Q92466
PR
Gene name |
DDB2 |
Protein name |
DNA damage-binding protein 2 |
Names |
DDB p48 subunit, DDBb, Damage-specific DNA-binding protein 2, UV-damaged DNA-binding protein 2, UV-DDB 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1643 |
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
10 structures for Q92466
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EI4 | X-ray | 330 A | B/D/F | 10-427 | PDB |
| 3I7L | X-ray | 280 A | B | 68-81 | PDB |
| 4E54 | X-ray | 285 A | B | 2-427 | PDB |
| 4E5Z | X-ray | 322 A | B | 2-427 | PDB |
| 6R8Y | EM | 430 A | L | 1-427 | PDB |
| 6R8Z | EM | 390 A | L | 1-427 | PDB |
| 6R90 | EM | 450 A | L | 1-427 | PDB |
| 6R91 | EM | 410 A | L | 1-427 | PDB |
| 6R92 | EM | 480 A | L | 1-427 | PDB |
| AF-Q92466-F1 | Predicted | AlphaFoldDB |
301 variants for Q92466
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5972396 RCV002258135 RCV001104633 RCV002555027 rs373622283 RCV002555028 |
20 | R>K | Xeroderma pigmentosum, group E Xeroderma pigmentosum Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104635 rs770922074 CA5972463 |
85 | S>C | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293007 rs201703288 CA5972543 RCV000950762 |
171 | Q>E | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs760322280 CA5972545 RCV001107379 |
178 | E>A | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200406558 CA5972549 RCV000319017 |
193 | V>I | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA5972573 RCV000883949 rs4647750 RCV002259044 VAR_016337 |
215 | M>T | Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001268443 RCV002249484 rs1336484333 |
243 | K>* | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinVar dbSNP |
|
CA254554 VAR_010141 RCV000009332 rs121434639 |
244 | K>E | Xeroderma pigmentosum, group E XP-E; impairs DNA-binding of the UV-DDB complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA254556 RCV000009333 VAR_010142 rs121434640 |
273 | R>H | Xeroderma pigmentosum, group E Variant assessed as Somatic; 9.241e-05 impact. XP-E; impairs interaction with DDB1 and CUL4A [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000378472 rs761699363 CA5972656 |
302 | R>Q | Xeroderma pigmentosum, group E Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886048361 CA10639284 RCV000288705 |
305 | T>N | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121434642 CA254561 RCV000009335 |
307 | D>Y | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000009334 CA254558 rs121434641 |
313 | R>* | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776075728 CA5972672 RCV000384321 |
327 | I>F | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000402938 rs780665825 CA5972706 |
357 | P>L | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10638710 rs886048362 RCV000296495 |
394 | I>V | Xeroderma pigmentosum, group E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000861341 rs143049891 RCV000120630 RCV001102816 RCV002257417 CA158255 |
410 | A>T | Xeroderma pigmentosum, group E Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA380292258 rs1488799247 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA5972388 rs760606007 |
3 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452659395 CA380292285 |
6 | R>C | No |
ClinGen TOPMed |
|
|
CA5972389 rs369110013 |
7 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1429806876 CA380292290 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5972390 rs754254385 |
10 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762435826 CA5972391 |
11 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs889406597 CA221674767 |
14 | E>G | No |
ClinGen Ensembl |
|
|
rs1369427505 CA380292360 |
17 | L>F | No |
ClinGen gnomAD |
|
|
rs201229167 CA221674769 |
18 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs765557363 CA5972392 |
18 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs568689968 CA5972394 |
19 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs943544509 CA221674785 |
20 | R>G | No |
ClinGen gnomAD |
|
|
CA5972397 rs754405766 |
21 | N>K | No |
ClinGen ExAC |
|
| TCGA novel | 23 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380292411 rs1364947161 |
25 | R>S | No |
ClinGen TOPMed |
|
|
rs1294070379 CA380292413 |
26 | S>G | No |
ClinGen gnomAD |
|
|
rs780776638 CA5972399 |
26 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5972398 rs780776638 |
26 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148175447 CA380292419 |
27 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380292418 rs148175447 |
27 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972400 rs148175447 |
27 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972402 rs749034260 |
28 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216749191 CA380292438 |
30 | L>P | No |
ClinGen gnomAD |
|
|
rs1261825428 CA380292441 |
31 | E>Q | No |
ClinGen gnomAD |
|
|
rs770855579 CA5972403 |
33 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775814662 CA5972404 |
35 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972405 rs530733334 |
35 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368073045 CA221674847 |
38 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5972406 rs368073045 |
