CSB
MCID: CCK007
MIFTS: 50

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 i and cockayne syndrome type ii, 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 microcornea 33 HP:0000482
44 sparse hair 33 HP:0008070
45 micropenis 33 HP:0000054
46 anhidrosis 33 HP:0000970
47 delayed eruption of primary teeth 33 HP:0000680
48 polyneuropathy 33 HP:0001271
49 abnormal peripheral myelination 33 HP:0003130
50 cerebral atrophy 33 HP:0002059

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
subcortical white matter calcifications
cerebellar calcifications
normal pressure hydrocephalus
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 Teeth:
malocclusion
delayed eruption of deciduous teeth
dental caries
absent/hypoplastic teeth

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 Nose:
slender nose

Head And Neck Ears:
sensorineural hearing loss
malformed ears

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 9.26 ERCC4 ERCC6 ERCC8 PARP1
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 9.35 ERCC4 ERCC6 ERCC8 PARP1 POLR2A
2 integument MP:0010771 8.92 ERCC6 ERCC8 PARP1 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, Eye

Publications for Cockayne Syndrome B

Articles related to Cockayne Syndrome B:

(show all 42)
# 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
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. ( 28036256 )
2017
4
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
5
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
6
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination. ( 26100862 )
2015
7
Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage. ( 25136123 )
2014
8
The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. ( 24874740 )
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
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
13
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging. ( 22383384 )
2012
14
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. ( 20673160 )
2011
15
Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells. ( 21438118 )
2011
16
Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. ( 21566259 )
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
BRCA1 contributes to transcription-coupled repair of DNA damage through polyubiquitination and degradation of Cockayne syndrome B protein. ( 21756275 )
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
Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. ( 19580815 )
2009
22
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. ( 19221478 )
2009
23
8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) protein. ( 19061977 )
2009
24
Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I. ( 18656484 )
2008
25
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. ( 18446857 )
2008
26
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. ( 17854076 )
2008
27
Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. ( 17567611 )
2007
28
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. ( 17213818 )
2007
29
Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. ( 16601682 )
2006
30
Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. ( 12954769 )
2003
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
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. ( 12095617 )
2002
33
Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. ( 11238917 )
2001
34
ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. ( 11003660 )
2000
35
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. ( 10767341 )
2000
36
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. ( 10196384 )
1999
37
Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription. ( 9880486 )
1999
38
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. ( 9565609 )
1998
39
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. ( 9443879 )
1998
40
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. ( 9312053 )
1997
41
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. ( 9150142 )
1997
42
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 226)
# 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.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
5 ERCC6 NM_000124.3(ERCC6): c.1684_1705del deletion Pathogenic
6 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh37 Chromosome 10, 50667277: 50667277
7 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh38 Chromosome 10, 49459231: 49459231
8 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh38 Chromosome 10, 49530797: 49530797
9 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh37 Chromosome 10, 50738843: 50738843
10 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh37 Chromosome 10, 50736472: 50736472
11 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh38 Chromosome 10, 49528426: 49528426
12 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh37 Chromosome 10, 50678372: 50678372
13 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh38 Chromosome 10, 49470326: 49470326
14 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh37 Chromosome 10, 50691550: 50691550
