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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 57 29 6 39
Xeroderma Pigmentosum, Group B 57 13 70
Xeroderma Pigmentosum Group B 12 15
Xp Group B 12 72
Xpbc 57 12
Xpb 57 12
Xeroderma Pigmentosum Group B with Cockayne Syndrome 72
Xeroderma Pigmentosum Complementation Group B 72
Xeroderma Pigmentosum Ii 72
Xp, Group B; Xpbc 57
Xp, Group B 57
Xp-B/cs 72
Xp-B 72
Xp2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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 breast, skin and lung, and related phenotypes are intellectual disability and hyperreflexia

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

OMIM® : 57 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) (Updated 20-May-2021)

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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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.0 XPA RAD23B H2AC18 ERCC6 ERCC2 ERCC1
2 trichothiodystrophy 30.7 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
3 skin carcinoma 30.1 XPA H2AC18 ERCC6 ERCC3 ERCC2 DDB2
4 trichothiodystrophy 2, photosensitive 30.1 GTF2H5 ERCC3
5 cockayne syndrome b 30.0 ERCC6 ERCC1 DDB1
6 xeroderma pigmentosum-cockayne syndrome complex 29.9 ERCC5 ERCC4 ERCC3 ERCC2
7 autosomal recessive disease 29.7 XPA H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
8 xeroderma pigmentosum, complementation group f 29.0 XPA RAD23B ERCC6 ERCC5 ERCC4 ERCC3
9 xeroderma pigmentosum, complementation group c 28.7 XPA RAD23B H2AC18 GTF2H3 GTF2H1 ERCC6
10 cockayne syndrome 28.4 XPA H2AC18 GTF2H4 GTF2H3 GTF2H2 GTF2H1
11 xeroderma pigmentosum, variant type 28.0 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
12 xeroderma pigmentosum, complementation group g 27.2 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
13 leukemia, acute lymphoblastic 10.3
14 leukemia 10.3
15 photoparoxysmal response 1 10.3 XPA ERCC6 ERCC1
16 mutagen sensitivity 10.2 XPA RAD23B ERCC2
17 ifap syndrome 1, with or without bresheck syndrome 10.2 GTF2H5 ERCC3
18 gastroesophageal adenocarcinoma 10.2 XPA ERCC2 ERCC1
19 hair disease 10.2 H2AC18 ERCC6 ERCC3
20 trichothiodystrophy 1, photosensitive 10.1 GTF2H5 ERCC6 ERCC3 ERCC2
21 autosomal genetic disease 10.1 XPA H2AC18 ERCC6 ERCC1
22 phlebotomus fever 10.1 GTF2H4 GTF2H3 GTF2H2 GTF2H1
23 cerebrooculofacioskeletal syndrome 1 10.1 ERCC6 ERCC5 ERCC2 ERCC1
24 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
25 ocular cancer 10.0 XPA H2AC18 ERCC2
26 hutchinson-gilford progeria syndrome 10.0 XPA H2AC18 ERCC6 ERCC4 ERCC1
27 ovarian cancer 10.0
28 ovarian epithelial cancer 10.0
29 xeroderma pigmentosum, complementation group e 10.0 XPA ERCC5 DDB2 DDB1
30 acoustic neuroma 10.0 ERCC5 ERCC4 ERCC2
31 female breast cancer 9.9 ERCC5 ERCC4 ERCC2
32 fanconi anemia, complementation group d2 9.9
33 pulmonary hypertension, primary, 1 9.8
34 triiodothyronine receptor auxiliary protein 9.8
35 ataxia-telangiectasia 9.8
36 ataxia and polyneuropathy, adult-onset 9.8
37 lung cancer susceptibility 1 9.8
38 tumor predisposition syndrome 9.8
39 cutaneous telangiectasia and cancer syndrome, familial 9.8
40 pulmonary hypertension 9.8
41 telangiectasis 9.8
42 ichthyosis 9.8
43 hepatitis b 9.8
44 hepatitis 9.8
45 acne 9.8
46 inherited cancer-predisposing syndrome 9.8
47 premature aging 9.8
48 overgrowth syndrome 9.8
49 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
50 xfe progeroid syndrome 9.8 XPA GTF2H5 ERCC6 ERCC5 ERCC4 ERCC3