38 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5972407 rs776815495 |
41 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs772542105 CA221674852 |
41 | G>S | No |
ClinGen Ensembl |
|
|
rs1158186840 CA380292518 |
43 | G>R | No |
ClinGen gnomAD |
|
|
rs1158186840 CA380292519 |
43 | G>S | No |
ClinGen gnomAD |
|
|
CA221675407 rs141990819 |
44 | P>A | No |
ClinGen ESP |
|
|
CA380292560 rs1246600374 |
44 | P>H | No |
ClinGen gnomAD |
|
|
CA380292570 rs1487560828 |
45 | S>R | No |
ClinGen gnomAD |
|
|
CA380292574 rs1188341043 |
46 | R>T | No |
ClinGen gnomAD |
|
|
rs1169770870 CA380292589 |
48 | C>F | No |
ClinGen gnomAD |
|
|
CA5972447 rs535591210 |
48 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380292595 rs1590988136 |
49 | D>A | No |
ClinGen Ensembl |
|
|
CA380292606 rs1270242220 |
51 | D>N | No |
ClinGen TOPMed |
|
|
rs772355051 CA5972449 |
53 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380292628 rs1435735575 |
54 | W>R | No |
ClinGen TOPMed |
|
|
CA380292641 rs1590988146 |
55 | V>G | No |
ClinGen Ensembl |
|
|
rs150620642 CA5972450 |
56 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380292653 rs1325314989 |
58 | A>P | No |
ClinGen TOPMed |
|
|
rs1590988164 CA380292682 |
62 | I>T | No |
ClinGen Ensembl |
|
|
CA380292702 rs1275847261 |
66 | C>G | No |
ClinGen gnomAD |
|
|
CA5972454 rs568187738 |
66 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5972455 rs765161300 |
67 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139674102 CA5972456 |
67 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320417426 CA380292719 |
68 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758168272 CA5972457 |
69 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015435321 CA221675452 |
69 | I>V | No |
ClinGen TOPMed |
|
|
rs779731799 CA5972458 |
70 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5972459 rs199630230 |
73 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380292756 rs1191786171 |
74 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756368265 CA5972460 |
75 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5972461 rs777824005 |
75 | Q>R | No |
ClinGen ExAC |
|
|
CA380292770 rs1237953774 |
76 | H>Q | No |
ClinGen TOPMed |
|
|
CA380292768 rs1469238691 |
76 | H>R | No |
ClinGen TOPMed |
|
|
rs1473667722 CA380292789 |
79 | G>V | No |
ClinGen gnomAD |
|
|
rs1043766285 CA221675476 |
83 | W>C | No |
ClinGen Ensembl |
|
|
rs770922074 CA5972464 |
85 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407176076 CA380292851 |
86 | V>A | No |
ClinGen gnomAD |
|
|
rs1403530503 CA380292858 |
87 | Q>* | No |
ClinGen gnomAD |
|
|
CA5972473 rs750322138 |
92 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs762843794 CA5972474 |
93 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5972475 rs144729572 |
94 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144729572 CA380292986 |
94 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380293001 rs1414672544 |
95 | L>S | No |
ClinGen gnomAD |
|
|
CA380293026 rs1339083170 |
97 | T>A | No |
ClinGen gnomAD |
|
|
rs1188254502 CA380293046 |
99 | D>N | No |
ClinGen TOPMed |
|
|
CA5972476 rs751422435 |
100 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5972478 rs201842334 |
102 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756313355 CA5972477 |
102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380293102 rs1245937411 |
103 | I>M | No |
ClinGen TOPMed |
|
|
rs754091903 CA5972479 |
105 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5972481 CA5972480 rs541629437 |
106 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11537594 CA5972482 |
107 | A>S | No |
ClinGen ExAC |
|
|
CA158252 RCV000120629 rs11537594 |
107 | A>T | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs78651238 CA221675650 |
108 | A>G | No |
ClinGen Ensembl |
|
|
rs1276680137 CA380293159 |
108 | A>S | No |
ClinGen gnomAD |
|
|
CA380293172 rs1459835458 |
109 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380293176 rs1459835458 |
109 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780555193 CA5972484 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1439005331 CA380293258 |
117 | L>F | No |
ClinGen gnomAD |
|
|
CA5972486 rs769144378 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1478031995 CA380293268 |
119 | W>* | No |
ClinGen gnomAD |
|
|
CA5972488 rs747774067 |
119 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972489 rs769321481 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380293291 rs769321481 |
122 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5972490 rs772637982 |
123 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762943470 CA5972491 |
124 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA380293300 rs762943470 |
124 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766359606 CA5972492 |
126 | T>A | No |
ClinGen ExAC |
|
|
rs1565150473 CA380293316 |
126 | T>I | No |
ClinGen Ensembl |
|
|
CA380293320 rs1309579140 |
127 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767324814 CA5972495 |
127 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139968905 CA5972496 |
133 | G>A | No |
ClinGen ESP ExAC |
|
|
CA221675696 rs200856208 |
