Q13620
PR
Gene name |
CUL4B |
Protein name |
Cullin-4B |
Names |
CUL-4B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8450 |
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
Autoinhibited structure
Activated structure
264 variants for Q13620
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs149016283 RCV002059696 RCV000417477 RCV001572672 CA10505805 RCV002436312 |
9 | G>E | X-linked intellectual disability Cabezas type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145808703 RCV000608920 CA10505798 RCV002060618 |
22 | G>D | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330207 rs1925231122 |
33 | A>T | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232844 rs1199433297 |
36 | Q>R | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558589 CA10505743 rs757541076 |
39 | R>S | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA358848 rs869320682 RCV000190825 |
50 | P>L | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10505736 RCV001394022 rs145134351 |
65 | S>G | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755306871 RCV000532515 CA10505718 RCV001252215 |
116 | Q>H | Intellectual disability X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001547950 rs760294805 RCV000640926 CA10505713 RCV002360568 |
125 | L>V | X-linked intellectual disability Cabezas type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001045420 RCV000599361 rs754330779 |
144 | S>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640928 rs754330779 RCV001467101 |
146 | S>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482779 rs754330779 RCV002329150 |
146 | S>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_032273 CA10505669 rs763692058 |
213 | T>I | MRXSC; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV002531888 RCV000622687 CA414201094 rs1556220623 |
259 | Q>* | X-linked intellectual disability Cabezas type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000224848 rs878853152 |
271 | Q>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10505615 RCV000800231 rs367660624 |
315 | V>I | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1924258472 RCV001267287 |
319 | S>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1085307760 RCV000489216 RCV000590902 |
336 | I>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001771869 RCV000640927 rs1556214312 |
337 | I>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1924204795 RCV001089951 |
350 | I>T | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546039 rs1556213268 CA414198602 |
387 | Q>R | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121434616 CA214662 RCV000415116 RCV000012092 |
388 | R>* | Global developmental delay X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624631 CA414198338 rs1556213001 |
407 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002517928 CA207283 RCV000193656 rs750866615 |
419 | K>Q | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1260356990 RCV000624786 CA414198128 |
420 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000503200 rs757649304 RCV002383965 CA10505554 RCV001857088 |
455 | A>T | X-linked intellectual disability Cabezas type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000990935 rs1602577238 |
480 | F>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824885 rs905353542 CA414197180 |
484 | R>* | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1556206910 RCV000627044 |
487 | V>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1924000101 RCV001253208 |
494 | W>* | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330206 rs1923920343 |
548 | F>L | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333139 rs1923919394 |
551 | F>C | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012091 CA214661 rs121434615 VAR_032274 RCV001564415 |
572 | R>C | X-linked intellectual disability Cabezas type MRXSC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057519396 RCV000417055 |
579 | T>missing | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056755 rs1923849803 RCV001759806 |
598 | Y>H | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622547 rs1556196865 CA414194921 |
699 | P>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_032275 | 745 | V>A | MRXSC [UniProt] | Yes | UniProt |
|
RCV000515477 rs1556181426 CA414192914 COSM1114084 |
