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LARGE (like-glycosyltransferase)

Identity

Other namesMDC1D
MDDGA6
MDDGB6
HGNC (Hugo) LARGE
LocusID (NCBI) 9215
Atlas_Id 41126
Location 22q12.3
Location_base_pair Starts at 33669062 and ends at 34316416 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CSGALNACT1 (8p21.3) / LARGE (22q12.3)LARGE (22q12.3) / ATP6V1E1 (22q11.21)LARGE (22q12.3) / LARGE (22q12.3)
LARGE (22q12.3) / SNW1 (14q24.3)LARGE (22q12.3) / SSFA2 (2q31.3)LARGE (22q12.3) / ST6GAL2 (2q12.2)
LARGE (22q12.3) / UBE2V1 (20q13.13)LARGE (22q12.3) / XPNPEP3 (22q13.2)RALGAPA2 (20p11.23) / LARGE (22q12.3)
ZFP36L1 (14q24.1) / LARGE (22q12.3)LARGE 22q12.3 / SNW1 14q24.3

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)LARGE   6511
Cards
Entrez_Gene (NCBI)LARGE  9215  like-glycosyltransferase
GeneCards (Weizmann)LARGE
Ensembl hg19 (Hinxton)ENSG00000133424 [Gene_View]  chr22:33669062-34316416 [Contig_View]  LARGE [Vega]
Ensembl hg38 (Hinxton)ENSG00000133424 [Gene_View]  chr22:33669062-34316416 [Contig_View]  LARGE [Vega]
ICGC DataPortalENSG00000133424
TCGA cBioPortalLARGE
AceView (NCBI)LARGE
Genatlas (Paris)LARGE
WikiGenes9215
SOURCE (Princeton)LARGE
Genomic and cartography
GoldenPath hg19 (UCSC)LARGE  -     chr22:33669062-34316416 -  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LARGE  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblLARGE - 22q12.3 [CytoView hg19]  LARGE - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBILARGE [Mapview hg19]  LARGE [Mapview hg38]
OMIM236670   603590   608840   613154   
Gene and transcription
Genbank (Entrez)AB011181 AI167885 AI198348 AI199197 AJ007583
RefSeq transcript (Entrez)NM_004737 NM_133642
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_009929 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)LARGE
Cluster EST : UnigeneHs.474667 [ NCBI ]
CGAP (NCI)Hs.474667
Alternative Splicing GalleryENSG00000133424
Gene ExpressionLARGE [ NCBI-GEO ]   LARGE [ EBI - ARRAY_EXPRESS ]   LARGE [ SEEK ]   LARGE [ MEM ]
Gene Expression Viewer (FireBrowse)LARGE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9215
GTEX Portal (Tissue expression)LARGE
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95461 (Uniprot)
NextProtO95461  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95461
Splice isoforms : SwissVarO95461 (Swissvar)
Catalytic activity : Enzyme2.4.-.- [ Enzyme-Expasy ]   2.4.-.-2.4.-.- [ IntEnz-EBI ]   2.4.-.- [ BRENDA ]   2.4.-.- [ KEGG ]   
PhosPhoSitePlusO95461
Domains : Interpro (EBI)Glyco_trans_8    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_8 (PF01501)   
Domain families : Pfam (NCBI)pfam01501   
DMDM Disease mutations9215
Blocks (Seattle)LARGE
SuperfamilyO95461
Human Protein AtlasENSG00000133424
Peptide AtlasO95461
HPRD04665
IPIIPI00029050   IPI00607752   IPI00880187   IPI00889585   IPI00878770   IPI00878920   IPI00879087   IPI00879892   IPI00879408   IPI01019051   IPI00916356   IPI00916782   
Protein Interaction databases
DIP (DOE-UCLA)O95461
IntAct (EBI)O95461
FunCoupENSG00000133424
BioGRIDLARGE
STRING (EMBL)LARGE
ZODIACLARGE
Ontologies - Pathways
QuickGOO95461
Ontology : AmiGOGolgi membrane  Golgi apparatus  N-acetylglucosamine metabolic process  protein glycosylation  protein O-linked glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  transferase activity, transferring glycosyl groups  manganese ion binding  integral component of Golgi membrane  UDP-xylosyltransferase activity  protein O-linked mannosylation  xylosyltransferase activity  skeletal muscle tissue regeneration  muscle cell cellular homeostasis  skeletal muscle organ development  
Ontology : EGO-EBIGolgi membrane  Golgi apparatus  N-acetylglucosamine metabolic process  protein glycosylation  protein O-linked glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  transferase activity, transferring glycosyl groups  manganese ion binding  integral component of Golgi membrane  UDP-xylosyltransferase activity  protein O-linked mannosylation  xylosyltransferase activity  skeletal muscle tissue regeneration  muscle cell cellular homeostasis  skeletal muscle organ development  
NDEx Network
Atlas of Cancer Signalling NetworkLARGE
Wikipedia pathwaysLARGE
Orthology - Evolution
OrthoDB9215
GeneTree (enSembl)ENSG00000133424
Phylogenetic Trees/Animal Genes : TreeFamLARGE
Homologs : HomoloGeneLARGE
Homology/Alignments : Family Browser (UCSC)LARGE
Gene fusions - Rearrangements
Fusion: TCGALARGE 22q12.3 SNW1 14q24.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerLARGE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LARGE
dbVarLARGE
ClinVarLARGE
1000_GenomesLARGE 
Exome Variant ServerLARGE
ExAC (Exome Aggregation Consortium)LARGE (select the gene name)
Genetic variants : HAPMAP9215
Genomic Variants (DGV)LARGE [DGVbeta]
Mutations
ICGC Data PortalLARGE 
TCGA Data PortalLARGE 
Broad Tumor PortalLARGE
OASIS PortalLARGE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLARGE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LARGE
DgiDB (Drug Gene Interaction Database)LARGE
DoCM (Curated mutations)LARGE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LARGE (select a term)
intoGenLARGE
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:33669062-34316416  ENSG00000133424
CONAN: Copy Number AnalysisLARGE 
Mutations and Diseases : HGMDLARGE
OMIM236670    603590    608840    613154   
MedgenLARGE
Genetic Testing Registry LARGE
NextProtO95461 [Medical]
TSGene9215
GENETestsLARGE
Huge Navigator LARGE [HugePedia]
snp3D : Map Gene to Disease9215
BioCentury BCIQLARGE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9215
Chemical/Pharm GKB GenePA30296
Clinical trialLARGE
Miscellaneous
canSAR (ICR)LARGE (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLARGE
EVEXLARGE
GoPubMedLARGE
iHOPLARGE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun May 8 18:52:27 CEST 2016

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