15 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh38 Chromosome 10, 49483504: 49483504
16 ERCC6 NM_000124.3(ERCC6): c.2923C> T (p.Arg975Ter) single nucleotide variant Pathogenic rs772801089 GRCh37 Chromosome 10, 50680423: 50680423
17 ERCC6 NM_000124.3(ERCC6): c.2923C> T (p.Arg975Ter) single nucleotide variant Pathogenic rs772801089 GRCh38 Chromosome 10, 49472377: 49472377
18 ERCC6 NM_000124.3(ERCC6): c.2058G> A (p.Trp686Ter) single nucleotide variant Pathogenic rs751292948 GRCh37 Chromosome 10, 50690844: 50690844
19 ERCC6 NM_000124.3(ERCC6): c.2058G> A (p.Trp686Ter) single nucleotide variant Pathogenic rs751292948 GRCh38 Chromosome 10, 49482798: 49482798
20 ERCC6 NM_000124.3(ERCC6): c.1146_1154delGGAGGAAGA (p.Glu382_Glu384del) deletion Uncertain significance rs1284316063 GRCh37 Chromosome 10, 50732322: 50732330
21 ERCC6 NM_000124.3(ERCC6): c.1146_1154delGGAGGAAGA (p.Glu382_Glu384del) deletion Uncertain significance rs1284316063 GRCh38 Chromosome 10, 49524276: 49524284
22 ERCC6 NM_000124.3(ERCC6): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic/Likely pathogenic rs906755254 GRCh37 Chromosome 10, 50680507: 50680507
23 ERCC6 NM_000124.3(ERCC6): c.2551T> A (p.Trp851Arg) single nucleotide variant Pathogenic rs368728467 GRCh37 Chromosome 10, 50682120: 50682120
24 ERCC6 NM_000124.3(ERCC6): c.2551T> A (p.Trp851Arg) single nucleotide variant Pathogenic rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
25 ERCC6 NM_000124.3(ERCC6): c.526C> T (p.Arg176Ter) single nucleotide variant Likely pathogenic rs771781694 GRCh37 Chromosome 10, 50738783: 50738783
26 ERCC6 NM_000124.3(ERCC6): c.1135G> T (p.Glu379Ter) single nucleotide variant Likely pathogenic rs1554793270 GRCh38 Chromosome 10, 49524295: 49524295
27 ERCC6 NM_000124.3(ERCC6): c.906_923del (p.Thr303_Val308del) deletion Uncertain significance rs765040780 GRCh37 Chromosome 10, 50732552: 50732570
28 ERCC6 NM_000124.3(ERCC6): c.906_923del (p.Thr303_Val308del) deletion Uncertain significance rs765040780 GRCh38 Chromosome 10, 49524507: 49524524
29 ERCC6 NM_000124.3(ERCC6): c.779_780dup (p.Arg261Profs) duplication Likely pathogenic rs1254008304 GRCh37 Chromosome 10, 50732695: 50732695
30 ERCC6 NM_000124.3(ERCC6): c.779_780dup (p.Arg261Profs) duplication Likely pathogenic rs1254008304 GRCh38 Chromosome 10, 49524650: 49524651
31 ERCC6 NM_000124.3(ERCC6): c.422+1G> C single nucleotide variant Likely pathogenic rs1198472093 GRCh37 Chromosome 10, 50740588: 50740588
32 ERCC6 NM_000124.3(ERCC6): c.422+1G> C single nucleotide variant Likely pathogenic rs1198472093 GRCh38 Chromosome 10, 49532542: 49532542
33 ERCC6 NM_000124.3(ERCC6): c.214del (p.Leu72Cysfs) deletion Likely pathogenic rs1554794640 GRCh37 Chromosome 10, 50740796: 50740797
34 ERCC6 NM_000124.3(ERCC6): c.214del (p.Leu72Cysfs) deletion Likely pathogenic rs1554794640 GRCh38 Chromosome 10, 49532751: 49532751
35 ERCC6 NM_000124.3(ERCC6): c.61C> T (p.Gln21Ter) single nucleotide variant Likely pathogenic rs577021605 GRCh37 Chromosome 10, 50740950: 50740950
36 ERCC6 NM_000124.3(ERCC6): c.61C> T (p.Gln21Ter) single nucleotide variant Likely pathogenic rs577021605 GRCh38 Chromosome 10, 49532904: 49532904
37 ERCC6 NM_000124.4(ERCC6): c.3942G> A (p.Trp1314Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 50669439: 50669439
38 ERCC6 NM_000124.4(ERCC6): c.3942G> A (p.Trp1314Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 49461393: 49461393
39 ERCC6 NM_000124.3(ERCC6): c.1134_1142dup (p.Glu384_Asp385insGluGluGlu) duplication Uncertain significance rs1554793268 GRCh37 Chromosome 10, 50732333: 50732333
40 ERCC6 NM_000124.3(ERCC6): c.1322_1324del (p.Glu441del) deletion Uncertain significance rs769020754 GRCh38 Chromosome 10, 49524106: 49524108
41 ERCC6 NM_000124.3(ERCC6): c.1322_1324del (p.Glu441del) deletion Uncertain significance rs769020754 GRCh37 Chromosome 10, 50732151: 50732154
42 ERCC6 NM_000124.3(ERCC6): c.1397+1G> C single nucleotide variant Likely pathogenic rs1554793174 GRCh38 Chromosome 10, 49524032: 49524032
43 ERCC6 NM_000124.3(ERCC6): c.1397+1G> C single nucleotide variant Likely pathogenic rs1554793174 GRCh37 Chromosome 10, 50732078: 50732078
44 ERCC6 NM_000124.3(ERCC6): c.1595A> G (p.Asp532Gly) single nucleotide variant Uncertain significance rs752712823 GRCh38 Chromosome 10, 49500628: 49500628
45 ERCC6 NM_000124.3(ERCC6): c.1595A> G (p.Asp532Gly) single nucleotide variant Uncertain significance rs752712823 GRCh37 Chromosome 10, 50708674: 50708674
46 ERCC6 NM_000124.3(ERCC6): c.1821delGinsAA (p.Glu608Argfs) indel Likely pathogenic rs1554789393 GRCh38 Chromosome 10, 49493117: 49493117
47 ERCC6 NM_000124.3(ERCC6): c.1821delGinsAA (p.Glu608Argfs) indel Likely pathogenic rs1554789393 GRCh37 Chromosome 10, 50701162: 50701163
48 ERCC6 NM_000124.3(ERCC6): c.1821+1G> A single nucleotide variant Likely pathogenic rs1228919836 GRCh38 Chromosome 10, 49493116: 49493116
49 ERCC6 NM_000124.3(ERCC6): c.1821+1G> A single nucleotide variant Likely pathogenic rs1228919836 GRCh37 Chromosome 10, 50701162: 50701162
50 ERCC6 NM_000124.3(ERCC6): c.3114_3116del (p.Arg1039del) deletion Uncertain significance rs1342267719 GRCh38 Chromosome 10, 49470844: 49470846

