Q9BUR4
PR
Gene name |
WRAP53 |
Protein name |
Telomerase Cajal body protein 1 |
Names |
WD repeat-containing protein 79, WD40 repeat-containing protein antisense to TP53 gene, WRAP53beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55135 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
493 variants for Q9BUR4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000778521 RCV001856160 rs764437508 |
7 | Q>missing | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000297658 VAR_026865 CA8354878 rs17880282 RCV000324830 RCV002323530 RCV000507427 RCV000957539 RCV001127388 |
11 | P>S | Dyskeratosis Congenita, Recessive Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA397855966 RCV001127389 rs1162035408 |
36 | A>T | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001352316 rs145760222 RCV001820979 RCV000379376 CA8354903 |
63 | V>M | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989732 rs2287499 CA8354906 VAR_026866 RCV002418084 RCV000354405 RCV000253368 RCV001516489 |
68 | R>G | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201340741 RCV002374554 CA8354949 RCV001363759 RCV000768138 |
132 | T>N | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000373750 rs34067256 RCV000245377 RCV001123317 VAR_057618 CA8354951 RCV000261887 RCV000891035 |
136 | P>R | Dyskeratosis Congenita, Recessive Dyskeratosis congenita, autosomal recessive 3 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_065873 rs281865547 CA344267 RCV000439983 RCV000034152 |
164 | F>L | Dyskeratosis congenita, autosomal recessive 3 DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000768139 CA8355016 rs776832907 |
184 | I>L | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA287473380 RCV001319751 rs375280065 RCV001124413 |
287 | P>L | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8355243 rs758704444 RCV000264649 RCV002524445 |
326 | G>S | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000426413 RCV000767151 CA8355254 rs149359927 RCV002418337 |
359 | P>S | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000791190 rs1597422298 |
373 | L>missing | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065874 CA342771 RCV000023967 rs281865549 |
376 | H>Y | Dyskeratosis congenita, autosomal recessive 3 DKCB3; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001269522 RCV000023966 CA342768 VAR_065875 rs281865548 |
398 | R>W | Dyskeratosis congenita, autosomal recessive 3 DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA8355303 RCV002556717 RCV001125415 rs762178428 COSM707849 |
423 | P>L | lung Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita, autosomal recessive 3 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_065876 CA344264 rs281865550 RCV000034151 |
435 | G>R | Dyskeratosis congenita, autosomal recessive 3 DKCB3; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs763828661 RCV001267738 RCV003120507 CA8355368 |
481 | G>S | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8355369 rs199522817 RCV002523029 RCV002524446 RCV000354894 |
483 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002480692 rs768089496 RCV001210125 CA8355385 |
508 | V>I | Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita, autosomal recessive 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs144549494 RCV001309979 CA8355388 RCV001127517 |
513 | R>G | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267739 CA397858347 rs967111874 RCV001879774 |
521 | G>W | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002400262 rs755116516 RCV000490484 RCV002053129 RCV001005032 RCV001045892 RCV001853393 RCV003151271 |
522 | A>missing | Hereditary cancer-predisposing syndrome Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_026867 rs7640 RCV000262444 CA8355410 RCV001516491 RCV002401960 RCV000243801 |
522 | A>G | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2074304991 RCV001127519 |
543 | G>S | Dyskeratosis congenita, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001819412 rs867179605 RCV001869692 |
1 | M>V | No |
ClinVar dbSNP |
|
|
CA8354874 rs752687945 |
5 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA397854766 rs1045842881 |
7 | Q>H | No |
ClinGen TOPMed |
|
|
rs140694361 CA8354879 |
11 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8354880 rs779431250 |
12 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA397855095 rs1244279335 |
15 | P>L | No |
ClinGen gnomAD |
|
|
CA8354881 rs150282629 |
16 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397855142 rs1358493187 |
17 | D>N | No |
ClinGen gnomAD |
|
|
CA397855226 rs1267664694 |
18 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs772549847 CA8354882 |
18 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1463466382 CA397855259 |
19 | D>Y | No |
ClinGen gnomAD |
|
|
rs1210571334 CA397855433 |
22 | P>S | No |
ClinGen gnomAD |
|
|
CA397855529 rs775043934 |
24 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775043934 CA8354884 |
24 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760086957 CA397855573 |
25 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8354885 rs760086957 |
25 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768364856 CA8354886 |
26 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750219808 CA8354890 |
