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XPB
MCID: XRD032
MIFTS: 50

Xeroderma Pigmentosum, Complementation Group B (XPB)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group B

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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group B:

Name: Xeroderma Pigmentosum, Complementation Group B 56 29 6 39
Xeroderma Pigmentosum, Group B 56 13 71
Xeroderma Pigmentosum Group B 12 15
Xp Group B 12 73
Xpbc 56 12
Xpb 56 12
Xeroderma Pigmentosum Group B with Cockayne Syndrome 73
Xeroderma Pigmentosum Complementation Group B 73
Xeroderma Pigmentosum Ii 73
Xp, Group B; Xpbc 56
Xp, Group B 56
Xp-B/cs 73
Xp-B 73
Xp2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


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Summaries for Xeroderma Pigmentosum, Complementation Group B

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UniProtKB/Swiss-Prot : 73 Xeroderma pigmentosum complementation group B: 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. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group B, also known as xeroderma pigmentosum, group b, is related to xeroderma pigmentosum, complementation group a and trichothiodystrophy, and has symptoms including ataxia An important gene associated with Xeroderma Pigmentosum, Complementation Group B is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include skin and lung, and related phenotypes are cataract and intellectual disability

Disease Ontology : 12 A xeroderma pigmentosum characterized by that has material basis in mutation in the ERCC3 gene on chromosome 2q14.

OMIM : 56 For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Cleaver (1990) provided a review of the causes of xeroderma pigmentosum. (610651)

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Related Diseases for Xeroderma Pigmentosum, Complementation Group B

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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 B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.6 XPA RAD23B H2AC18 ERCC6 ERCC2 ERCC1
2 trichothiodystrophy 31.2 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
3 skin carcinoma 30.5 XPA H2AC18 ERCC6 ERCC3 ERCC2 DDB2
4 xeroderma pigmentosum-cockayne syndrome complex 30.4 ERCC5 ERCC4 ERCC3 ERCC2
5 cockayne syndrome b 30.1 ERCC6 ERCC1
6 autosomal recessive disease 30.0 XPA H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
7 xeroderma pigmentosum, complementation group f 29.3 XPA RAD23B ERCC6 ERCC5 ERCC4 ERCC3
8 xeroderma pigmentosum, complementation group c 28.9 XPA RAD23B H2AC18 GTF2H3 GTF2H1 ERCC6
9 cockayne syndrome 28.3 XPA GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
10 xeroderma pigmentosum, variant type 27.5 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
11 xeroderma pigmentosum, complementation group g 27.4 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
12 trichothiodystrophy 4, nonphotosensitive 10.4 GTF2H5 ERCC3
13 leukemia, acute lymphoblastic 10.3
14 phlebotomus fever 10.3 GTF2H2 GTF2H1
15 mutagen sensitivity 10.3 XPA RAD23B ERCC2
16 hair disease 10.3 H2AC18 ERCC6 ERCC3
17 ovarian cancer 10.2
18 lung cancer 10.2
19 ovarian epithelial cancer 10.2
20 autosomal genetic disease 10.2 XPA H2AC18 ERCC6 ERCC1
21 severe combined immunodeficiency with sensitivity to ionizing radiation 10.2 H2AC18 ERCC6
22 skin benign neoplasm 10.2
23 cerebrooculofacioskeletal syndrome 1 10.1 ERCC6 ERCC5 ERCC2 ERCC1
24 ocular cancer 10.1 XPA H2AC18 ERCC2
25 robinow syndrome, autosomal recessive 1 10.1 XPA H2AC18 GTF2H5 ERCC6 DDB2
26 acoustic neuroma 10.1 ERCC5 ERCC4 ERCC2
27 neurofibromatosis, type ii 10.1
28 pulmonary hypertension, primary, 1 10.1
29 ataxia-telangiectasia 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 lung cancer susceptibility 1 10.1
32 leukemia 10.1
33 telangiectasis 10.1
34 hepatitis b 10.1
35 premature aging 10.1
36 overgrowth syndrome 10.1
37 xeroderma pigmentosum, complementation group e 10.0 XPA ERCC5 DDB2 DDB1
38 female breast cancer 10.0 ERCC5 ERCC4 ERCC2
39 hutchinson-gilford progeria syndrome 10.0 XPA H2AC18 ERCC6 ERCC4 ERCC1
40 fanconi anemia, complementation group d2 10.0
41 ichthyosis 10.0 GTF2H5 ERCC6 ERCC3 ERCC2
42 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
43 xfe progeroid syndrome 9.8 XPA GTF2H5 ERCC6 ERCC5 ERCC4 ERCC3
44 fanconi anemia, complementation group a 9.7 XPA H2AC18 ERCC6 ERCC4 ERCC2 ERCC1
45 cockayne syndrome a 9.6 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
46 microcephaly 9.6 PUF60 H2AC18 ERCC6 ERCC5 ERCC4 ERCC2
47 xeroderma pigmentosum group e 8.8 XPA RAD23B H2AC18 GTF2H5 ERCC6 ERCC5
48 uv-sensitive syndrome 8.8 XPA RAD23B H2AC18 GTF2H5 ERCC6 ERCC5
49 trichothiodystrophy 1, photosensitive 7.9 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
50 xeroderma pigmentosum, complementation group d 7.9 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3