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 9.8 ERCC4 ERCC6 ERCC8 PARP1 PGBD3 POLR2A
2 nucleolus GO:0005730 9.56 ERCC6 PARP1 PGBD3 POLR2A
3 nucleoplasm GO:0005654 9.43 ERCC4 ERCC6 ERCC8 PARP1 PGBD3 POLR2A
4 nuclear chromosome, telomeric region GO:0000784 9.37 ERCC4 PARP1
5 transcription elongation factor complex GO:0008023 9.16 ERCC6 PGBD3
6 nucleotide-excision repair complex GO:0000109 8.62 ERCC4 ERCC8

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.86 ERCC6 PARP1 PGBD3 POLR2A
2 cellular response to DNA damage stimulus GO:0006974 9.72 ERCC4 ERCC6 ERCC8 PARP1 PGBD3
3 response to oxidative stress GO:0006979 9.69 ERCC6 ERCC8 PGBD3
4 response to toxic substance GO:0009636 9.66 ERCC6 PGBD3
5 multicellular organism growth GO:0035264 9.65 ERCC6 PGBD3
6 double-strand break repair via homologous recombination GO:0000724 9.65 ERCC4 PARP1
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 ERCC6 PGBD3
8 cellular response to UV GO:0034644 9.64 ERCC4 PARP1
9 telomere maintenance GO:0000723 9.64 ERCC4 PARP1
10 nucleotide-excision repair GO:0006289 9.63 ERCC4 ERCC8
11 activation of JUN kinase activity GO:0007257 9.63 ERCC6 PGBD3
12 base-excision repair GO:0006284 9.62 ERCC6 PGBD3
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.62 ERCC6 PGBD3
14 nucleotide-excision repair, DNA incision GO:0033683 9.61 ERCC4 PARP1
15 photoreceptor cell maintenance GO:0045494 9.61 ERCC6 PGBD3
16 DNA duplex unwinding GO:0032508 9.61 ERCC6 ERCC8 PGBD3
17 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.6 ERCC4 PARP1
18 positive regulation of gene expression, epigenetic GO:0045815 9.59 ERCC6 PGBD3
19 global genome nucleotide-excision repair GO:0070911 9.58 ERCC4 PARP1
20 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.58 ERCC4 PARP1
21 positive regulation of DNA-templated transcription, elongation GO:0032786 9.57 ERCC6 PGBD3
22 activation of JNKK activity GO:0007256 9.55 ERCC6 PGBD3
23 DNA repair GO:0006281 9.55 ERCC4 ERCC6 ERCC8 PARP1 PGBD3
24 regulation of DNA-templated transcription, elongation GO:0032784 9.54 ERCC6 PGBD3
25 response to gamma radiation GO:0010332 9.54 ERCC6 PARP1 PGBD3
26 response to UV-B GO:0010224 9.52 ERCC6 PGBD3
27 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.49 ERCC4 PARP1
28 pyrimidine dimer repair GO:0006290 9.48 ERCC6 PGBD3
29 response to superoxide GO:0000303 9.46 ERCC6 PGBD3
30 response to X-ray GO:0010165 9.43 ERCC6 ERCC8 PGBD3
31 transcription elongation from RNA polymerase I promoter GO:0006362 9.4 ERCC6 PGBD3
32 response to UV GO:0009411 9.26 ERCC4 ERCC6 ERCC8 PGBD3
33 transcription-coupled nucleotide-excision repair GO:0006283 9.02 ERCC4 ERCC6 ERCC8 PGBD3 POLR2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.77 ERCC4 ERCC6 PARP1 PGBD3 POLR2A
2 protein-containing complex binding GO:0044877 9.58 ERCC6 ERCC8 PGBD3
3 DNA-dependent ATPase activity GO:0008094 9.33 ERCC6 ERCC8 PGBD3
4 DNA helicase activity GO:0003678 9.32 ERCC6 ERCC8
5 protein tyrosine kinase activator activity GO:0030296 9.26 ERCC6 PGBD3
6 protein C-terminus binding GO:0008022 9.26 ERCC4 ERCC6 PGBD3 POLR2A
7 protein N-terminus binding GO:0047485 8.92 ERCC4 ERCC6 PARP1 PGBD3

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
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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