29 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8354889 rs765073967 |
29 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358040970 CA397855970 |
36 | A>E | No |
ClinGen gnomAD |
|
|
rs1358040970 CA397855972 |
36 | A>V | No |
ClinGen gnomAD |
|
|
CA397856057 rs1395826004 |
39 | E>K | No |
ClinGen gnomAD |
|
|
RCV001321356 CA287494879 rs1034121350 |
41 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1449086769 CA397856419 |
45 | P>L | No |
ClinGen gnomAD |
|
|
CA8354892 rs139002536 |
45 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327193044 CA397856437 |
46 | E>K | No |
ClinGen gnomAD |
|
|
rs1215102009 CA397856541 |
48 | G>A | No |
ClinGen Ensembl |
|
|
rs753969788 CA8354896 |
49 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1597403299 CA397856645 |
50 | P>L | No |
ClinGen Ensembl |
|
|
CA8354898 rs779303064 |
51 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258056859 CA397856678 |
51 | P>S | No |
ClinGen gnomAD |
|
|
rs376125064 CA8354899 |
52 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762717799 CA287494898 |
53 | L>F | No |
ClinGen TOPMed |
|
|
CA287494900 rs868524511 |
57 | P>S | No |
ClinGen Ensembl |
|
|
CA397856934 rs1248929393 |
58 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA287494906 rs111897235 |
59 | A>T | No |
ClinGen Ensembl |
|
|
CA397856990 rs1473287374 |
59 | A>V | No |
ClinGen gnomAD |
|
|
rs1228971083 CA397857016 |
60 | G>V | No |
ClinGen TOPMed |
|
|
rs1364870783 CA397857046 |
61 | S>A | No |
ClinGen gnomAD |
|
|
rs746530698 CA8354902 |
62 | A>D | No |
ClinGen ExAC |
|
|
CA397857063 rs1378529086 |
62 | A>P | No |
ClinGen TOPMed |
|
|
CA397857101 rs1171157288 |
63 | V>G | No |
ClinGen gnomAD |
|
|
CA8354904 rs776366967 |
65 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA287494927 rs899021678 |
65 | Q>P | No |
ClinGen TOPMed |
|
|
rs899021678 CA397857143 |
65 | Q>R | No |
ClinGen TOPMed |
|
|
rs773199225 CA8354907 |
68 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs2287499 CA397857229 |
68 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8354909 rs766422100 |
69 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976099760 CA287494943 |
70 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA287494946 rs1026522487 |
71 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345486472 CA397857358 |
72 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 73 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764037927 CA8354912 |
73 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM984994 CA287494950 rs369386615 |
74 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA397857402 rs1286670100 |
75 | L>F | No |
ClinGen gnomAD |
|
|
rs753919854 CA8354913 |
75 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs757516049 CA8354914 |
76 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757516049 CA287494951 |
76 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765444563 CA8354915 |
77 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8354917 rs758707736 |
78 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750794543 CA8354916 |
78 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397857531 rs1482243521 |
80 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1431903108 CA397857693 |
84 | G>A | No |
ClinGen gnomAD |
|
|
CA8354919 rs747435394 |
84 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA397857679 rs747435394 |
84 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs141850830 CA8354920 |
86 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780617002 CA8354921 |
87 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287779338 CA397857848 |
89 | L>F | No |
ClinGen TOPMed |
|
|
CA397857830 rs372152816 |
89 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769637437 CA8354923 |
92 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8354924 rs554392556 |
94 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749106865 CA8354925 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 97 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759428765 CA8354928 |
102 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8354929 CA287494981 rs767462997 |
103 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397858371 rs1487238438 |
104 | L>F | No |
ClinGen gnomAD |
|
|
CA397858431 rs1295280145 |
107 | E>A | No |
ClinGen TOPMed |
|
|
rs144238223 CA8354931 |
108 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8354932 rs765462600 |
108 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs144238223 CA287494985 |
108 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1348830744 CA397858507 |
109 | A>E | No |
ClinGen TOPMed |
|
|
rs750598622 CA8354933 |
109 | A>S | No |
ClinGen ExAC |
|
|
rs766695794 CA8354935 |
112 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1162205194 CA397858640 |
112 | S>R | No |
ClinGen TOPMed |
|
|
rs942160394 CA287495002 |
113 | L>P | No |
ClinGen Ensembl |
|
|
CA8354936 rs751932334 |
113 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8354937 rs148728256 |
117 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773992093 CA287495005 |
117 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA287495014 rs1043993272 |
118 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781719919 CA8354938 |
