CSB
MCID: CCK007
MIFTS: 51

Cockayne Syndrome B (CSB)

Categories: Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cockayne Syndrome B

MalaCards integrated aliases for Cockayne Syndrome B:

Name: Cockayne Syndrome B 58 76 30 6
Cockayne Syndrome, Type B 58 13 41
Csb 58 76
Cockayne Syndrome, Type Ii 74
Ckn2 76

Characteristics:

OMIM:

58
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:

33
cockayne syndrome b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cockayne Syndrome B

UniProtKB/Swiss-Prot : 76 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 type iii, and has symptoms including seizures, ataxia 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

Human phenotypes related to Cockayne Syndrome B:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
corneal opacity
optic atrophy
strabismus
decreased lacrimation
more
Neurologic Central Nervous System:
seizures
cerebral atrophy
cerebellar calcifications
normal pressure hydrocephalus
mental retardation
more
Skeletal Spine:
kyphosis
vertebral body abnormalities
intervertebral calcifications

Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
proteinuria
renal failure

Genitourinary Internal Genitalia Male:
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
Abdomen Spleen:
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

UMLS symptoms related to Cockayne Syndrome B:


seizures, ataxia, tremor, dry skin, weakness

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.13 ERCC4 ERCC6 ERCC8
2 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 ERCC4 ERCC6 POLR2A

MGI Mouse Phenotypes related to Cockayne Syndrome B:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 ERCC4 ERCC6 ERCC8 POLD1 POLR2A
2 integument MP:0010771 9.26 ERCC6 ERCC8 POLD1 POLR2A
3 neoplasm MP:0002006 8.92 ERCC6 ERCC8 POLD1 POLR2A

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 30 ERCC6

Anatomical Context for Cockayne Syndrome B

MalaCards organs/tissues related to Cockayne Syndrome B:

42
Skin, Bone, Lung, Brain, B Cells, Fetal Brain

Publications for Cockayne Syndrome B

Articles related to Cockayne Syndrome B:

(show all 36)
# 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
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. ( 19221478 )
2009
21
8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) protein. ( 19061977 )
2009
22
Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. ( 19580815 )
2009
23
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. ( 17854076 )
2008
24
Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I. ( 18656484 )
2008
25
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. ( 17213818 )
2007
26
Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. ( 17567611 )
2007
27
Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. ( 16601682 )
2006
28
Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. ( 12954769 )
2003
29
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. ( 12095617 )
2002
30
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
31
Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. ( 11238917 )
2001
32
ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. ( 11003660 )
2000
33
Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription. ( 9880486 )
1999
34
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. ( 9565609 )
1998
35
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. ( 9150142 )
1997
36
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:

76
# 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 rs102643810

ClinVar genetic disease variations for Cockayne Syndrome B:

6 (show top 50) (show all 224)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
2 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
3 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh37 Chromosome 10, 50668474: 50668474
4 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh38 Chromosome 10, 49460428: 49460428
5 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
6 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
7 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh38 Chromosome 10, 49461431: 49461431
8 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh37 Chromosome 10, 50669477: 50669477
9 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh38 Chromosome 10, 49470347: 49470348
10 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh37 Chromosome 10, 50678393: 50678394
11 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh37 Chromosome 10, 50678398: 50678399
12 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh38 Chromosome 10, 49470352: 49470353
13 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
14 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
15 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
16 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
17 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
18 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
19 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
20 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
21 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
22 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
23 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
24 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
25 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
26 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
27 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh37 Chromosome 10, 50690894: 50690894
28 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh38 Chromosome 10, 49482848: 49482848
29 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh37 Chromosome 10, 50690903: 50690903
30 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh38 Chromosome 10, 49482857: 49482857
31 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
32 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
33 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
34 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
35 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh38 Chromosome 10, 49483488: 49483488
36 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh37 Chromosome 10, 50691534: 50691534
37 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
38 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
39 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
40 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
41 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
42 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
43 ERCC6 NM_000124.3(ERCC6): c.1518delG (p.Lys506Asnfs) deletion Pathogenic/Likely pathogenic rs786205168 GRCh37 Chromosome 10, 50713938: 50713938
44 ERCC6 NM_000124.3(ERCC6): c.1518delG (p.Lys506Asnfs) deletion Pathogenic/Likely pathogenic rs786205168 GRCh38 Chromosome 10, 49505892: 49505892
45 ERCC6 NM_000124.3(ERCC6): c.1280dupT (p.Ser429Lysfs) duplication Pathogenic rs786205166 GRCh38 Chromosome 10, 49524150: 49524150
46 ERCC6 NM_000124.3(ERCC6): c.1280dupT (p.Ser429Lysfs) duplication Pathogenic rs786205166 GRCh37 Chromosome 10, 50732196: 50732196
47 ERCC6 NM_000124.3(ERCC6): c.1684_1705del deletion Pathogenic
48 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
49 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh37 Chromosome 10, 50682120: 50682120
50 ERCC6 NM_000124.3(ERCC6): c.850_851insT (p.Glu284Valfs) insertion Pathogenic rs797045562 GRCh38 Chromosome 10, 49524579: 49524580

