O60832
PR
Gene name |
DKC1 |
Protein name |
H/ACA ribonucleoprotein complex subunit DKC1 |
Names |
CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1736 |
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
215 variants for O60832
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs121912303 VAR_010076 RCV001852640 CA343245 RCV000032202 |
2 | A>V | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000733974 RCV001078718 CA10566951 rs782343800 |
7 | I>T | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199422242 CA343242 RCV000032200 |
10 | P>L | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376632263 CA10566955 RCV001313757 |
14 | K>R | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497802 rs782201995 RCV001233988 |
17 | K>missing | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041206 rs781849751 CA10566959 |
22 | L>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA343253 RCV000032205 rs137854491 |
31 | Q>E | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012352 rs137854491 CA341118 |
31 | Q>K | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10566975 RCV001059143 rs372511229 |
33 | A>T | Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_006811 RCV000012338 CA341107 rs121912293 |
36 | F>V | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137854489 RCV000634495 RCV000012339 VAR_006812 |
37 | L>missing | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs137854489 VAR_006812 |
37 | L>del | DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity [UniProt] | Yes |
UniProt dbSNP |
|
RCV000012351 VAR_015674 rs28936072 CA264769 RCV000055631 |
38 | I>T | Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita, X-linked HHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121912296 VAR_010077 RCV000032188 CA343214 |
39 | K>E | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_006813 rs121912292 CA341112 RCV000012340 |
40 | P>R | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032191 RCV002514129 VAR_010078 rs121912302 CA343221 |
41 | E>K | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032194 rs199422243 CA343228 |
43 | K>E | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2071733846 RCV001195949 |
45 | A>T | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012349 rs121912304 VAR_015675 RCV000816060 RCV000254868 CA156187 |
49 | T>M | Dyskeratosis congenita, X-linked Dyskeratosis congenita HHS; increases interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000696342 rs1569558474 CA414888963 |
50 | S>Y | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080707 | 54 | L>V | DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity [UniProt] | Yes | UniProt |
|
rs121912287 CA266024 RCV000059286 VAR_063821 |
56 | L>S | Dyskeratosis congenita, X-linked DKCX; due to a 2 nucleotide inversion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002411772 RCV001209989 rs2071739379 |
64 | V>G | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343232 rs121912301 VAR_010079 RCV000032196 |
65 | R>T | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001551970 VAR_010080 RCV000032197 CA343234 rs121912297 |
66 | T>A | Dyskeratosis congenita, X-linked DKCX; decreases interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199422244 CA343236 RCV000032198 |
67 | T>I | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343239 rs199422245 RCV000032199 |
68 | H>Q | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677353 rs1557264102 CA414889375 |
68 | H>R | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000059287 VAR_063822 rs121912306 CA266026 |
72 | L>F | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_006814 rs121912294 CA255932 RCV000012341 |
72 | L>Y | Dyskeratosis congenita, X-linked DKCX; requires 2 nucleotide substitutions [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001210991 RCV003168951 RCV000478198 rs782202263 CA10566992 |
87 | I>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000479038 RCV000012350 CA264767 RCV000055630 RCV001857333 VAR_015676 rs121912305 |
121 | S>G | Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita, X-linked Dyskeratosis congenita HHS; no effect on interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000536813 rs2728532 |
123 | T>= | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001091838 rs374799227 RCV000549452 CA10567015 |
139 | A>T | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000079663 CA221683 rs199422246 RCV000032201 |
158 | R>W | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2071754474 RCV001351935 |
162 | A>T | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782159247 RCV000634485 CA337308906 RCV003162830 |
163 | I>L | Dyskeratosis congenita Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs782159247 RCV001315023 CA414890035 |
163 | I>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs782622660 RCV001242372 |
165 | G>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301810 rs2071758363 |
190 | V>I | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687325 COSM1715879 RCV002544776 CA10567056 rs374771308 |
208 | D>N | skin Dyskeratosis congenita Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2071759206 RCV001218670 |
