensembl |
|
|
CA281276507 rs373971257 |
724 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8052565 rs762650238 COSM971326 |
727 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA281276570 rs953501982 |
730 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs986643816 CA281276581 |
740 | N>K | No |
ClinGen Ensembl |
|
|
rs1413237839 CA395879064 |
740 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 741 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395879106 rs1389848555 |
746 | A>S | No |
ClinGen gnomAD |
|
|
rs759323944 CA8052588 |
748 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1198176217 CA395879147 |
751 | C>G | No |
ClinGen TOPMed |
|
|
CA395879196 rs1315227790 |
758 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1567458272 CA395879224 |
762 | D>Y | No |
ClinGen Ensembl |
|
|
CA395879293 rs1355390482 |
767 | K>R | No |
ClinGen gnomAD |
|
|
CA395879317 rs1489875475 |
769 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1286084448 CA395879382 |
774 | E>A | No |
ClinGen gnomAD |
|
|
CA395879433 rs1217212834 |
778 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 780 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395879516 rs1247521401 |
783 | D>E | No |
ClinGen gnomAD |
|
|
rs1208010795 CA395879505 |
783 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1205715189 CA395879646 |
785 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395879706 rs1442107594 |
789 | R>Q | No |
ClinGen gnomAD |
|
|
rs1165672681 CA395879703 |
789 | R>W | No |
ClinGen TOPMed |
|
|
CA395879753 rs1406187548 |
792 | G>V | No |
ClinGen gnomAD |
|
|
CA395879763 rs1460880286 |
793 | G>E | No |
ClinGen TOPMed |
|
|
CA8052611 rs764090530 |
796 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763013177 CA8052610 |
796 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs374104988 CA8052609 |
796 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8052612 rs199624138 |
797 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757365206 CA8052613 |
800 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 801 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052615 rs750592962 |
801 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281278156 rs756631851 |
801 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281278178 rs780529514 |
804 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs780529514 CA8052617 |
804 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8052619 rs568978023 |
805 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1344347941 CA395879989 |
808 | I>V | No |
ClinGen gnomAD |
|
|
CA395880031 rs1335385061 |
810 | A>G | No |
ClinGen gnomAD |
|
|
CA8052623 rs371330250 |
812 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311245964 CA395880074 |
813 | I>V | No |
ClinGen TOPMed |
|
|
CA8052625 rs769325996 |
820 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 820 | C>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567459320 CA395880239 |
821 | N>S | No |
ClinGen Ensembl |
|
|
CA395880260 rs775394735 |
822 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 825 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052649 rs562111372 |
826 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8052650 rs773384548 |
827 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395880623 rs773384548 |
827 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528100675 CA8052651 |
828 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs940896803 CA281278899 |
830 | R>K | No |
ClinGen TOPMed |
|
|
CA395880716 rs1211104702 |
831 | L>R | No |
ClinGen gnomAD |
|
|
rs766649471 CA8052652 |
831 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8052653 rs753990020 |
832 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA395880743 rs1396231156 |
832 | N>S | No |
ClinGen gnomAD |
|
|
rs755344614 CA8052654 |
835 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8052656 rs753052577 |
836 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs758942834 CA8052657 |
838 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA395881074 rs1159766253 |
842 | K>E | No |
ClinGen gnomAD |
|
|
rs1389475135 CA395881105 |
842 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 844 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052661 rs755537769 |
845 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052660 rs755537769 |
845 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8052662 rs376293566 |
846 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1165904 rs1285455482 CA395881338 |
852 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395881419 rs1230776078 |
855 | P>S | No |
ClinGen gnomAD |
|
|
COSM703514 rs772100161 CA8052666 |