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



Diseases related to Xeroderma Pigmentosum, Complementation Group B
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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group B

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Human phenotypes related to Xeroderma Pigmentosum, Complementation Group B:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 intellectual disability 31 HP:0001249
3 microcephaly 31 HP:0000252
4 sensorineural hearing impairment 31 HP:0000407
5 optic atrophy 31 HP:0000648
6 short stature 31 HP:0004322
7 ataxia 31 HP:0001251
8 cutaneous photosensitivity 31 HP:0000992
9 decreased nerve conduction velocity 31 HP:0000762
10 hyperreflexia 31 HP:0001347
11 microphthalmia 31 HP:0000568
12 ventriculomegaly 31 HP:0002119
13 freckling 31 HP:0001480
14 cerebellar atrophy 31 HP:0001272
15 basal cell carcinoma 31 HP:0002671
16 squamous cell carcinoma of the skin 31 HP:0006739
17 cutaneous melanoma 31 HP:0012056
18 hypogonadism 31 HP:0000135
19 pigmentary retinopathy 31 HP:0000580
20 abnormal cns myelination 31 HP:0011400
21 dermal atrophy 31 HP:0004334
22 progeroid facial appearance 31 HP:0005328
23 basal ganglia calcification 31 HP:0002135
24 increased cellular sensitivity to uv light 31 HP:0003224

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Growth Height:
short stature

Neurologic Peripheral Nervous System:
decreased nerve conduction velocity
hyperreflexia

Skin Nails Hair Skin:
freckling
atrophic skin
photosensitivity
abnormal pigmentation

Laboratory Abnormalities:
increased cellular sensitivity to uv light
decreased dna excision repair

Head And Neck Face:
wizened face

Head And Neck Eyes:
optic atrophy
microphthalmia
pigmentary retinopathy
cataracts

Neurologic Central Nervous System:
ataxia
cerebellar atrophy
abnormal myelination
mental retardation
basal ganglia calcifications
more
Neoplasia:
melanoma
basal cell carcinoma
squamous cell carcinoma
increased risk of malignancy

Endocrine Features:
hypogonadism

Head And Neck Ears:
sensorineural deafness

Growth Weight:
cachectic appearance

Clinical features from OMIM:

610651

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group B:


ataxia

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.96 PUF60
2 Decreased viability GR00154-A 9.96 CDK7
3 Decreased viability GR00221-A-2 9.96 CDK7 GTF2H1
4 Decreased viability GR00221-A-4 9.96 CDK7 GTF2H1
5 Decreased viability GR00249-S 9.96 ERCC4 RAD23B
6 Decreased viability GR00301-A 9.96 CDK7
7 Decreased viability GR00381-A-1 9.96 DDB1 ERCC1 GTF2H2 GTF2H4
8 Decreased viability GR00386-A-1 9.96 ERCC3 ERCC5 ERCC6 GTF2H4 GTF2H5 RAD23B
9 Decreased viability GR00402-S-2 9.96 DDB1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 DDB2 ERCC4 ERCC5 ERCC6
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 DDB2 ERCC1 ERCC4 ERCC5 ERCC6
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 CCNH CDK7 CETN2 DDB1 DDB2 ERCC1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CDK7 CETN2 DDB1 DDB2 ERCC1 ERCC2
2 integument MP:0010771 9.81 CDK7 DDB2 ERCC1 ERCC2 ERCC3 ERCC5
3 mortality/aging MP:0010768 9.8 CDK7 CETN2 DDB1 DDB2 ERCC1 ERCC2
4 neoplasm MP:0002006 9.1 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 XPA
Sources

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group B

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

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group B

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Genetic tests related to Xeroderma Pigmentosum, Complementation Group B:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Complementation Group B 29 ERCC3
Sources

Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

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

40
Skin, Lung
Sources

Publications for Xeroderma Pigmentosum, Complementation Group B

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Articles related to Xeroderma Pigmentosum, Complementation Group B:

(show all 42)
# Title Authors PMID Year
1
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 56 6 61
8663148 1996
2
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 6 56
16947863 2006
3
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. 56 6
8304337 1994
4
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 6 56
8408834 1993
5
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. 56 6
2167179 1990
6
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 56 6
4811796 1974
7
Xeroderma Pigmentosum 6
20301571 2003
8
DNA repair. Seven genes for three diseases. 56
2005975 1991
9
Do we know the cause of xeroderma pigmentosum? 56
2189596 1990
10
Three complementation groups in Cockayne syndrome. 56
6185841 1982
11
Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters. 61
32434920 2020
12
Spironolactone and XPB: An Old Drug with a New Molecular Target. 61
32414008 2020
13
Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra. 61
29959982 2018
14
Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling. 61
29036418 2018
15
Nucleotide excision repair is a potential therapeutic target in multiple myeloma. 61
28588253 2018
16
Genetic Polymorphisms in XRCC1, CD3EAP, PPP1R13L, XPB, XPC, and XPF and the Risk of Chronic Benzene Poisoning in a Chinese Occupational Population. 61
26681190 2015
17
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. 61
23955590 2013
18
Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair. 61
16600867 2006
19
TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression. 61
15601838 2005
20
Functional XPB/RAD25 redundancy in Arabidopsis genome: characterization of AtXPB2 and expression analysis. 61
15656976 2005
21
Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity. 61
15549133 2004
22
p210 BCR/ABL kinase regulates nucleotide excision repair (NER) and resistance to UV radiation. 61
12829601 2003
23
Impact of p210(Bcr-Abl) on ultraviolet C wavelength-induced DNA damage and repair. 61
14506164 2003
24
[Effect of benzo[a]pyrene on DNA damage and expression of genes involved in nucleotide excision repair in lung cancer cells]. 61
14694596 2002
25
TFIIH action in transcription initiation and promoter escape requires distinct regions of downstream promoter DNA. 61
11331764 2001
26
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. 61
11077043 2000
27
Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. 61
11027286 2000
28
BCR binds to the xeroderma pigmentosum group B protein. 61
10403766 1999
29
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. 61
9874796 1999
30
Rapid changes of nucleotide excision repair gene expression following UV-irradiation and cisplatin treatment of Dictyostelium discoideum. 61
9649625 1998
31
p53-null cells are more sensitive to ultraviolet light only in the presence of caffeine. 61
8968086 1996
32
[The dual function of the proliferating cell nuclear antigen (PCNA) in the response of human cells to UV damages]. 61
9163104 1996
33
The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity. 61
7937133 1994
34
Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function. 61
8196650 1994
35
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). 61
8157004 1994
36
The COOH terminus of suppressor of stem loop (SSL2/RAD25) in yeast is essential for overall genomic excision repair and transcription-coupled repair. 61
8294433 1994
37
RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability. 61
1333609 1992
38
Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3. 61
1454518 1992
39
Requirement for ERCC-1 and ERCC-3 gene products in DNA excision repair in vitro. Complementation using rodent and human cell extracts. 61
1551896 1992
40
Molecular and functional analysis of the XPBC/ERCC-3 promoter: transcription activity is dependent on the integrity of an Sp1-binding site. 61
1741247 1992
41
Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome. 61
1956789 1991
42
Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21. 61
1916809 1991
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Variations for Xeroderma Pigmentosum, Complementation Group B

