XP5
MCID: XRD027
MIFTS: 38

Xeroderma Pigmentosum Group E (XP5)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum Group E

MalaCards integrated aliases for Xeroderma Pigmentosum Group E:

Name: Xeroderma Pigmentosum Group E 12 15
Xeroderma Pigmentosum, Group E 29 6
Xeroderma Pigmentosum, Complementation Group E 70
Xeroderma Pigmentosum V 12
Xp Group E 12
Xpe 12
Xp5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110846
ICD10 32 Q82.1
UMLS 70 C1848411

Summaries for Xeroderma Pigmentosum Group E

Disease Ontology : 12 A xeroderma pigmentosum characterized by a mild phenotype that has material basis in homozygous mutation in the DDB2 gene on chromosome 11p11.

MalaCards based summary : Xeroderma Pigmentosum Group E, also known as xeroderma pigmentosum, group e, is related to xeroderma pigmentosum, complementation group e and xeroderma pigmentosum, complementation group a. An important gene associated with Xeroderma Pigmentosum Group E is DDB2 (Damage Specific DNA Binding Protein 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include colon and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Xeroderma Pigmentosum Group E

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group e 32.2 XPC XPA RBX1 ERCC5 DDB2 DDB1
2 xeroderma pigmentosum, complementation group a 30.1 XPC XPA RAD23B H2AC18 ERCC6 ERCC2
3 skin carcinoma 29.6 XPC XPA H2AC18 ERCC6 ERCC3 ERCC2
4 autosomal recessive disease 29.3 XPA H2AC18 ERCC6 ERCC3 ERCC2
5 xeroderma pigmentosum, complementation group f 28.4 XPA RAD23B ERCC6 ERCC5 ERCC4 ERCC3
6 xeroderma pigmentosum, variant type 28.0 XPC XPA UVSSA RAD23B H2AC20 H2AC18
7 cockayne syndrome 27.2 XPC XPA UVSSA SSBP3 RBX1 H2AC20
8 uv-sensitive syndrome 27.0 XPC XPA UVSSA RBX1 RAD23B H2AC18
9 robinow syndrome 10.2 UVSSA H2AC18 ERCC6
10 uv-sensitive syndrome 3 10.2
11 48,xyyy 10.2
12 hyperinsulinemic hypoglycemia, familial, 3 10.1 H2AC20 H2AC18
13 alpha thalassemia-x-linked intellectual disability syndrome 10.1 H2AC20 H2AC18 ERCC6
14 riddle syndrome 10.1 H2AC20 H2AC18 ERCC6
15 cockayne syndrome b 10.1 ERCC6 ERCC1 DDB1
16 transvestism 10.0 H2AC20 H2AC18
17 carbohydrate metabolic disorder 10.0 H2AC20 H2AC18 ERCC6
18 photoparoxysmal response 1 10.0 XPA ERCC6 ERCC1
19 hair disease 9.9 H2AC18 ERCC6 ERCC3
20 epilepsy, idiopathic generalized 2 9.9 H2AC20 H2AC18
21 trichothiodystrophy 1, photosensitive 9.8 ERCC6 ERCC3 ERCC2
22 autosomal genetic disease 9.8 XPA H2AC18 ERCC6 ERCC1
23 gastroesophageal adenocarcinoma 9.8 XPA ERCC2 ERCC1
24 mutagen sensitivity 9.8 XPC XPA RAD23B ERCC2
25 ocular cancer 9.7 XPA H2AC18 ERCC2
26 acoustic neuroma 9.6 ERCC5 ERCC4 ERCC2
27 cerebrooculofacioskeletal syndrome 1 9.6 ERCC6 ERCC5 ERCC2 ERCC1
28 hutchinson-gilford progeria syndrome 9.6 XPA H2AC18 ERCC6 ERCC4 ERCC1
29 female breast cancer 9.6 ERCC5 ERCC4 ERCC2
30 xeroderma pigmentosum-cockayne syndrome complex 9.5 ERCC5 ERCC4 ERCC3 ERCC2
31 trichothiodystrophy 3, photosensitive 9.5 UVSSA ERCC6 ERCC3 ERCC2 DDB2 CETN2
32 breast disease 9.3 RAD23B H2AC18 ERCC5 ERCC4 ERCC2
33 xfe progeroid syndrome 9.3 XPA UVSSA ERCC6 ERCC5 ERCC4 ERCC3
34 cockayne syndrome a 9.2 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC1
35 robinow syndrome, autosomal recessive 1 9.2 XPA UVSSA H2AC18 ERCC6 ERCC4 ERCC3
36 fanconi anemia, complementation group a 9.2 XPA H2AC18 ERCC6 ERCC4 ERCC2 ERCC1
37 cerebro-oculo-facio-skeletal syndrome 9.2 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
38 xeroderma pigmentosum, complementation group c 8.9 XPC XPA RAD23B H2AC18 ERCC6 ERCC3
39 trichothiodystrophy 8.9 XPC XPA ERCC6 ERCC5 ERCC4 ERCC3
40 xeroderma pigmentosum, complementation group d 8.2 XPC XPA RAD23B H2AC18 ERCC6 ERCC5
41 xeroderma pigmentosum, complementation group b 8.1 XPC XPA UVSSA RAD23B H2AC18 ERCC6
42 xeroderma pigmentosum, complementation group g 8.1 XPC XPA UVSSA RAD23B H2AC18 ERCC6