118 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781719919 CA8354939 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043993272 CA397858952 |
118 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001350597 CA8354940 rs755625682 |
120 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1417767625 CA397859031 |
120 | G>V | No |
ClinGen TOPMed |
|
|
rs777588420 CA8354942 |
121 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8354943 rs777588420 |
121 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318273946 CA397859093 |
122 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214755830 CA397859203 |
125 | S>P | No |
ClinGen gnomAD |
|
|
CA287495031 rs904934289 |
127 | K>R | No |
ClinGen TOPMed |
|
|
rs745658108 CA8354946 |
129 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8354945 rs774058987 |
129 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs771911772 CA8354947 |
130 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8354948 rs775352941 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8354950 rs201340741 |
132 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8354952 rs763211473 |
137 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766610610 CA8354953 |
139 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397859915 rs1303096608 |
140 | D>N | No |
ClinGen TOPMed |
|
|
rs1387092550 CA397860039 |
142 | G>R | No |
ClinGen TOPMed |
|
|
rs753206220 CA8354958 |
143 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1366844171 CA397860078 |
143 | D>G | No |
ClinGen TOPMed |
|
|
rs767921886 CA8354957 |
143 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1156897458 CA397860089 |
144 | T>I | No |
ClinGen gnomAD |
|
|
rs147226406 CA287495109 |
145 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8354976 rs147226406 |
145 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147226406 CA8354975 |
145 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8354977 rs140594263 |
145 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397860286 rs764681311 |
148 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764681311 CA8354978 |
148 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369563538 CA287495116 |
149 | S>C | No |
ClinGen ESP TOPMed |
|
|
CA8354979 rs753461311 |
149 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8354980 rs753461311 |
149 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8354982 rs750056345 |
151 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs571153185 CA287495126 |
153 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397860574 rs1213207387 |
155 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1213207387 CA397860572 |
155 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1281325154 CA397860581 |
155 | R>L | No |
ClinGen gnomAD |
|
|
rs1281325154 CA397860580 |
155 | R>P | No |
ClinGen gnomAD |
|
|
CA397860577 rs1281325154 |
155 | R>Q | No |
ClinGen gnomAD |
|
|
CA397860623 rs1597404533 |
156 | F>L | No |
ClinGen Ensembl |
|
|
rs779875361 CA8354984 |
156 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746794861 CA8354985 |
157 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1470442329 CA397860665 |
158 | S>G | No |
ClinGen gnomAD |
|
|
CA8354987 rs781041136 |
160 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1257126093 CA397860722 |
160 | S>P | No |
ClinGen TOPMed |
|
|
CA397860742 rs1434696612 |
161 | W>* | No |
ClinGen gnomAD |
|
|
CA397860839 rs1485252109 |
162 | S>P | No |
ClinGen TOPMed |
|
|
CA397860875 rs1174089272 |
163 | E>Q | No |
ClinGen gnomAD |
|
|
rs1443516115 CA397861103 |
166 | T>I | No |
ClinGen gnomAD |
|
|
CA8354990 rs770992500 |
166 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA397861137 rs1597404668 |
167 | Q>R | No |
ClinGen Ensembl |
|
|
CA8354991 rs774466254 |
168 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397861145 rs774466254 |
168 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567571420 CA397861234 |
169 | E>D | No |
ClinGen Ensembl |
|
|
rs1365861429 CA397861264 |
171 | F>L | No |
ClinGen gnomAD |
|
|
CA287495147 rs937718476 |
173 | K>R | No |
ClinGen TOPMed |
|
|
CA397861437 rs1236942884 |
174 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397861960 rs1192928863 |
179 | P>A | No |
ClinGen TOPMed |
|
|
CA8355013 rs775784125 |
180 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1463383810 CA397862066 |
181 | G>R | No |
ClinGen gnomAD |
|
|
rs1463383810 CA397862059 |
181 | G>S | No |
ClinGen gnomAD |
|
|
rs769107489 CA8355015 |
182 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765650726 CA8355018 |
184 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs776832907 CA8355017 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_057619 CA8355020 rs35762939 |
187 | N>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8355021 rs766034158 |
194 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766034158 CA397862571 |
194 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751163017 CA8355022 |
195 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA397862808 rs1367493551 |
199 | P>L | No |
ClinGen TOPMed |
|
|
rs1193944991 CA397862774 |
199 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8355024 rs767383199 |