210 | E>G | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61757608 RCV001079147 RCV001727714 RCV000420457 CA10567108 |
259 | H>P | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032203 rs146700772 CA343247 RCV002433482 RCV000634503 RCV001573922 |
280 | S>R | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2071791712 RCV001244338 |
295 | S>F | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199422247 RCV000032204 CA343250 |
304 | S>N | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032206 rs199422248 CA343256 |
314 | K>R | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032208 VAR_063823 rs121912290 RCV002371803 CA343262 |
317 | L>F | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121912290 CA343259 RCV000032207 |
317 | L>V | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_010081 RCV000032209 CA343264 rs2728726 |
321 | L>V | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032210 CA343266 VAR_063824 rs121912291 RCV001294532 |
322 | R>Q | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001214307 CA337310899 rs140273992 |
326 | G>S | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2071814299 RCV001322636 |
327 | I>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071814456 RCV001303936 |
329 | V>I | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546953 rs1248744087 CA414894870 |
347 | I>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000032183 VAR_010082 CA343200 rs121912298 |
350 | M>I | Dyskeratosis congenita, X-linked DKCX; increases interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_010083 CA343198 rs121912300 RCV000032182 |
350 | M>T | Dyskeratosis congenita, X-linked DKCX; decreases interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA414895026 rs1114167422 RCV000491810 |
352 | T>A | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009264 rs121912288 RCV000464438 RCV002399318 RCV000012343 CA341116 |
353 | A>V | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX and HHS; increases interaction with SHQ1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002408457 CA255934 rs137854492 RCV000012353 |
357 | T>A | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032184 CA343202 rs199422249 |
359 | D>N | Dyskeratosis congenita, X-linked Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA16608850 RCV000779660 RCV000442656 RCV001257984 rs1057520719 |
378 | R>Q | Congenital cerebellar hypoplasia Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343208 RCV000032186 rs199422251 |
384 | P>L | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032185 rs199422250 CA343205 |
384 | P>S | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199422252 CA343211 RCV000032187 |
386 | A>T | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343216 rs199422253 RCV000032189 |
398 | L>P | Dyskeratosis congenita, X-linked Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001172399 rs2071871731 |
399 | D>H | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_006815 CA341114 rs121912295 RCV000012342 |
402 | G>E | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343219 VAR_010084 rs121912299 RCV000032190 |
402 | G>R | Dyskeratosis congenita, X-linked DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001242033 CA414898167 rs1347625639 |
404 | P>A | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000255428 RCV000032192 rs199422254 CA343223 RCV001048156 |
408 | T>I | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_063825 CA343226 RCV002371802 RCV000032193 rs121912289 |
409 | P>L | Dyskeratosis congenita, X-linked Dyskeratosis congenita DKCX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000501902 CA414898480 rs1557265435 |
419 | Y>N | Dyskeratosis congenita, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001245403 rs2071881185 |
426 | E>Q | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782117503 CA10567256 COSM1466889 RCV001064678 |
445 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Dyskeratosis congenita [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1289430524 RCV000559231 CA414899313 |
449 | R>P | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA414899312 rs1289430524 RCV001027568 |
449 | R>Q | Variant assessed as Somatic; impact. Inherited Immunodeficiency Diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001401399 CA414899338 rs1557265675 |
450 | E>D | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001234189 CA10567265 RCV001815028 rs782631659 |
450 | E>V | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001211636 rs2071893244 |
451 | S>N | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295032 rs2071893601 |
458 | T>S | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690270 rs781922569 |
472 | K>missing | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
CA414900397 RCV001233511 rs1557265697 |
486 | G>E | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001816790 rs150319104 RCV000861992 RCV000721040 CA10567280 RCV001573187 |
486 | G>R | Dyskeratosis congenita History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782598355 RCV002545013 RCV001308200 CA10567282 |
