XPB
MCID: XRD032
MIFTS: 49

Xeroderma Pigmentosum, Complementation Group B (XPB)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group B

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group B:

Name: Xeroderma Pigmentosum, Complementation Group B 57
Xeroderma Pigmentosum Group B 11 28 5 14
Xeroderma Pigmentosum, Group B 57 12 71
Xpb 57 11 75
Xp Group B 11 73
Xpbc 57 11
Xeroderma Pigmentosum Group B with Cockayne Syndrome 73
Xeroderma Pigmentosum Complementation Group B 73
Xeroderma Pigmentosum Ii 73
Xp, Group B 57
Xp-B/cs 73
Xp-B 73
Xp2 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group B

UniProtKB/Swiss-Prot: 73 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 xeroderma pigmentosum-cockayne syndrome complex, 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 RNA Polymerase I Promoter Opening and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include skin, b cells and breast, and related phenotypes are intellectual disability and hyperreflexia

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 08-Dec-2022)

Disease Ontology: 11 A xeroderma pigmentosum characterized by that has material basis in mutation in the ERCC3 gene on chromosome 2q14.

Wikipedia: 75 XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group B

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 61)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.0 XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
2 xeroderma pigmentosum-cockayne syndrome complex 30.3 ERCC3 ERCC2
3 skin carcinoma 30.2 XPA ERCC6 ERCC3 ERCC2
4 trichothiodystrophy 30.1 XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
5 trichothiodystrophy 2, photosensitive 30.0 ERCC3 ERCC2
6 photoparoxysmal response 1 29.9 XPA ERCC6
7 cockayne syndrome 29.6 XPA GTF2H2 ERCC6 ERCC3 ERCC2 ERCC1
8 xeroderma pigmentosum, complementation group d 29.5 XPA GTF2H5 ERCC3 ERCC2 ERCC1 CCNH
9 xeroderma pigmentosum, complementation group f 29.2 XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
10 xeroderma pigmentosum, complementation group c 29.2 XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
11 trichothiodystrophy 3, photosensitive 29.2 GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2
12 cockayne syndrome b 29.2 XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
13 xeroderma pigmentosum, variant type 29.2 XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
14 xeroderma pigmentosum, complementation group g 28.2 XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
15 leukemia, acute lymphoblastic 10.3
16 ovarian cancer 10.3
17 ovarian cancer 1 10.3
18 leukemia, chronic myeloid 10.1
19 lung cancer 10.1
20 rothmund-thomson syndrome, type 2 10.1 ERCC6 ERCC3 ERCC2
21 trichothiodystrophy 1, photosensitive 10.1 GTF2H5 ERCC3 ERCC2
22 cerebrooculofacioskeletal syndrome 2 10.1 ERCC6 ERCC2
23 skin benign neoplasm 10.0 XPA ERCC3 ERCC2
24 xeroderma pigmentosum group e 10.0 XPA GTF2H5 ERCC6
25 cerebrooculofacioskeletal syndrome 4 10.0 POLR1G ERCC1
26 acne 10.0
27 ovarian epithelial cancer 10.0
28 henoch-schoenlein purpura 10.0
29 parkinsonism with spasticity, x-linked 9.9 GTF2H2 ERCC3 ERCC2
30 fanconi anemia, complementation group d2 9.9
31 testicular cancer 9.9 ERCC6 ERCC2 ERCC1
32 pulmonary hypertension, primary, 1 9.9
33 ataxia-telangiectasia 9.9
34 mycobacterium tuberculosis 1 9.9
35 lung cancer susceptibility 1 9.9
36 pulmonary hypertension 9.9
37 leukemia 9.9
38 telangiectasis 9.9
39 ichthyosis 9.9
40 hepatitis b 9.9
41 hepatitis 9.9
42 adenocarcinoma 9.9
43 turner syndrome 9.9
44 bap1 tumor predisposition syndrome 9.9
45 human t-cell leukemia virus type 1 9.9
46 inherited cancer-predisposing syndrome 9.9
47 premature aging 9.9
48 overgrowth syndrome 9.9
49 twin-reversed arterial perfusion sequence 9.9
50 aplastic anemia 9.8 XPA ERCC6 ERCC2 ERCC1

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



Diseases related to Xeroderma Pigmentosum, Complementation Group B

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group B

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group B:

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 hyperreflexia 30 HP:0001347
3 ataxia 30 HP:0001251
4 cataract 30 HP:0000518
5 microcephaly 30 HP:0000252
6 sensorineural hearing impairment 30 HP:0000407
7 optic atrophy 30 HP:0000648
8 short stature 30 HP:0004322
9 decreased nerve conduction velocity 30 HP:0000762
10 microphthalmia 30 HP:0000568
11 ventriculomegaly 30 HP:0002119
12 freckling 30 HP:0001480
13 cutaneous photosensitivity 30 HP:0000992
14 squamous cell carcinoma of the skin 30 HP:0006739
15 basal cell carcinoma 30 HP:0002671
16 cutaneous melanoma 30 HP:0012056
17 cerebellar atrophy 30 HP:0001272
18 hypogonadism 30 HP:0000135
19 pigmentary retinopathy 30 HP:0000580
20 abnormal cns myelination 30 HP:0011400
21 dermal atrophy 30 HP:0004334
22 progeroid facial appearance 30 HP:0005328
23 basal ganglia calcification 30 HP:0002135
24 increased cellular sensitivity to uv light 30 HP:0003224

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 ERCC1 ERCC6 LIG1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 CCNH ERCC1 ERCC2 ERCC3 ERCC6 GTF2H5

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.43 ERCC1 ERCC2 ERCC3 ERCC6 LIG1 XPA
2 integument MP:0010771 9.17 ERCC1 ERCC2 ERCC3 ERCC6 EVPL LIG1

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group B

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

Genetic Tests for Xeroderma Pigmentosum, Complementation Group B

Genetic tests related to Xeroderma Pigmentosum, Complementation Group B:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum Group B 28 ERCC3

Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group B:

MalaCards : Skin, B Cells, Breast, Lung

Publications for Xeroderma Pigmentosum, Complementation Group B

Articles related to Xeroderma Pigmentosum, Complementation Group B:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 62 57 5
16947863 2006
2
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 62 57 5
8663148 1996
3
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. 62 57 5
8304337 1994
4
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. 62 57 5
2167179 1990
5
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 57 5
8408834 1993
6
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 57 5
4811796 1974
7
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
8
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. 5
27655433 2016
9
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 5
27004399 2016
10
DNA repair. Seven genes for three diseases. 57
2005975 1991
11
Do we know the cause of xeroderma pigmentosum? 57
2189596 1990
12
Three complementation groups in Cockayne syndrome. 57
6185841 1982
13
Vitamin D and COVID-19 - Let's Explore the Relationship! 62
35261665 2021
14
Ocular Surface Squamous Neoplasia Following Keratoplasty in Xeroderma Pigmentosa: A Series of Seven Cases. 62
33908328 2021
15
A Comparison of Efficacy and Safety of Fractional Carbon Dioxide Laser and Fractional Er:YAG Laser for the Treatment of Xanthelasma Palpebrarum: A Two-Center Randomized Split-Face Controlled Trial. 62
33449843 2021
16
Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters. 62
32434920 2020
17
Spironolactone and XPB: An Old Drug with a New Molecular Target. 62
32414008 2020
18
Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression. 62
30894545 2019
19
Understanding and predicting a complex behavior using n-of-1 methods: Photoprotection in xeroderma pigmentosum. 62
30221970 2018
20
Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra. 62
29959982 2018
21
Nucleotide excision repair is a potential therapeutic target in multiple myeloma. 62
28588253 2018
22
Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling. 62
29036418 2018
23
Xeroderma pigmentosum-Cockayne syndrome complex. 62
28376890 2017
24
Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. 62
26184184 2015
25
Genetic Polymorphisms in XRCC1, CD3EAP, PPP1R13L, XPB, XPC, and XPF and the Risk of Chronic Benzene Poisoning in a Chinese Occupational Population. 62
26681190 2015
26
Cdt2-mediated XPG degradation promotes gap-filling DNA synthesis in nucleotide excision repair. 62
25483071 2015
27
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. 62
23955590 2013
28
Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair. 62
23083890 2012
29
Dermatological manifestations of inherited cancer syndromes in children. 62
20973772 2011
30
UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells. 62
20947453 2011
31
Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells. 62
21176161 2010
32
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. 62
17509950 2007
33
Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. 62
17466626 2007
34
Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair. 62
16600867 2006
35
TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression. 62
15601838 2005
36
Functional XPB/RAD25 redundancy in Arabidopsis genome: characterization of AtXPB2 and expression analysis. 62
15656976 2005
37
Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity. 62
15549133 2004
38
p210 BCR/ABL kinase regulates nucleotide excision repair (NER) and resistance to UV radiation. 62
12829601 2003
39
Impact of p210(Bcr-Abl) on ultraviolet C wavelength-induced DNA damage and repair. 62
14506164 2003
40
[Effect of benzo[a]pyrene on DNA damage and expression of genes involved in nucleotide excision repair in lung cancer cells]. 62
14694596 2002
41
P53 plays a protective role against UV- and cisplatin-induced apoptosis in transcription-coupled repair proficient fibroblasts. 62
11709715 2001
42
TFIIH action in transcription initiation and promoter escape requires distinct regions of downstream promoter DNA. 62
11331764 2001
43
Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. 62
11239393 2001
44
Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. 62
11037299 2001
45
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. 62
11077043 2000
46
Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. 62
11027286 2000
47
Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. 62
10786832 2000
48
BCR binds to the xeroderma pigmentosum group B protein. 62
10403766 1999
49
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. 62
10064601 1999
50
UV-enhanced reactivation of a UV-damaged reporter gene suggests transcription-coupled repair is UV-inducible in human cells. 62
9934845 1999