200 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430044991 CA397862972 |
203 | Y>H | No |
ClinGen TOPMed |
|
|
rs777564749 CA8355027 |
204 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8355029 rs750517279 CA287495277 |
205 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397863096 rs1327067364 |
206 | G>A | No |
ClinGen gnomAD |
|
|
rs139095498 CA287495280 |
206 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA397863177 rs1375824429 |
208 | Q>E | No |
ClinGen TOPMed |
|
|
rs747278428 CA397863209 |
208 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1441463202 CA397863256 |
209 | V>G | No |
ClinGen gnomAD |
|
|
CA8355054 rs749833877 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA397844656 rs1340687186 |
217 | V>I | No |
ClinGen gnomAD |
|
|
rs771403969 CA8355055 |
218 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355056 rs773908331 |
219 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8355057 rs759039161 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774944601 CA8355059 |
220 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs371865260 CA8355058 |
220 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753668696 CA8355062 |
223 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753668696 CA8355063 |
223 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355061 rs763839659 |
223 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8355064 rs765264100 |
224 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754956678 CA8355066 |
226 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767803897 CA8355067 |
227 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs566624166 CA287472608 |
228 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566624166 CA8355069 |
228 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778159976 CA8355071 |
234 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749638410 CA8355072 |
236 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA397845128 rs1463578231 |
236 | S>P | No |
ClinGen gnomAD |
|
|
CA8355074 rs779323513 |
239 | Q>L | No |
ClinGen ExAC |
|
|
rs1327608159 CA397845282 |
241 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8355077 rs775038177 |
242 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746693191 CA8355078 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1171980890 CA397845373 |
243 | S>F | No |
ClinGen TOPMed |
|
|
rs1477015952 CA397847521 |
244 | Y>C | No |
ClinGen TOPMed |
|
|
rs144944332 CA8355109 |
245 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144944332 CA8355108 |
245 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149039922 CA287473065 |
247 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149039922 CA8355110 |
247 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758898596 CA8355111 |
247 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs780547823 CA8355112 |
250 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780547823 CA397847807 |
250 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305253836 CA397847804 |
250 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8355113 rs751045511 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA397847830 rs1255617679 |
251 | E>G | No |
ClinGen gnomAD |
|
|
rs1213076873 CA397847855 |
252 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375474753 CA8355116 |
255 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397847909 rs1342717311 |
255 | H>Y | No |
ClinGen TOPMed |
|
|
CA397847944 rs1409807134 RCV001352332 |
256 | I>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs548123219 CA8355118 |
256 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001308585 CA8355117 rs548123219 |
256 | I>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1395850839 CA397847980 |
258 | D>N | No |
ClinGen TOPMed |
|
|
CA397847991 rs1203328665 |
258 | D>V | No |
ClinGen Ensembl |
|
|
rs566444649 CA8355121 |
259 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566444649 CA8355122 |
259 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8355120 rs566444649 |
259 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372757806 CA8355126 |
261 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372757806 CA8355125 |
261 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397848135 rs1369433516 |
264 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8355130 rs752066677 RCV001302235 |
265 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766817615 CA8355129 |
265 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397848170 rs1208925550 |
267 | S>Y | No |
ClinGen gnomAD |
|
|
CA8355131 rs755512125 |
269 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA397848195 rs1303182733 |
269 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755895697 CA397848218 |
270 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs377242828 CA397848213 |
270 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8355133 rs377242828 |
270 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755895697 CA8355134 |
270 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001322600 CA8355135 rs370140452 |
272 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397848266 rs370140452 |
272 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397848298 rs749049836 |
