MCID: CCK007
MIFTS: 51

Cockayne Syndrome B

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Cockayne Syndrome B

MalaCards integrated aliases for Cockayne Syndrome B:

Name: Cockayne Syndrome B 57 75 29 6
Cockayne Syndrome, Type B 57 13 40
Csb 57 75
Cockayne Syndrome, Type Ii 73
Ckn2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two types, type i or type a (classical cockayne syndrome, ) and type ii or type b (severe cockayne syndrome, )
characteristic face and body by age 2 years
death by age 6-7 years
death from pneumonia


HPO:

32
cockayne syndrome b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cockayne Syndrome B

UniProtKB/Swiss-Prot : 75 Cockayne syndrome B: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

MalaCards based summary : Cockayne Syndrome B, also known as cockayne syndrome, type b, is related to cockayne syndrome type ii and cockayne syndrome, and has symptoms including ataxia, seizures and tremor. An important gene associated with Cockayne Syndrome B is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, bone and lung, and related phenotypes are nystagmus and hypertension

Description from OMIM: 133540

Related Diseases for Cockayne Syndrome B

Graphical network of the top 20 diseases related to Cockayne Syndrome B:



Diseases related to Cockayne Syndrome B

Symptoms & Phenotypes for Cockayne Syndrome B

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
corneal opacity
optic atrophy
strabismus
decreased lacrimation
more
Neurologic Central Nervous System:
seizures
cerebral atrophy
cerebellar calcifications
mental retardation
normal pressure hydrocephalus
more
Skeletal Spine:
kyphosis
vertebral body abnormalities
intervertebral calcifications

Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
proteinuria
renal failure

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Growth Other:
intrauterine growth retardation
postnatal growth retardation
low birth weight
marked failure to thrive
cachectic dwarfism

Head And Neck Face:
loss of facial adipose tissue
wizened face

Head And Neck Ears:
sensorineural hearing loss
malformed ears

Cardiovascular Heart:
cardiac arrhythmias

Skeletal Pelvis:
small, squared off pelvis
hypoplastic iliac wings

Skeletal Hands:
sclerotic ivory phalangeal epiphyses

Muscle Soft Tissue:
decreased subcutaneous adipose tissue

Laboratory Abnormalities:
abnormal myelination in sural nerve biopsies
disturbed visual and brainstem auditory evoked responses indicative of cns demyelination
increased cellular sensitivity to uv light

Cardiovascular Vascular:
hypertension

Neurologic Peripheral Nervous System:
ataxia
tremor
peripheral neuropathy
weakness
dysmyelination
more
AbdomenSpleen:
splenomegaly

Head And Neck Head:
microcephaly
mandible prognathism

Skeletal:
osteoporosis

Skin Nails Hair Skin:
dry skin
anhidrosis
scarring
photosensitivity
pigmentation
more
Genitourinary External Genitalia Male:
micropenis

Head And Neck Teeth:
malocclusion
delayed eruption of deciduous teeth
dental caries
absent/hypoplastic teeth

Head And Neck Nose:
slender nose

Skeletal Skull:
thickened calvarium

Skeletal Limbs:
mild to moderate joint limitation

Skin Nails Hair:
precociously senile appearance

Skin Nails Hair Hair:
thin, dry hair


Clinical features from OMIM:

133540

Human phenotypes related to Cockayne Syndrome B:

32 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hypertension 32 HP:0000822
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 muscle weakness 32 HP:0001324
7 tremor 32 HP:0001337
8 kyphosis 32 HP:0002808
9 mandibular prognathia 32 HP:0000303
10 cataract 32 HP:0000518
11 dental malocclusion 32 HP:0000689
12 splenomegaly 32 HP:0001744
13 hepatomegaly 32 HP:0002240
14 carious teeth 32 HP:0000670
15 thickened calvaria 32 HP:0002684
16 microcephaly 32 HP:0000252
17 sensorineural hearing impairment 32 HP:0000407
18 optic atrophy 32 HP:0000648
19 abnormality of visual evoked potentials 32 HP:0000649
20 renal insufficiency 32 HP:0000083
21 proteinuria 32 HP:0000093
22 osteoporosis 32 HP:0000939
23 arrhythmia 32 HP:0011675
24 opacification of the corneal stroma 32 HP:0007759
25 strabismus 32 HP:0000486
26 limitation of joint mobility 32 HP:0001376
27 decreased nerve conduction velocity 32 HP:0000762
28 cryptorchidism 32 HP:0000028
29 dry skin 32 HP:0000958
30 intrauterine growth retardation 32 HP:0001511
31 postnatal growth retardation 32 HP:0008897
32 atypical scarring of skin 32 HP:0000987
33 abnormality of the pinna 32 HP:0000377
34 decreased lacrimation 32 HP:0000633
35 microphthalmia 32 HP:0000568
36 hypoplastic iliac wing 32 HP:0002866
37 hypoplasia of the iris 32 HP:0007676
38 severe short stature 32 HP:0003510
39 hypoplastic pelvis 32 HP:0008839
40 severe failure to thrive 32 HP:0001525
41 cutaneous photosensitivity 32 HP:0000992
42 abnormality of skin pigmentation 32 HP:0001000
43 abnormality of the hair 32 HP:0001595
44 microcornea 32 HP:0000482
45 sparse hair 32 HP:0008070
46 anhidrosis 32 HP:0000970
47 micropenis 32 HP:0000054
48 delayed eruption of primary teeth 32 HP:0000680
49 polyneuropathy 32 HP:0001271
50 abnormal peripheral myelination 32 HP:0003130

