XP-E
MCID: XRD021
MIFTS: 45

Xeroderma Pigmentosum, Complementation Group E (XP-E)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group E

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group E:

Name: Xeroderma Pigmentosum, Complementation Group E 57 54 39 70
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype 57 29 13 6
Xeroderma Pigmentosum V 57 72 6
Xp5 57 72
Xeroderma Pigmentosum Complementation Group E 72
Xeroderma Pigmentosum, Type 5 73
Xeroderma Pigmentosum V; Xp5 57
Xp, Group E 57
Xp Group E 72
Xp-E 72
Xpe 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
xeroderma pigmentosum, complementation group e:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group E

UniProtKB/Swiss-Prot : 72 Xeroderma pigmentosum complementation group 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.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group E, also known as xeroderma pigmentosum, group e, ddb-negative subtype, is related to xeroderma pigmentosum, complementation group a and xeroderma pigmentosum group e. An important gene associated with Xeroderma Pigmentosum, Complementation Group E is DDB2 (Damage Specific DNA Binding Protein 2), and among its related pathways/superpathways are Vesicle-mediated transport and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, and related phenotypes are photophobia and melanoma

Wikipedia : 73 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

More information from OMIM: 278740

Related Diseases for Xeroderma Pigmentosum, Complementation Group E

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum, Complementation Group B

Diseases related to Xeroderma Pigmentosum, Complementation Group E via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 30.7 XPC XPA DDB2 DDB1
2 xeroderma pigmentosum group e 30.6 XPC XPA RBX1 ERCC5 DDB2 DDB1
3 xeroderma pigmentosum, variant type 29.7 XPC XPA ERCC5 DDB2 DDB1 CUL4A
4 uv-sensitive syndrome 28.6 XPC XPA RBX1 ERCC5 DDB2 DDB1
5 cockayne syndrome 27.5 XPC XPA RBX1 ERCC5 DDB2 DDB1
6 uv-sensitive syndrome 3 10.3
7 autosomal recessive disease 10.3
8 skin carcinoma 10.3
9 48,xyyy 9.9
10 familial hypertension 9.7 RBX1 COPS8
11 xfe progeroid syndrome 9.7 XPA ERCC5
12 mutagen sensitivity 9.7 XPC XPA
13 xeroderma pigmentosum, complementation group f 9.6 XPA ERCC5 DDB2
14 autosomal recessive non-syndromic intellectual disability 9.6 RBX1 DDB1 CUL4A COPS8
15 smith-magenis syndrome 9.5 RBX1 COPS8 COPS3
16 trichothiodystrophy 9.5 XPC XPA ERCC5
17 xeroderma pigmentosum, complementation group c 9.4 XPC XPA DDB2 DDB1 CUL4A
18 cockayne syndrome a 9.4 XPA GPS1 ERCC5 DDB1
19 xeroderma pigmentosum, complementation group b 9.3 XPC XPA ERCC5 DDB2 DDB1
20 xeroderma pigmentosum, complementation group d 9.3 XPC XPA ERCC5 DDB2 DDB1
21 xeroderma pigmentosum, complementation group g 9.3 XPC XPA ERCC5 DDB2 DDB1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Complementation Group E:



Diseases related to Xeroderma Pigmentosum, Complementation Group E

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group E

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group E:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 melanoma 31 HP:0002861
3 conjunctivitis 31 HP:0000509
4 keratitis 31 HP:0000491
5 cutaneous photosensitivity 31 HP:0000992
6 ectropion 31 HP:0000656
7 squamous cell carcinoma of the skin 31 HP:0006739
8 basal cell carcinoma 31 HP:0002671
9 poikiloderma 31 HP:0001029
10 telangiectasia 31 HP:0001009
11 dermal atrophy 31 HP:0004334
12 entropion 31 HP:0000621
13 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
photophobia
conjunctivitis
keratitis
ectropion
entropion

Lab:
defective dna repair after ultraviolet radiation damage

Skin:
poikiloderma
telangiectasia
skin atrophy
keratoacanthomas
skin photosensitivity
more
Misc:
mild xp features
minimal or no neurologic features

Clinical features from OMIM®:

278740 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group E according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.45 COPS2 COPS4 GPS1
2 Decreased OCT4 protein expression GR00184-A-5 10.45 COPS2 COPS4 GPS1
3 Decreased OCT4 protein expression GR00184-A-7 10.45 COPS2 COPS4 GPS1
4 Decreased NANOG protein expression GR00184-A-3 9.85 COPS4 GPS1
5 Decreased NANOG protein expression GR00184-A-6 9.85 COPS4
6 Decreased NANOG protein expression GR00184-A-8 9.85 COPS2 COPS4 GPS1
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.73 COPS2 COPS4 GPS1
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.73 COPS2 COPS4 GPS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.73 COPS5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.73 COPS5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.73 RBX1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.73 COPS5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.73 COPS5 COPS8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.73 RBX1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.73 GPS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.73 COPS5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.73 RBX1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.73 COPS8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.73 COPS8
20 Increased cell death in HCT116 cells GR00103-A-0 9.7 COPS2 COPS3 COPS4 COPS5 COPS8 CUL4A
21 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 9.02 COPS5 COPS6 COPS8 DDB1 DDB2

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 COPS3 COPS4 COPS5 COPS6 COPS7A COPS8
2 hematopoietic system MP:0005397 9.81 COPS4 COPS5 COPS6 COPS7A COPS8 CUL4A
3 mortality/aging MP:0010768 9.7 COPS3 COPS5 COPS6 COPS8 CUL4A DDB1
4 neoplasm MP:0002006 9.02 COPS6 CUL4A DDB2 XPA XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group E

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group E

Genetic Tests for Xeroderma Pigmentosum, Complementation Group E

Genetic tests related to Xeroderma Pigmentosum, Complementation Group E:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype 29

Anatomical Context for Xeroderma Pigmentosum, Complementation Group E

MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group E:

40
Skin

Publications for Xeroderma Pigmentosum, Complementation Group E

Articles related to Xeroderma Pigmentosum, Complementation Group E:

(show all 32)
# Title Authors PMID Year
1
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. 54 6
12812979 2003
2
Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. 57 61
8171034 1994
3
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
4
Cullin 4A associates with the UV-damaged DNA-binding protein DDB. 6
10585395 1999
5
A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. 6
10469312 1999
6
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 57
10447254 1999
7
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 57
8798680 1996
8
Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E. 57
8407967 1993
9
Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA. 57
3175673 1988
10
Assignment of three patients with xeroderma pigmentosum to complementation group E and their characteristics. 57
3339259 1988
11
A third complementation group in xeroderma pigmentosum. 57
4842087 1974
12
DDB2 decides cell fate following DNA damage. 54 61
19541625 2009
13
Impact of arsenic on nucleotide excision repair: XPC function, protein level, and gene expression. 54 61
19382146 2009
14
Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. 54 61
16260596 2005
15
cDNA cloning of the chicken DDB1 gene encoding the p127 subunit of damaged DNA-binding protein. 61 54
12773817 2003
16
BRCA1 transcriptionally regulates damaged DNA binding protein (DDB2) in the DNA repair response following UV-irradiation. 54 61
12170778 2002
17
Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. 61 54
8538642 1996
18
Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. 61 54
7523888 1994
19
Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer. 61
32739133 2020
20
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. 61
28425625 2017
21
DDB complexities. 61
12967661 2003
22
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein. 61
12509284 2002
23
DDB accumulates at DNA damage sites immediately after UV irradiation and directly stimulates nucleotide excision repair. 61
11705987 2002
24
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. 54
10771487 2000
25
Functional complementation of xeroderma pigmentosum complementation group E by replication protein A in an in vitro system. 61
8643521 1996
26
Comparative analysis of binding of human damaged DNA-binding protein (XPE) and Escherichia coli damage recognition protein (UvrA) to the major ultraviolet photoproducts: T[c,s]T, T[t,s]T, T[6-4]T, and T[Dewar]T. 61
8407968 1993
27
An ultraviolet light-damaged DNA recognition protein absent in xeroderma pigmentosum group E cells binds selectively to pyrimidine (6-4) pyrimidone photoproducts. 61
1454541 1992
28
Biochemical heterogeneity in xeroderma pigmentosum complementation group E. 61
1376435 1992
29
UV damage-specific DNA-binding protein in xeroderma pigmentosum complementation group E. 61
2025245 1991
30
Xeroderma pigmentosum complementation group E: a case report. 61
3774595 1986
31
[Clinical and photobiological characteristics of xeroderma pigmentosum complementation group E]. 61
4057652 1985
32
Normal rate of DNA breakage in xeroderma pigmentosum complementation group E cells treated with 8-methoxypsoralen plus near-ultraviolet radiation. 61
3970936 1985