273 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355136 rs749049836 |
273 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776090557 CA8355168 |
275 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA287473341 rs985101020 |
277 | L>R | No |
ClinGen gnomAD |
|
|
rs140702003 CA8355170 |
278 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140702003 CA8355169 |
278 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287473363 rs968150359 RCV001005039 |
280 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1217544012 CA397848630 |
281 | H>D | No |
ClinGen gnomAD |
|
|
CA397848639 rs1242125620 |
281 | H>L | No |
ClinGen gnomAD |
|
|
rs1242125620 CA397848633 |
281 | H>R | No |
ClinGen gnomAD |
|
|
RCV001269523 rs2074277177 |
283 | L>F | No |
ClinVar dbSNP |
|
|
rs1416286545 CA397848750 |
285 | F>L | No |
ClinGen gnomAD |
|
|
rs145799159 CA8355176 |
285 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779998259 CA8355177 |
286 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746988654 CA8355178 |
287 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1320547759 CA397848887 |
288 | D>H | No |
ClinGen gnomAD |
|
|
rs1346073110 CA397848935 |
289 | G>C | No |
ClinGen gnomAD |
|
|
rs754851216 CA8355179 |
290 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs371500722 CA8355180 |
292 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371500722 CA287473389 |
292 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397849193 rs1055897133 |
298 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 298 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000504521 RCV001362990 rs560038082 CA8355182 |
298 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1055897133 CA287473449 |
298 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs774657140 CA8355183 |
301 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348285117 CA397849309 |
301 | R>H | No |
ClinGen gnomAD |
|
|
rs1206472792 CA397849323 |
302 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8355184 rs746256314 |
304 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1339143182 CA397849404 |
305 | T>A | No |
ClinGen gnomAD |
|
|
rs375033488 CA8355185 |
305 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776212278 CA8355189 |
307 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149828392 CA8355188 |
307 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8355190 rs761173739 |
310 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764895538 CA8355191 |
310 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 312 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397849647 rs1221257423 |
313 | E>A | No |
ClinGen TOPMed |
|
|
CA8355193 rs373141086 |
313 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597421269 CA397849663 |
314 | V>G | No |
ClinGen Ensembl |
|
|
rs766212187 CA397849667 |
315 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766212187 CA8355194 |
315 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751343013 CA8355195 |
315 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1377386497 CA397849672 |
316 | A>T | No |
ClinGen gnomAD |
|
|
rs1367436900 CA397849730 |
317 | T>I | No |
ClinGen TOPMed |
|
|
CA397849775 rs1298685626 |
319 | A>S | No |
ClinGen TOPMed |
|
|
rs1597422052 CA397850034 |
321 | K>N | No |
ClinGen Ensembl |
|
|
CA397850026 rs1299115479 |
321 | K>R | No |
ClinGen gnomAD |
|
|
rs1156751821 CA397850046 |
322 | Q>* | No |
ClinGen gnomAD |
|
|
CA397850068 rs1365155393 |
322 | Q>R | No |
ClinGen gnomAD |
|
|
rs1402982750 CA397850114 |
324 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs146558070 CA8355242 CA397850172 |
325 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257753413 CA397850150 |
325 | S>R | No |
ClinGen TOPMed |
|
|
rs1277574407 CA397850197 |
326 | G>A | No |
ClinGen TOPMed |
|
|
CA8355244 rs369984114 |
328 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413409146 CA397850309 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs1305092413 CA397850331 |
332 | A>D | No |
ClinGen gnomAD |
|
|
CA397850401 rs1380609672 |
335 | P>L | No |
ClinGen gnomAD |
|
|
rs1380952484 CA397850405 |
336 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780213284 CA287474203 |
339 | L>P | No |
ClinGen Ensembl |
|
|
rs1555530889 RCV000503938 CA397850500 |
340 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1241187806 CA397850531 |
341 | A>V | No |
ClinGen gnomAD |
|
|
CA397850536 COSM473439 rs1279617667 |
342 | C>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA397850577 rs1345838314 |
343 | G>C | No |
ClinGen gnomAD |
|
|
CA287474236 CA287474233 rs138784430 |
345 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355248 rs778192810 |
345 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538474084 CA8355250 |
346 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377611540 CA8355251 |
347 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355252 rs371006232 |
347 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397850743 rs1258025228 |
348 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA397850755 rs1597422220 |
349 | L>P | No |
ClinGen Ensembl |
|
|
rs1392939921 CA397850904 |
355 | D>E | No |
ClinGen gnomAD |
|
|
rs1196964149 CA397850899 |
