Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C1GALT1C1 (C1GALT1 specific chaperone 1)

Identity

Alias_symbol (synonym)COSMC
C1GALT2
Other aliasC38H2-L1
HSPC067
MST143
TNPS
HGNC (Hugo) C1GALT1C1
LocusID (NCBI) 29071
Atlas_Id 50225
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at 119759529 and ends at 119764005 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C1GALT1C1 (Xq24) / C1GALT1C1 (Xq24)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C1GALT1C1   24338
Cards
Entrez_Gene (NCBI)C1GALT1C1  29071  C1GALT1 specific chaperone 1
AliasesC1GALT2; C38H2-L1; COSMC; HSPC067; 
MST143; TNPS
GeneCards (Weizmann)C1GALT1C1
Ensembl hg19 (Hinxton)ENSG00000171155 [Gene_View]  chrX:119759529-119764005 [Contig_View]  C1GALT1C1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171155 [Gene_View]  chrX:119759529-119764005 [Contig_View]  C1GALT1C1 [Vega]
ICGC DataPortalENSG00000171155
TCGA cBioPortalC1GALT1C1
AceView (NCBI)C1GALT1C1
Genatlas (Paris)C1GALT1C1
WikiGenes29071
SOURCE (Princeton)C1GALT1C1
Genetics Home Reference (NIH)C1GALT1C1
Genomic and cartography
GoldenPath hg19 (UCSC)C1GALT1C1  -     chrX:119759529-119764005 -  Xq24   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C1GALT1C1  -     Xq24   [Description]    (hg38-Dec_2013)
EnsemblC1GALT1C1 - Xq24 [CytoView hg19]  C1GALT1C1 - Xq24 [CytoView hg38]
Mapping of homologs : NCBIC1GALT1C1 [Mapview hg19]  C1GALT1C1 [Mapview hg38]
OMIM300611   300622   
Gene and transcription
Genbank (Entrez)AA578739 AB084170 AF088029 AF161552 AF177284
RefSeq transcript (Entrez)NM_001011551 NM_152692
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016219 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)C1GALT1C1
Cluster EST : UnigeneHs.643920 [ NCBI ]
CGAP (NCI)Hs.643920
Alternative Splicing GalleryENSG00000171155
Gene ExpressionC1GALT1C1 [ NCBI-GEO ]   C1GALT1C1 [ EBI - ARRAY_EXPRESS ]   C1GALT1C1 [ SEEK ]   C1GALT1C1 [ MEM ]
Gene Expression Viewer (FireBrowse)C1GALT1C1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29071
GTEX Portal (Tissue expression)C1GALT1C1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EU7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EU7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EU7
Splice isoforms : SwissVarQ96EU7
PhosPhoSitePlusQ96EU7
Domains : Interpro (EBI)C1GALT1C1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C1GALT1C1
DMDM Disease mutations29071
Blocks (Seattle)C1GALT1C1
SuperfamilyQ96EU7
Human Protein AtlasENSG00000171155
Peptide AtlasQ96EU7
HPRD06462
IPIIPI00101299   
Protein Interaction databases
DIP (DOE-UCLA)Q96EU7
IntAct (EBI)Q96EU7
FunCoupENSG00000171155
BioGRIDC1GALT1C1
STRING (EMBL)C1GALT1C1
ZODIACC1GALT1C1
Ontologies - Pathways
QuickGOQ96EU7
Ontology : AmiGOGolgi membrane  protein binding  protein O-linked glycosylation  integral component of membrane  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  platelet activation  platelet morphogenesis  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  protein binding  protein O-linked glycosylation  integral component of membrane  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  platelet activation  platelet morphogenesis  extracellular exosome  
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkC1GALT1C1
Atlas of Cancer Signalling NetworkC1GALT1C1
Wikipedia pathwaysC1GALT1C1
Orthology - Evolution
OrthoDB29071
GeneTree (enSembl)ENSG00000171155
Phylogenetic Trees/Animal Genes : TreeFamC1GALT1C1
HOVERGENQ96EU7
HOGENOMQ96EU7
Homologs : HomoloGeneC1GALT1C1
Homology/Alignments : Family Browser (UCSC)C1GALT1C1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1GALT1C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1GALT1C1
dbVarC1GALT1C1
ClinVarC1GALT1C1
1000_GenomesC1GALT1C1 
Exome Variant ServerC1GALT1C1
ExAC (Exome Aggregation Consortium)C1GALT1C1 (select the gene name)
Genetic variants : HAPMAP29071
Genomic Variants (DGV)C1GALT1C1 [DGVbeta]
DECIPHER (Syndromes)X:119759529-119764005  ENSG00000171155
CONAN: Copy Number AnalysisC1GALT1C1 
Mutations
ICGC Data PortalC1GALT1C1 
TCGA Data PortalC1GALT1C1 
Broad Tumor PortalC1GALT1C1
OASIS PortalC1GALT1C1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1GALT1C1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1GALT1C1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch C1GALT1C1
DgiDB (Drug Gene Interaction Database)C1GALT1C1
DoCM (Curated mutations)C1GALT1C1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1GALT1C1 (select a term)
intoGenC1GALT1C1
Cancer3DC1GALT1C1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300611    300622   
Orphanet
MedgenC1GALT1C1
Genetic Testing Registry C1GALT1C1
NextProtQ96EU7 [Medical]
TSGene29071
GENETestsC1GALT1C1
Huge Navigator C1GALT1C1 [HugePedia]
snp3D : Map Gene to Disease29071
BioCentury BCIQC1GALT1C1
ClinGenC1GALT1C1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29071
Chemical/Pharm GKB GenePA134974626
Clinical trialC1GALT1C1
Miscellaneous
canSAR (ICR)C1GALT1C1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1GALT1C1
EVEXC1GALT1C1
GoPubMedC1GALT1C1
iHOPC1GALT1C1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:05 CET 2017

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