859 | K>N | X-linked intellectual disability Cabezas type endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1602567594 RCV003128422 RCV001008097 |
864 | L>missing | CUL4B-Related Disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000502107 CA414192225 rs1556173896 |
896 | R>Q | Pettigrew syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001725875 CA10505392 rs768424127 |
902 | D>E | X-linked intellectual disability Cabezas type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10505808 RCV000711341 rs764061992 |
5 | S>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10505807 rs757896094 |
7 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs753941445 CA10505806 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760941322 CA10505804 |
10 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA414207274 rs1420481261 |
17 | T>I | No |
ClinGen gnomAD |
|
|
rs200034623 CA10505801 |
18 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200034623 CA414207269 |
18 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10505800 rs774862000 |
19 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472807836 CA414206328 |
26 | S>P | No |
ClinGen gnomAD |
|
|
rs1569396609 CA414206326 |
26 | S>Y | No |
ClinGen Ensembl |
|
|
rs1250723216 CA414206310 |
28 | S>R | No |
ClinGen gnomAD |
|
|
rs1270698545 CA414206307 |
29 | P>S | No |
ClinGen gnomAD |
|
|
CA414206286 rs1179229247 |
32 | A>V | No |
ClinGen gnomAD |
|
|
CA10505745 rs781117807 |
35 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414206263 rs1199433297 |
36 | Q>L | No |
ClinGen gnomAD |
|
|
rs780240866 CA10505742 |
41 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764241197 CA10505741 |
46 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10505740 rs758781480 |
47 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569396573 CA414206188 RCV000711342 |
48 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1273403067 CA414206185 |
48 | T>S | No |
ClinGen TOPMed |
|
|
CA334131763 rs1056086920 |
64 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1411137243 CA414206063 |
66 | S>G | No |
ClinGen gnomAD |
|
|
rs1285124738 CA414206041 |
68 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10505734 rs368960674 |
71 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1368723049 CA414206011 |
72 | E>D | No |
ClinGen gnomAD |
|
|
CA10505733 rs760207253 |
75 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA414205991 rs760207253 |
75 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1186348723 CA414205992 |
75 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414205948 rs1249285278 |
81 | S>F | No |
ClinGen gnomAD |
|
|
CA414205914 rs1464895451 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA334131690 rs931341712 |
87 | P>S | No |
ClinGen Ensembl |
|
|
COSM1114162 CA10505729 rs747997744 |
93 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA414205823 rs1367442039 |
95 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA414205767 rs1434440226 |
100 | S>Y | No |
ClinGen gnomAD |
|
|
CA10505726 rs749176803 |
101 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs61759504 VAR_032272 CA334131648 |
103 | L>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA334131643 rs61759504 |
103 | L>R | No |
ClinGen Ensembl |
|
|
CA10505723 rs374556865 |
104 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777998150 CA10505722 |
109 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs758583238 CA10505721 |
110 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414205622 rs1168616770 |
113 | V>A | No |
ClinGen TOPMed |
|
|
CA10505720 rs753168322 |
113 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391627547 CA414205608 |
114 | P>L | No |
ClinGen gnomAD |
|
|
rs779144333 CA10505719 |
115 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773773171 CA414205599 |
115 | I>T | No |
ClinGen TOPMed |
|
|
RCV000711344 rs996678112 |
115 | I>missing | No |
ClinVar dbSNP |
|
|
rs773773171 CA334131586 |
115 | I>K | No |
ClinGen TOPMed |
|
|
CA414205593 rs1351973708 |
116 | Q>E | No |
ClinGen TOPMed |
|
|
CA10505714 rs376690955 |
121 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1344648066 CA414205487 |
124 | T>N | No |
ClinGen gnomAD |
|
|
CA10505710 rs761544255 |
129 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs969827040 CA334131540 |
