P22314
PR
Gene name |
UBA1 (A1S9T, UBE1) |
Protein name |
Ubiquitin-like modifier-activating enzyme 1 |
Names |
Protein A1S9, Ubiquitin-activating enzyme E1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7317 |
EC number |
6.2.1.45: Acid--thiol ligases |
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
4 structures for P22314
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4P22 | X-ray | 275 A | A/B | 1-439 | PDB |
| 6DC6 | X-ray | 314 A | A/C | 49-1058 | PDB |
| 7PYV | X-ray | 327 A | A/B | 631-899 | PDB |
| AF-P22314-F1 | Predicted | AlphaFoldDB |
471 variants for P22314
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001056969 CA412786491 rs1449173671 |
33 | V>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs990805894 CA329032620 RCV000793002 |
36 | V>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001265108 RCV001261201 VAR_085160 RCV001366437 RCV001815527 rs1936307795 |
41 | M>L | VEXAS syndrome VEXAS Infantile-onset X-linked spinal muscular atrophy VEXAS; somatic mutation; the underlying nucleotide substitution affects normal alternative translation initiation and leads to aberrant initiation from M-67 to produce a shorter protein with strongly reduced enzymatic activity [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001239702 rs782416867 CA10395610 RCV001261202 RCV001265107 VAR_085161 RCV001702587 |
41 | M>T | VEXAS syndrome VEXAS Infantile-onset X-linked spinal muscular atrophy VEXAS; somatic mutation; the underlying nucleotide substitution affects normal alternative translation initiation and leads to aberrant initiation from M-67 to produce a shorter protein with strongly reduced enzymatic activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP UniProt |
|
RCV002255173 RCV002363560 RCV001038219 VAR_085162 rs1936307795 RCV001265106 RCV001261200 |
41 | M>V | VEXAS syndrome VEXAS Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy VEXAS; somatic mutation; does not affect ubiquitin activating enzyme activity; does not affect subcellular localization; the underlying nucleotide substitution affects normal alternative translation initiation and leads to aberrant initiation from M-67 to produce a shorter protein with strongly reduced enzymatic activity [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1936314065 RCV001344606 |
65 | E>D | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000872075 CA10395628 rs782425809 RCV000611374 |
69 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001304077 rs1168231329 CA412787484 |
81 | R>W | Variant assessed as Somatic; impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs782523969 RCV000640823 CA10395668 RCV002358817 |
130 | V>L | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA412789260 RCV001227969 rs1159180530 |
136 | A>S | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000357217 CA10395675 rs781887272 |
144 | V>I | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs781969406 CA10395678 RCV001351762 |
146 | A>T | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000640816 CA10395679 rs782084400 |
148 | T>A | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10395703 RCV002562526 rs781828163 RCV001221460 |
167 | T>A | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1936389956 RCV001222979 |
167 | T>I | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556787682 CA412792110 RCV000815998 |
187 | V>L | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001296725 rs782068633 CA329033886 |
192 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002343275 rs185589110 CA10395707 RCV000640812 |
192 | R>W | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1936409583 RCV001169076 |
205 | E>K | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1936410112 RCV001211489 |
211 | S>C | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215817 RCV002365971 rs1936415717 |
228 | N>S | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640810 CA412793613 rs1409013948 |
245 | G>E | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10395745 RCV001300608 rs781803482 RCV002384356 |
245 | G>R | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA412793659 rs1556788006 RCV002384387 RCV001312513 |
247 | F>L | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs782434472 RCV001321247 |
249 | S>F | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1936419804 RCV001325489 |
265 | M>V | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048239 rs1556788364 CA412794648 |
287 | I>V | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs782554153 RCV001325437 RCV002377417 CA10395778 |
288 | R>H | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000700483 CA412794731 rs1365209491 RCV000593311 |
293 | S>N | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003166553 rs200541240 CA10395782 RCV001247150 RCV001566843 |
302 | S>G | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002384139 RCV000528531 rs146180431 CA10395808 |
322 | K>R | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001057275 CA10395811 rs782052714 |
326 | P>L | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA412795425 RCV001350116 rs1157237217 |
338 | Q>H | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA329034801 rs550631811 RCV000797881 |
338 | Q>R | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001197277 rs1936453274 |
343 | H>Y | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10395817 rs199942374 RCV001166162 |
345 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA10395816 RCV000797702 rs139130383 |
345 | R>W | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000640811 rs1556788657 CA412795670 |
