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EXTL1 (exostosin like glycosyltransferase 1)

Identity

Alias_namesexostoses (multiple)-like 1
Alias_symbol (synonym)EXTL
MGC70794
Other alias
HGNC (Hugo) EXTL1
LocusID (NCBI) 2134
Atlas_Id 40514
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 26021780 and ends at 26036463 bp from pter ( according to hg38-Dec_2013)

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)EXTL1   3515
Cards
Entrez_Gene (NCBI)EXTL1  2134  exostosin like glycosyltransferase 1
AliasesEXTL
GeneCards (Weizmann)EXTL1
Ensembl hg19 (Hinxton)ENSG00000158008 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158008 [Gene_View]  chr1:26021780-26036463 [Contig_View]  EXTL1 [Vega]
ICGC DataPortalENSG00000158008
TCGA cBioPortalEXTL1
AceView (NCBI)EXTL1
Genatlas (Paris)EXTL1
WikiGenes2134
SOURCE (Princeton)EXTL1
Genetics Home Reference (NIH)EXTL1
Genomic and cartography
GoldenPath hg38 (UCSC)EXTL1  -     chr1:26021780-26036463 +  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXTL1  -     1p36.11   [Description]    (hg19-Feb_2009)
EnsemblEXTL1 - 1p36.11 [CytoView hg19]  EXTL1 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBIEXTL1 [Mapview hg19]  EXTL1 [Mapview hg38]
OMIM601738   
Gene and transcription
Genbank (Entrez)BC065528 DA182373 R67266 U67191
RefSeq transcript (Entrez)NM_004455
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXTL1
Cluster EST : UnigeneHs.150956 [ NCBI ]
CGAP (NCI)Hs.150956
Alternative Splicing GalleryENSG00000158008
Gene ExpressionEXTL1 [ NCBI-GEO ]   EXTL1 [ EBI - ARRAY_EXPRESS ]   EXTL1 [ SEEK ]   EXTL1 [ MEM ]
Gene Expression Viewer (FireBrowse)EXTL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2134
GTEX Portal (Tissue expression)EXTL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92935   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92935  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92935
Splice isoforms : SwissVarQ92935
Catalytic activity : Enzyme2.4.1.224 [ Enzyme-Expasy ]   2.4.1.2242.4.1.224 [ IntEnz-EBI ]   2.4.1.224 [ BRENDA ]   2.4.1.224 [ KEGG ]   
PhosPhoSitePlusQ92935
Domains : Interpro (EBI)Exostosin    Exostosin-like_1    EXT_C    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Exostosin (PF03016)    Glyco_transf_64 (PF09258)   
Domain families : Pfam (NCBI)pfam03016    pfam09258   
Conserved Domain (NCBI)EXTL1
DMDM Disease mutations2134
Blocks (Seattle)EXTL1
SuperfamilyQ92935
Human Protein AtlasENSG00000158008
Peptide AtlasQ92935
HPRD03441
IPIIPI00024293   
Protein Interaction databases
DIP (DOE-UCLA)Q92935
IntAct (EBI)Q92935
FunCoupENSG00000158008
BioGRIDEXTL1
STRING (EMBL)EXTL1
ZODIACEXTL1
Ontologies - Pathways
QuickGOQ92935
Ontology : AmiGOskeletal system development  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  
Ontology : EGO-EBIskeletal system development  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  
Pathways : KEGGGlycosaminoglycan biosynthesis - heparan sulfate / heparin   
NDEx NetworkEXTL1
Atlas of Cancer Signalling NetworkEXTL1
Wikipedia pathwaysEXTL1
Orthology - Evolution
OrthoDB2134
GeneTree (enSembl)ENSG00000158008
Phylogenetic Trees/Animal Genes : TreeFamEXTL1
HOVERGENQ92935
HOGENOMQ92935
Homologs : HomoloGeneEXTL1
Homology/Alignments : Family Browser (UCSC)EXTL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXTL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXTL1
dbVarEXTL1
ClinVarEXTL1
1000_GenomesEXTL1 
Exome Variant ServerEXTL1
ExAC (Exome Aggregation Consortium)EXTL1 (select the gene name)
Genetic variants : HAPMAP2134
Genomic Variants (DGV)EXTL1 [DGVbeta]
DECIPHEREXTL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXTL1 
Mutations
ICGC Data PortalEXTL1 
TCGA Data PortalEXTL1 
Broad Tumor PortalEXTL1
OASIS PortalEXTL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXTL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXTL1
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
BioMutasearch EXTL1
DgiDB (Drug Gene Interaction Database)EXTL1
DoCM (Curated mutations)EXTL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXTL1 (select a term)
intoGenEXTL1
Cancer3DEXTL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601738   
Orphanet
MedgenEXTL1
Genetic Testing Registry EXTL1
NextProtQ92935 [Medical]
TSGene2134
GENETestsEXTL1
Target ValidationEXTL1
Huge Navigator EXTL1 [HugePedia]
snp3D : Map Gene to Disease2134
BioCentury BCIQEXTL1
ClinGenEXTL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2134
Chemical/Pharm GKB GenePA27927
Clinical trialEXTL1
Miscellaneous
canSAR (ICR)EXTL1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXTL1
EVEXEXTL1
GoPubMedEXTL1
iHOPEXTL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:52:54 CEST 2017

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