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



Diseases related to Xeroderma Pigmentosum Group E

Symptoms & Phenotypes for Xeroderma Pigmentosum Group E

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.92 CUL1 CUL4A DDB2 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.92 CUL1 CUL4A DDB2 ERCC1 ERCC4 ERCC5
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.92 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 CETN2
4 Increased cell death in HCT116 cells GR00103-A-0 9.13 CUL1 CUL4A RBX1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum Group E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 CETN2 CUL1 CUL4A DDB1 DDB2 ERCC1
2 growth/size/body region MP:0005378 10.17 CETN2 CUL1 CUL4A DDB2 ERCC1 ERCC2
3 mortality/aging MP:0010768 10.03 CETN2 CUL1 CUL4A DDB1 DDB2 ERCC1
4 integument MP:0010771 9.91 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
5 neoplasm MP:0002006 9.56 CUL4A DDB2 ERCC1 ERCC2 ERCC3 ERCC6
6 vision/eye MP:0005391 9.28 CETN2 DDB1 ERCC1 ERCC2 ERCC5 ERCC6

Drugs & Therapeutics for Xeroderma Pigmentosum Group E

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

Genetic Tests for Xeroderma Pigmentosum Group E

Genetic tests related to Xeroderma Pigmentosum Group E:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group E 29 DDB2

Anatomical Context for Xeroderma Pigmentosum Group E

MalaCards organs/tissues related to Xeroderma Pigmentosum Group E:

40
Colon, Skin

Publications for Xeroderma Pigmentosum Group E

Articles related to Xeroderma Pigmentosum Group E:

(show top 50) (show all 54)
# 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. 6
12812979 2003
2
Cullin 4A associates with the UV-damaged DNA-binding protein DDB. 6
10585395 1999
3
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
4
Argyrophilic nucleolar organizing regions in patients with Xeroderma Pigmentosum Group E. 61
33200418 2021
5
Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E. 61
32530099 2020
6
DDB2 is involved in ubiquitination and degradation of PAQR3 and regulates tumorigenesis of gastric cancer cells. 61
26205499 2015
7
Single-molecule analysis reveals human UV-damaged DNA-binding protein (UV-DDB) dimerizes on DNA via multiple kinetic intermediates. 61
24760829 2014
8
DDB2 suppresses epithelial-to-mesenchymal transition in colon cancer. 61
23610444 2013
9
Monoubiquitinated histone H2A destabilizes photolesion-containing nucleosomes with concomitant release of UV-damaged DNA-binding protein E3 ligase. 61
22334663 2012
10
DDB2 complex-mediated ubiquitylation around DNA damage is oppositely regulated by XPC and Ku and contributes to the recruitment of XPA. 61
20368362 2010
11
The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. 61
18593899 2008
12
The xeroderma pigmentosum group E gene product DDB2 activates nucleotide excision repair by regulating the level of p21Waf1/Cip1. 61
17967871 2008
13
Polymorphisms in DNA damage binding protein 2 (DDB2) and susceptibility of primary lung cancer in the Chinese: a case-control study. 61
16522664 2006
14
The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. 61
16473935 2006
15
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome. 61
16325378 2006
16
DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA. 61
16223728 2005
17
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. 61
15811626 2005
18
Tumor-prone phenotype of the DDB2-deficient mice. 61
15558025 2005
19
DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen. 61
14769931 2004
20
Deficient global genome repair of UV-induced cyclobutane pyrimidine dimers in terminally differentiated myocytes and proliferating fibroblasts from the rat heart. 61
14642560 2003
21
Basal transcriptional regulation of human damage-specific DNA-binding protein genes DDB1 and DDB2 by Sp1, E2F, N-myc and NF1 elements. 61
12527763 2003
22
Characterization of a Schizosaccharomyces pombe strain deleted for a sequence homologue of the human damaged DNA binding 1 (DDB1) gene. 61
12181326 2002
23
Interaction between UV-damaged DNA binding activity proteins and the c-Abl tyrosine kinase. 61
12107171 2002
24
p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice. 61
11971958 2002
25
XP43TO, previously classified as xeroderma pigmentosum Group E, should be reclassified as xeroderma pigmentosum variant. 61
11886541 2001
26
Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum group E strains. 61
11704828 2001
27
The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. 61
11564859 2001
28
The p48 subunit of the damaged-DNA binding protein DDB associates with the CBP/p300 family of histone acetyltransferase. 61
11425514 2001
29
Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation. 61
10777490 2000
30
Nuclear transport of human DDB protein induced by ultraviolet light. 61
10777491 2000
31
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. 61
10771487 2000
32
Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis. 61
10882109 2000
33
Purification and biochemical characterization of interchromatin granule clusters. 61
10428969 1999
34
The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2F1-activated transcription. 61
10373543 1999
35
Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair. 61
9892649 1999
36
The V protein of the paramyxovirus SV5 interacts with damage-specific DNA binding protein. 61
9740790 1998
37
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. 61
9632823 1998
38
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. 61
9584159 1998
39
Generation and characterization of an immortal cell line of xeroderma pigmentosum group E. 61
9539981 1998
40
Translocation of a UV-damaged DNA binding protein into a tight association with chromatin after treatment of mammalian cells with UV light. 61
9191040 1997
41
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 61
8798680 1996
42
repE--the Dictyostelium homolog of the human xeroderma pigmentosum group E gene is developmentally regulated and contains a leucine zipper motif. 61
8710499 1996
43
Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. 61
8538642 1996
44
Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. 61
8530102 1995
45
Viral co-factors in liver cancer: lessons from hepatitis B virus. 61
8875624 1995
46
Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. 61
7523888 1994
47
Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. 61
8171034 1994
48
Massive cisplatin overdose by accidental substitution for carboplatin. Toxicity and management. 61
8252487 1993
49
A 127 kDa component of a UV-damaged DNA-binding complex, which is defective in some xeroderma pigmentosum group E patients, is homologous to a slime mold protein. 61
8371985 1993
50
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

Variations for Xeroderma Pigmentosum Group E

ClinVar genetic disease variations for Xeroderma Pigmentosum Group E:

6 (show all 39)
# 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_000107.3(DDB2):c.511C>G (p.Gln171Glu) SNV Uncertain significance 771441 rs201703288 GRCh37: 11:47254419-47254419
GRCh38: 11:47232868-47232868
6 DDB2 NM_000107.2(DDB2):c.984G>A (p.Pro328=) SNV Uncertain significance 304925 rs138255134 GRCh37: 11:47256924-47256924
GRCh38: 11:47235373-47235373
7 DDB2 NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) SNV Uncertain significance 304922 rs886048361 GRCh37: 11:47256854-47256854
GRCh38: 11:47235303-47235303
8 DDB2 NM_000107.3(DDB2):c.*7C>T SNV Uncertain significance 877254 GRCh37: 11:47260407-47260407
GRCh38: 11:47238856-47238856
9 DDB2 NM_000107.3(DDB2):c.*142A>G SNV Uncertain significance 877255 GRCh37: 11:47260542-47260542
GRCh38: 11:47238991-47238991
10 DDB2 NM_000107.3(DDB2):c.*287T>G SNV Uncertain significance 877256 GRCh37: 11:47260687-47260687
GRCh38: 11:47239136-47239136
11 DDB2 NM_000107.3(DDB2):c.-120G>C SNV Uncertain significance 878226 GRCh37: 11:47236568-47236568
GRCh38: 11:47215017-47215017
12 DDB2 NM_000107.3(DDB2):c.-36G>A SNV Uncertain significance 878227 GRCh37: 11:47236652-47236652
GRCh38: 11:47215101-47215101
13 DDB2 NM_000107.3(DDB2):c.59G>A (p.Arg20Lys) SNV Uncertain significance 878228 GRCh37: 11:47236746-47236746
GRCh38: 11:47215195-47215195
14 DDB2 NM_000107.3(DDB2):c.127+5T>G SNV Uncertain significance 695307 rs199965459 GRCh37: 11:47236819-47236819
GRCh38: 11:47215268-47215268
15 DDB2 NM_000107.3(DDB2):c.254C>G (p.Ser85Cys) SNV Uncertain significance 878229 GRCh37: 11:47238013-47238013
GRCh38: 11:47216462-47216462
16 DDB2 NM_000107.3(DDB2):c.414C>G (p.Leu138=) SNV Uncertain significance 879678 GRCh37: 11:47238558-47238558
GRCh38: 11:47217007-47217007
17 DDB2 NM_000107.3(DDB2):c.457-7G>A SNV Uncertain significance 879679 GRCh37: 11:47254358-47254358
GRCh38: 11:47232807-47232807
18 DDB2 NM_000107.3(DDB2):c.533A>C (p.Glu178Ala) SNV Uncertain significance 879680 GRCh37: 11:47254441-47254441
GRCh38: 11:47232890-47232890
19 DDB2 NM_000107.3(DDB2):c.852G>A (p.Ser284=) SNV Uncertain significance 879681 GRCh37: 11:47256457-47256457
GRCh38: 11:47234906-47234906
20 DDB2 NM_000107.3(DDB2):c.1053T>C (p.Ile351=) SNV Uncertain significance 777199 rs61741581 GRCh37: 11:47259417-47259417
GRCh38: 11:47237866-47237866
21 DDB2 NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) SNV Uncertain significance 304928 rs886048362 GRCh37: 11:47259544-47259544
GRCh38: 11:47237993-47237993
22 DDB2 NM_000107.2(DDB2):c.*126T>C SNV Uncertain significance 304931 rs554676341 GRCh37: 11:47260526-47260526
GRCh38: 11:47238975-47238975
23 DDB2 NM_000107.2(DDB2):c.-56A>G SNV Uncertain significance 304914 rs777159854 GRCh37: 11:47236632-47236632
GRCh38: 11:47215081-47215081
24 DDB2 NM_000107.2(DDB2):c.876C>T (p.Asn292=) SNV Uncertain significance 304920 rs778504979 GRCh37: 11:47256481-47256481
GRCh38: 11:47234930-47234930
25 DDB2 NM_000107.2(DDB2):c.930C>T (p.Ser310=) SNV Uncertain significance 304923 rs549041558 GRCh37: 11:47256870-47256870
GRCh38: 11:47235319-47235319
26 DDB2 NM_000107.2(DDB2):c.1023+9C>T SNV Uncertain significance 304926 rs372842821 GRCh37: 11:47256972-47256972
GRCh38: 11:47235421-47235421
27 DDB2 NM_000107.2(DDB2):c.702+12G>A SNV Uncertain significance 304918 rs55847708 GRCh37: 11:47256235-47256235
GRCh38: 11:47234684-47234684
28 DDB2 NM_000107.2(DDB2):c.-123T>G SNV Uncertain significance 304912 rs565058800 GRCh37: 11:47236565-47236565
GRCh38: 11:47215014-47215014
29 DDB2 NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) SNV Uncertain significance 304921 rs761699363 GRCh37: 11:47256845-47256845
GRCh38: 11:47235294-47235294
30 DDB2 NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) SNV Uncertain significance 304924 rs776075728 GRCh37: 11:47256919-47256919
GRCh38: 11:47235368-47235368
31 DDB2 NM_000107.2(DDB2):c.264+8A>G SNV Uncertain significance 304916 rs374094218 GRCh37: 11:47238031-47238031
GRCh38: 11:47216480-47216480
32 DDB2 NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) SNV Uncertain significance 304927 rs780665825 GRCh37: 11:47259434-47259434
GRCh38: 11:47237883-47237883
33 DDB2 NM_000107.3(DDB2):c.-143A>G SNV Uncertain significance 877194 GRCh37: 11:47236545-47236545
GRCh38: 11:47214994-47214994
34 DDB2 NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) SNV Likely benign 133961 rs143049891 GRCh37: 11:47259728-47259728
GRCh38: 11:47238177-47238177
35 DDB2 NM_000107.2(DDB2):c.738G>A (p.Thr246=) SNV Likely benign 304919 rs144266685 GRCh37: 11:47256343-47256343
GRCh38: 11:47234792-47234792
36 DDB2 NM_000107.2(DDB2):c.577G>A (p.Val193Ile) SNV Likely benign 304917 rs200406558 GRCh37: 11:47254485-47254485
GRCh38: 11:47232934-47232934
37 DDB2 NM_000107.2(DDB2):c.*151C>A SNV Benign 304932 rs4647760 GRCh37: 11:47260551-47260551
GRCh38: 11:47239000-47239000
38 DDB2 NM_000107.2(DDB2):c.*77C>T SNV Benign 304930 rs1050244 GRCh37: 11:47260477-47260477
GRCh38: 11:47238926-47238926
39 DDB2 NM_000107.2(DDB2):c.-120G>A SNV Benign 304913 rs4647707 GRCh37: 11:47236568-47236568
GRCh38: 11:47215017-47215017

