Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1)

Identity

Alias_namesC9orf13
chromosome 9 open reading frame 13
Alias_symbol (synonym)bA427L11.3
POLYDOM
FLJ13529
Other aliasCCP22
SEL-OB
SELOB
HGNC (Hugo) SVEP1
LocusID (NCBI) 79987
Atlas_Id 74389
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 110365249 and ends at 110579880 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSH1 (17q23.3) / SVEP1 (9q31.3)PTBP3 (9q32) / SVEP1 (9q31.3)SVEP1 (9q31.3) / BCYRN1 (Xq13.1)
ZKSCAN1 (7q22.1) / SVEP1 (9q31.3)

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)SVEP1   15985
Cards
Entrez_Gene (NCBI)SVEP1  79987  sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
AliasesC9orf13; CCP22; POLYDOM; SEL-OB; 
SELOB
GeneCards (Weizmann)SVEP1
Ensembl hg19 (Hinxton)ENSG00000165124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165124 [Gene_View]  chr9:110365249-110579880 [Contig_View]  SVEP1 [Vega]
ICGC DataPortalENSG00000165124
TCGA cBioPortalSVEP1
AceView (NCBI)SVEP1
Genatlas (Paris)SVEP1
WikiGenes79987
SOURCE (Princeton)SVEP1
Genetics Home Reference (NIH)SVEP1
Genomic and cartography
GoldenPath hg38 (UCSC)SVEP1  -     chr9:110365249-110579880 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SVEP1  -     9q31.3   [Description]    (hg19-Feb_2009)
EnsemblSVEP1 - 9q31.3 [CytoView hg19]  SVEP1 - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBISVEP1 [Mapview hg19]  SVEP1 [Mapview hg38]
OMIM611691   
Gene and transcription
Genbank (Entrez)AJ619977 AK075200 AK075234 AK122605 AL832416
RefSeq transcript (Entrez)NM_153366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SVEP1
Cluster EST : UnigeneHs.726867 [ NCBI ]
CGAP (NCI)Hs.726867
Alternative Splicing GalleryENSG00000165124
Gene ExpressionSVEP1 [ NCBI-GEO ]   SVEP1 [ EBI - ARRAY_EXPRESS ]   SVEP1 [ SEEK ]   SVEP1 [ MEM ]
Gene Expression Viewer (FireBrowse)SVEP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79987
GTEX Portal (Tissue expression)SVEP1
Human Protein AtlasENSG00000165124-SVEP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4LDE5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4LDE5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4LDE5
Splice isoforms : SwissVarQ4LDE5
PhosPhoSitePlusQ4LDE5
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    HYR (PS50825)    PTX_2 (PS51828)    SUSHI (PS50923)    VWFA (PS50234)   
Domains : Interpro (EBI)ConA-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    GFP-like    Growth_fac_rcpt_    HYR_dom    Pentraxin-related    Sushi_SCR_CCP_dom    Tyr-kin_ephrin_A/B_rcpt-like    VWF_A   
Domain families : Pfam (Sanger)EGF (PF00008)    EGF_CA (PF07645)    Ephrin_rec_like (PF07699)    hEGF (PF12661)    HYR (PF02494)    Pentaxin (PF00354)    Sushi (PF00084)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam00008    pfam07645    pfam07699    pfam12661    pfam02494    pfam00354    pfam00084    pfam00092   
Domain families : Smart (EMBL)CCP (SM00032)  EGF (SM00181)  EGF_CA (SM00179)  Ephrin_rec_like (SM01411)  PTX (SM00159)  VWA (SM00327)  
Conserved Domain (NCBI)SVEP1
DMDM Disease mutations79987
Blocks (Seattle)SVEP1
SuperfamilyQ4LDE5
Human Protein Atlas [tissue]ENSG00000165124-SVEP1 [tissue]
Peptide AtlasQ4LDE5
IPIIPI00885181   IPI01012873   IPI00939415   IPI00983332   IPI00965068   
Protein Interaction databases
DIP (DOE-UCLA)Q4LDE5
IntAct (EBI)Q4LDE5
FunCoupENSG00000165124
BioGRIDSVEP1
STRING (EMBL)SVEP1
ZODIACSVEP1
Ontologies - Pathways
QuickGOQ4LDE5
Ontology : AmiGOchromatin binding  calcium ion binding  extracellular space  cytoplasm  cell adhesion  membrane  
Ontology : EGO-EBIchromatin binding  calcium ion binding  extracellular space  cytoplasm  cell adhesion  membrane  
NDEx NetworkSVEP1
Atlas of Cancer Signalling NetworkSVEP1
Wikipedia pathwaysSVEP1
Orthology - Evolution
OrthoDB79987
GeneTree (enSembl)ENSG00000165124
Phylogenetic Trees/Animal Genes : TreeFamSVEP1
HOVERGENQ4LDE5
HOGENOMQ4LDE5
Homologs : HomoloGeneSVEP1
Homology/Alignments : Family Browser (UCSC)SVEP1
Gene fusions - Rearrangements
Tumor Fusion PortalSVEP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSVEP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SVEP1
dbVarSVEP1
ClinVarSVEP1
1000_GenomesSVEP1 
Exome Variant ServerSVEP1
ExAC (Exome Aggregation Consortium)ENSG00000165124
GNOMAD BrowserENSG00000165124
Genetic variants : HAPMAP79987
Genomic Variants (DGV)SVEP1 [DGVbeta]
DECIPHERSVEP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSVEP1 
Mutations
ICGC Data PortalSVEP1 
TCGA Data PortalSVEP1 
Broad Tumor PortalSVEP1
OASIS PortalSVEP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSVEP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSVEP1
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 SVEP1
DgiDB (Drug Gene Interaction Database)SVEP1
DoCM (Curated mutations)SVEP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SVEP1 (select a term)
intoGenSVEP1
Cancer3DSVEP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611691   
Orphanet
DisGeNETSVEP1
MedgenSVEP1
Genetic Testing Registry SVEP1
NextProtQ4LDE5 [Medical]
TSGene79987
GENETestsSVEP1
Target ValidationSVEP1
Huge Navigator SVEP1 [HugePedia]
snp3D : Map Gene to Disease79987
BioCentury BCIQSVEP1
ClinGenSVEP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79987
Chemical/Pharm GKB GenePA25971
Clinical trialSVEP1
Miscellaneous
canSAR (ICR)SVEP1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSVEP1
EVEXSVEP1
GoPubMedSVEP1
iHOPSVEP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 13:20:50 CET 2017

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