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

6 (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC3 NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)SNV Pathogenic 801749 2:128050197-128050197 2:127292621-127292621
2 ERCC3 NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter)SNV Pathogenic 627443 rs138385061 2:128047339-128047339 2:127289763-127289763
3 ERCC3 ERCC3, IVS14AS, C-A, -6SNV Pathogenic 16582
4 ERCC3 NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser)SNV Pathogenic 16583 rs121913045 2:128050361-128050361 2:127292785-127292785
5 ERCC3 NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter)SNV Pathogenic 16585 rs121913047 2:128044348-128044348 2:127286772-127286772
6 ERCC3 NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer)deletion Pathogenic 16586 rs866379139 2:128046925-128046926 2:127289349-127289350
7 ERCC3 NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter)SNV Pathogenic 16588 rs121913048 2:128036846-128036846 2:127279270-127279270
8 ERCC3 NM_000122.1(ERCC3):c.471+1G>ASNV Pathogenic 16589 rs1558964705 2:128050185-128050185 2:127292609-127292609
9 ERCC3 NM_000122.1(ERCC3):c.1421dup (p.Asp474fs)duplication Pathogenic 134130 rs587778281 2:128038128-128038129 2:127280552-127280553
10 ERCC3 NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter)SNV Pathogenic/Likely pathogenic 265515 rs34295337 2:128050332-128050332 2:127292756-127292756
11 ERCC3 NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)SNV Likely pathogenic 801744 2:128028924-128028924 2:127271348-127271348
12 ERCC3 NM_000122.1(ERCC3):c.2112G>A (p.Ser704=)SNV Conflicting interpretations of pathogenicity 331073 rs114710997 2:128016977-128016977 2:127259401-127259401
13 ERCC3 NM_000122.1(ERCC3):c.618C>T (p.Ala206=)SNV Conflicting interpretations of pathogenicity 331089 rs145830873 2:128047304-128047304 2:127289728-127289728
14 ERCC3 NM_000122.1(ERCC3):c.1929G>T (p.Val643=)SNV Conflicting interpretations of pathogenicity 331077 rs375556869 2:128028928-128028928 2:127271352-127271352
15 ERCC3 NM_000122.1(ERCC3):c.1155C>T (p.Asp385=)SNV Conflicting interpretations of pathogenicity 331082 rs371396764 2:128044466-128044466 2:127286890-127286890
16 ERCC3 NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu)SNV Conflicting interpretations of pathogenicity 134120 rs4150521 2:128016978-128016978 2:127259402-127259402
17 ERCC3 NM_000122.2(ERCC3):c.2218-5G>ASNV Conflicting interpretations of pathogenicity 695354 2:128015308-128015308 2:127257732-127257732
18 ERCC3 NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)SNV Conflicting interpretations of pathogenicity 710683 2:128015295-128015295 2:127257719-127257719
19 ERCC3 NM_000122.2(ERCC3):c.2218-6C>TSNV Conflicting interpretations of pathogenicity 758079 2:128015309-128015309 2:127257733-127257733
20 ERCC3 NM_000122.1(ERCC3):c.1887dup (p.Gly630fs)duplication Uncertain significance 632329 rs1558952235 2:128028969-128028970 2:127271393-127271394
21 ERCC3 NM_000122.1(ERCC3):c.1757_1758del (p.Gln586fs)deletion Uncertain significance 632330 rs774261851 2:128030510-128030511 2:127272934-127272935
22 ERCC3 NM_000122.1(ERCC3):c.794_795CA[1] (p.Gln266fs)short repeat Uncertain significance 631826 rs1558962530 2:128046938-128046939 2:127289362-127289363
23 ERCC3 NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys)SNV Uncertain significance 134128 rs145201970 2:128046416-128046416 2:127288840-127288840
24 ERCC3 NM_000122.2(ERCC3):c.*220G>CSNV Uncertain significance 892772 2:128014952-128014952 2:127257376-127257376