Variations for Xeroderma Pigmentosum, Complementation Group B

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

5 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC3 NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) SNV Pathogenic
627443 rs138385061 GRCh37: 2:128047339-128047339
GRCh38: 2:127289763-127289763
2 ERCC3 NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) SNV Pathogenic
801749 rs1404293670 GRCh37: 2:128050197-128050197
GRCh38: 2:127292621-127292621
3 ERCC3 NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) SNV Pathogenic
1319556 GRCh37: 2:128044459-128044459
GRCh38: 2:127286883-127286883
4 ERCC3 NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) SNV Pathogenic
16585 rs121913047 GRCh37: 2:128044348-128044348
GRCh38: 2:127286772-127286772
5 ERCC3 NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) DEL Pathogenic
16586 rs866379139 GRCh37: 2:128046925-128046926
GRCh38: 2:127289349-127289350
6 ERCC3 NM_000122.2(ERCC3):c.471+1G>A SNV Pathogenic
16589 rs1558964705 GRCh37: 2:128050185-128050185
GRCh38: 2:127292609-127292609
7 ERCC3 NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) DUP Pathogenic
134130 rs587778281 GRCh37: 2:128038128-128038129
GRCh38: 2:127280552-127280553
8 ERCC3 NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) SNV Pathogenic
265515 rs34295337 GRCh37: 2:128050332-128050332
GRCh38: 2:127292756-127292756
9 ERCC3 NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) SNV Pathogenic
16588 rs121913048 GRCh37: 2:128036846-128036846
GRCh38: 2:127279270-127279270
10 ERCC3 NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) SNV Pathogenic
16583 rs121913045 GRCh37: 2:128050361-128050361
GRCh38: 2:127292785-127292785
11 ERCC3 NM_000122.2(ERCC3):c.2218-6C>A SNV Pathogenic
16582 GRCh37: 2:128015309-128015309
GRCh38: 2:127257733-127257733
12 ERCC3 NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) SNV Likely Pathogenic
995893 GRCh37: 2:128038196-128038196
GRCh38: 2:127280620-127280620
13 ERCC3 NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) SNV Likely Pathogenic
801744 rs1404157087 GRCh37: 2:128028924-128028924
GRCh38: 2:127271348-127271348
14 ERCC3 NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) SNV Uncertain Significance
331082 rs371396764 GRCh37: 2:128044466-128044466
GRCh38: 2:127286890-127286890
15 ERCC3 NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) SNV Uncertain Significance
331074 rs114508982 GRCh37: 2:128016983-128016983
GRCh38: 2:127259407-127259407
16 ERCC3 NM_000122.2(ERCC3):c.1929G>T (p.Val643=) SNV Uncertain Significance
331077 rs375556869 GRCh37: 2:128028928-128028928
GRCh38: 2:127271352-127271352
17 ERCC3 NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu) SNV Uncertain Significance
1319557 GRCh37: 2:128044491-128044491
GRCh38: 2:127286915-127286915
18 ERCC3 NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe) SNV Uncertain Significance
1319558 GRCh37: 2:128046248-128046248
GRCh38: 2:127288672-127288672
19 ERCC3 NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys) SNV Uncertain Significance
331084 rs754010782 GRCh37: 2:128044543-128044543
GRCh38: 2:127286967-127286967
20 ERCC3 NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) SNV Uncertain Significance
894782 rs371627165 GRCh37: 2:128038139-128038139
GRCh38: 2:127280563-127280563
21 ERCC3 NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) SNV Uncertain Significance
331080 rs769083884 GRCh37: 2:128038179-128038179
GRCh38: 2:127280603-127280603
22 ERCC3 NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) SNV Uncertain Significance
331086 rs752026166 GRCh37: 2:128046237-128046237
GRCh38: 2:127288661-127288661
23 ERCC3 NM_000122.2(ERCC3):c.*83C>T SNV Uncertain Significance
893583 rs1684047924 GRCh37: 2:128015089-128015089
GRCh38: 2:127257513-127257513
24 ERCC3 NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) SNV Uncertain Significance
893612 rs139690693 GRCh37: 2:128047393-128047393
GRCh38: 2:127289817-127289817
25 ERCC3 NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) SNV Uncertain Significance
893871 rs151216904 GRCh37: 2:128017009-128017009