132 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1438453163 CA414205391 |
132 | A>P | No |
ClinGen gnomAD |
|
|
rs969827040 CA414205387 |
132 | A>V | No |
ClinGen TOPMed |
|
|
CA10505709 rs774268469 |
136 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10505708 rs768338680 |
138 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1355562059 CA414205288 |
140 | S>F | No |
ClinGen TOPMed |
|
|
CA334131511 rs966263700 |
142 | S>F | No |
ClinGen TOPMed |
|
|
rs747127577 CA10505699 |
153 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA16043210 RCV000414616 rs1057518039 |
159 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA414205050 rs1193283414 |
160 | K>T | No |
ClinGen TOPMed |
|
|
rs777805257 CA10505698 |
162 | I>M | No |
ClinGen ExAC |
|
|
rs1193428618 CA414204990 |
165 | S>F | No |
ClinGen gnomAD |
|
|
rs1478679885 CA414204912 |
173 | A>T | No |
ClinGen gnomAD |
|
|
CA414204838 rs1246620519 |
180 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1197771480 CA414204831 |
181 | T>A | No |
ClinGen gnomAD |
|
|
rs772350641 CA10505697 |
182 | T>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1202687 rs1556243058 RCV000519937 CA414204808 |
183 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs748328122 CA10505696 |
184 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1280745901 CA414204766 |
187 | A>V | No |
ClinGen gnomAD |
|
|
CA414204750 rs1602590332 |
189 | S>G | No |
ClinGen Ensembl |
|
|
CA10505692 rs372899130 |
192 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1314870085 CA414203714 |
205 | K>E | No |
ClinGen gnomAD |
|
|
rs756739337 CA334130567 |
207 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10505671 rs756739337 |
207 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758043399 CA10505668 |
214 | D>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000355890 rs886043788 CA10605948 |
218 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1204877849 CA414203391 |
224 | V>M | No |
ClinGen gnomAD |
|
|
CA16043171 RCV000413836 rs1057518220 |
229 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057518443 RCV000414185 CA16043170 |
229 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10505667 rs752543393 |
234 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA414201215 rs1602581542 |
249 | S>F | No |
ClinGen Ensembl |
|
|
rs775787840 CA10505656 |
252 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414201175 rs1236809578 |
253 | S>A | No |
ClinGen TOPMed |
|
|
rs1289112863 CA414201152 |
255 | N>D | No |
ClinGen gnomAD |
|
|
CA334126309 rs376833926 |
258 | K>R | No |
ClinGen ESP |
|
|
rs946058527 CA334126304 |
263 | I>S | No |
ClinGen gnomAD |
|
|
rs868232089 CA334126301 |
267 | H>Y | No |
ClinGen Ensembl |
|
|
rs757749038 CA10505652 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10505650 rs752363861 |
273 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10505648 rs752363861 |
273 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752363861 CA10505649 |
273 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM160281 rs1363985514 CA414200828 |
276 | R>T | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1444225978 CA414200684 |
278 | D>V | No |
ClinGen TOPMed |
|
|
rs1480002870 CA414200633 |
281 | D>E | No |
ClinGen gnomAD |
|
|
CA414200648 rs1177022477 |
281 | D>N | No |
ClinGen gnomAD |
|
|
rs1413717127 CA414200624 |
282 | S>N | No |
ClinGen gnomAD |
|
|
rs1183907853 CA414200607 |
283 | V>I | No |
ClinGen gnomAD |
|
|
rs747542578 CA414200581 |
284 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747542578 CA10505632 |
284 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10505631 rs778087213 |
285 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1321860490 CA414200475 |
290 | D>H | No |
ClinGen gnomAD |
|
|
CA414200186 rs1341162824 |
301 | I>L | No |
ClinGen TOPMed |
|
|
CA10505616 rs752130919 |
304 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000498573 rs1556216330 |
308 | L>missing | No |
ClinVar dbSNP |
|
|
COSM1114132 rs866840262 CA334125510 |
312 | R>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1314542811 CA414199947 |
313 | T>I | No |
ClinGen gnomAD |
|
|
CA334125458 rs904900765 |
320 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1401095244 CA414199785 |
322 | P>L | No |
ClinGen gnomAD |
|
|