134 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1203265931 CA380293376 |
136 | I>T | No |
ClinGen gnomAD |
|
|
rs1273318303 CA380293425 |
143 | I>L | No |
ClinGen gnomAD |
|
|
CA5972498 rs765357628 |
145 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380293460 rs1429083605 |
147 | P>L | No |
ClinGen TOPMed |
|
|
CA380293464 rs750530703 |
148 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972499 rs750530703 |
148 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380293472 rs1264050439 |
149 | F>L | No |
ClinGen gnomAD |
|
|
rs1258455499 CA380293476 |
150 | I>F | No |
ClinGen gnomAD |
|
|
rs1258455499 CA380293475 |
150 | I>V | No |
ClinGen gnomAD |
|
|
CA380294874 rs1565155758 |
160 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748993672 CA5972539 |
166 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770406867 CA5972540 |
168 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778435738 CA5972541 |
170 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs778435738 CA5972542 |
170 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1211804433 CA380294959 |
173 | Y>N | No |
ClinGen gnomAD |
|
|
CA221685853 rs964277772 |
174 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380294974 rs1483143432 |
175 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5972544 rs775515178 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA380295031 rs1352688078 |
184 | Q>* | No |
ClinGen TOPMed |
|
|
CA380295034 rs1178168577 |
184 | Q>H | No |
ClinGen gnomAD |
|
|
rs977177948 CA221685875 |
184 | Q>P | No |
ClinGen Ensembl |
|
|
rs1405897737 CA380295051 |
186 | F>L | No |
ClinGen gnomAD |
|
|
CA5972546 rs768530307 |
188 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177088712 CA380295071 |
189 | N>S | No |
ClinGen gnomAD |
|
|
rs1419604751 CA380295084 |
191 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs199822504 CA5972547 |
192 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972548 rs763313431 COSM927366 |
192 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5972551 rs760106847 |
196 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA380295137 rs1297470860 |
197 | S>P | No |
ClinGen gnomAD |
|
|
rs1370580853 CA380295155 |
198 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767854150 CA5972552 |
199 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221686787 rs759622121 |
206 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1214298244 CA380295608 |
211 | A>S | No |
ClinGen gnomAD |
|
|
rs1271564145 CA380295625 |
213 | S>N | No |
ClinGen gnomAD |
|
|
CA5972571 rs144989465 |
214 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA221686804 rs370654581 |
214 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1271169145 CA380295647 |
217 | V>I | No |
ClinGen TOPMed |
|
|
rs754261384 CA5972574 |
218 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380295676 rs1264112339 |
221 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380295683 rs1445132521 |
222 | V>A | No |
ClinGen gnomAD |
|
|
rs764805641 CA5972576 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764805641 CA380295680 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962829260 CA221686843 |
223 | G>R | No |
ClinGen gnomAD |
|
|
CA221686846 rs201525567 |
224 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5972578 rs202083037 |
225 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380295708 rs1364408795 |
226 | I>M | No |
ClinGen gnomAD |
|
|
rs1270156043 CA380295714 |
228 | L>M | No |
ClinGen Ensembl |
|
|
CA5972581 rs755006840 |
230 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs779659936 CA5972579 |
230 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972580 rs139325563 |
230 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs779659936 CA380295728 |
230 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972584 rs149583624 |
231 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs930059864 CA221686926 |
231 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5972582 rs781117402 |
231 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5972587 rs772015549 |
232 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs774675310 CA5972586 |
232 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972585 rs774675310 |
232 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5972588 rs775705405 |
234 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591001061 CA380295793 |
238 | L>F | No |
ClinGen Ensembl |
|
|
CA5972612 rs762496558 |
240 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA221687094 rs151146343 |
246 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972615 rs151146343 |
246 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972617 rs767157750 |
249 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs879214671 CA221687133 |
253 | C>R | No |
ClinGen Ensembl |
|
|
CA5972619 rs756188946 |
256 | W>L | No |
ClinGen ExAC |
|
|
CA380295947 CA380295945 rs1347262190 |
257 | F>L | No |
ClinGen TOPMed |
|
|
CA221687134 rs879141362 |
261 | A>D | No |
ClinGen Ensembl |
|
|
CA5972620 rs540888883 |
263 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201259165 CA5972622 |
265 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201259165 CA5972621 |