491 | D>N | Dyskeratosis congenita Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001319469 CA414900662 rs1557265768 |
494 | S>N | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs782576893 RCV000535422 |
503 | K>missing | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782576893 RCV000983964 |
504 | K>missing | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782576893 RCV000473584 |
504 | K>missing | Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
CA414900926 rs1557265783 CA414900923 RCV000634490 |
504 | K>N | Variant assessed as Somatic; impact. Dyskeratosis congenita [NCI-TCGA, ClinVar] | Yes |
ClinGen gnomAD ClinVar NCI-TCGA dbSNP |
|
rs782576893 RCV001573717 RCV000192917 RCV000615358 RCV002390504 RCV000228305 |
505 | K>missing | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548376 CA414900949 rs1370393255 |
505 | K>N | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs782576893 RCV001574024 RCV000758194 RCV000395921 RCV000234537 RCV002392687 |
505 | K>missing | Dyskeratosis congenita, X-linked Dyskeratosis congenita [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10567308 RCV001240959 CA10567307 rs186518477 |
508 | E>D | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen 1000Genomes ExAC gnomAD ClinVar dbSNP |
|
rs782491403 RCV000703624 CA10567310 |
511 | L>F | Dyskeratosis congenita [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs868935548 CA414888624 |
4 | A>E | No |
ClinGen Ensembl |
|
|
CA414888622 rs868921086 |
4 | A>S | No |
ClinGen Ensembl |
|
|
rs1557263733 CA414888627 |
5 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10566957 rs782121373 |
19 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782010351 CA10566956 COSM1466887 |
19 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177007176 CA414888750 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10566958 rs782389383 |
21 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414888820 rs868985893 |
29 | E>K | No |
ClinGen Ensembl |
|
|
rs137854490 CA337306352 |
37 | L>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 39 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10566976 rs781941481 |
43 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414889367 rs1557264100 |
67 | T>A | No |
ClinGen gnomAD |
|
|
CA337308295 rs2853347 |
76 | S>* | No |
ClinGen Ensembl |
|
|
rs1178002753 CA414889430 |
77 | N>D | No |
ClinGen TOPMed |
|
|
CA337308315 rs897094414 |
82 | E>Q | No |
ClinGen gnomAD |
|
|
rs1557264153 RCV000518938 CA414889586 |
97 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs11558982 CA414889593 |
98 | S>A | No |
ClinGen TOPMed |
|
|
CA337308502 rs11558982 |
98 | S>P | No |
ClinGen TOPMed |
|
|
rs1036880108 CA337308537 |
111 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 124 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10567013 rs782652709 |
138 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782763826 CA10567014 |
138 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414889875 rs1486992777 |
141 | R>C | No |
ClinGen TOPMed |
|
|
rs781931861 CA10567016 |
145 | S>L | No |
ClinGen ExAC |
|
|
rs1557264173 CA414889931 |
148 | S>R | No |
ClinGen gnomAD |
|
|
rs782416470 CA10567018 |
149 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10567031 rs781876771 |
155 | G>A | No |
ClinGen ExAC |
|
|
CA414889999 rs1557264254 |
157 | V>I | No |
ClinGen gnomAD |
|
|
CA10567033 rs782622660 |
165 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319455475 CA414890302 |
202 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10567057 rs782193589 |
209 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA414890373 rs1557264304 |
211 | R>I | No |
ClinGen gnomAD |
|
|
CA414890442 rs5945234 |
219 | S>I | No |
ClinGen Ensembl |
|
|
rs5945234 CA337309548 |
219 | S>N | No |
ClinGen Ensembl |
|
|
CA337309558 rs2728533 VAR_022553 |
223 | G>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs2728534 CA337309574 |
226 | I>S | No |
ClinGen Ensembl |
|
| TCGA novel | 247 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1557489 CA414890831 rs1352957535 |
254 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs782109583 CA414890900 |
257 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs782109583 CA10567070 |
257 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557264637 CA414891076 |
260 | M>I | No |
ClinGen gnomAD |
|
|
CA414891066 rs1557264636 |
260 | M>V | No |
ClinGen gnomAD |
|
|
CA414891134 rs868956319 |
265 | D>E | No |
ClinGen Ensembl |
|
|
rs1557264640 CA414891235 |
273 | Y>D | No |
ClinGen gnomAD |
|
|
CA10567112 rs200438009 |
284 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs17850575 CA337310151 |
285 | V>F | No |
ClinGen Ensembl |
|
|
rs1373136124 CA414891528 |
291 | K>R | No |
ClinGen TOPMed |
|
|
CA10567113 rs781793051 |
301 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA337310853 rs2728726 |
321 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10567129 rs782055736 |
325 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA16621265 RCV000479908 rs1064795353 |
327 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781943265 CA10567132 |
336 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA337310903 rs958540765 |