355 | D>H | No |
ClinGen gnomAD |
|
|
rs1196964149 RCV001344472 |
355 | D>N | No |
ClinVar dbSNP |
|
|
rs760476968 CA8355256 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8355257 rs764152004 |
365 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA397851189 rs1177021435 |
371 | T>I | No |
ClinGen Ensembl |
|
|
CA397851196 rs1369139800 |
372 | H>Y | No |
ClinGen gnomAD |
|
|
CA397851213 rs1279487326 |
374 | C>F | No |
ClinGen gnomAD |
|
|
rs1279487326 CA397851211 |
374 | C>Y | No |
ClinGen gnomAD |
|
|
CA8355260 rs375249946 |
376 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397851276 rs1202396931 |
377 | P>S | No |
ClinGen gnomAD |
|
|
CA287474301 rs552807362 |
378 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA287474335 rs552807362 |
378 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1192844944 CA397851306 |
379 | G>S | No |
ClinGen gnomAD |
|
|
CA8355262 rs755222519 |
380 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767714126 CA8355263 |
381 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355264 rs753075272 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8355265 rs375768855 |
382 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397851426 rs1168969780 |
384 | S>L | No |
ClinGen gnomAD |
|
|
rs1403158957 CA397851450 |
386 | A>S | No |
ClinGen gnomAD |
|
|
rs1466469020 CA397851469 |
386 | A>V | No |
ClinGen gnomAD |
|
|
rs199669019 CA8355267 |
387 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013244580 CA287474350 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749912677 CA8355289 |
389 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779681689 CA8355291 |
394 | C>Y | No |
ClinGen ExAC |
|
|
rs1455229030 CA397851823 |
395 | W>C | No |
ClinGen Ensembl |
|
|
CA8355292 rs768411006 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397851941 rs1278266857 |
401 | G>R | No |
ClinGen TOPMed |
|
|
CA8355293 rs781203702 |
406 | S>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000970320 rs116535684 CA8355294 RCV000251491 |
408 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs116535684 CA397852200 |
408 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342264835 CA397852213 |
409 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000437085 rs865931339 CA16607865 |
409 | R>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA287474505 rs865931339 |
409 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs184300267 CA287474507 |
410 | E>D | No |
ClinGen 1000Genomes |
|
|
rs543868835 CA8355295 |
414 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200723991 CA287474512 |
415 | Q>* | No |
ClinGen Ensembl |
|
|
CA287474515 rs925096210 |
415 | Q>P | No |
ClinGen TOPMed |
|
|
COSM1386962 rs759563684 CA8355297 |
416 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1401051154 CA397852329 |
416 | R>H | No |
ClinGen TOPMed |
|
|
CA397852404 rs1254646287 |
420 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1254646287 CA397852406 |
420 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA397852397 rs1254646287 |
420 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8355300 rs760941679 |
421 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8355301 rs764296379 |
422 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA397853969 rs1597423061 |
424 | T>P | No |
ClinGen Ensembl |
|
|
rs567221089 CA8355322 |
425 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 426 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8355323 rs761911830 |
427 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA397854149 rs1302675349 |
429 | V>A | No |
ClinGen gnomAD |
|
|
rs1331192032 CA397854161 |
430 | S>N | No |
ClinGen gnomAD |
|
|
rs765684862 CA8355324 |
433 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531230582 CA287474691 |
434 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1259138921 CA397854300 |
436 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1259138921 CA397854303 |
436 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1567580804 CA397854332 |
437 | V>L | No |
ClinGen Ensembl |
|
|
rs1337613715 CA8355326 |
438 | S>F | No |
ClinGen TOPMed |
|
|
CA287474697 rs912535971 |
439 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8355328 rs188668951 |
442 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA287474702 rs759111012 |
444 | G>R | No |
ClinGen gnomAD |
|
|
rs1312198632 CA397854725 |
445 | P>S | No |
ClinGen TOPMed |
|
|
CA287474707 rs1046823 |
446 | G>V | No |
ClinGen Ensembl |
|
|
CA397854819 rs1456007643 |
447 | N>S | No |
ClinGen gnomAD |
|
|
CA397854871 rs1399106809 |
449 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs147407953 RCV001228103 CA287474710 |
451 | P>L | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs752432522 CA8355332 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8355335 rs370050251 |
454 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355334 rs370050251 |
454 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1064796155 RCV000481907 |
456 | S>missing | No |
ClinVar dbSNP |
|
|
rs1279166931 CA397855253 |
456 | S>C | No |
ClinGen gnomAD |
|
|
CA397855251 rs1279166931 |
456 | S>G | No |
ClinGen gnomAD |
|
|
CA397855294 rs1567580924 |
456 | S>N | No |
ClinGen Ensembl |
|
|
rs778763212 CA8355337 |