25 ERCC3 NM_000122.2(ERCC3):c.*138G>CSNV Uncertain significance 892773 2:128015034-128015034 2:127257458-127257458
26 ERCC3 NM_000122.2(ERCC3):c.*83C>TSNV Uncertain significance 893583 2:128015089-128015089 2:127257513-127257513
27 ERCC3 NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)SNV Uncertain significance 893584 2:128015297-128015297 2:127257721-127257721
28 ERCC3 NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)SNV Uncertain significance 893870 2:128017002-128017002 2:127259426-127259426
29 ERCC3 NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)SNV Uncertain significance 893871 2:128017009-128017009 2:127259433-127259433
30 ERCC3 NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)SNV Uncertain significance 893872 2:128018882-128018882 2:127261306-127261306
31 ERCC3 NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)SNV Uncertain significance 893873 2:128028946-128028946 2:127271370-127271370
32 ERCC3 NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)SNV Uncertain significance 894782 2:128038139-128038139 2:127280563-127280563
33 ERCC3 NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)SNV Uncertain significance 894783 2:128044439-128044439 2:127286863-127286863
34 ERCC3 NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)SNV Uncertain significance 892810 2:128044469-128044469 2:127286893-127286893
35 ERCC3 NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)SNV Uncertain significance 892811 2:128044511-128044511 2:127286935-127286935
36 ERCC3 NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg)SNV Uncertain significance 892812 2:128044545-128044545 2:127286969-127286969
37 ERCC3 NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)SNV Uncertain significance 893612 2:128047393-128047393 2:127289817-127289817
38 ERCC3 NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)SNV Uncertain significance 893613 2:128050343-128050343 2:127292767-127292767
39 ERCC3 NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)SNV Uncertain significance 893901 2:128051179-128051179 2:127293603-127293603
40 ERCC3 NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)SNV Uncertain significance 893902 2:128051192-128051192 2:127293616-127293616
41 ERCC3 NM_000122.2(ERCC3):c.-31G>ASNV Uncertain significance 893903 2:128051688-128051688 2:127294112-127294112
42 ERCC3 NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys)SNV Uncertain significance 331084 rs754010782 2:128044543-128044543 2:127286967-127286967
43 ERCC3 NM_000122.1(ERCC3):c.385G>A (p.Val129Ile)SNV Uncertain significance 331091 rs145762413 2:128050272-128050272 2:127292696-127292696
44 ERCC3 NM_000122.1(ERCC3):c.2106G>A (p.Ala702=)SNV Uncertain significance 331074 rs114508982 2:128016983-128016983 2:127259407-127259407
45 ERCC3 NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr)SNV Uncertain significance 331076 rs151216904 2:128017009-128017009 2:127259433-127259433
46 ERCC3 NM_000122.1(ERCC3):c.1731-11T>CSNV Uncertain significance 331078 rs746754189 2:128030548-128030548 2:127272972-127272972
47 ERCC3 NM_000122.1(ERCC3):c.1026C>T (p.Cys342=)SNV Uncertain significance 331086 rs752026166 2:128046237-128046237 2:127288661-127288661
48 ERCC3 NM_000122.1(ERCC3):c.822+14C>TSNV Uncertain significance 331087 rs200833462 2:128046899-128046899 2:127289323-127289323
49 ERCC3 NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys)SNV Uncertain significance 331094 rs767507847 2:128050403-128050403 2:127292827-127292827
50 ERCC3 NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn)SNV Uncertain significance 331081 rs374264195 2:128044465-128044465 2:127286889-127286889