Expression for Xeroderma Pigmentosum Group E

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

Pathways for Xeroderma Pigmentosum Group E

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 XPC XPA RAD23B ERCC6 ERCC5 ERCC4
2
Show member pathways
12.57 XPC XPA UVSSA RBX1 RAD23B ERCC6
3
Show member pathways
12.5 XPC XPA UVSSA RBX1 RAD23B ERCC6
4 12.45 XPC XPA RAD23B ERCC4 ERCC3 ERCC2
5
Show member pathways
12.07 XPC XPA RBX1 RAD23B ERCC6 ERCC5
6 11.95 RBX1 DDB2 DDB1 CUL4A CUL1
7
Show member pathways
11.7 ERCC6 ERCC3 ERCC2
8 11.47 XPC XPA ERCC3 ERCC2
9 11.2 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
10
Show member pathways
10.46 RBX1 CUL1

GO Terms for Xeroderma Pigmentosum Group E

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.34 XPC XPA SSBP3 RBX1 RAD23B H2AC20
2 nucleoplasm GO:0005654 9.86 XPC XPA UVSSA RBX1 RAD23B ERCC6
3 SCF ubiquitin ligase complex GO:0019005 9.67 RBX1 CUL4A CUL1
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.63 DDB2 DDB1 CUL4A
5 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.58 RBX1 DDB1 CUL4A
6 transcription factor TFIIH holo complex GO:0005675 9.54 ERCC3 ERCC2
7 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.54 RBX1 DDB2 DDB1
8 DNA replication factor A complex GO:0005662 9.52 XPA ERCC5
9 transcription factor TFIIH core complex GO:0000439 9.51 ERCC3 ERCC2
10 XPC complex GO:0071942 9.5 XPC RAD23B CETN2
11 ERCC4-ERCC1 complex GO:0070522 9.48 ERCC4 ERCC1
12 cullin-RING ubiquitin ligase complex GO:0031461 9.46 RBX1 DDB1 CUL4A CUL1
13 nucleotide-excision repair factor 1 complex GO:0000110 9.43 XPA ERCC4 ERCC1
14 nucleotide-excision repair complex GO:0000109 8.92 XPC ERCC5 ERCC4 ERCC1