343 | I>V | No |
ClinGen Ensembl |
|
|
CA414894592 rs1350308277 |
345 | M>V | No |
ClinGen TOPMed |
|
|
CA414894613 rs1313895790 |
346 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 351 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10567151 rs782079822 |
357 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782162028 CA10567154 |
362 | I>M | No |
ClinGen ExAC |
|
|
CA414895302 rs1261229625 |
362 | I>T | No |
ClinGen TOPMed |
|
|
rs1557265132 CA414895292 |
362 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 368 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414895498 rs1557265137 |
370 | I>L | No |
ClinGen gnomAD |
|
|
rs483352713 RCV000087191 CA229089 |
383 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 385 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000413656 rs1057518426 CA16043199 |
392 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782379748 CA10567184 |
405 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA337313036 rs782342974 |
414 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1557265433 CA414898453 |
418 | D>Y | No |
ClinGen gnomAD |
|
|
CA414898789 rs1445276728 |
423 | A>T | No |
ClinGen TOPMed |
|
|
rs1557265538 CA414898854 |
425 | K>R | No |
ClinGen gnomAD |
|
|
rs782376397 CA10567248 |
427 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10567250 rs782085131 |
431 | V>A | No |
ClinGen ExAC |
|
| TCGA novel | 431 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949327136 CA337313566 |
432 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 434 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283758158 CA414899053 |
436 | Q>R | No |
ClinGen TOPMed |
|
|
rs1557265548 CA414899061 |
437 | V>I | No |
ClinGen gnomAD |
|
|
CA414899105 rs1569558635 |
440 | E>A | No |
ClinGen Ensembl |
|
|
CA10567254 rs782193188 |
440 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878853071 RCV000224114 CA10581363 |
449 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 450 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs370788135 CA10567266 |
451 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs1557265679 CA414899403 |
453 | S>I | No |
ClinGen gnomAD |
|
|
rs1279788505 CA414899447 |
455 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 459 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398108367 CA414899562 |
459 | P>L | No |
ClinGen TOPMed |
|
|
CA414899547 rs1557265684 |
459 | P>T | No |
ClinGen gnomAD |
|
|
rs1339704576 CA414899565 |
460 | P>S | No |
ClinGen TOPMed |
|
|
CA10567270 rs782434084 |
463 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782211602 CA10567273 |
472 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10567276 rs782061570 |
482 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414900326 rs1557265693 |
484 | E>* | No |
ClinGen gnomAD |
|
|
CA10567277 rs781923825 |
484 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1603429714 CA414900365 |
485 | S>N | No |
ClinGen Ensembl |
|
|
CA10567281 rs782486294 |
488 | E>Q | No |
ClinGen ExAC |
|
|
rs782335008 CA337314476 |
495 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 496 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414900707 rs1557265771 |
496 | T>N | No |
ClinGen gnomAD |
|
|
CA414900721 rs868927161 |
497 | T>N | No |
ClinGen Ensembl |
|
|
CA10567302 rs782742244 |
498 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA414900764 rs1358702646 |
499 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 506 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10567306 rs781905423 |
507 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA414900967 rs781905423 |
507 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1166701493 CA414900996 |
508 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10567309 rs781861230 |
511 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10567311 rs782612253 |
512 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 513 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337314516 rs138410549 |
513 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
2 associated diseases with O60832
[MIM: 305000]: Dyskeratosis congenita, X-linked (DKCX)
A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:10364516, ECO:0000269|PubMed:15304085, ECO:0000269|PubMed:17417794, ECO:0000269|PubMed:18802941, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:19879169, ECO:0000269|PubMed:21602826, ECO:0000269|PubMed:25219674, ECO:0000269|PubMed:9590285}. Note=The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674). {ECO:0000269|PubMed:25219674}.
[MIM: 305000]: Hoyeraal-Hreidarsson syndrome (HHS)
A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. {ECO:0000269|PubMed:10583221, ECO:0000269|PubMed:12437656, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:24914498}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:10364516, ECO:0000269|PubMed:15304085, ECO:0000269|PubMed:17417794, ECO:0000269|PubMed:18802941, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:19879169, ECO:0000269|PubMed:21602826, ECO:0000269|PubMed:25219674, ECO:0000269|PubMed:9590285}. Note=The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674). {ECO:0000269|PubMed:25219674}.