350 | R>C | Variant assessed as Somatic; 0.0 impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001574157 CA10395821 RCV000701676 RCV002397453 rs5906354 |
350 | R>H | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002538097 RCV000811412 CA10395822 rs782429883 |
351 | N>S | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1121738 rs1261345480 RCV001207231 CA412796096 |
368 | R>Q | Variant assessed as Somatic; impact. endometrium Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001338582 CA10395848 rs782051479 |
372 | A>E | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001232670 rs782051479 |
372 | A>V | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806516 CA10395849 rs782354395 RCV000999410 |
373 | V>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069758 rs1936465009 |
377 | N>K | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10395853 RCV000802456 rs781909775 |
384 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001303078 CA10395852 rs148642741 |
384 | R>W | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1556788813 CA412796407 RCV000540370 |
387 | A>T | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207174 CA412796535 rs1556788826 |
397 | I>V | Variant assessed as Somatic; 0.0 impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000931121 RCV002382109 rs373305404 CA10395880 |
415 | G>R | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1936478450 RCV001339905 |
431 | C>S | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1936479502 RCV001055665 |
438 | V>G | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1028156593 CA329035326 RCV000817123 |
440 | T>P | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs570568650 RCV001514130 CA10395899 COSM169389 |
447 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000293475 VAR_043500 RCV000428872 CA10395900 rs2070169 |
447 | R>H | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002390962 rs201504752 RCV000935537 CA10395904 |
467 | G>D | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782565391 CA412797998 RCV000640814 |
468 | K>N | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000811668 CA412798460 rs1602635435 |
490 | I>T | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523614 CA10395925 RCV000346007 RCV002392932 rs140950898 |
496 | E>K | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA340951 COSM1231515 RCV000010434 rs80356545 VAR_043501 |
539 | M>I | ovary large_intestine Infantile-onset X-linked spinal muscular atrophy SMAX2 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1556790802 CA412801370 RCV001215799 |
544 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001198623 rs1936658933 TCGA novel |
544 | R>W | Variant assessed as Somatic; impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA340953 RCV000010435 rs80356546 VAR_043502 |
547 | S>G | Infantile-onset X-linked spinal muscular atrophy SMAX2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071121 | 557 | E>V | SMAX2 [UniProt] | Yes | UniProt |
|
CA10395978 rs782746954 RCV001203682 |
558 | R>H | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001573066 CA10395982 RCV002488833 rs150574055 RCV000610331 COSM249581 RCV000287440 |
568 | L>V | kidney Infantile-onset X-linked spinal muscular atrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1556790852 RCV000819019 CA412802185 |
577 | N>S | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA412802493 rs1215231057 RCV000816186 |
592 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1556791125 CA412802978 RCV000557966 |
618 | Y>C | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412803474 RCV000700440 rs1318594436 |
642 | E>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1298433365 CA412806588 RCV001049813 |
687 | V>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001334132 rs1936887844 |
747 | R>C | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1936888439 RCV001312952 |
751 | P>L | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802942 rs1556793160 CA412808003 |
757 | N>S | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000872433 CA10396104 RCV002454019 rs187589555 |
767 | A>T | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs143044923 RCV000714142 RCV000341212 CA10396105 |
770 | N>H | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs868922840 RCV000443698 RCV001861629 CA16609186 |
777 | G>R | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs148382699 CA10396109 RCV000602980 RCV000640822 |
784 | R>Q | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055975 CA412808625 rs1204889932 |
787 | V>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10396113 RCV000929026 rs781842141 |
790 | F>L | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA412809097 rs1569216553 RCV000694636 |
818 | N>D | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704064 rs781852793 CA10396141 |
825 | R>H | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001222437 CA10396143 RCV002451516 rs782586380 |
835 | S>N | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1556793806 CA412809576 RCV000696150 |
847 | I>T | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs782649232 RCV001312347 CA10396154 |
859 | M>V | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA412809862 rs1351999233 RCV000813530 |
862 | I>V | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000640813 CA412810018 rs1556793890 |
874 | D>E | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412810037 RCV000706706 rs782749176 |
876 | P>A | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782087876 CA10396178 RCV001201604 |