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.19 XPA RBX1 ERCC5 ERCC4 ERCC3 ERCC2
2 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.18 XPA RBX1 ERCC5 ERCC4 ERCC3 ERCC2
3 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.16 XPA RBX1 ERCC5 ERCC4 ERCC3 ERCC2
4 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.13 XPA RBX1 ERCC5 ERCC4 ERCC3 ERCC2
5 protein ubiquitination GO:0016567 10.12 UVSSA RBX1 DDB2 DDB1 CUL4A CUL1
6 nucleotide-excision repair, DNA damage recognition GO:0000715 10.11 XPC XPA RBX1 RAD23B DDB2 DDB1
7 nucleotide-excision repair, preincision complex assembly GO:0006294 10.11 XPC XPA RBX1 RAD23B ERCC5 ERCC3
8 viral process GO:0016032 10.1 RBX1 ERCC3 ERCC2 DDB1 CUL4A CUL1
9 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.1 XPC XPA RBX1 RAD23B ERCC3 ERCC2
10 response to UV GO:0009411 10.08 UVSSA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
11 nucleotide-excision repair GO:0006289 10.06 XPC XPA RAD23B ERCC5 ERCC4 ERCC3
12 post-translational protein modification GO:0043687 10.04 RBX1 DDB2 DDB1 CUL4A CUL1
13 ubiquitin-dependent protein catabolic process GO:0006511 10.01 RBX1 DDB1 CUL4A CUL1 CACUL1
14 UV protection GO:0009650 10 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
15 transcription-coupled nucleotide-excision repair GO:0006283 10 XPA UVSSA RBX1 ERCC6 ERCC5 ERCC4
16 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.96 RBX1 RAD23B DDB1 CUL4A
17 regulation of mitotic cell cycle phase transition GO:1901990 9.96 XPC ERCC3 ERCC2 DDB1 CUL1
18 UV-damage excision repair GO:0070914 9.95 XPC XPA ERCC1 DDB2 DDB1
19 global genome nucleotide-excision repair GO:0070911 9.93 XPC XPA RBX1 RAD23B ERCC4 ERCC3
20 response to oxidative stress GO:0006979 9.91 ERCC6 ERCC3 ERCC2 ERCC1
21 embryonic organ development GO:0048568 9.87 RAD23B ERCC3 ERCC2 ERCC1
22 G1/S transition of mitotic cell cycle GO:0000082 9.86 CUL4A CUL1 CACUL1
23 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.85 RBX1 CUL4A CUL1
24 DNA duplex unwinding GO:0032508 9.85 ERCC6 ERCC3 ERCC2
25 multicellular organism growth GO:0035264 9.84 ERCC6 ERCC2 ERCC1
26 cellular response to DNA damage stimulus GO:0006974 9.83 XPC XPA UVSSA RBX1 RAD23B ERCC6
27 DNA damage response, detection of DNA damage GO:0042769 9.79 RBX1 DDB1 CUL4A
28 transcription elongation from RNA polymerase I promoter GO:0006362 9.76 ERCC6 ERCC3 ERCC2
29 response to X-ray GO:0010165 9.69 ERCC6 ERCC1
30 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.68 ERCC6 ERCC1
31 response to auditory stimulus GO:0010996 9.68 XPC XPA
32 histone H2A monoubiquitination GO:0035518 9.67 DDB2 DDB1
33 response to UV-B GO:0010224 9.66 XPC ERCC6
34 hair cell differentiation GO:0035315 9.65 ERCC3 ERCC2
35 SCF complex assembly GO:0010265 9.65 RBX1 CUL1
36 pyrimidine dimer repair GO:0006290 9.65 ERCC6 DDB2
37 negative regulation of telomere maintenance GO:0032205 9.63 ERCC4 ERCC1
38 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.63 XPC ERCC1
39 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.6 ERCC4 ERCC1
40 telomeric DNA-containing double minutes formation GO:0061819 9.59 ERCC4 ERCC1
41 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.58 XPA ERCC4
42 DNA repair GO:0006281 9.5 XPC XPA UVSSA RBX1 RAD23B ERCC6

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.51 XPC XPA UVSSA SSBP3 RBX1 RAD23B
2 DNA binding GO:0003677 9.97 XPC XPA SSBP3 H2AC20 H2AC18 ERCC6
3 ubiquitin protein ligase binding GO:0031625 9.87 RBX1 CUL4A CUL1 CACUL1
4 ubiquitin-protein transferase activity GO:0004842 9.86 RBX1 DDB2 CUL4A CUL1
5 protein-containing complex binding GO:0044877 9.85 XPC RBX1 ERCC6 ERCC5 DDB2 DDB1
6 endonuclease activity GO:0004519 9.72 ERCC5 ERCC4 ERCC1
7 protein C-terminus binding GO:0008022 9.72 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
8 DNA helicase activity GO:0003678 9.65 ERCC6 ERCC3 ERCC2
9 protein N-terminus binding GO:0047485 9.65 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
10 promoter-specific chromatin binding GO:1990841 9.61 ERCC4 ERCC3 ERCC1
11 endodeoxyribonuclease activity GO:0004520 9.52 ERCC5 ERCC4
12 TFIID-class transcription factor complex binding GO:0001094 9.51 ERCC4 ERCC1
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC4 ERCC1
14 bubble DNA binding GO:0000405 9.46 XPC ERCC5
15 single-stranded DNA binding GO:0003697 9.43 XPC SSBP3 RAD23B ERCC5 ERCC4 ERCC1
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.4 ERCC4 ERCC1
17 damaged DNA binding GO:0003684 9.28 XPC XPA RAD23B ERCC4 ERCC3 ERCC2

Sources for Xeroderma Pigmentosum 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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