864 | V>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8052667 rs772100161 |
864 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200765362 CA8052672 |
866 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs776677068 CA8052671 |
866 | C>S | No |
ClinGen ExAC |
|
|
rs770854690 CA8052669 |
866 | C>S | No |
ClinGen ExAC |
|
|
rs776677068 CA8052670 |
866 | C>Y | No |
ClinGen ExAC |
|
|
CA8052674 rs763179319 |
867 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA8052673 rs753107750 |
867 | I>L | No |
ClinGen ExAC |
|
|
rs751945594 CA8052676 |
867 | I>M | No |
ClinGen ExAC |
|
|
rs763179319 CA8052675 |
867 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA8052677 rs755663294 |
868 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8052678 rs200154154 COSM4129104 |
869 | T>K | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA395881947 rs754721077 |
871 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395881987 rs1205146628 |
872 | Y>C | No |
ClinGen gnomAD |
|
|
rs747983382 CA8052682 |
875 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1039611515 CA281279024 |
878 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 879 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395882248 rs1400529240 |
882 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8052685 rs767180517 |
882 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197963663 CA395882297 |
884 | A>V | No |
ClinGen TOPMed |
|
|
rs1597094057 CA395882607 |
894 | R>W | No |
ClinGen Ensembl |
|
|
rs1184005401 CA395885552 |
901 | F>V | No |
ClinGen gnomAD |
|
|
CA8052716 rs773819238 |
903 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388871422 CA395885703 |
911 | E>G | No |
ClinGen TOPMed |
|
|
CA8052719 rs752242818 |
926 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763776604 CA8052721 |
930 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 934 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052722 rs121908390 |
936 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 936 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052724 rs781112484 |
939 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 942 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8052725 rs745746917 |
946 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 948 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756031443 CA8052726 CA8052727 |
948 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs768810951 CA8052729 |
951 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA395886397 rs1238447051 |
952 | M>L | No |
ClinGen gnomAD |
4 associated diseases with Q9NQC7
[MIM: 132700]: Cylindromatosis, familial (FCYL)
A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. {ECO:0000269|PubMed:12190880, ECO:0000269|PubMed:16922728}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601606]: Multiple familial trichoepithelioma 1 (MFT1)
Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. {ECO:0000269|PubMed:14632188, ECO:0000269|PubMed:16307661, ECO:0000269|PubMed:16922728}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 605041]: Brooke-Spiegler syndrome (BRSS)
An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. {ECO:0000269|PubMed:12190880, ECO:0000269|PubMed:12950348, ECO:0000269|PubMed:14632188, ECO:0000269|PubMed:15854031}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619132]: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (FTDALS8)
A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal dominant form. {ECO:0000269|PubMed:23338750, ECO:0000269|PubMed:32185393, ECO:0000269|PubMed:32666117}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. {ECO:0000269|PubMed:12190880, ECO:0000269|PubMed:16922728}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. {ECO:0000269|PubMed:14632188, ECO:0000269|PubMed:16307661, ECO:0000269|PubMed:16922728}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. {ECO:0000269|PubMed:12190880, ECO:0000269|PubMed:12950348, ECO:0000269|PubMed:14632188, ECO:0000269|PubMed:15854031}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal dominant form. {ECO:0000269|PubMed:23338750, ECO:0000269|PubMed:32185393, ECO:0000269|PubMed:32666117}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q9NQC7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CAP Gly-rich domain | 127 - 203 | IPR000938-1 |
| domain | CAP Gly-rich domain | 232 - 303 | IPR000938-2 |
| domain | CAP Gly-rich domain | 472 - 540 | IPR000938-3 |
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 593 - 889 | IPR001394 |
| conserved_site | Ubiquitin specific protease, conserved site | 593 - 608 | IPR018200 |