885 | L>M | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000805242 rs782409785 CA412810878 |
917 | R>L | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000662101 CA412811160 rs1556794074 |
944 | R>C | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306843 CA412811306 rs1466232811 |
948 | Y>C | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10396221 rs186224021 RCV001069618 RCV002436679 |
960 | V>L | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200629777 RCV000875704 RCV001510416 RCV002434151 CA10396225 |
977 | D>N | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001315972 RCV002438711 CA10396227 rs782527493 |
978 | Y>C | Inborn genetic diseases Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA412811985 rs1602662535 RCV000815622 |
996 | M>K | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1185350232 CA412812377 RCV001034378 |
1023 | S>L | Variant assessed as Somatic; impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs782810802 CA10396274 RCV000792171 |
1043 | E>K | Variant assessed as Somatic; 0.0 impact. Infantile-onset X-linked spinal muscular atrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA412812616 rs1164940967 RCV001346477 |
1057 | I>S | Infantile-onset X-linked spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1602624598 CA412785955 |
3 | S>G | No |
ClinGen Ensembl |
|
|
CA412785989 rs1556786377 |
4 | S>L | No |
ClinGen gnomAD |
|
|
rs1412869340 CA412786051 |
7 | S>F | No |
ClinGen TOPMed |
|
|
rs1556786387 CA412786112 |
11 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412786118 rs1602624641 |
11 | R>H | No |
ClinGen Ensembl |
|
|
CA412786134 rs982155788 |
12 | V>L | No |
ClinGen TOPMed |
|
|
CA329032509 rs982155788 |
12 | V>M | No |
ClinGen TOPMed |
|
|
rs147024709 CA10395581 |
14 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1556786406 CA412786198 |
15 | P>R | No |
ClinGen gnomAD |
|
|
CA412786274 rs1210505561 |
18 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201253044 CA10395582 |
19 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412786313 rs1210565675 |
20 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10395584 rs782355144 |
25 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA412786396 rs1556786431 |
26 | A>T | No |
ClinGen gnomAD |
|
|
CA10395585 rs781946584 |
27 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA412786420 rs1287237456 |
27 | Q>H | No |
ClinGen TOPMed |
|
|
CA10395586 rs782250674 |
28 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs782076139 CA10395589 |
30 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA412786475 rs1556786446 |
31 | S>C | No |
ClinGen gnomAD |
|
|
rs200206019 CA10395591 |
32 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA329032594 rs201103349 |
34 | P>H | No |
ClinGen TOPMed |
|
|
CA10395592 rs782086630 |
35 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1569207442 CA412786557 |
38 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 41 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412786717 rs1556786554 |
45 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412786943 rs1556786560 |
57 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412787148 rs1404424445 |
63 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 68 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10395627 rs782283461 |
69 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412787421 rs1389388942 |
75 | V>I | No |
ClinGen TOPMed |
|
|
CA412787441 rs1556786685 |
77 | V>I | No |
ClinGen gnomAD |
|
|
CA10395630 rs782097752 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782796398 CA10395633 |
85 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781884907 CA10395635 |
88 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412787950 rs1556786723 |
103 | D>E | No |
ClinGen gnomAD |
|
|
rs369078963 CA10395637 |
105 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1483576776 CA412788071 |
108 | Q>R | No |
ClinGen TOPMed |
|
|
CA10395639 rs782536219 |
112 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10395640 rs782755847 |
113 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA412788499 rs1247993687 |
117 | Y>D | No |
ClinGen TOPMed |
|
|
rs1556786841 CA412788570 |
119 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781813468 CA10395661 |
119 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1047401967 CA329033101 |
122 | D>N | No |
ClinGen Ensembl |
|
|
CA412788759 rs1257067835 |
123 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA329033122 rs149161653 |
124 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA10395664 rs781821596 |
126 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs143306068 CA10395665 |
127 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143306068 CA412788949 |
127 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM457542 rs782282295 CA10395667 |
129 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1379688465 CA412789137 |
133 | P>S | No |
ClinGen TOPMed |
|
|
rs376327849 CA10395669 |
134 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782237056 CA10395670 |
134 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412789248 rs1159180530 |
136 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10395673 rs782246718 |
140 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782701504 CA10395677 |
145 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782776898 CA10395680 |
148 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412789967 rs1460328490 |
150 | P>L | No |
ClinGen TOPMed |
|
|
rs781848491 CA412789952 |