Variations for Xeroderma Pigmentosum, Complementation Group E

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group E:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDB2 NM_001300734.1(DDB2):c.457-3053A>G SNV Pathogenic 8787 rs121434639 GRCh37: 11:47256335-47256335
GRCh38: 11:47234784-47234784
2 DDB2 NM_001300734.1(DDB2):c.457-2965G>A SNV Pathogenic 8788 rs121434640 GRCh37: 11:47256423-47256423
GRCh38: 11:47234872-47234872
3 DDB2 NM_001300734.1(DDB2):c.457-2511C>T SNV Pathogenic 8789 rs121434641 GRCh37: 11:47256877-47256877
GRCh38: 11:47235326-47235326
4 DDB2 NM_001300734.1(DDB2):c.457-2529G>T SNV Pathogenic 8790 rs121434642 GRCh37: 11:47256859-47256859
GRCh38: 11:47235308-47235308
5 DDB2 NM_001300734.1(DDB2):c.457-3053_457-3050del Microsatellite Likely pathogenic 635330 rs1336484333 GRCh37: 11:47256331-47256334
GRCh38: 11:47234780-47234783
6 DDB2 NM_000107.3(DDB2):c.511C>G (p.Gln171Glu) SNV Uncertain significance 771441 rs201703288 GRCh37: 11:47254419-47254419
GRCh38: 11:47232868-47232868
7 DDB2 NM_000107.3(DDB2):c.*7C>T SNV Uncertain significance 877254 GRCh37: 11:47260407-47260407
GRCh38: 11:47238856-47238856
8 DDB2 NM_000107.3(DDB2):c.*142A>G SNV Uncertain significance 877255 GRCh37: 11:47260542-47260542
GRCh38: 11:47238991-47238991
9 DDB2 NM_000107.3(DDB2):c.*287T>G SNV Uncertain significance 877256 GRCh37: 11:47260687-47260687
GRCh38: 11:47239136-47239136
10 DDB2 NM_000107.3(DDB2):c.-120G>C SNV Uncertain significance 878226 GRCh37: 11:47236568-47236568
GRCh38: 11:47215017-47215017
11 DDB2 NM_000107.3(DDB2):c.-36G>A SNV Uncertain significance 878227 GRCh37: 11:47236652-47236652
GRCh38: 11:47215101-47215101
12 DDB2 NM_000107.3(DDB2):c.59G>A (p.Arg20Lys) SNV Uncertain significance 878228 GRCh37: 11:47236746-47236746
GRCh38: 11:47215195-47215195
13 DDB2 NM_000107.3(DDB2):c.127+5T>G SNV Uncertain significance 695307 rs199965459 GRCh37: 11:47236819-47236819
GRCh38: 11:47215268-47215268
14 DDB2 NM_000107.3(DDB2):c.254C>G (p.Ser85Cys) SNV Uncertain significance 878229 GRCh37: 11:47238013-47238013
GRCh38: 11:47216462-47216462
15 DDB2 NM_000107.3(DDB2):c.414C>G (p.Leu138=) SNV Uncertain significance 879678 GRCh37: 11:47238558-47238558
GRCh38: 11:47217007-47217007
16 DDB2 NM_000107.3(DDB2):c.457-7G>A SNV Uncertain significance 879679 GRCh37: 11:47254358-47254358
GRCh38: 11:47232807-47232807
17 DDB2 NM_000107.3(DDB2):c.533A>C (p.Glu178Ala) SNV Uncertain significance 879680 GRCh37: 11:47254441-47254441
GRCh38: 11:47232890-47232890
18 DDB2 NM_000107.3(DDB2):c.852G>A (p.Ser284=) SNV Uncertain significance 879681 GRCh37: 11:47256457-47256457
GRCh38: 11:47234906-47234906
19 DDB2 NM_000107.3(DDB2):c.1053T>C (p.Ile351=) SNV Uncertain significance 777199 rs61741581 GRCh37: 11:47259417-47259417
GRCh38: 11:47237866-47237866
20 DDB2 NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) SNV Uncertain significance 304922 rs886048361 GRCh37: 11:47256854-47256854