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 intellectual disability 31 HP:0001249
2 hyperreflexia 31 HP:0001347
3 ataxia 31 HP:0001251
4 cataract 31 HP:0000518
5 microcephaly 31 HP:0000252
6 sensorineural hearing impairment 31 HP:0000407
7 optic atrophy 31 HP:0000648
8 short stature 31 HP:0004322
9 decreased nerve conduction velocity 31 HP:0000762
10 microphthalmia 31 HP:0000568
11 ventriculomegaly 31 HP:0002119
12 freckling 31 HP:0001480
13 cutaneous photosensitivity 31 HP:0000992
14 squamous cell carcinoma of the skin 31 HP:0006739
15 basal cell carcinoma 31 HP:0002671
16 cutaneous melanoma 31 HP:0012056
17 cerebellar atrophy 31 HP:0001272
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®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
hyperreflexia
decreased nerve conduction velocity

Head And Neck Head:
microcephaly

Growth Height:
short stature

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

Neurologic Central Nervous System:
ataxia
cerebellar atrophy
abnormal myelination
mental retardation
basal ganglia calcifications
more
Head And Neck Eyes:
optic atrophy
microphthalmia
pigmentary retinopathy
cataracts

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 (Updated 20-May-2021)

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:

46
# 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
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Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

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

40
Breast, Skin, Lung
Sources

Publications for Xeroderma Pigmentosum, Complementation Group B

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Articles related to Xeroderma Pigmentosum, Complementation Group B:

(show all 41)
# 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. 61 57 6
8663148 1996
2
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 57 6
16947863 2006
3
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. 6 57
8304337 1994
4
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 6 57
8408834 1993
5
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. 57 6
2167179 1990
6
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 6 57
4811796 1974
7
DNA repair. Seven genes for three diseases. 57
2005975 1991
8
Do we know the cause of xeroderma pigmentosum? 57
2189596 1990
9
Three complementation groups in Cockayne syndrome. 57
6185841 1982
10
Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters. 61
32434920 2020
11
Spironolactone and XPB: An Old Drug with a New Molecular Target. 61
32414008 2020
12
Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra. 61
29959982 2018
13
Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling. 61
29036418 2018
14
Nucleotide excision repair is a potential therapeutic target in multiple myeloma. 61
28588253 2018
15
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
16
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. 61
23955590 2013
17
Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair. 61
16600867 2006
18
Functional XPB/RAD25 redundancy in Arabidopsis genome: characterization of AtXPB2 and expression analysis. 61
15656976 2005
19
TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression. 61
15601838 2005
20
Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity. 61
15549133 2004
21
p210 BCR/ABL kinase regulates nucleotide excision repair (NER) and resistance to UV radiation. 61
12829601 2003
22
Impact of p210(Bcr-Abl) on ultraviolet C wavelength-induced DNA damage and repair. 61
14506164 2003
23
[Effect of benzo[a]pyrene on DNA damage and expression of genes involved in nucleotide excision repair in lung cancer cells]. 61
14694596 2002
24
TFIIH action in transcription initiation and promoter escape requires distinct regions of downstream promoter DNA. 61
11331764 2001
25
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
26
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
27
BCR binds to the xeroderma pigmentosum group B protein. 61
10403766 1999
28
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. 61
9874796 1999
29
Rapid changes of nucleotide excision repair gene expression following UV-irradiation and cisplatin treatment of Dictyostelium discoideum. 61
9649625 1998
30
p53-null cells are more sensitive to ultraviolet light only in the presence of caffeine. 61
8968086 1996
31
[The dual function of the proliferating cell nuclear antigen (PCNA) in the response of human cells to UV damages]. 61
9163104 1996
32
The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity. 61
7937133 1994
33
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
34
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). 61
8157004 1994
35
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
36
RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability. 61
1333609 1992
37
Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3. 61
1454518 1992
38
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
39
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
40
Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome. 61
1956789 1991
41
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 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC3 ERCC3, IVS14AS, C-A, -6 SNV Pathogenic 16582 GRCh37:
GRCh38:
2 ERCC3 NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) SNV Pathogenic 16583 rs121913045 GRCh37: 2:128050361-128050361
GRCh38: 2:127292785-127292785
3 ERCC3 NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) SNV Pathogenic 16585 rs121913047 GRCh37: 2:128044348-128044348
GRCh38: 2:127286772-127286772
4 ERCC3 NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer) Deletion Pathogenic 16586 rs866379139 GRCh37: 2:128046925-128046926
GRCh38: 2:127289349-127289350
5 ERCC3 NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) SNV Pathogenic 16588 rs121913048 GRCh37: 2:128036846-128036846
GRCh38: 2:127279270-127279270
6 ERCC3 NM_000122.1(ERCC3):c.471+1G>A SNV Pathogenic 16589 rs1558964705 GRCh37: 2:128050185-128050185
GRCh38: 2:127292609-127292609
7 ERCC3 NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) SNV Pathogenic 627443 rs138385061 GRCh37: 2:128047339-128047339
GRCh38: 2:127289763-127289763
8 ERCC3 NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) SNV Pathogenic 801749 rs1404293670 GRCh37: 2:128050197-128050197
GRCh38: 2:127292621-127292621
9 ERCC3 NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) Duplication Pathogenic 134130 rs587778281 GRCh37: 2:128038128-128038129
GRCh38: 2:127280552-127280553
10 ERCC3 NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) SNV Pathogenic 265515 rs34295337 GRCh37: 2:128050332-128050332
GRCh38: 2:127292756-127292756
11 ERCC3 NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) SNV Likely pathogenic 801744 rs1404157087 GRCh37: 2:128028924-128028924
GRCh38: 2:127271348-127271348
12 ERCC3 NM_000122.1(ERCC3):c.822+14C>T SNV Uncertain significance 331087 rs200833462 GRCh37: 2:128046899-128046899
GRCh38: 2:127289323-127289323
13 ERCC3 NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) SNV Uncertain significance 331080 rs769083884 GRCh37: 2:128038179-128038179
GRCh38: 2:127280603-127280603
14 ERCC3 NM_000122.1(ERCC3):c.1929G>T (p.Val643=) SNV Uncertain significance 331077 rs375556869 GRCh37: 2:128028928-128028928
GRCh38: 2:127271352-127271352
15 ERCC3 NM_000122.1(ERCC3):c.618C>T (p.Ala206=) SNV Uncertain significance 331089 rs145830873 GRCh37: 2:128047304-128047304