150 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781848491 CA10395681 |
150 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374084483 CA10395682 |
151 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781800649 CA10395684 |
152 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209396622 CA412790048 |
154 | D>G | No |
ClinGen TOPMed |
|
|
CA10395685 rs782493653 |
157 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA412791517 rs1556787574 |
161 | V>L | No |
ClinGen gnomAD |
|
|
CA412791511 rs1556787574 |
161 | V>M | No |
ClinGen gnomAD |
|
|
CA412791531 rs1556787578 |
162 | V>M | No |
ClinGen gnomAD |
|
|
rs1556787593 CA412791539 |
163 | V>M | No |
ClinGen gnomAD |
|
|
CA10395702 rs781828163 |
167 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412791691 rs1295605586 |
168 | P>L | No |
ClinGen TOPMed |
|
|
rs782177423 CA10395704 |
168 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412791707 rs1382275520 |
169 | L>P | No |
ClinGen TOPMed |
|
|
CA412791831 rs1556787651 |
174 | R>Q | No |
ClinGen gnomAD |
|
|
CA412791847 rs1556787659 |
176 | G>S | No |
ClinGen gnomAD |
|
|
rs1556787670 CA412791939 |
178 | F>L | No |
ClinGen gnomAD |
|
|
rs1556787676 CA412792018 |
182 | R>C | No |
ClinGen gnomAD |
|
|
CA10395705 rs781913635 |
182 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1556787682 CA412792106 |
187 | V>M | No |
ClinGen gnomAD |
|
|
rs1556787685 CA412792184 |
191 | T>A | No |
ClinGen gnomAD |
|
|
rs1556787688 CA412792194 COSM1121733 |
191 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA329033981 rs200692291 |
200 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1180835791 CA412792499 |
202 | F>L | No |
ClinGen TOPMed |
|
|
rs1556787891 CA412792482 |
202 | F>V | No |
ClinGen gnomAD |
|
|
CA412792675 rs1556787898 |
209 | T>I | No |
ClinGen gnomAD |
|
|
CA412792713 rs1556787900 |
211 | S>A | No |
ClinGen gnomAD |
|
|
rs781991007 CA10395719 |
212 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs199721006 CA10395718 |
212 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10395720 rs782172143 |
214 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA412792795 rs1556787913 |
215 | Q>R | No |
ClinGen gnomAD |
|
|
rs190263018 CA10395723 |
217 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1556787925 CA412792901 |
220 | M>V | No |
ClinGen gnomAD |
|
|
CA412793179 rs868995698 |
229 | P>L | No |
ClinGen Ensembl |
|
|
CA10395740 rs782088117 |
236 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782789577 CA10395741 |
239 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 247 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782434472 CA10395746 |
249 | S>C | No |
ClinGen ExAC |
|
| TCGA novel | 254 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437634484 CA412793801 |
254 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10395749 rs782501629 |
257 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10395751 rs199512751 |
261 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10395753 rs782570939 |
263 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184192290 CA412794015 COSM1558295 |
263 | Q>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10395754 rs145812406 |
264 | P>L | No |
ClinGen ESP ExAC |
|
| TCGA novel | 267 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10395756 rs781996319 CA10395757 |
268 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782605750 CA10395772 |
274 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329034567 rs138456460 |
277 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1085307839 CA412794565 RCV000488993 |
281 | S>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA412794605 rs1376020653 |
284 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412794607 rs1376020653 |
284 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10395776 rs782273343 |
285 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1556788364 CA412794650 |
287 | I>F | No |
ClinGen gnomAD |
|
|
CA10395777 rs782318458 |
288 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1464177170 CA412794718 |
292 | V>A | No |
ClinGen TOPMed |
|
|
rs1301756527 CA412794710 |
292 | V>I | No |
ClinGen TOPMed |
|
|
rs782341351 CA10395780 |
293 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA412794783 rs1556788383 |
297 | V>A | No |
ClinGen gnomAD |
|
|
CA412794810 rs1556788388 |
299 | K>R | No |
ClinGen gnomAD |
|
|
rs781993480 CA412794835 |
300 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10395803 rs781812274 |
307 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 314 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782387671 CA10395805 |
316 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370324418 CA10395806 |
318 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10395807 rs782163690 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1556788539 CA412795203 |
322 | K>E | No |
ClinGen gnomAD |
|
|
rs781934104 CA10395809 |
325 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10395810 rs782052714 |
326 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1556788556 CA412795269 |
327 | A>S | No |
ClinGen gnomAD |
|
|
CA412795277 rs1556788562 |
327 | A>V | No |
ClinGen gnomAD |
|
|
CA412795330 rs1420679391 |
331 | I>T | No |
ClinGen TOPMed |
|
|
rs1289141866 CA412795324 |
331 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781816359 CA10395812 |
332 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782806592 CA10395814 |
334 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782442496 CA10395813 |
334 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs949002599 CA329034788 |