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

73
# Symbol AA change Variation ID SNP ID
1 ERCC3 p.Phe99Ser VAR_003632 rs121913045

Sources

Expression for Xeroderma Pigmentosum, Complementation Group B

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

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.76 PUF60 H2AC18 GTF2H5 GTF2H4 GTF2H3 GTF2H2
2
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.7 H2AC18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
3
HIV Life Cycle 65
Show member pathways
 13.57 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
4
HIV Transcription Elongation 65
Show member pathways
 13.27 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
5
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 12.99 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
6
Regulation of TP53 Activity 65
Show member pathways
 12.97 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
7
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 65
Show member pathways
 12.84 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
8
Chks in Checkpoint Regulation 63
Show member pathways
 12.67 XPA RAD23B GTF2H3 GTF2H2 GTF2H1 ERCC6
9
DNA Double-Strand Break Repair 65
Show member pathways
 12.58 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
10
DNA Damage 4
12.54 XPA RAD23B ERCC4 ERCC3 ERCC2 ERCC1
11
Viral carcinogenesis 36
12.23 GTF2H4 GTF2H3 GTF2H2 GTF2H1 DDB1
12
RNA Polymerase I Promoter Escape 65
Show member pathways
 12 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
13
Nucleotide excision repair 36
Show member pathways
 11.97 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
14
Transcription_P53 signaling pathway 22
11.77 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
15
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.34 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.26 XPA RAD23B PUF60 H2AC18 GTF2H5 GTF2H4
2 nucleoplasm GO:0005654 10.13 XPA RAD23B PUF60 GTF2H5 GTF2H4 GTF2H3
3 transcription factor TFIID complex GO:0005669 9.8 GTF2H5 GTF2H4 GTF2H3 GTF2H2 ERCC3 ERCC2
4 nuclear chromosome, telomeric region GO:0000784 9.73 ERCC4 ERCC1 DDB1
5 nucleotide-excision repair complex GO:0000109 9.61 ERCC5 ERCC4 ERCC1
6 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.58 GTF2H4 GTF2H3 GTF2H2
7 DNA replication factor A complex GO:0005662 9.55 XPA ERCC5
8 transcriptional preinitiation complex GO:0097550 9.54 GTF2H3 ERCC3
9 nucleotide-excision repair factor 1 complex GO:0000110 9.54 XPA ERCC4 ERCC1
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.52 DDB2 DDB1
11 ERCC4-ERCC1 complex GO:0070522 9.51 ERCC4 ERCC1
12 transcription factor TFIIH core complex GO:0000439 9.5 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
13 XPC complex GO:0071942 9.49 RAD23B CETN2
14 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.48 CDK7 CCNH
15 transcription factor TFIIK complex GO:0070985 9.46 CDK7 CCNH
16 transcription factor TFIIH holo complex GO:0005675 9.28 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.29 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
2 nucleotide-excision repair, DNA incision GO:0033683 10.29 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
3 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.27 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.27 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
5 transcription initiation from RNA polymerase II promoter GO:0006367 10.25 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
6 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.25 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
7 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.22 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
8 7-methylguanosine mRNA capping GO:0006370 10.21 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
9 transcription elongation from RNA polymerase I promoter GO:0006362 10.21 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
10 global genome nucleotide-excision repair GO:0070911 10.21 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