GRCh38: 2:127289728-127289728
16 ERCC3 NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) SNV Uncertain significance 331086 rs752026166 GRCh37: 2:128046237-128046237
GRCh38: 2:127288661-127288661
17 ERCC3 NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) SNV Uncertain significance 331081 rs374264195 GRCh37: 2:128044465-128044465
GRCh38: 2:127286889-127286889
18 ERCC3 NM_000122.1(ERCC3):c.1731-11T>C SNV Uncertain significance 331078 rs746754189 GRCh37: 2:128030548-128030548
GRCh38: 2:127272972-127272972
19 ERCC3 NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) SNV Uncertain significance 331092 rs370115857 GRCh37: 2:128050298-128050298
GRCh38: 2:127292722-127292722
20 ERCC3 NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) SNV Uncertain significance 331084 rs754010782 GRCh37: 2:128044543-128044543
GRCh38: 2:127286967-127286967
21 ERCC3 NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) SNV Uncertain significance 331076 rs151216904 GRCh37: 2:128017009-128017009
GRCh38: 2:127259433-127259433
22 ERCC3 NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) SNV Uncertain significance 134128 rs145201970 GRCh37: 2:128046416-128046416
GRCh38: 2:127288840-127288840
23 ERCC3 NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) SNV Uncertain significance 134128 rs145201970 GRCh37: 2:128046416-128046416
GRCh38: 2:127288840-127288840
24 ERCC3 NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) SNV Uncertain significance 331073 rs114710997 GRCh37: 2:128016977-128016977
GRCh38: 2:127259401-127259401
25 ERCC3 NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) SNV Uncertain significance 710683 rs376593226 GRCh37: 2:128015295-128015295
GRCh38: 2:127257719-127257719
26 ERCC3 NM_000122.2(ERCC3):c.2218-5G>A SNV Uncertain significance 695354 rs201054106 GRCh37: 2:128015308-128015308
GRCh38: 2:127257732-127257732
27 ERCC3 NM_000122.2(ERCC3):c.2218-6C>T SNV Uncertain significance 758079 rs200733704 GRCh37: 2:128015309-128015309
GRCh38: 2:127257733-127257733
28 ERCC3 NM_000122.1(ERCC3):c.794_795CA[1] (p.Gln266fs) Microsatellite Uncertain significance 631826 rs1558962530 GRCh37: 2:128046938-128046939
GRCh38: 2:127289362-127289363
29 ERCC3 NM_000122.1(ERCC3):c.1887dup (p.Gly630fs) Duplication Uncertain significance 632329 rs1558952235 GRCh37: 2:128028969-128028970
GRCh38: 2:127271393-127271394
30 ERCC3 NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) SNV Uncertain significance 893613 GRCh37: 2:128050343-128050343
GRCh38: 2:127292767-127292767
31 ERCC3 NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) SNV Uncertain significance 894782 GRCh37: 2:128038139-128038139
GRCh38: 2:127280563-127280563
32 ERCC3 NM_000122.1(ERCC3):c.1757_1758del (p.Gln586fs) Deletion Uncertain significance 632330 rs774261851 GRCh37: 2:128030510-128030511
GRCh38: 2:127272934-127272935
33 ERCC3 NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) SNV Uncertain significance 331094 rs767507847 GRCh37: 2:128050403-128050403
GRCh38: 2:127292827-127292827
34 ERCC3 NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) SNV Uncertain significance 331091 rs145762413 GRCh37: 2:128050272-128050272
GRCh38: 2:127292696-127292696
35 ERCC3 NM_000122.1(ERCC3):c.657+15G>A SNV Uncertain significance 331088 rs781533251 GRCh37: 2:128047250-128047250
GRCh38: 2:127289674-127289674
36 ERCC3 NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) SNV Uncertain significance 331082 rs371396764 GRCh37: 2:128044466-128044466
GRCh38: 2:127286890-127286890
37 ERCC3 NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) SNV Uncertain significance 331074 rs114508982 GRCh37: 2:128016983-128016983
GRCh38: 2:127259407-127259407
38 ERCC3 NM_000122.1(ERCC3):c.28+8G>A SNV Uncertain significance 331096 rs886054844 GRCh37: 2:128051622-128051622
GRCh38: 2:127294046-127294046
39 ERCC3 NM_000122.2(ERCC3):c.*220G>C SNV Uncertain significance 892772 GRCh37: 2:128014952-128014952
GRCh38: 2:127257376-127257376
40 ERCC3 NM_000122.2(ERCC3):c.*138G>C SNV Uncertain significance 892773 GRCh37: 2:128015034-128015034
GRCh38: 2:127257458-127257458
41 ERCC3 NM_000122.2(ERCC3):c.1152T>C (p.Ile384=) SNV Uncertain significance 892810 GRCh37: 2:128044469-128044469
GRCh38: 2:127286893-127286893
42 ERCC3 NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) SNV Uncertain significance 892811 GRCh37: 2:128044511-128044511
GRCh38: 2:127286935-127286935
43 ERCC3 NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg) SNV Uncertain significance 892812 GRCh37: 2:128044545-128044545
GRCh38: 2:127286969-127286969
44 ERCC3 NM_000122.2(ERCC3):c.*83C>T SNV Uncertain significance 893583 GRCh37: 2:128015089-128015089
GRCh38: 2:127257513-127257513
45 ERCC3 NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) SNV Uncertain significance 893584 GRCh37: 2:128015297-128015297
GRCh38: 2:127257721-127257721
46 ERCC3 NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) SNV Uncertain significance 893612 GRCh37: 2:128047393-128047393
GRCh38: 2:127289817-127289817
47 ERCC3 NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) SNV Uncertain significance 893870 GRCh37: 2:128017002-128017002
GRCh38: 2:127259426-127259426
48 ERCC3 NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) SNV Uncertain significance 893871 GRCh37: 2:128017009-128017009
GRCh38: 2:127259433-127259433
49 ERCC3 NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) SNV Uncertain significance 893872 GRCh37: 2:128018882-128018882
GRCh38: 2:127261306-127261306
50 ERCC3 NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) SNV Uncertain significance 893873 GRCh37: 2:128028946-128028946
GRCh38: 2:127271370-127271370