GRCh38: 2:127259433-127259433
26 ERCC3 NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) SNV Uncertain Significance
893872 rs1419254389 GRCh37: 2:128018882-128018882
GRCh38: 2:127261306-127261306
27 ERCC3 NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) SNV Uncertain Significance
893902 rs771345526 GRCh37: 2:128051192-128051192
GRCh38: 2:127293616-127293616
28 ERCC3 NM_000122.2(ERCC3):c.-31G>A SNV Uncertain Significance
893903 rs766435259 GRCh37: 2:128051688-128051688
GRCh38: 2:127294112-127294112
29 ERCC3 NM_000122.2(ERCC3):c.822+5G>A SNV Uncertain Significance
1319239 GRCh37: 2:128046908-128046908
GRCh38: 2:127289332-127289332
30 ERCC3 NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg) SNV Uncertain Significance
1319240 GRCh37: 2:128047821-128047821
GRCh38: 2:127290245-127290245
31 ERCC3 NM_000122.2(ERCC3):c.2259C>T (p.Ala753=) SNV Uncertain Significance
1319550 GRCh37: 2:128015262-128015262
GRCh38: 2:127257686-127257686
32 ERCC3 NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys) SNV Uncertain Significance
1319551 GRCh37: 2:128028957-128028957
GRCh38: 2:127271381-127271381
33 ERCC3 NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe) SNV Uncertain Significance
1319552 GRCh37: 2:128028962-128028962
GRCh38: 2:127271386-127271386
34 ERCC3 NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln) SNV Uncertain Significance
1319553 GRCh37: 2:128036920-128036920
GRCh38: 2:127279344-127279344
35 ERCC3 NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) MICROSAT Uncertain Significance
631826 rs1558962530 GRCh37: 2:128046938-128046939
GRCh38: 2:127289362-127289363
36 ERCC3 NM_000122.2(ERCC3):c.28+8G>A SNV Uncertain Significance
331096 rs886054844 GRCh37: 2:128051622-128051622
GRCh38: 2:127294046-127294046
37 ERCC3 NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys) SNV Uncertain Significance
331094 rs767507847 GRCh37: 2:128050403-128050403
GRCh38: 2:127292827-127292827
38 ERCC3 NM_000122.2(ERCC3):c.657+15G>A SNV Uncertain Significance
331088 rs781533251 GRCh37: 2:128047250-128047250
GRCh38: 2:127289674-127289674
39 ERCC3 NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) SNV Uncertain Significance
331092 rs370115857 GRCh37: 2:128050298-128050298
GRCh38: 2:127292722-127292722
40 ERCC3 NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn) SNV Uncertain Significance
331081 rs374264195 GRCh37: 2:128044465-128044465
GRCh38: 2:127286889-127286889
41 ERCC3 NM_000122.2(ERCC3):c.2218-6C>T SNV Uncertain Significance
758079 rs200733704 GRCh37: 2:128015309-128015309
GRCh38: 2:127257733-127257733
42 ERCC3 NM_000122.2(ERCC3):c.2218-5G>A SNV Uncertain Significance
695354 rs201054106 GRCh37: 2:128015308-128015308
GRCh38: 2:127257732-127257732
43 ERCC3 NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) SNV Uncertain Significance
893584 rs368664230 GRCh37: 2:128015297-128015297
GRCh38: 2:127257721-127257721
44 ERCC3 NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) SNV Uncertain Significance
710683 rs376593226 GRCh37: 2:128015295-128015295
GRCh38: 2:127257719-127257719
45 ERCC3 NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) SNV Uncertain Significance
1319554 GRCh37: 2:128036930-128036930
GRCh38: 2:127279354-127279354
46 ERCC3 NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) SNV Uncertain Significance
893901 rs149309991 GRCh37: 2:128051179-128051179
GRCh38: 2:127293603-127293603
47 ERCC3 NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) SNV Uncertain Significance
893873 rs1258857605 GRCh37: 2:128028946-128028946
GRCh38: 2:127271370-127271370
48 ERCC3 NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) SNV Uncertain Significance
893870 rs201806429 GRCh37: 2:128017002-128017002
GRCh38: 2:127259426-127259426
49 ERCC3 NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) SNV Uncertain Significance
893613 rs116713511 GRCh37: 2:128050343-128050343
GRCh38: 2:127292767-127292767
50 ERCC3 NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) SNV Uncertain Significance
Uncertain Significance
134128 rs145201970 GRCh37: 2:128046416-128046416
GRCh38: 2:127288840-127288840