265 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348203079 CA380296076 |
266 | T>R | No |
ClinGen gnomAD |
|
|
rs1591001138 CA380296167 |
271 | D>A | No |
ClinGen Ensembl |
|
|
rs747222465 CA5972624 |
273 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 275 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380296220 rs1308275397 |
275 | V>I | No |
ClinGen TOPMed |
|
|
rs781286785 CA5972625 |
276 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748644904 CA380296236 |
276 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748644904 CA5972626 |
276 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1480554006 CA380296292 |
280 | S>C | No |
ClinGen gnomAD |
|
|
CA380296299 rs1175198449 |
280 | S>N | No |
ClinGen gnomAD |
|
|
rs770341238 CA5972627 |
281 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434347416 CA380296336 |
282 | L>R | No |
ClinGen Ensembl |
|
|
CA380296346 rs1467471369 |
283 | Y>S | No |
ClinGen gnomAD |
|
|
rs773602928 CA5972628 |
284 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373044335 CA5972630 |
286 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145241266 CA5972632 |
288 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281536704 CA380296410 |
289 | H>Y | No |
ClinGen gnomAD |
|
|
rs767131311 CA5972633 |
290 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565156594 CA380296467 |
292 | N>T | No |
ClinGen Ensembl |
|
|
rs4647751 CA5972636 VAR_016338 |
293 | A>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs914567481 CA221687390 |
298 | P>L | No |
ClinGen Ensembl |
|
|
CA221687398 rs947377635 |
299 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs956960120 CA221687405 |
301 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776612511 CA380296702 |
302 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761699363 CA5972655 |
302 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776612511 CA5972654 |
302 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380296730 rs1369699705 |
304 | L>P | No |
ClinGen TOPMed |
|
|
rs979303679 CA221687446 |
306 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs752946218 CA5972661 |
308 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259738257 CA380296835 |
311 | E>K | No |
ClinGen gnomAD |
|
|
rs1022769202 CA221687492 |
313 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs375788966 CA5972664 |
316 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972666 rs779489467 |
318 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565156807 CA380296964 |
319 | Q>H | No |
ClinGen Ensembl |
|
|
rs370130760 CA5972667 |
319 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380297019 COSM927368 rs1237996732 |
322 | C>F | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs764224665 CA5972668 |
322 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA380297014 rs1237996732 |
322 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5972670 rs746711900 |
323 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1591001609 CA380297062 |
325 | G>A | No |
ClinGen Ensembl |
|
|
rs768184938 CA5972671 |
326 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5972673 rs145822896 |
328 | P>L | Variant assessed as Somatic; 4.683e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA380297113 rs1591001622 |
329 | H>P | No |
ClinGen Ensembl |
|
|
CA380297110 rs1591001619 |
329 | H>Y | No |
ClinGen Ensembl |
|
|
rs1221296817 CA380297125 |
330 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380297136 rs1451839702 |
331 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1334530004 CA380297155 |
332 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5972675 rs760495922 |
332 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305901484 CA380297174 |
333 | H>Q | No |
ClinGen gnomAD |
|
|
rs1314761808 CA380297185 |
335 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 339 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221687631 rs959935406 |
340 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5972678 rs752893080 |
340 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5972697 rs764157011 |
345 | H>Q | No |
ClinGen ExAC |
|
|
CA380297810 rs1169576659 |
345 | H>Y | No |
ClinGen gnomAD |
|
|
CA5972698 rs376083611 |
347 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5972699 rs761752334 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765459672 CA5972700 |
348 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5972701 rs750932875 |
350 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1281033732 CA380297844 |
350 | L>P | No |
ClinGen TOPMed |
|
|
CA221689020 rs1049650357 |
352 | V>I | No |
ClinGen Ensembl |
|
|
CA380297899 rs1337293467 |
353 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1214499394 CA380297912 |
355 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751910498 CA5972704 |
355 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755370586 CA5972705 |
356 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1361706773 CA380297919 |
356 | Y>C | No |
ClinGen gnomAD |
|
|
CA380297924 rs1389115056 |
357 | P>S | No |
ClinGen TOPMed |
|
|
rs1218999718 CA380297984 |
365 | T>N | No |
ClinGen gnomAD |
|
|