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

72
# 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.
Sources

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
 13.73 H2AC18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
3
HIV Life Cycle 65
Show member pathways
 13.57 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
4
Formation of HIV-1 elongation complex containing HIV-1 Tat 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 23
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 10.32 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 9.73 GTF2H5 GTF2H4 GTF2H3 GTF2H2 ERCC3 ERCC2
4 nucleotide-excision repair complex GO:0000109 9.63 ERCC5 ERCC4 ERCC1
5 CAK-ERCC2 complex GO:0070516 9.61 ERCC2 CDK7 CCNH
6 transcription factor TFIIH holo complex GO:0005675 9.61 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
7 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.58 GTF2H4 GTF2H3 GTF2H2
8 DNA replication factor A complex GO:0005662 9.56 XPA ERCC5
9 transcriptional preinitiation complex GO:0097550 9.55 GTF2H3 ERCC3
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.54 DDB2 DDB1
11 nucleotide-excision repair factor 1 complex GO:0000110 9.54 XPA ERCC4 ERCC1
12 ERCC4-ERCC1 complex GO:0070522 9.52 ERCC4 ERCC1
13 XPC complex GO:0071942 9.51 RAD23B CETN2
14 transcription factor TFIIK complex GO:0070985 9.49 CDK7 CCNH
15 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.48 CDK7 CCNH
16 transcription factor TFIIH core complex GO:0000439 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 40)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.29 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
2 transcription by RNA polymerase II GO:0006366 10.27 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
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 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.25 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
6 transcription initiation from RNA polymerase II promoter GO:0006367 10.24 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
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 10.14 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
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 nucleotide-excision repair, DNA damage recognition GO:0000715 10 XPA RAD23B DDB2 DDB1 CETN2
21 response to oxidative stress GO:0006979 9.94 ERCC6 ERCC3 ERCC2 ERCC1
22 embryonic organ development GO:0048568 9.92 RAD23B ERCC3 ERCC2 ERCC1
23 UV-damage excision repair GO:0070914 9.91 XPA ERCC1 DDB2 DDB1
24 cellular response to DNA damage stimulus GO:0006974 9.89 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
25 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.86 ERCC5 ERCC4 ERCC1
26 transcription, DNA-templated GO:0006351 9.85 GTF2H2 GTF2H1 CCNH
27 DNA duplex unwinding GO:0032508 9.84 ERCC6 ERCC3 ERCC2
28 regulation of mitotic cell cycle phase transition GO:1901990 9.84 ERCC3 ERCC2 DDB1
29 multicellular organism growth GO:0035264 9.83 ERCC6 ERCC2 ERCC1
30 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.83 GTF2H1 CDK7 CCNH
31 response to X-ray GO:0010165 9.68 ERCC6 ERCC1
32 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.68 ERCC6 ERCC1
33 histone H2A monoubiquitination GO:0035518 9.67 DDB2 DDB1
34 hair cell differentiation GO:0035315 9.65 ERCC3 ERCC2
35 pyrimidine dimer repair GO:0006290 9.65 ERCC6 DDB2
36 negative regulation of telomere maintenance GO:0032205 9.64 ERCC4 ERCC1
37 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.63 ERCC4 ERCC1
38 telomeric DNA-containing double minutes formation GO:0061819 9.63 ERCC4 ERCC1
39 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 XPA ERCC4
40 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 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.4 XPA RAD23B PUF60 H2AC18 GTF2H5 GTF2H4
2 DNA binding GO:0003677 10.06 XPA PUF60 H2AC18 ERCC6 ERCC5 ERCC4
3 endonuclease activity GO:0004519 9.71 ERCC5 ERCC4 ERCC1
4 single-stranded DNA binding GO:0003697 9.67 RAD23B ERCC5 ERCC4 ERCC1
5 DNA helicase activity GO:0003678 9.65 ERCC6 ERCC3 ERCC2
6 promoter-specific chromatin binding GO:1990841 9.63 ERCC4 ERCC3 ERCC1
7 protein C-terminus binding GO:0008022 9.63 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1 CDK7
8 RNA polymerase II general transcription initiation factor activity GO:0016251 9.56 GTF2H4 GTF2H3 GTF2H2 CCNH
9 endodeoxyribonuclease activity GO:0004520 9.52 ERCC5 ERCC4
10 TFIID-class transcription factor complex binding GO:0001094 9.51 ERCC4 ERCC1
11 protein N-terminus binding GO:0047485 9.5 GTF2H3 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC4 ERCC1
13 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC4 ERCC1
14 damaged DNA binding GO:0003684 9.23 XPA RAD23B ERCC4 ERCC3 ERCC2 ERCC1
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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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