Expression for Cockayne Syndrome B

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

Pathways for Cockayne Syndrome B

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 nucleus GO:0005634 9.73 ERCC4 ERCC6 ERCC8 PGBD3 POLD1 POLR2A
2 nucleoplasm GO:0005654 9.43 ERCC4 ERCC6 ERCC8 PGBD3 POLD1 POLR2A
3 nuclear chromosome, telomeric region GO:0000784 9.32 ERCC4 POLD1
4 transcription elongation factor complex GO:0008023 9.16 ERCC6 PGBD3
5 nucleotide-excision repair complex GO:0000109 8.8 ERCC4 ERCC8 POLD1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.82 ERCC6 PGBD3 POLR2A
2 cellular response to DNA damage stimulus GO:0006974 9.72 ERCC4 ERCC6 ERCC8 PGBD3 POLD1
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.65 ERCC4 POLD1
4 response to oxidative stress GO:0006979 9.65 ERCC6 ERCC8 PGBD3
5 response to toxic substance GO:0009636 9.64 ERCC6 PGBD3
6 multicellular organism growth GO:0035264 9.63 ERCC6 PGBD3
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.63 ERCC6 PGBD3
8 cellular response to UV GO:0034644 9.62 ERCC4 POLD1
9 telomere maintenance GO:0000723 9.62 ERCC4 POLD1
10 nucleotide-excision repair GO:0006289 9.61 ERCC4 ERCC8
11 activation of JUN kinase activity GO:0007257 9.61 ERCC6 PGBD3
12 base-excision repair GO:0006284 9.6 ERCC6 PGBD3
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.59 ERCC6 PGBD3
14 nucleotide-excision repair, DNA incision GO:0033683 9.58 ERCC4 POLD1
15 photoreceptor cell maintenance GO:0045494 9.58 ERCC6 PGBD3
16 DNA duplex unwinding GO:0032508 9.58 ERCC6 ERCC8 PGBD3
17 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.57 ERCC4 POLD1
18 positive regulation of gene expression, epigenetic GO:0045815 9.56 ERCC6 PGBD3
19 response to gamma radiation GO:0010332 9.55 ERCC6 PGBD3
20 DNA repair GO:0006281 9.55 ERCC4 ERCC6 ERCC8 PGBD3 POLD1
21 positive regulation of DNA-templated transcription, elongation GO:0032786 9.54 ERCC6 PGBD3
22 activation of JNKK activity GO:0007256 9.52 ERCC6 PGBD3
23 regulation of DNA-templated transcription, elongation GO:0032784 9.51 ERCC6 PGBD3
24 response to UV-B GO:0010224 9.49 ERCC6 PGBD3
25 pyrimidine dimer repair GO:0006290 9.46 ERCC6 PGBD3
26 response to superoxide GO:0000303 9.43 ERCC6 PGBD3
27 response to X-ray GO:0010165 9.43 ERCC6 ERCC8 PGBD3
28 transcription elongation from RNA polymerase I promoter GO:0006362 9.37 ERCC6 PGBD3
29 response to UV GO:0009411 9.35 ERCC4 ERCC6 ERCC8 PGBD3 POLD1
30 transcription-coupled nucleotide-excision repair GO:0006283 9.1 ERCC4 ERCC6 ERCC8 PGBD3 POLD1 POLR2A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 ERCC4 ERCC6 PGBD3 POLD1
2 DNA binding GO:0003677 9.77 ERCC4 ERCC6 PGBD3 POLD1 POLR2A
3 chromatin binding GO:0003682 9.61 ERCC6 PGBD3 POLD1
4 protein-containing complex binding GO:0044877 9.58 ERCC6 ERCC8 PGBD3
5 nuclease activity GO:0004518 9.51 ERCC4 POLD1
6 nucleotidyltransferase activity GO:0016779 9.48 POLD1 POLR2A
7 damaged DNA binding GO:0003684 9.46 ERCC4 POLD1
8 protein N-terminus binding GO:0047485 9.33 ERCC4 ERCC6 PGBD3
9 DNA helicase activity GO:0003678 9.32 ERCC6 ERCC8
10 protein tyrosine kinase activator activity GO:0030296 9.26 ERCC6 PGBD3
11 DNA-dependent ATPase activity GO:0008094 9.13 ERCC6 ERCC8 PGBD3
12 protein C-terminus binding GO:0008022 8.92 ERCC4 ERCC6 PGBD3 POLR2A

Sources for Cockayne Syndrome B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
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