335 | A>T | No |
ClinGen Ensembl |
|
|
rs1556788593 CA412795390 |
335 | A>V | No |
ClinGen gnomAD |
|
|
rs1556788616 CA412795458 |
340 | C>S | No |
ClinGen gnomAD |
|
|
rs1556788634 CA412795619 |
347 | P>L | No |
ClinGen gnomAD |
|
|
CA412795614 rs1556788631 |
347 | P>S | No |
ClinGen gnomAD |
|
|
rs782479979 CA10395819 |
348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782239995 CA10395818 |
348 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329034829 rs904729326 |
349 | P>L | No |
ClinGen Ensembl |
|
|
CA412795862 rs1456448556 |
354 | D>N | No |
ClinGen TOPMed |
|
|
rs1374794370 CA412795882 |
355 | A>T | No |
ClinGen TOPMed |
|
|
CA10395842 rs782222005 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782349341 CA329034954 |
358 | L>V | No |
ClinGen Ensembl |
|
|
rs1556788747 CA412795950 |
359 | V>L | No |
ClinGen gnomAD |
|
|
CA10395844 rs782648907 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782243033 CA10395845 COSM3728379 |
363 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA412796050 rs1556788755 |
364 | A>V | Variant assessed as Somatic; 0.000252 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10395846 rs149478641 |
366 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412796132 rs782051479 |
372 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412796145 rs1556788776 |
373 | V>G | No |
ClinGen gnomAD |
|
|
rs1208061610 CA412796259 |
380 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA412796328 rs1341394275 |
383 | I>F | No |
ClinGen TOPMed |
|
|
rs961461636 CA329035080 |
388 | Y>C | No |
ClinGen gnomAD |
|
|
CA329035089 rs992816181 |
390 | A>V | No |
ClinGen Ensembl |
|
|
CA329035105 rs917269296 |
391 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412796565 rs1556788833 |
399 | A>T | No |
ClinGen gnomAD |
|
|
CA329035111 rs782293936 |
399 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1399284449 CA412796569 |
400 | F>L | No |
ClinGen TOPMed |
|
|
CA412796587 rs1556788843 |
401 | I>T | No |
ClinGen gnomAD |
|
|
CA412796622 rs782501756 |
404 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412796641 rs1602633445 |
406 | A>S | No |
ClinGen Ensembl |
|
|
rs1556788856 CA412796676 |
408 | E>D | No |
ClinGen gnomAD |
|
|
rs1556788859 CA412796687 |
409 | V>A | No |
ClinGen gnomAD |
|
|
rs1556788940 CA412796789 |
412 | A>G | No |
ClinGen gnomAD |
|
|
CA412796900 rs1556788947 |
418 | M>K | No |
ClinGen gnomAD |
|
|
rs868914041 CA412796933 |
420 | I>V | No |
ClinGen Ensembl |
|
|
rs1356365937 CA412796967 |
421 | M>V | No |
ClinGen TOPMed |
|
|
CA412797083 rs1239979974 |
426 | F>V | No |
ClinGen TOPMed |
|
|
rs1375345450 CA412797135 |
428 | A>D | No |
ClinGen TOPMed |
|
|
rs782571022 CA10395882 |
429 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781838601 CA10395883 |
432 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329035318 rs782122815 |
436 | K>T | No |
ClinGen Ensembl |
|
|
rs1569210636 CA412797331 |
438 | V>F | No |
ClinGen Ensembl |
|
|
rs782249223 CA412797378 |
440 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10395886 rs782249223 |
440 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329035332 rs888369922 |
443 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 444 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2070169 CA412797592 |
447 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1556789134 CA412797599 |
448 | Q>R | No |
ClinGen gnomAD |
|
|
CA10395901 rs782503672 |
453 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782820804 CA10395902 |
454 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412797817 rs1352099164 |
460 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA329035481 rs1024309483 |
464 | E>K | No |
ClinGen TOPMed |
|
|
CA412797948 rs1556789181 |
467 | G>C | No |
ClinGen gnomAD |
|
|
rs1602634648 CA412797971 |
468 | K>E | No |
ClinGen Ensembl |
|
|
CA10395906 rs781881573 |
469 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782466449 CA412798044 |
470 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1556789365 CA412798249 COSM252900 |
476 | A>V | ovary Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs782712220 CA10395921 |
478 | A>S | No |
ClinGen ExAC |
|
|
CA10395922 rs781786034 |
479 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412798522 rs1556789384 |
494 | C>S | No |
ClinGen gnomAD |
|
|
CA412798549 rs1556789396 |
495 | G>R | No |
ClinGen gnomAD |
|
|
rs1556789408 CA412798613 |
497 | G>V | No |
ClinGen Ensembl |
|
|
rs1556789412 CA412798653 |
500 | I>T | No |
ClinGen gnomAD |
|
|
CA10395926 rs782504397 |
501 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412799152 rs1218465518 |
524 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412799178 rs1556789432 |
525 | T>M | No |
ClinGen gnomAD |
|
|
CA10395971 rs782206544 |
526 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412801113 rs1556790765 |
531 | T>M | No |
ClinGen gnomAD |
|
|
CA412801149 rs1556790774 |
533 | A>V | No |
ClinGen gnomAD |
|
|
rs782377398 CA10395972 |
537 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs372418523 CA10395973 |
537 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372418523 CA412801230 |
537 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782407651 CA10395975 |
538 | Q>H | No |
ClinGen ExAC |
|
|
CA10395974 rs200383898 |
538 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556790797 CA412801326 |
542 | H>R | No |
ClinGen gnomAD |
|
|
rs1556790800 CA412801350 |
543 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556790814 CA412801532 |
551 | R>C | No |
ClinGen gnomAD |
|
|