11 transcription elongation from RNA polymerase II promoter GO:0006368 10.2 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
12 nucleotide-excision repair, preincision complex assembly GO:0006294 10.2 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
13 termination of RNA polymerase I transcription GO:0006363 10.19 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
14 transcription initiation from RNA polymerase I promoter GO:0006361 10.18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
15 response to UV GO:0009411 10.17 XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
16 nucleotide-excision repair GO:0006289 10.13 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
17 UV protection GO:0009650 10.06 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
18 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 10.05 GTF2H5 GTF2H4 GTF2H3 GTF2H1 CDK7 CCNH
19 transcription-coupled nucleotide-excision repair GO:0006283 10.03 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
20 response to oxidative stress GO:0006979 10.02 XPA ERCC6 ERCC3 ERCC2 ERCC1
21 nucleotide-excision repair, DNA damage recognition GO:0000715 10 XPA RAD23B DDB2 DDB1 CETN2
22 multicellular organism growth GO:0035264 9.93 XPA ERCC6 ERCC2 ERCC1
23 embryonic organ development GO:0048568 9.92 RAD23B ERCC3 ERCC2 ERCC1
24 UV-damage excision repair GO:0070914 9.91 XPA ERCC1 DDB2 DDB1
25 cellular response to DNA damage stimulus GO:0006974 9.89 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
26 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.85 ERCC5 ERCC4 ERCC1
27 regulation of mitotic cell cycle phase transition GO:1901990 9.85 ERCC3 ERCC2 DDB1
28 DNA duplex unwinding GO:0032508 9.84 ERCC6 ERCC3 ERCC2
29 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.84 GTF2H1 CDK7 CCNH
30 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.8 XPA ERCC6 ERCC1
31 response to X-ray GO:0010165 9.68 ERCC6 ERCC1
32 histone H2A monoubiquitination GO:0035518 9.67 DDB2 DDB1
33 hair cell differentiation GO:0035315 9.66 ERCC3 ERCC2
34 pyrimidine dimer repair GO:0006290 9.65 ERCC6 DDB2
35 negative regulation of telomere maintenance GO:0032205 9.65 ERCC4 ERCC1
36 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.65 ERCC4 ERCC1
37 telomeric DNA-containing double minutes formation GO:0061819 9.64 ERCC4 ERCC1
38 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.64 XPA ERCC4
39 DNA repair GO:0006281 9.55 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 XPA RAD23B PUF60 GTF2H5 GTF2H4 GTF2H3
2 DNA binding GO:0003677 10.14 XPA PUF60 H2AC18 ERCC6 ERCC5 ERCC4
3 protein kinase activity GO:0004672 9.91 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3 ERCC2
4 protein C-terminus binding GO:0008022 9.8 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1 CDK7
5 protein N-terminus binding GO:0047485 9.8 GTF2H3 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
6 single-stranded DNA binding GO:0003697 9.78 RAD23B ERCC5 ERCC4 ERCC1
7 damaged DNA binding GO:0003684 9.76 XPA RAD23B ERCC4 ERCC3 ERCC2 ERCC1
8 endonuclease activity GO:0004519 9.73 ERCC5 ERCC4 ERCC1
9 DNA helicase activity GO:0003678 9.7 ERCC6 ERCC3 ERCC2
10 promoter-specific chromatin binding GO:1990841 9.69 ERCC4 ERCC3 ERCC1
11 RNA polymerase II general transcription initiation factor activity GO:0016251 9.61 GTF2H4 GTF2H3 GTF2H2
12 endodeoxyribonuclease activity GO:0004520 9.57 ERCC5 ERCC4
13 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.56 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3 ERCC2
14 TFIID-class transcription factor complex binding GO:0001094 9.55 ERCC4 ERCC1
15 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 ERCC4 ERCC1
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.49 ERCC4 ERCC1
17 DNA-dependent ATPase activity GO:0008094 9.28 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6 ERCC3
Sources

Sources for Xeroderma Pigmentosum, Complementation Group B

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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