GRCh38: 11:47235303-47235303
21 DDB2 NM_000107.2(DDB2):c.984G>A (p.Pro328=) SNV Uncertain significance 304925 rs138255134 GRCh37: 11:47256924-47256924
GRCh38: 11:47235373-47235373
22 DDB2 NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) SNV Uncertain significance 304928 rs886048362 GRCh37: 11:47259544-47259544
GRCh38: 11:47237993-47237993
23 DDB2 NM_000107.2(DDB2):c.*126T>C SNV Uncertain significance 304931 rs554676341 GRCh37: 11:47260526-47260526
GRCh38: 11:47238975-47238975
24 DDB2 NM_000107.2(DDB2):c.-56A>G SNV Uncertain significance 304914 rs777159854 GRCh37: 11:47236632-47236632
GRCh38: 11:47215081-47215081
25 DDB2 NM_000107.2(DDB2):c.876C>T (p.Asn292=) SNV Uncertain significance 304920 rs778504979 GRCh37: 11:47256481-47256481
GRCh38: 11:47234930-47234930
26 DDB2 NM_000107.2(DDB2):c.930C>T (p.Ser310=) SNV Uncertain significance 304923 rs549041558 GRCh37: 11:47256870-47256870
GRCh38: 11:47235319-47235319
27 DDB2 NM_000107.2(DDB2):c.1023+9C>T SNV Uncertain significance 304926 rs372842821 GRCh37: 11:47256972-47256972
GRCh38: 11:47235421-47235421
28 DDB2 NM_000107.2(DDB2):c.702+12G>A SNV Uncertain significance 304918 rs55847708 GRCh37: 11:47256235-47256235
GRCh38: 11:47234684-47234684
29 DDB2 NM_000107.2(DDB2):c.-123T>G SNV Uncertain significance 304912 rs565058800 GRCh37: 11:47236565-47236565
GRCh38: 11:47215014-47215014
30 DDB2 NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) SNV Uncertain significance 304921 rs761699363 GRCh37: 11:47256845-47256845
GRCh38: 11:47235294-47235294
31 DDB2 NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) SNV Uncertain significance 304924 rs776075728 GRCh37: 11:47256919-47256919
GRCh38: 11:47235368-47235368
32 DDB2 NM_000107.2(DDB2):c.264+8A>G SNV Uncertain significance 304916 rs374094218 GRCh37: 11:47238031-47238031
GRCh38: 11:47216480-47216480
33 DDB2 NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) SNV Uncertain significance 304927 rs780665825 GRCh37: 11:47259434-47259434
GRCh38: 11:47237883-47237883
34 DDB2 NM_000107.3(DDB2):c.-143A>G SNV Uncertain significance 877194 GRCh37: 11:47236545-47236545
GRCh38: 11:47214994-47214994
35 DDB2 NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) SNV Likely benign 133961 rs143049891 GRCh37: 11:47259728-47259728
GRCh38: 11:47238177-47238177
36 DDB2 NM_000107.2(DDB2):c.738G>A (p.Thr246=) SNV Likely benign 304919 rs144266685 GRCh37: 11:47256343-47256343
GRCh38: 11:47234792-47234792
37 DDB2 NM_000107.2(DDB2):c.577G>A (p.Val193Ile) SNV Likely benign 304917 rs200406558 GRCh37: 11:47254485-47254485
GRCh38: 11:47232934-47232934
38 DDB2 NM_000107.2(DDB2):c.*151C>A SNV Benign 304932 rs4647760 GRCh37: 11:47260551-47260551
GRCh38: 11:47239000-47239000
39 DDB2 NM_000107.2(DDB2):c.*77C>T SNV Benign 304930 rs1050244 GRCh37: 11:47260477-47260477
GRCh38: 11:47238926-47238926
40 DDB2 NM_000107.2(DDB2):c.-120G>A SNV Benign 304913 rs4647707 GRCh37: 11:47236568-47236568
GRCh38: 11:47215017-47215017