- A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. {ECO:0000269|PubMed:10583221, ECO:0000269|PubMed:12437656, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:24914498}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for O60832
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PUA domain | 297 - 371 | IPR002478 |
| domain | Pseudouridine synthase II, N-terminal | 110 - 226 | IPR002501 |
| domain | Uncharacterised domain CHP00451 | 285 - 366 | IPR004521 |
| domain | Dyskerin-like | 48 - 106 | IPR012960 |
| domain | tRNA pseudouridylate synthase B, C-terminal | 227 - 293 | IPR032819 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| box H/ACA scaRNP complex | A box H/ACA RNP complex that is located in the Cajal body of the nucleoplasm. In higher eukaryotes, box H/ACA RNP located in Cajal bodies mediate pseudouridylation of spliceosomal snRNAs. |
| box H/ACA snoRNP complex | A box H/ACA RNP complex that is located in the nucleolus. |
| box H/ACA telomerase RNP complex | A box H/ACA ribonucleoprotein complex that contains the RNA component of vertebrate telomerase, the enzyme essential for the replication of chromosome termini in most eukaryotes. This ribonucleoprotein complex is a structural box H/ACA RNP, which does not have the catalytic pseudouridylation function shared by the majority of H/ACA RNPs present in the cell. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| box H/ACA snoRNA binding | Binding to a box H/ACA small nucleolar RNA. |
| pseudouridine synthase activity | Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| telomerase activity | Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Catalyzes extension of the 3'- end of a DNA strand by one deoxynucleotide at a time using an internal RNA template that encodes the telomeric repeat sequence. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| box H/ACA RNA 3'-end processing | Any process involved in forming the mature 3' end of a box H/ACA RNA molecule. |
| enzyme-directed rRNA pseudouridine synthesis | The intramolecular conversion of uridine to pseudouridine during ribosome biogenesis where the enzyme specifies the site that becomes pseudouridylated without using a guide RNA. |
| mRNA pseudouridine synthesis | The intramolecular conversion of uridine to pseudouridine in an mRNA molecule. |
| 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 protein localization to Cajal body | Any process that activates or increases the frequency, rate or extent of protein localization to Cajal body. |
| 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). |
| positive regulation of telomerase RNA localization to Cajal body | Any process that activates or increases the frequency, rate or extent of telomerase RNA localization to Cajal body. |
| positive regulation of telomere maintenance via telomerase | Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
| regulation of telomerase RNA localization to Cajal body | Any process that modulates the frequency, rate or extent of telomerase RNA localization to Cajal body. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| rRNA pseudouridine synthesis | The intramolecular conversion of uridine to pseudouridine in an rRNA molecule. |
| scaRNA localization to Cajal body | A process in which a small Cajal body-specific RNA is transported to, or maintained in, a Cajal body. |
| snRNA pseudouridine synthesis | The intramolecular conversion of uridine to pseudouridine in an snRNA molecule. |
| telomerase RNA stabilization | Prevention of degradation of telomerase RNA (TERC) molecules. |
| telomere maintenance via telomerase | The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADAEVIILP | KKHKKKKERK | SLPEEDVAEI | QHAEEFLIKP | ESKVAKLDTS | QWPLLLKNFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLNVRTTHYT | PLACGSNPLK | REIGDYIRTG | FINLDKPSNP | SSHEVVAWIR | RILRVEKTGH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGTLDPKVTG | CLIVCIERAT | RLVKSQQSAG | KEYVGIVRLH | NAIEGGTQLS | RALETLTGAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FQRPPLIAAV | KRQLRVRTIY | ESKMIEYDPE | RRLGIFWVSC | EAGTYIRTLC | VHLGLLLGVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQMQELRRVR | SGVMSEKDHM | VTMHDVLDAQ | WLYDNHKDES | YLRRVVYPLE | KLLTSHKRLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MKDSAVNAIC | YGAKIMLPGV | LRYEDGIEVN | QEIVVITTKG | EAICMAIALM | TTAVISTCDH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GIVAKIKRVI | MERDTYPRKW | GLGPKASQKK | LMIKQGLLDK | HGKPTDSTPA | TWKQEYVDYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ESAKKEVVAE | VVKAPQVVAE | AAKTAKRKRE | SESESDETPP | AAPQLIKKEK | KKSKKDKKAK |
| 490 | 500 | 510 | |||
| AGLESGAEPG | DGDSDTTKKK | KKKKKAKEVE | LVSE |