rs747856764 CA5972707 |
366 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs777303306 CA5972709 |
368 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5972710 rs753931064 COSM927369 |
371 | T>M | endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs567082210 CA5972713 |
373 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148299549 CA5972714 |
374 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM256744 CA5972716 rs375649516 |
376 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1246878772 CA380298093 |
381 | K>N | No |
ClinGen gnomAD |
|
|
rs750593401 CA5972718 |
382 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750593401 CA380298097 |
382 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221689148 rs895752490 |
383 | M>T | No |
ClinGen Ensembl |
|
|
rs763142457 CA5972719 |
385 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766922655 CA5972720 |
386 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380298243 rs1461174803 |
394 | I>T | No |
ClinGen TOPMed |
|
|
rs755246751 CA5972722 |
395 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5972723 rs781655324 |
396 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM429051 CA380298272 rs781655324 |
396 | S>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 397 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221689264 COSM4165798 rs891434158 |
403 | M>T | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1156417125 CA380298420 |
404 | G>V | No |
ClinGen gnomAD |
|
|
rs1185811620 CA380298424 |
405 | D>H | No |
ClinGen TOPMed |
|
|
CA380298445 rs1431945606 |
406 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1411796870 CA380298457 |
408 | A>T | No |
ClinGen gnomAD |
|
|
CA380298469 rs1352346903 |
409 | S>T | No |
ClinGen TOPMed |
|
|
rs1440292566 CA380298486 |
410 | A>V | No |
ClinGen gnomAD |
|
|
CA221689288 rs1018636900 |
411 | M>I | No |
ClinGen Ensembl |
|
|
CA5972741 rs767767775 |
411 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380298503 rs1347183916 |
412 | G>S | No |
ClinGen gnomAD |
|
|
rs1025078387 CA221689783 |
412 | G>V | No |
ClinGen Ensembl |
|
|
CA5972762 rs760979102 |
420 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA380298703 rs1279743946 |
424 | R>W | No |
ClinGen TOPMed |
|
|
rs773828524 CA5972763 |
426 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218896761 CA380298722 |
426 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA380298726 rs1383685130 |
427 | K>E | No |
ClinGen gnomAD |
|
|
COSM239534 CA221689836 rs77897070 |
427 | K>N | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
1 associated diseases with Q92466
[MIM: 278740]: Xeroderma pigmentosum complementation group E (XP-E)
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. {ECO:0000269|PubMed:8798680}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. {ECO:0000269|PubMed:8798680}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q92466
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 100 - 140 | IPR001680-1 |
| repeat | WD40 repeat | 144 - 185 | IPR001680-2 |
| repeat | WD40 repeat | 187 - 229 | IPR001680-3 |
| repeat | WD40 repeat | 231 - 280 | IPR001680-4 |
| repeat | WD40 repeat | 278 - 316 | IPR001680-5 |
| conserved_site | WD40 repeat, conserved site | 258 - 272 | IPR019775 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| 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. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| damaged DNA binding | Binding to damaged DNA. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| protein-containing complex binding | Binding to a macromolecular complex. |
10 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. |
| 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. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| histone H2A monoubiquitination | The modification of histone H2A by addition of a single ubiquitin group. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| pyrimidine dimer repair | The repair of UV-induced T-T, C-T and C-C dimers. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (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. |
| 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). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0VBY8 | DDB2 | DNA damage-binding protein 2 | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPKKRPETQ | KTSEIVLRPR | NKRSRSPLEL | EPEAKKLCAK | GSGPSRRCDS | DCLWVGLAGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QILPPCRSIV | RTLHQHKLGR | ASWPSVQQGL | QQSFLHTLDS | YRILQKAAPF | DRRATSLAWH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PTHPSTVAVG | SKGGDIMLWN | FGIKDKPTFI | KGIGAGGSIT | GLKFNPLNTN | QFYASSMEGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TRLQDFKGNI | LRVFASSDTI | NIWFCSLDVS | ASSRMVVTGD | NVGNVILLNM | DGKELWNLRM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HKKKVTHVAL | NPCCDWFLAT | ASVDQTVKIW | DLRQVRGKAS | FLYSLPHRHP | VNAACFSPDG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ARLLTTDQKS | EIRVYSASQW | DCPLGLIPHP | HRHFQHLTPI | KAAWHPRYNL | IVVGRYPDPN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FKSCTPYELR | TIDVFDGNSG | KMMCQLYDPE | SSGISSLNEF | NPMGDTLASA | MGYHILIWSQ |
| EEARTRK |