rs1322410640 CA414199792 |
322 | P>S | No |
ClinGen gnomAD |
|
|
CA10505608 rs768363837 |
327 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs61754550 CA10505607 |
327 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414199596 rs1295817601 |
329 | L>Q | No |
ClinGen TOPMed |
|
|
CA10505605 rs755958060 |
334 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414199492 rs750144966 |
335 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs750144966 COSM456636 CA10505604 |
335 | H>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1406854879 CA414199447 |
337 | I>V | No |
ClinGen gnomAD |
|
|
rs757235110 CA10505602 |
338 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1422238078 CA414199217 |
350 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414199036 rs1169004024 |
359 | N>D | No |
ClinGen gnomAD |
|
|
CA10505600 rs765400948 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414198937 rs1243051518 |
365 | R>T | No |
ClinGen TOPMed |
|
|
CA334125081 rs1011062956 |
384 | S>C | No |
ClinGen Ensembl |
|
|
rs748696316 CA10505588 |
387 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1403403199 CA414198525 |
393 | T>A | No |
ClinGen TOPMed |
|
|
CA414198493 rs1428134213 |
395 | R>Q | No |
ClinGen gnomAD |
|
|
rs912042227 COSM365536 CA334125061 |
395 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1300720472 CA414198383 |
404 | L>S | No |
ClinGen TOPMed |
|
|
CA10505585 rs780633963 |
407 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1114117 rs151254898 CA334124984 |
415 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA334124973 rs1039073609 |
418 | N>D | No |
ClinGen TOPMed |
|
|
CA10505575 rs767875072 |
419 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1260356990 CA414198126 |
420 | R>C | No |
ClinGen TOPMed |
|
|
CA414198118 rs1477800597 |
421 | L>I | No |
ClinGen TOPMed |
|
|
CA414198093 rs1239216671 |
423 | E>Q | No |
ClinGen gnomAD |
|
|
rs1204382870 CA414198044 |
426 | D>G | No |
ClinGen gnomAD |
|
|
rs763781389 CA10505574 |
429 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774860011 CA10505573 |
429 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414197470 rs1255275053 |
442 | A>V | No |
ClinGen TOPMed |
|
|
rs889440718 CA334124626 |
443 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761899724 CA334124603 |
450 | G>D | No |
ClinGen Ensembl |
|
|
CA334124600 rs865808660 |
452 | H>Y | No |
ClinGen Ensembl |
|
|
CA10605833 RCV000260261 rs886043694 |
453 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA414197386 rs1156313853 |
456 | I>V | No |
ClinGen TOPMed |
|
|
rs773131729 CA10505544 |
462 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA10505543 rs772114630 |
463 | N>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000760621 rs1569390220 CA414197281 |
469 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs748040218 CA10505542 |
477 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA414197217 rs1213214846 |
478 | Q>H | No |
ClinGen gnomAD |
|
|
rs188531002 CA10505541 |
482 | R>K | No |
ClinGen 1000Genomes ExAC |
|
|
COSM1114114 CA414197179 rs1172227126 |
484 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs780015369 CA10505540 |
487 | V>I | No |
ClinGen ExAC |
|
|
CA334124152 rs267606335 |
490 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1297543201 CA414197053 |
500 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760403327 CA10505528 |
505 | I>V | No |
ClinGen ExAC |
|
|
CA414196882 rs1556204126 RCV000521750 |
524 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1375607195 CA414196847 |
529 | I>V | No |
ClinGen gnomAD |
|
|
rs761622877 CA10505525 |
544 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA414196658 rs1463085776 |
554 | K>R | No |
ClinGen gnomAD |
|
|
rs1360202637 CA414195867 |
573 | A>T | No |
ClinGen gnomAD |
|
|
rs1382555486 CA414195708 |
593 | I>M | No |
ClinGen gnomAD |
|
|
rs774172669 CA10505506 |
593 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10505493 rs372816351 |
607 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414195565 rs1408398367 |
611 | L>S | No |
ClinGen TOPMed |
|
|
CA414195545 RCV000501059 rs1556200641 |
614 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064794800 CA16621194 RCV000479459 |
614 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1346994940 CA414195524 |