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

Expression for Xeroderma Pigmentosum, Complementation Group B

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

Pathways for Xeroderma Pigmentosum, Complementation Group B

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 POLR1G GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2
2
Show member pathways
13.18 PUF60 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
3
Show member pathways
12.97 XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
4
Show member pathways
12.91 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
5
Show member pathways
12.78 LIG1 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
6
Show member pathways
12.73 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
7
Show member pathways
12.69 CCNH ERCC2 ERCC3 GTF2H2 GTF2H5
8
Show member pathways
12.54 CCNH ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2
9
Show member pathways
12.44 ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2 LIG1
10 12.3 XPA ERCC3 ERCC2 ERCC1 CCNH
11
Show member pathways
12.17 XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
12 11.53 XPA GTF2H5 GTF2H2 ERCC3 ERCC2
13 11.12 XPA ERCC6 ERCC3 ERCC2 ERCC1
14
Show member pathways
11.12 POLR1G GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2

GO Terms for Xeroderma Pigmentosum, Complementation Group B

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.45 XPA PUF60 POLR1G MRNIP LIG1 GTF2H5
2 transcription factor TFIID complex GO:0005669 9.76 GTF2H5 GTF2H2 ERCC3 ERCC2
3 transcription factor TFIIH holo complex GO:0005675 9.65 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
4 CAK-ERCC2 complex GO:0070516 9.62 ERCC2 CCNH
5 nucleotide-excision repair factor 1 complex GO:0000110 9.56 ERCC1 XPA
6 transcription factor TFIIH core complex GO:0000439 9.32 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.18 CCNH ERCC2 ERCC3 ERCC6 GTF2H2 GTF2H5
2 response to oxidative stress GO:0006979 10.13 ERCC6 ERCC3 ERCC2 ERCC1
3 transcription initiation at RNA polymerase II promoter GO:0006367 10.08 GTF2H5 GTF2H2 ERCC3 CCNH
4 multicellular organism growth GO:0035264 10.05 ERCC6 ERCC2 ERCC1
5 response to UV GO:0009411 10 GTF2H2 ERCC6 ERCC3 ERCC2
6 base-excision repair GO:0006284 9.99 ERCC6 LIG1 XPA
7 transcription-coupled nucleotide-excision repair GO:0006283 9.91 ERCC6 ERCC3 ERCC2
8 response to X-ray GO:0010165 9.88 ERCC6 ERCC1
9 UV-damage excision repair GO:0070914 9.87 XPA ERCC1
10 regulation of mitotic cell cycle phase transition GO:1901990 9.86 ERCC3 ERCC2
11 UV protection GO:0009650 9.86 XPA ERCC3 ERCC2 ERCC1
12 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.85 GTF2H5 CCNH
13 transcription elongation by RNA polymerase I GO:0006362 9.85 GTF2H5 ERCC6 ERCC2
14 cellular response to DNA damage stimulus GO:0006974 9.85 ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2 GTF2H5
15 hair cell differentiation GO:0035315 9.84 ERCC3 ERCC2
16 DNA repair GO:0006281 9.8 XPA MRNIP LIG1 GTF2H5 GTF2H2 ERCC6
17 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.67 ERCC3 ERCC2
18 obsolete nucleotide-excision repair, DNA incision GO:0033683 9.62 XPA ERCC3 ERCC2
19 nucleotide-excision repair GO:0006289 9.36 XPA GTF2H5 GTF2H2 ERCC3 ERCC2 ERCC1

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.86 ERCC6 ERCC3 ERCC2 ERCC1
2 protein N-terminus binding GO:0047485 9.56 GTF2H2 ERCC6 ERCC3 ERCC2
3 helicase activity GO:0004386 9.5 ERCC6 ERCC3 ERCC2
4 DNA helicase activity GO:0003678 9.46 ERCC6 ERCC3 ERCC2
5 damaged DNA binding GO:0003684 9.23 XPA ERCC3 ERCC2 ERCC1

Sources for Xeroderma Pigmentosum, Complementation Group B

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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