457 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA397855470 rs1417855486 |
458 | L>P | No |
ClinGen TOPMed |
|
|
CA397855511 rs1243148768 |
459 | P>S | No |
ClinGen gnomAD |
|
|
rs768680892 CA8355339 |
463 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs776553040 CA8355340 |
465 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355341 rs748462203 |
467 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770072513 CA8355359 |
470 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs748109782 CA8355358 |
470 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1446584973 CA397856307 |
471 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1446584973 CA397856318 |
471 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8355360 rs777813887 |
472 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8355362 rs771464995 |
474 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs771464995 CA8355363 |
474 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310295654 CA397856407 |
475 | L>I | No |
ClinGen gnomAD |
|
|
CA397856451 rs1212190637 |
476 | L>P | No |
ClinGen gnomAD |
|
|
CA8355364 rs760176224 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8355366 rs775066741 |
480 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1192392136 CA397856725 |
482 | Q>* | No |
ClinGen gnomAD |
|
|
CA397856787 rs1179698637 |
483 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA287474835 rs201691365 |
486 | P>S | No |
ClinGen TOPMed |
|
|
CA287474837 rs878951822 |
487 | E>Q | No |
ClinGen Ensembl |
|
|
CA397857005 rs1360292409 |
488 | P>L | No |
ClinGen gnomAD |
|
|
rs1178844725 CA397856966 |
488 | P>S | No |
ClinGen gnomAD |
|
|
rs765076522 CA8355371 |
489 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8355372 rs750216846 |
489 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs142603882 CA8355374 |
490 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355373 rs758338202 |
490 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1274290048 CA397857096 |
491 | S>I | No |
ClinGen gnomAD |
|
|
rs1317289708 CA397857287 |
494 | E>G | No |
ClinGen gnomAD |
|
|
rs35123152 CA397857263 |
494 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA287474852 rs35123152 VAR_057620 |
494 | E>Q | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs777880143 CA8355377 |
495 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs139496430 CA8355378 |
498 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA287474853 rs1861948 |
501 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1489158650 CA397857585 |
503 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
RCV000087231 CA229164 rs483352746 |
504 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs376624508 CA8355379 |
505 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779483078 CA8355380 |
506 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143189042 CA8355381 |
506 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143189042 CA8355382 |
506 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355384 rs146651237 |
507 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8355386 rs768089496 |
508 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140721613 CA8355387 |
509 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762610453 CA8355390 |
513 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144549494 CA8355389 |
513 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8355391 rs766375350 |
516 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1318311365 CA397858212 |
518 | W>* | No |
ClinGen gnomAD |
|
|
CA397858193 rs1597423860 |
518 | W>G | No |
ClinGen Ensembl |
|
|
rs751494826 CA8355392 |
519 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753960173 RCV001299936 CA8355399 |
520 | G>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs146634933 CA397858310 CA8355397 |
520 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753960173 CA8355398 |
520 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146634933 CA8355396 |
520 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780433406 CA397858361 |
521 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287474897 rs967111874 |
521 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780433406 CA8355403 |
521 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7640 CA287474913 |
522 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs373064567 | 522 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8355408 rs769202794 |
522 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769202794 CA8355409 |
522 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355407 rs769202794 RCV000502348 |
522 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs7640 CA8355411 |
522 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2074303238 RCV001344215 |
522 | A>W | No |
ClinVar dbSNP |
|
|
rs772815432 CA8355413 |
523 | P>A | No |
ClinGen ExAC TOPMed |
|
|
rs758650970 CA287474944 |
524 | D>A | No |
ClinGen Ensembl |
|
|
CA397858460 rs1567581455 |
524 | D>H | No |
ClinGen Ensembl |
|
|
CA287474948 rs907622178 |
525 | S>F | No |
ClinGen TOPMed |
|
|
rs1266033474 CA397858536 |
525 | S>P | No |
ClinGen gnomAD |
|
|
CA397858587 rs1478333621 |
526 | S>G | No |
ClinGen gnomAD |
|
|