rs782804501 CA412801947 |
565 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782460605 CA10395983 |
573 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868972727 CA412802272 |
581 | R>S | No |
ClinGen Ensembl |
|
|
CA10395998 rs782150444 |
584 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556791002 CA412802419 |
587 | R>C | No |
ClinGen gnomAD |
|
|
CA412802417 rs1556791002 |
587 | R>S | No |
ClinGen gnomAD |
|
|
rs782106589 CA10396001 |
589 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781870417 CA10396003 |
592 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412802524 rs1556791045 |
594 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556791071 CA412802624 |
598 | S>A | No |
ClinGen gnomAD |
|
|
CA10396007 rs782446441 |
603 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA329037506 rs1034005782 |
605 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 605 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556791109 CA412802820 |
609 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412802945 rs1556791119 |
616 | E>D | No |
ClinGen gnomAD |
|
|
rs1383263968 CA412803020 |
620 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 626 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412803218 rs1556791143 |
629 | I>V | No |
ClinGen gnomAD |
|
|
rs1556791146 CA412803260 |
631 | I>V | No |
ClinGen gnomAD |
|
|
CA10396012 rs782290695 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10396049 rs782489505 |
655 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA412806093 rs1556792717 |
658 | Q>H | No |
ClinGen gnomAD |
|
|
rs782648101 CA10396050 |
658 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1442351137 CA412806190 |
665 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA412806197 rs1556792726 |
666 | Y>H | No |
ClinGen gnomAD |
|
|
rs1556792730 CA412806228 |
668 | T>I | No |
ClinGen gnomAD |
|
|
rs782814899 CA10396071 |
673 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1556792825 CA412806455 |
678 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782447045 CA10396073 |
682 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10396076 rs782469773 |
686 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412806695 rs1556792847 |
692 | Q>H | No |
ClinGen gnomAD |
|
|
CA10396078 rs782707398 |
693 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412806707 rs1372895067 |
693 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1168710515 CA412806779 |
697 | L>V | No |
ClinGen TOPMed |
|
|
rs1556792877 CA412806814 |
699 | R>Q | No |
ClinGen gnomAD |
|
|
CA412806945 rs1556792891 |
707 | V>M | No |
ClinGen gnomAD |
|
|
CA412807031 rs1556792901 |
712 | H>Y | No |
ClinGen gnomAD |
|
|
CA412807123 rs1556792912 |
716 | T>I | No |
ClinGen gnomAD |
|
|
rs1196632577 CA412807142 |
717 | Q>P | No |
ClinGen TOPMed |
|
|
rs1556792929 CA412807218 |
721 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1556792931 CA412807259 COSM1269601 |
723 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 741 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940206548 CA329039540 |
751 | P>S | No |
ClinGen Ensembl |
|
|
CA412807923 rs1419994094 |
754 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10396092 rs782727078 |
758 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412808086 rs1408002480 |
759 | P>T | No |
ClinGen TOPMed |
|
|
CA412808284 rs1178361928 RCV000955070 |
770 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA412808365 rs1556793231 |
774 | Q>R | No |
ClinGen gnomAD |
|
|
rs1556793240 CA412808485 |
780 | G>V | No |
ClinGen gnomAD |
|
|
rs1556793243 CA412808506 |
781 | S>C | No |
ClinGen gnomAD |
|
|
rs1456751002 CA412808559 |
783 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10396111 rs377527446 |
789 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782694127 CA10396112 |
789 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA329039692 rs377527446 |
789 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782783104 CA10396115 |
794 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1468107 CA412808913 rs868958168 |
805 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1444784672 CA412809075 |
816 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10396118 rs371005753 |
817 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10396119 rs781800261 |
818 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10396120 rs782445749 |
819 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782604274 CA10396121 |
819 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556793309 CA412809123 |
820 | S>P | No |
ClinGen gnomAD |
|
|
rs782657351 CA10396140 |
825 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412809335 rs1556793767 |
830 | K>R | No |
ClinGen gnomAD |
|
|
CA412809353 rs1384682648 |
831 | A>V | No |
ClinGen TOPMed |
|
|
CA412809362 rs879988332 |
832 | T>S | No |
ClinGen Ensembl |
|
|
CA412809387 rs1303389675 |
835 | S>G | No |
ClinGen TOPMed |
|
|
CA412809416 rs1569217360 |
837 | D>N | No |
ClinGen Ensembl |
|
|
CA412809464 rs1556793782 |
840 | P>S | No |
ClinGen gnomAD |
|
|
rs782489376 CA10396145 |
841 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA412809504 rs1556793793 |
843 | K>Q | No |
ClinGen gnomAD |
|
|
rs1556793798 CA412809512 |
843 | K>R | No |
ClinGen gnomAD |
|
|
rs1419768943 CA412809584 |
848 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10396151 rs782321667 |
854 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs374003677 CA10396152 |
856 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1556793878 CA412809800 |
857 | F>L | No |
ClinGen gnomAD |
|
|