618 | G>R | No |
ClinGen gnomAD |
|
|
CA334123081 rs868357565 |
633 | L>P | No |
ClinGen Ensembl |
|
|
RCV000504184 CA414195370 rs1556199349 |
638 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769166770 CA10505479 COSM1114105 |
642 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs866657955 CA334122816 |
643 | S>N | No |
ClinGen Ensembl |
|
|
RCV000484545 CA16621193 rs1064796215 |
662 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA334122772 rs749311084 |
664 | Q>K | No |
ClinGen 1000Genomes |
|
|
CA334122770 rs866016207 |
664 | Q>R | No |
ClinGen Ensembl |
|
|
RCV001009093 rs1602573558 |
665 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1402727679 CA414195146 |
667 | Q>E | No |
ClinGen gnomAD |
|
|
CA414195124 rs1226768720 |
669 | Q>H | No |
ClinGen TOPMed |
|
|
rs1602573545 CA414195103 |
672 | P>L | No |
ClinGen Ensembl |
|
|
rs1158118996 CA414195092 |
674 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437852174 CA414195084 |
675 | I>T | No |
ClinGen gnomAD |
|
|
CA414194993 rs1185272311 |
688 | P>L | No |
ClinGen gnomAD |
|
|
rs1236738904 CA414194980 |
690 | Y>C | No |
ClinGen gnomAD |
|
|
rs768970682 CA10505462 |
693 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10505460 rs775982228 |
698 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1164275270 CA414194895 |
701 | M>V | No |
ClinGen gnomAD |
|
|
rs61752965 CA334122009 |
718 | G>D | No |
ClinGen Ensembl |
|
|
rs61752965 CA334121998 |
718 | G>V | No |
ClinGen Ensembl |
|
|
CA10505446 rs753840169 |
720 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10505445 rs766188101 |
721 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA414194721 rs1486703190 |
725 | S>A | No |
ClinGen gnomAD |
|
|
CA10505444 rs761994963 |
726 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17853573 CA334121990 |
727 | L>I | No |
ClinGen Ensembl |
|
|
RCV001268869 rs1923640463 |
732 | L>missing | No |
ClinVar dbSNP |
|
|
CA334121988 rs867783098 |
738 | E>K | No |
ClinGen Ensembl |
|
|
RCV000256159 rs886039718 |
748 | F>missing | No |
ClinVar dbSNP |
|
|
CA414194447 rs1270567496 |
763 | S>G | No |
ClinGen gnomAD |
|
|
CA414194418 rs1475522827 |
766 | E>D | No |
ClinGen TOPMed |
|
|
rs867628150 CA334120815 |
774 | E>D | No |
ClinGen Ensembl |
|
|
CA414194262 rs755600927 |
775 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10505419 rs755600927 |
775 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10505416 rs766965938 |
779 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA414194172 rs1197164635 |
781 | T>I | No |
ClinGen gnomAD |
|
|
CA10505414 rs773655024 |
794 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414193986 rs1329561871 |
796 | N>K | No |
ClinGen gnomAD |
|
|
rs918038835 CA334120782 |
797 | P>T | No |
ClinGen Ensembl |
|
|
rs1392017683 CA414193914 |
802 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA414193879 rs1315553102 |
804 | D>G | No |
ClinGen TOPMed |
|
|
rs1219887351 CA414193850 |
807 | K>E | No |
ClinGen TOPMed |
|
|
rs1202066576 CA414193591 |
824 | N>S | No |
ClinGen gnomAD |
|
|
CA414193485 rs1482154489 |
831 | T>M | No |
ClinGen gnomAD |
|
|
rs752793334 CA10505402 |
836 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1444545733 CA414192997 |
848 | Y>H | No |
ClinGen gnomAD |
|
|
CA414192954 rs1334613409 |
854 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414192856 rs1399633418 |
867 | N>S | No |
ClinGen gnomAD |
|
|
rs1419796305 CA414192821 |
872 | E>D | No |
ClinGen gnomAD |
|
|
CA10505401 rs765543535 |
873 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414192803 rs1156304104 |
875 | N>S | No |
ClinGen gnomAD |
|
|
rs1400305542 CA414192317 |
883 | P>T | No |
ClinGen gnomAD |
|
|
rs1233659334 CA414192265 |
890 | I>T | No |
ClinGen TOPMed |
|
|
rs868818562 CA334118126 |
893 | L>V | No |
ClinGen Ensembl |
|
|
rs1257568293 CA414192226 |
896 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000414203 rs1057518598 |
897 | D>missing | No |
ClinVar dbSNP |
|
|
RCV000782025 CA414192135 rs1569385075 |
908 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
1 associated diseases with Q13620
[MIM: 300354]: Intellectual developmental disorder, X-linked, syndromic, Cabezas type (MRXSC)