rs542482131 CA8355415 |
529 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397858784 rs561145111 |
531 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs561145111 CA287474952 |
531 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1307678602 CA397858790 |
531 | H>P | No |
ClinGen TOPMed |
|
|
rs780444705 CA287474953 |
532 | Q>L | No |
ClinGen Ensembl |
|
|
rs1165527496 CA397858849 |
533 | G>V | No |
ClinGen gnomAD |
|
|
rs1398284624 CA397858861 |
534 | E>K | No |
ClinGen gnomAD |
|
|
rs563854971 CA8355418 |
535 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753976562 CA8355419 |
535 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8355420 rs80354016 |
536 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765587386 CA8355421 |
538 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8355423 rs758623071 |
539 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8355422 rs549557586 |
539 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375718073 CA8355424 |
540 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM985010 rs375718073 CA287474981 |
540 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747691719 CA8355428 |
547 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1184421010 CA397859442 |
547 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 548 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397859515 rs1462713639 |
548 | I>M | No |
ClinGen TOPMed |
|
|
CA397859487 rs1309855082 |
548 | I>V | No |
ClinGen TOPMed |
1 associated diseases with Q9BUR4
[MIM: 613988]: Dyskeratosis congenita, autosomal recessive, 3 (DKCB3)
A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:21205863, ECO:0000269|PubMed:21602826}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:21205863, ECO:0000269|PubMed:21602826}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q9BUR4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 160 - 197 | IPR001680-1 |
| repeat | WD40 repeat | 261 - 304 | IPR001680-2 |
| repeat | WD40 repeat | 311 - 355 | IPR001680-3 |
| repeat | WD40 repeat | 356 - 398 | IPR001680-4 |
| repeat | WD40 repeat | 400 - 441 | IPR001680-5 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cajal body | A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| telomerase holoenzyme complex | Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| Cajal body organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of Cajal bodies, nuclear bodies that appear ultrastructurally as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter and are enriched in ribonucleoproteins, and certain general RNA polymerase II transcription factors. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| positive regulation of DNA repair | Any process that activates or increases the frequency, rate or extent of DNA repair. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of double-strand break repair via nonhomologous end joining | Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| positive regulation of establishment of protein localization to telomere | Any process that activates or increases the frequency, rate or extent of establishment of protein localization to telomere. |
| positive regulation of telomerase activity | Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
| protein localization to Cajal body | A process in which a protein is transported to, or maintained in, a location within a Cajal body. |
| RNA folding | The process of assisting in the covalent and noncovalent assembly of single or multimeric RNAs into the correct tertiary structure. |
| scaRNA localization to Cajal body | A process in which a small Cajal body-specific RNA is transported to, or maintained in, a Cajal body. |
| telomerase RNA localization to Cajal body | A process in which telomerase RNA (TERC) is transported to, or maintained in, a Cajal body. |
| telomere formation via telomerase | A cellular process that results in the formation of a telomere at a non-telomeric double-stranded DNA end that involves the activity of a telomerase enzyme. |
| telomere maintenance via telomerase | The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTLETQPLA | PDCCPSDQDP | APAHPSPHAS | PMNKNADSEL | MPPPPERGDP | PRLSPDPVAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SAVSQELREG | DPVSLSTPLE | TEFGSPSELS | PRIEEQELSE | NTSLPAEEAN | GSLSEEEANG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PELGSGKAME | DTSGEPAAED | EGDTAWNYSF | SQLPRFLSGS | WSEFSTQPEN | FLKGCKWAPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSCILTNSAD | NILRIYNLPP | ELYHEGEQVE | YAEMVPVLRM | VEGDTIYDYC | WYSLMSSAQP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DTSYVASSSR | ENPIHIWDAF | TGELRASFRA | YNHLDELTAA | HSLCFSPDGS | QLFCGFNRTV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RVFSTARPGR | DCEVRATFAK | KQGQSGIISC | IAFSPAQPLY | ACGSYGRSLG | LYAWDDGSPL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ALLGGHQGGI | THLCFHPDGN | RFFSGARKDA | ELLCWDLRQS | GYPLWSLGRE | VTTNQRIYFD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDPTGQFLVS | GSTSGAVSVW | DTDGPGNDGK | PEPVLSFLPQ | KDCTNGVSLH | PSLPLLATAS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GQRVFPEPTE | SGDEGEELGL | PLLSTRHVHL | ECRLQLWWCG | GAPDSSIPDD | HQGEKGQGGT |
| EGGVGELI |