CA412809875 rs1423595377 |
863 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782437380 CA10396159 |
870 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10396160 rs782749176 |
876 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782524260 CA10396162 COSM1121746 |
880 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 885 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10396181 rs782556927 |
890 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10396182 rs782792773 |
891 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412810578 rs1556793983 |
892 | P>S | No |
ClinGen gnomAD |
|
|
CA412810663 rs1556793989 |
899 | A>G | No |
ClinGen gnomAD |
|
|
rs782619661 CA10396185 |
901 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781818505 CA10396186 |
905 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 911 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412810820 rs1556794027 |
913 | V>L | No |
ClinGen gnomAD |
|
|
CA412810844 rs1487402125 |
914 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10396190 rs782409785 |
917 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10396191 rs782576505 |
918 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224880996 CA412811074 |
934 | F>S | No |
ClinGen TOPMed |
|
|
CA10396196 rs782120956 |
938 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556794067 CA412811137 COSM1468109 |
942 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412811144 rs1333707504 |
942 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782687555 CA10396198 |
944 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412811189 rs1602659333 |
946 | Q>R | No |
ClinGen Ensembl |
|
|
rs781929195 CA10396217 |
948 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 949 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782091471 CA10396218 |
951 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782332191 CA10396219 |
956 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10396220 rs781997101 |
957 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA412811536 rs1556794528 |
965 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412811538 rs1556794533 |
965 | P>L | No |
ClinGen gnomAD |
|
|
rs376806437 CA329041056 |
966 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA412811552 rs1556794541 |
967 | G>A | No |
ClinGen gnomAD |
|
|
rs1466954749 CA412811595 |
970 | M>I | No |
ClinGen TOPMed |
|
|
rs1556794559 CA412811629 |
973 | K>E | No |
ClinGen gnomAD |
|
|
rs781890233 CA10396223 |
976 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569218853 CA412811685 |
977 | D>G | No |
ClinGen Ensembl |
|
|
rs200629777 CA10396226 |
977 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10396241 rs782276375 |
981 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782276375 CA412811782 |
981 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 985 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781921539 CA10396243 |
987 | I>M | No |
ClinGen ExAC |
|
|
CA10396246 rs781984124 |
994 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1556794660 CA412812118 |
1005 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1013 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556794723 CA412812315 |
1018 | I>T | No |
ClinGen gnomAD |
|
|
CA412812351 rs1423910714 |
1021 | R>C | No |
ClinGen TOPMed |
|
|
rs376319955 CA10396265 |
1021 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185350232 CA412812376 |
1023 | S>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1025 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10396267 rs147211127 |
1025 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA412812429 COSM1121748 rs1489105528 |
1029 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1286266010 CA412812430 |
1029 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA329041243 rs898122193 |
1031 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782077225 CA10396270 |
1032 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148694203 CA10396269 |
1032 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1035 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412812468 rs1322423075 |
1036 | L>F | No |
ClinGen TOPMed |
|
|
CA412812481 rs1292680390 |
1038 | L>V | No |
ClinGen TOPMed |
|
|
CA329041280 rs993848913 |
1040 | C>S | No |
ClinGen Ensembl |
|
|
CA412812515 rs782171722 |
1042 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782451807 CA10396276 |
1045 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412812536 rs1556794795 |
1046 | E>K | No |
ClinGen gnomAD |
|
|
rs1556794804 CA412812594 |
1054 | R>Q | No |
ClinGen gnomAD |
|
|
rs1556794810 CA412812617 |
1057 | I>M | No |
ClinGen gnomAD |
|
|
rs782624159 CA10396280 |
1058 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA329041330 rs374092856 |
1058 | R>H | No |
ClinGen ESP TOPMed |
2 associated diseases with P22314
[MIM: 301830]: Spinal muscular atrophy X-linked 2 (SMAX2)
A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. {ECO:0000269|PubMed:18179898, ECO:0000269|PubMed:23518311}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 301054]: VEXAS syndrome (VEXAS)
A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations. {ECO:0000269|PubMed:33108101}. Note=The disease is caused by variants affecting the gene represented in this entry. Somatic variants affecting the initiator methionine of isoform 2 are recurrently found in VEXAS patients. These variants cause loss of isoform 2 and production of a shorter isoform with strongly reduced enzymatic activity from a downstream methionine (Met-67). {ECO:0000269|PubMed:33108101}.