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Complementation Group E:

72
# Symbol AA change Variation ID SNP ID
1 DDB2 p.Lys244Glu VAR_010141 rs121434639
2 DDB2 p.Arg273His VAR_010142 rs121434640

Expression for Xeroderma Pigmentosum, Complementation Group E

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Complementation Group E.

Pathways for Xeroderma Pigmentosum, Complementation Group E

Pathways related to Xeroderma Pigmentosum, Complementation Group E according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 GPS1 COPS8 COPS7A COPS6 COPS5 COPS4
2
Show member pathways
12.57 XPC XPA RBX1 GPS1 ERCC5 DDB2
3
Show member pathways
12.5 XPC XPA RBX1 GPS1 ERCC5 DDB2
4 12.24 XPC XPA DDB2 DDB1 COPS5
5
Show member pathways
12.23 GPS1 COPS8 COPS7A COPS6 COPS5 COPS4
6
Show member pathways
11.92 RBX1 DDB1 CUL4A
7 11.85 RBX1 DDB2 DDB1 CUL4A
8
Show member pathways
11.76 XPC XPA RBX1 ERCC5 DDB2 DDB1
9 10.61 RBX1 COPS5

GO Terms for Xeroderma Pigmentosum, Complementation Group E

Cellular components related to Xeroderma Pigmentosum, Complementation Group E according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.23 XPC XPA RBX1 GPS1 DDB1 COPS8
2 cytosol GO:0005829 10.19 XPC RBX1 GPS1 COPS8 COPS7A COPS6
3 nucleus GO:0005634 10.17 XPC XPA RBX1 GPS1 ERCC5 DDB2
4 nucleoplasm GO:0005654 9.83 XPC XPA RBX1 GPS1 ERCC5 DDB2
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.58 DDB2 DDB1 CUL4A
6 cullin-RING ubiquitin ligase complex GO:0031461 9.54 RBX1 DDB1 CUL4A
7 DNA replication factor A complex GO:0005662 9.48 XPA ERCC5
8 nucleotide-excision repair complex GO:0000109 9.43 XPC ERCC5
9 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.43 RBX1 DDB1 CUL4A
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.33 RBX1 DDB2 DDB1
11 COP9 signalosome GO:0008180 9.23 GPS1 COPS8 COPS7A COPS6 COPS5 COPS4

Biological processes related to Xeroderma Pigmentosum, Complementation Group E according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.09 XPC XPA RBX1 ERCC5 DDB2 DDB1
2 DNA repair GO:0006281 10.08 XPC XPA RBX1 ERCC5 DDB2 DDB1
3 viral process GO:0016032 9.97 RBX1 DDB1 CUL4A COPS7A COPS6
4 nucleotide-excision repair, DNA incision GO:0033683 9.97 XPA RBX1 ERCC5 DDB2 DDB1 CUL4A
5 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.95 XPA RBX1 ERCC5 DDB2 DDB1 CUL4A
6 global genome nucleotide-excision repair GO:0070911 9.93 XPC XPA RBX1 DDB2 DDB1 CUL4A
7 post-translational protein modification GO:0043687 9.93 RBX1 GPS1 DDB2 DDB1 CUL4A COPS8
8 nucleotide-excision repair GO:0006289 9.92 XPC XPA ERCC5 DDB2 DDB1
9 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.91 XPC XPA RBX1 DDB2 DDB1 CUL4A
10 ubiquitin-dependent protein catabolic process GO:0006511 9.89 RBX1 DDB1 CUL4A COPS3
11 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.88 XPA RBX1 ERCC5 DDB2 DDB1 CUL4A
12 nucleotide-excision repair, preincision complex assembly GO:0006294 9.87 XPC XPA RBX1 ERCC5 DDB2 DDB1
13 protein deneddylation GO:0000338 9.86 GPS1 COPS8 COPS7A COPS6 COPS5 COPS4
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 XPA RBX1 ERCC5 DDB2 DDB1 CUL4A
15 UV-damage excision repair GO:0070914 9.81 XPC XPA DDB2 DDB1
16 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.79 RBX1 DDB1 CUL4A
17 transcription-coupled nucleotide-excision repair GO:0006283 9.77 XPA RBX1 GPS1 ERCC5 DDB1 CUL4A
18 DNA damage response, detection of DNA damage GO:0042769 9.73 RBX1 DDB1 CUL4A
19 response to auditory stimulus GO:0010996 9.61 XPC XPA
20 UV protection GO:0009650 9.6 XPA ERCC5
21 histone H2A monoubiquitination GO:0035518 9.58 DDB2 DDB1
22 COP9 signalosome assembly GO:0010387 9.57 COPS8 COPS7A
23 nucleotide-excision repair, DNA damage recognition GO:0000715 9.47 XPC XPA RBX1 GPS1 DDB2 DDB1

Molecular functions related to Xeroderma Pigmentosum, Complementation Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.24 XPC XPA RBX1 GPS1 ERCC5 DDB2
2 protein-containing complex binding GO:0044877 9.55 XPC RBX1 ERCC5 DDB2 DDB1
3 cullin family protein binding GO:0097602 9.4 RBX1 DDB1
4 isopeptidase activity GO:0070122 9.32 COPS6 COPS5
5 bubble DNA binding GO:0000405 9.26 XPC ERCC5
6 damaged DNA binding GO:0003684 9.26 XPC XPA DDB2 DDB1
7 NEDD8-specific protease activity GO:0019784 8.8 COPS5 COPS4 COPS2

Sources for Xeroderma Pigmentosum, Complementation Group E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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