UMLS symptoms related to Cockayne Syndrome B:


ataxia, seizures, tremor, dry skin, weakness

GenomeRNAi Phenotypes related to Cockayne Syndrome B according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.26 ERCC2 ERCC6 ERCC8 XPA
2 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 ERCC6 POLR2A XPA

MGI Mouse Phenotypes related to Cockayne Syndrome B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 ERCC8 POLR2A XPA ERCC2 ERCC6
2 hematopoietic system MP:0005397 9.77 ERCC8 POLR2A XPA ERCC2 ERCC6
3 immune system MP:0005387 9.72 ERCC8 POLR2A XPA ERCC2 ERCC6
4 integument MP:0010771 9.65 ERCC8 POLR2A XPA ERCC2 ERCC6
5 neoplasm MP:0002006 9.55 POLR2A XPA ERCC2 ERCC6 ERCC8
6 nervous system MP:0003631 9.35 ERCC8 POLR2A XPA ERCC2 ERCC6
7 vision/eye MP:0005391 8.92 ERCC8 XPA ERCC2 ERCC6

Drugs & Therapeutics for Cockayne Syndrome B

Search Clinical Trials , NIH Clinical Center for Cockayne Syndrome B

Genetic Tests for Cockayne Syndrome B

Genetic tests related to Cockayne Syndrome B:

# Genetic test Affiliating Genes
1 Cockayne Syndrome B 29 ERCC6

Anatomical Context for Cockayne Syndrome B

MalaCards organs/tissues related to Cockayne Syndrome B:

41
Skin, Bone, Lung, Brain, B Cells, Fetal Brain

Publications for Cockayne Syndrome B

Articles related to Cockayne Syndrome B:

(show all 38)
# Title Authors Year
1
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )
2017
2
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )
2017
3
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
4
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
5
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. ( 28036256 )
2016
6
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination. ( 26100862 )
2015
7
The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. ( 24874740 )
2014
8
Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage. ( 25136123 )
2014
9
Cockayne syndrome b maintains neural precursor function. ( 23245699 )
2013
10
Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress. ( 23733932 )
2013
11
Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation. ( 22743267 )
2012
12
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging. ( 22383384 )
2012
13
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. ( 22483866 )
2012
14
Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells. ( 21438118 )
2011
15
BRCA1 contributes to transcription-coupled repair of DNA damage through polyubiquitination and degradation of Cockayne syndrome B protein. ( 21756275 )
2011
16
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. ( 20673160 )
2011
17
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. ( 21918225 )
2011
18
Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. ( 21566259 )
2011
19
Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. ( 21668583 )
2011
20
A ubiquitin-binding domain in cockayne syndrome B required for transcription-coupled nucleotide excision repair. ( 20541997 )
2010
21
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. ( 19221478 )
2009
22
8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) protein. ( 19061977 )
2009
23
Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. ( 19580815 )
2009
24
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. ( 17854076 )
2008
25
Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I. ( 18656484 )
2008
26
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. ( 17213818 )
2007
27
Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. ( 17567611 )
2007
28
Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. ( 16601682 )
2006
29
Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. ( 12954769 )
2003
30
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. ( 12095617 )
2002
31
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage. ( 12447686 )
2002
32
Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. ( 11238917 )
2001
33
ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. ( 11003660 )
2000
34
Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription. ( 9880486 )
1999
35
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. ( 9565609 )
1998
36
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. ( 9312053 )
1997
37
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. ( 9150142 )
1997
38
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6. ( 7957102 )
1994

Variations for Cockayne Syndrome B

UniProtKB/Swiss-Prot genetic disease variations for Cockayne Syndrome B:

75
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Arg670Trp VAR_001218 rs202080674
2 ERCC6 p.Trp851Arg VAR_001219 rs368728467
3 ERCC6 p.Val957Gly VAR_001220
4 ERCC6 p.Pro1042Leu VAR_001221
5 ERCC6 p.Asn680Asp VAR_063511
6 ERCC6 p.Trp686Cys VAR_063512 rs751292948
7 ERCC6 p.Ser687Leu VAR_063513 rs1026438103Cockayne

ClinVar genetic disease variations for Cockayne Syndrome B:

6
(show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter) single nucleotide variant Pathogenic rs121917900 GRCh37 Chromosome 10, 50708719: 50708719
2 ERCC6 NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter) single nucleotide variant Pathogenic rs121917900 GRCh38 Chromosome 10, 49500673: 49500673
3 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
4 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
5 ERCC6 ERCC6, 1-BP DEL, 1597G deletion Pathogenic
6 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
7 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
8 ERCC6 NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh37 Chromosome 10, 50732504: 50732504
9 ERCC6 NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh38 Chromosome 10, 49524458: 49524458
10 ERCC6 ERCC6, 4-BP INS, 1053TGTC insertion Pathogenic
11 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782
12 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
13 ERCC6 ERCC6, 1-BP INS, 1034T insertion Pathogenic
14 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh37 Chromosome 10, 50738762: 50738762
15 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh38 Chromosome 10, 49530716: 49530716
16 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh37 Chromosome 10, 50668474: 50668474
17 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh38 Chromosome 10, 49460428: 49460428
18 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
19 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
20 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh38 Chromosome 10, 49461431: 49461431
21 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh37 Chromosome 10, 50669477: 50669477
22 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh38 Chromosome 10, 49470347: 49470348
23 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh37 Chromosome 10, 50678393: 50678394
24 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh37 Chromosome 10, 50678398: 50678399
25 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh38 Chromosome 10, 49470352: 49470353
26 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
27 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
28 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
29 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
30 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
31 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
32 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
33 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
34 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Pathogenic rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
35 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Pathogenic rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
36 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
37 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
38 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
39 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
40 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh37 Chromosome 10, 50690894: 50690894
41 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh38 Chromosome 10, 49482848: 49482848
42 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh37 Chromosome 10, 50690903: 50690903
43 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh38 Chromosome 10, 49482857: 49482857
44 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
45 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
46 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
47 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
48 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh38 Chromosome 10, 49483488: 49483488
49 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh37 Chromosome 10, 50691534: 50691534
50 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610

Expression for Cockayne Syndrome B

Search GEO for disease gene expression data for Cockayne Syndrome B.

Pathways for Cockayne Syndrome B

Pathways related to Cockayne Syndrome B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 ERCC2 ERCC6 ERCC8 POLR2A XPA
2
Show member pathways
12.29 ERCC2 ERCC6 ERCC8 POLR2A XPA
3 12.02 ERCC2 POLR2A XPA
4
Show member pathways
11.96 ERCC2 ERCC6 ERCC8 POLR2A XPA
5
Show member pathways
11.45 ERCC2 ERCC6
6
Show member pathways
11.09 ERCC2 ERCC6 ERCC8 POLR2A XPA
7 10.9 ERCC2 ERCC6 XPA

GO Terms for Cockayne Syndrome B

Cellular components related to Cockayne Syndrome B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 ERCC2 ERCC6 ERCC8 POLR2A XPA

Biological processes related to Cockayne Syndrome B according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.79 ERCC2 ERCC6 POLR2A
2 cellular response to DNA damage stimulus GO:0006974 9.71 ERCC2 ERCC6 ERCC8 XPA
3 DNA repair GO:0006281 9.67 ERCC2 ERCC6 ERCC8 XPA
4 response to toxic substance GO:0009636 9.61 ERCC6 XPA
5 transcription elongation from RNA polymerase II promoter GO:0006368 9.61 ERCC2 POLR2A
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.6 ERCC6 XPA
7 base-excision repair GO:0006284 9.59 ERCC6 XPA
8 nucleotide-excision repair, DNA incision GO:0033683 9.58 ERCC2 XPA
9 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.58 ERCC2 XPA
10 7-methylguanosine mRNA capping GO:0006370 9.57 ERCC2 POLR2A
11 global genome nucleotide-excision repair GO:0070911 9.56 ERCC2 XPA
12 transcription elongation from RNA polymerase I promoter GO:0006362 9.55 ERCC2 ERCC6
13 nucleotide-excision repair, preincision complex assembly GO:0006294 9.54 ERCC2 XPA
14 response to X-ray GO:0010165 9.52 ERCC6 ERCC8
15 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.51 ERCC2 XPA
16 multicellular organism growth GO:0035264 9.5 ERCC2 ERCC6 XPA
17 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.49 ERCC2 XPA
18 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.48 ERCC2 XPA
19 UV protection GO:0009650 9.46 ERCC2 XPA
20 response to oxidative stress GO:0006979 9.46 ERCC2 ERCC6 ERCC8 XPA
21 response to auditory stimulus GO:0010996 9.43 ERCC8 XPA
22 nucleotide-excision repair GO:0006289 9.43 ERCC2 ERCC8 XPA
23 response to UV GO:0009411 9.26 ERCC2 ERCC6 ERCC8 XPA
24 transcription-coupled nucleotide-excision repair GO:0006283 9.02 ERCC2 ERCC6 ERCC8 POLR2A XPA

Molecular functions related to Cockayne Syndrome B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.16 ERCC2 ERCC6
2 DNA helicase activity GO:0003678 8.96 ERCC6 ERCC8
3 DNA-dependent ATPase activity GO:0008094 8.8 ERCC2 ERCC6 ERCC8

Sources for Cockayne Syndrome B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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