A syndromic form of X-linked intellectual disability characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. {ECO:0000269|PubMed:17236139, ECO:0000269|PubMed:17273978, ECO:0000269|PubMed:19377476, ECO:0000269|PubMed:20002452}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndromic form of X-linked intellectual disability characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. {ECO:0000269|PubMed:17236139, ECO:0000269|PubMed:17273978, ECO:0000269|PubMed:19377476, ECO:0000269|PubMed:20002452}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul4-RING E3 ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein. |
| Cul4A-RING E3 ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul4A subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein. |
| Cul4B-RING E3 ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul4B subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by unknown subunits. |
| cullin-RING ubiquitin ligase complex | Any ubiquitin ligase complex in which the catalytic core consists of a member of the cullin family and a RING domain protein; the core is associated with one or more additional proteins that confer substrate specificity. |
| 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. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| astrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an astrocyte. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| 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. |
| cellular response to UV | 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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| histone H2A monoubiquitination | The modification of histone H2A by addition of a single ubiquitin group. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| proteasomal protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| ribosome biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. |
| SCF-dependent proteasomal 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 ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome. |
| UV-damage excision repair | A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q13616 | CUL1 | Cullin-1 | Homo sapiens (Human) | PR |
| Q13619 | CUL4A | Cullin-4A | Homo sapiens (Human) | PR |
| Q3TCH7 | Cul4a | Cullin-4A | Mus musculus (Mouse) | PR |
| A2A432 | Cul4b | Cullin-4B | Mus musculus (Mouse) | PR |
| Q17392 | cul-4 | Cullin-4 | Caenorhabditis elegans | PR |
| P0CH31 | At1g43140 | Putative cullin-like protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMSQSSGSGD | GNDDEATTSK | DGGFSSPSPS | AAAAAQEVRS | ATDGNTSTTP | PTSAKKRKLN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSSSSSSNSS | NEREDFDSTS | SSSSTPPLQP | RDSASPSTSS | FCLGVSVAAS | SHVPIQKKLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEDTLEFVGF | DAKMAEESSS | SSSSSSPTAA | TSQQQQLKNK | SILISSVASV | HHANGLAKSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTVSSFANSK | PGSAKKLVIK | NFKDKPKLPE | NYTDETWQKL | KEAVEAIQNS | TSIKYNLEEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YQAVENLCSY | KISANLYKQL | RQICEDHIKA | QIHQFREDSL | DSVLFLKKID | RCWQNHCRQM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMIRSIFLFL | DRTYVLQNSM | LPSIWDMGLE | LFRAHIISDQ | KVQNKTIDGI | LLLIERERNG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EAIDRSLLRS | LLSMLSDLQI | YQDSFEQRFL | EETNRLYAAE | GQKLMQEREV | PEYLHHVNKR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEEEADRLIT | YLDQTTQKSL | IATVEKQLLG | EHLTAILQKG | LNNLLDENRI | QDLSLLYQLF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRVRGGVQVL | LQQWIEYIKA | FGSTIVINPE | KDKTMVQELL | DFKDKVDHII | DICFLKNEKF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| INAMKEAFET | FINKRPNKPA | ELIAKYVDSK | LRAGNKEATD | EELEKMLDKI | MIIFRFIYGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DVFEAFYKKD | LAKRLLVGKS | ASVDAEKSML | SKLKHECGAA | FTSKLEGMFK | DMELSKDIMI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QFKQYMQNQN | VPGNIELTVN | ILTMGYWPTY | VPMEVHLPPE | MVKLQEIFKT | FYLGKHSGRK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LQWQSTLGHC | VLKAEFKEGK | KELQVSLFQT | LVLLMFNEGE | EFSLEEIKQA | TGIEDGELRR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TLQSLACGKA | RVLAKNPKGK | DIEDGDKFIC | NDDFKHKLFR | IKINQIQMKE | TVEEQASTTE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RVFQDRQYQI | DAAIVRIMKM | RKTLSHNLLV | SEVYNQLKFP | VKPADLKKRI | ESLIDRDYME |
| 910 | |||||
| RDKENPNQYN | YIA |