Without disease ID
- A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. {ECO:0000269|PubMed:18179898, ECO:0000269|PubMed:23518311}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations. {ECO:0000269|PubMed:33108101}. Note=The disease is caused by variants affecting the gene represented in this entry. Somatic variants affecting the initiator methionine of isoform 2 are recurrently found in VEXAS patients. These variants cause loss of isoform 2 and production of a shorter isoform with strongly reduced enzymatic activity from a downstream methionine (Met-67). {ECO:0000269|PubMed:33108101}.
Functions
| Description | ||
|---|---|---|
| EC Number | 6.2.1.45 | Acid--thiol ligases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin activating enzyme activity | Catalysis of the reaction: E1 + ubiquitin + ATP--> E1-ubiquitin + AMP + PPi, where the E1-ubiquitin linkage is a thioester bond between the C-terminal glycine of Ub and a sulfhydryl side group of an E1 cysteine residue. This is the first step in a cascade of reactions in which ubiquitin is ultimately added to a protein substrate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| protein modification by small protein conjugation | A protein modification process in which one or more groups of a small protein, such as ubiquitin or a ubiquitin-like protein, are covalently attached to a target protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| 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. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TBC4 | UBA3 | NEDD8-activating enzyme E1 catalytic subunit | Homo sapiens (Human) | PR |
| Q9UBT2 | UBA2 | SUMO-activating enzyme subunit 2 | Homo sapiens (Human) | PR |
| P31254 | Uba1y | Ubiquitin-like modifier-activating enzyme 1 Y | Mus musculus (Mouse) | PR |
| Q02053 | Uba1 | Ubiquitin-like modifier-activating enzyme 1 | Mus musculus (Mouse) | PR |
| Q5U300 | Uba1 | Ubiquitin-like modifier-activating enzyme 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSSPLSKKR | RVSGPDPKPG | SNCSPAQSVL | SEVPSVPTNG | MAKNGSEADI | DEGLYSRQLY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLGHEAMKRL | QTSSVLVSGL | RGLGVEIAKN | IILGGVKAVT | LHDQGTAQWA | DLSSQFYLRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDIGKNRAEV | SQPRLAELNS | YVPVTAYTGP | LVEDFLSGFQ | VVVLTNTPLE | DQLRVGEFCH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NRGIKLVVAD | TRGLFGQLFC | DFGEEMILTD | SNGEQPLSAM | VSMVTKDNPG | VVTCLDEARH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFESGDFVSF | SEVQGMVELN | GNQPMEIKVL | GPYTFSICDT | SNFSDYIRGG | IVSQVKVPKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISFKSLVASL | AEPDFVVTDF | AKFSRPAQLH | IGFQALHQFC | AQHGRPPRPR | NEEDAAELVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAQAVNARAL | PAVQQNNLDE | DLIRKLAYVA | AGDLAPINAF | IGGLAAQEVM | KACSGKFMPI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MQWLYFDALE | CLPEDKEVLT | EDKCLQRQNR | YDGQVAVFGS | DLQEKLGKQK | YFLVGAGAIG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CELLKNFAMI | GLGCGEGGEI | IVTDMDTIEK | SNLNRQFLFR | PWDVTKLKSD | TAAAAVRQMN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PHIRVTSHQN | RVGPDTERIY | DDDFFQNLDG | VANALDNVDA | RMYMDRRCVY | YRKPLLESGT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LGTKGNVQVV | IPFLTESYSS | SQDPPEKSIP | ICTLKNFPNA | IEHTLQWARD | EFEGLFKQPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ENVNQYLTDP | KFVERTLRLA | GTQPLEVLEA | VQRSLVLQRP | QTWADCVTWA | CHHWHTQYSN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NIRQLLHNFP | PDQLTSSGAP | FWSGPKRCPH | PLTFDVNNPL | HLDYVMAAAN | LFAQTYGLTG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SQDRAAVATF | LQSVQVPEFT | PKSGVKIHVS | DQELQSANAS | VDDSRLEELK | ATLPSPDKLP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GFKMYPIDFE | KDDDSNFHMD | FIVAASNLRA | ENYDIPSADR | HKSKLIAGKI | IPAIATTTAA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VVGLVCLELY | KVVQGHRQLD | SYKNGFLNLA | LPFFGFSEPL | AAPRHQYYNQ | EWTLWDRFEV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QGLQPNGEEM | TLKQFLDYFK | TEHKLEITML | SQGVSMLYSF | FMPAAKLKER | LDQPMTEIVS |
| 1030 | 1040 | 1050 | |||
| RVSKRKLGRH | VRALVLELCC | NDESGEDVEV | PYVRYTIR |