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ADAMTSL1 (ADAMTS like 1)

Identity

Alias_namesC9orf94
chromosome 9 open reading frame 94
Alias_symbol (synonym)ADAMTSR1
FLJ35283
Other aliasADAMTSL-1
PUNCTIN
HGNC (Hugo) ADAMTSL1
LocusID (NCBI) 92949
Atlas_Id 46643
Location 9p22.2  [Link to chromosome band 9p22]
Location_base_pair Starts at 18474079 and ends at 18910947 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAMTSL1 (9p22.2) / CDKN2A (9p21.3)ADAMTSL1 (9p22.2) / UHRF2 (9p24.1)CNTLN (9p22.2) / ADAMTSL1 (9p22.2)
SNAPC3 (9p22.3) / ADAMTSL1 (9p22.2)TOPORS (9p21.1) / ADAMTSL1 (9p22.2)UHRF2 (9p24.1) / ADAMTSL1 (9p22.2)
TOPORS 9p21.1 / ADAMTSL1 9p22.2

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)ADAMTSL1   14632
Cards
Entrez_Gene (NCBI)ADAMTSL1  92949  ADAMTS like 1
AliasesADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN
GeneCards (Weizmann)ADAMTSL1
Ensembl hg19 (Hinxton)ENSG00000178031 [Gene_View]  chr9:18474079-18910947 [Contig_View]  ADAMTSL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000178031 [Gene_View]  chr9:18474079-18910947 [Contig_View]  ADAMTSL1 [Vega]
ICGC DataPortalENSG00000178031
TCGA cBioPortalADAMTSL1
AceView (NCBI)ADAMTSL1
Genatlas (Paris)ADAMTSL1
WikiGenes92949
SOURCE (Princeton)ADAMTSL1
Genetics Home Reference (NIH)ADAMTSL1
Genomic and cartography
GoldenPath hg19 (UCSC)ADAMTSL1  -     chr9:18474079-18910947 +  9p22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ADAMTSL1  -     9p22.2   [Description]    (hg38-Dec_2013)
EnsemblADAMTSL1 - 9p22.2 [CytoView hg19]  ADAMTSL1 - 9p22.2 [CytoView hg38]
Mapping of homologs : NCBIADAMTSL1 [Mapview hg19]  ADAMTSL1 [Mapview hg38]
OMIM609198   
Gene and transcription
Genbank (Entrez)AF176313 AF251058 AI750970 AK092602 AK123028
RefSeq transcript (Entrez)NM_001040272 NM_052866 NM_139238 NM_139264
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008413 NW_004929342
Consensus coding sequences : CCDS (NCBI)ADAMTSL1
Cluster EST : UnigeneHs.741483 [ NCBI ]
CGAP (NCI)Hs.741483
Alternative Splicing GalleryENSG00000178031
Gene ExpressionADAMTSL1 [ NCBI-GEO ]   ADAMTSL1 [ EBI - ARRAY_EXPRESS ]   ADAMTSL1 [ SEEK ]   ADAMTSL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTSL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92949
GTEX Portal (Tissue expression)ADAMTSL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N6G6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N6G6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N6G6
Splice isoforms : SwissVarQ8N6G6
PhosPhoSitePlusQ8N6G6
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    PLAC (PS50900)    TSP1 (PS50092)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    Peptidase_M12B_ADAM-TS    PLAC    TSP1_rpt   
Domain families : Pfam (Sanger)I-set (PF07679)    PLAC (PF08686)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam07679    pfam08686    pfam00090   
Domain families : Smart (EMBL)IGc2 (SM00408)  TSP1 (SM00209)  
Conserved Domain (NCBI)ADAMTSL1
DMDM Disease mutations92949
Blocks (Seattle)ADAMTSL1
SuperfamilyQ8N6G6
Human Protein AtlasENSG00000178031
Peptide AtlasQ8N6G6
HPRD16462
IPIIPI00414931   IPI00377098   IPI00157513   IPI00967648   IPI00973465   IPI00953341   IPI00644479   IPI00853339   IPI00853194   IPI01015722   
Protein Interaction databases
DIP (DOE-UCLA)Q8N6G6
IntAct (EBI)Q8N6G6
FunCoupENSG00000178031
BioGRIDADAMTSL1
STRING (EMBL)ADAMTSL1
ZODIACADAMTSL1
Ontologies - Pathways
QuickGOQ8N6G6
Ontology : AmiGOproteinaceous extracellular matrix  endoplasmic reticulum lumen  proteolysis  metallopeptidase activity  zinc ion binding  protein O-linked fucosylation  
Ontology : EGO-EBIproteinaceous extracellular matrix  endoplasmic reticulum lumen  proteolysis  metallopeptidase activity  zinc ion binding  protein O-linked fucosylation  
NDEx NetworkADAMTSL1
Atlas of Cancer Signalling NetworkADAMTSL1
Wikipedia pathwaysADAMTSL1
Orthology - Evolution
OrthoDB92949
GeneTree (enSembl)ENSG00000178031
Phylogenetic Trees/Animal Genes : TreeFamADAMTSL1
HOVERGENQ8N6G6
HOGENOMQ8N6G6
Homologs : HomoloGeneADAMTSL1
Homology/Alignments : Family Browser (UCSC)ADAMTSL1
Gene fusions - Rearrangements
Fusion : MitelmanADAMTSL1/UHRF2 [9p22.2/9p24.1]  
Fusion : MitelmanTOPORS/ADAMTSL1 [9p21.1/9p22.2]  [t(9;9)(p21;p22)]  
Fusion : MitelmanUHRF2/ADAMTSL1 [9p24.1/9p22.2]  [t(9;9)(p22;p24)]  
Fusion: TCGATOPORS 9p21.1 ADAMTSL1 9p22.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAMTSL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTSL1
dbVarADAMTSL1
ClinVarADAMTSL1
1000_GenomesADAMTSL1 
Exome Variant ServerADAMTSL1
ExAC (Exome Aggregation Consortium)ADAMTSL1 (select the gene name)
Genetic variants : HAPMAP92949
Genomic Variants (DGV)ADAMTSL1 [DGVbeta]
DECIPHER (Syndromes)9:18474079-18910947  ENSG00000178031
CONAN: Copy Number AnalysisADAMTSL1 
Mutations
ICGC Data PortalADAMTSL1 
TCGA Data PortalADAMTSL1 
Broad Tumor PortalADAMTSL1
OASIS PortalADAMTSL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTSL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADAMTSL1
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 ADAMTSL1
DgiDB (Drug Gene Interaction Database)ADAMTSL1
DoCM (Curated mutations)ADAMTSL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTSL1 (select a term)
intoGenADAMTSL1
Cancer3DADAMTSL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609198   
Orphanet
MedgenADAMTSL1
Genetic Testing Registry ADAMTSL1
NextProtQ8N6G6 [Medical]
TSGene92949
GENETestsADAMTSL1
Huge Navigator ADAMTSL1 [HugePedia]
snp3D : Map Gene to Disease92949
BioCentury BCIQADAMTSL1
ClinGenADAMTSL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92949
Chemical/Pharm GKB GenePA24554
Clinical trialADAMTSL1
Miscellaneous
canSAR (ICR)ADAMTSL1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTSL1
EVEXADAMTSL1
GoPubMedADAMTSL1
iHOPADAMTSL1
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 12:54:54 CET 2017

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