| domain | Ubiquitin specific protease domain | 592 - 950 | IPR028889 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| ciliary tip | Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| Lys63-specific deubiquitinase activity | Hydrolysis of Lys63-Linked ubiquitin unit(s) from a ubiquitinated protein. |
| proline-rich region binding | Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| zinc ion binding | Binding to a zinc ion (Zn). |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| necroptotic process | A programmed necrotic cell death process which begins when a cell receives a signal (e.g. a ligand binding to a death receptor or to a Toll-like receptor), and proceeds through a series of biochemical events (signaling pathways), characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death. The process ends when the cell has died. The process is divided into a signaling phase, and an execution phase, which is triggered by the former. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of interleukin-18-mediated signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of interleukin-18-mediated signaling pathway. |
| negative regulation of JNK cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of NIK/NF-kappaB signaling | Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling. |
| negative regulation of p38MAPK cascade | Any process that stops, prevents or reduces the frequency, rate or extent of p38MAPK cascade. |
| negative regulation of type I interferon production | Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| nucleotide-binding oligomerization domain containing signaling pathway | The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing (NOD) protein receptor, and ending with regulation of a downstream cellular process. |
| positive regulation of extrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| protein linear deubiquitination | A protein deubiquitination process in which a linear polymer of ubiquitin, formed by the amino-terminal methionine (M1) of one ubiquitin molecule and by the carboxy-terminal glycine (G76) of the next, is removed from a protein. |
| regulation of cilium assembly | Any process that modulates the frequency, rate or extent of cilium assembly. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of intrinsic apoptotic signaling pathway | Any process that modulates the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of necroptotic process | Any process that modulates the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
| regulation of tumor necrosis factor-mediated signaling pathway | Any process that modulates the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61247 | RPS3A | 40S ribosomal protein S3a | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSGLWSQEK | VTSPYWEERI | FYLLLQECSV | TDKQTQKLLK | VPKGSIGQYI | QDRSVGHSRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSAKGKKNQI | GLKILEQPHA | VLFVDEKDVV | EINEKFTELL | LAITNCEERF | SLFKNRNRLS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGLQIDVGCP | VKVQLRSGEE | KFPGVVRFRG | PLLAERTVSG | IFFGVELLEE | GRGQGFTDGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YQGKQLFQCD | EDCGVFVALD | KLELIEDDDT | ALESDYAGPG | DTMQVELPPL | EINSRVSLKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GETIESGTVI | FCDVLPGKES | LGYFVGVDMD | NPIGNWDGRF | DGVQLCSFAC | VESTILLHIN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DIIPALSESV | TQERRPPKLA | FMSRGVGDKG | SSSHNKPKAT | GSTSDPGNRN | RSELFYTLNG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSVDSQPQSK | SKNTWYIDEV | AEDPAKSLTE | ISTDFDRSSP | PLQPPPVNSL | TTENRFHSLP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSLTKMPNTN | GSIGHSPLSL | SAQSVMEELN | TAPVQESPPL | AMPPGNSHGL | EVGSLAEVKE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NPPFYGVIRW | IGQPPGLNEV | LAGLELEDEC | AGCTDGTFRG | TRYFTCALKK | ALFVKLKSCR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PDSRFASLQP | VSNQIERCNS | LAFGGYLSEV | VEENTPPKME | KEGLEIMIGK | KKGIQGHYNS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CYLDSTLFCL | FAFSSVLDTV | LLRPKEKNDV | EYYSETQELL | RTEIVNPLRI | YGYVCATKIM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLRKILEKVE | AASGFTSEEK | DPEEFLNILF | HHILRVEPLL | KIRSAGQKVQ | DCYFYQIFME |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KNEKVGVPTI | QQLLEWSFIN | SNLKFAEAPS | CLIIQMPRFG | KDFKLFKKIF | PSLELNITDL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LEDTPRQCRI | CGGLAMYECR | ECYDDPDISA | GKIKQFCKTC | NTQVHLHPKR | LNHKYNPVSL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PKDLPDWDWR | HGCIPCQNME | LFAVLCIETS | HYVAFVKYGK | DDSAWLFFDS | MADRDGGQNG |
| 910 | 920 | 930 | 940 | 950 | |
| FNIPQVTPCP | EVGEYLKMSL | EDLHSLDSRR | IQGCARRLLC | DAYMCMYQSP | TMSLYK |