Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SEMA5A (semaphorin 5A)

Identity

Alias_namesSEMAF
sema domain
Alias_symbol (synonym)semF
Other alias
HGNC (Hugo) SEMA5A
LocusID (NCBI) 9037
Atlas_Id 42257
Location 5p15.31  [Link to chromosome band 5p15]
Location_base_pair Starts at 9035026 and ends at 9546121 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)
ROPN1L (5p15.2) / SEMA5A (5p15.31)SEMA5A (5p15.31) / GCNT2 (6p24.3)SEMA5A (5p15.31) / ROPN1L (5p15.2)
SEMA5A (5p15.31) / SRRM4 (12q24.23)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SEMA5A   10736
Cards
Entrez_Gene (NCBI)SEMA5A  9037  semaphorin 5A
AliasesSEMAF; semF
GeneCards (Weizmann)SEMA5A
Ensembl hg19 (Hinxton)ENSG00000112902 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112902 [Gene_View]  chr5:9035026-9546121 [Contig_View]  SEMA5A [Vega]
ICGC DataPortalENSG00000112902
TCGA cBioPortalSEMA5A
AceView (NCBI)SEMA5A
Genatlas (Paris)SEMA5A
WikiGenes9037
SOURCE (Princeton)SEMA5A
Genetics Home Reference (NIH)SEMA5A
Genomic and cartography
GoldenPath hg38 (UCSC)SEMA5A  -     chr5:9035026-9546121 -  5p15.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEMA5A  -     5p15.31   [Description]    (hg19-Feb_2009)
EnsemblSEMA5A - 5p15.31 [CytoView hg19]  SEMA5A - 5p15.31 [CytoView hg38]
Mapping of homologs : NCBISEMA5A [Mapview hg19]  SEMA5A [Mapview hg38]
OMIM609297   
Gene and transcription
Genbank (Entrez)AF009314 AF056434 AK022877 AK293441 AK307587
RefSeq transcript (Entrez)NM_003966
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEMA5A
Cluster EST : UnigeneHs.27621 [ NCBI ]
CGAP (NCI)Hs.27621
Alternative Splicing GalleryENSG00000112902
Gene ExpressionSEMA5A [ NCBI-GEO ]   SEMA5A [ EBI - ARRAY_EXPRESS ]   SEMA5A [ SEEK ]   SEMA5A [ MEM ]
Gene Expression Viewer (FireBrowse)SEMA5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9037
GTEX Portal (Tissue expression)SEMA5A
Human Protein AtlasENSG00000112902-SEMA5A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13591   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13591  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13591
Splice isoforms : SwissVarQ13591
PhosPhoSitePlusQ13591
Domaine pattern : Prosite (Expaxy)SEMA (PS51004)    TSP1 (PS50092)   
Domains : Interpro (EBI)PSI    Semap_dom    Semaphorin    TSP1_rpt    WD40/YVTN_repeat-like_dom   
Domain families : Pfam (Sanger)Sema (PF01403)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam01403    pfam00090   
Domain families : Smart (EMBL)PSI (SM00423)  Sema (SM00630)  TSP1 (SM00209)  
Conserved Domain (NCBI)SEMA5A
DMDM Disease mutations9037
Blocks (Seattle)SEMA5A
SuperfamilyQ13591
Human Protein Atlas [tissue]ENSG00000112902-SEMA5A [tissue]
Peptide AtlasQ13591
HPRD10219
IPIIPI00013880   IPI00964483   IPI00967247   IPI00964193   
Protein Interaction databases
DIP (DOE-UCLA)Q13591
IntAct (EBI)Q13591
FunCoupENSG00000112902
BioGRIDSEMA5A
STRING (EMBL)SEMA5A
ZODIACSEMA5A
Ontologies - Pathways
QuickGOQ13591
Ontology : AmiGOpositive regulation of endothelial cell proliferation  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  plasma membrane  cell adhesion  negative regulation of cell adhesion  cell-cell signaling  nervous system development  axonal fasciculation  membrane  integral component of membrane  diencephalon development  semaphorin receptor binding  positive regulation of actin filament depolymerization  chondroitin sulfate proteoglycan binding  positive regulation of catenin import into nucleus  heparan sulfate proteoglycan binding  syndecan binding  positive regulation of angiogenesis  positive regulation of axon extension involved in axon guidance  negative regulation of axon extension involved in axon guidance  positive chemotaxis  positive regulation of protein kinase B signaling  cell chemotaxis  extracellular exosome  signal clustering  negative regulation of endothelial cell apoptotic process  positive regulation of endothelial cell chemotaxis  
Ontology : EGO-EBIpositive regulation of endothelial cell proliferation  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  plasma membrane  cell adhesion  negative regulation of cell adhesion  cell-cell signaling  nervous system development  axonal fasciculation  membrane  integral component of membrane  diencephalon development  semaphorin receptor binding  positive regulation of actin filament depolymerization  chondroitin sulfate proteoglycan binding  positive regulation of catenin import into nucleus  heparan sulfate proteoglycan binding  syndecan binding  positive regulation of angiogenesis  positive regulation of axon extension involved in axon guidance  negative regulation of axon extension involved in axon guidance  positive chemotaxis  positive regulation of protein kinase B signaling  cell chemotaxis  extracellular exosome  signal clustering  negative regulation of endothelial cell apoptotic process  positive regulation of endothelial cell chemotaxis  
Pathways : KEGGAxon guidance   
NDEx NetworkSEMA5A
Atlas of Cancer Signalling NetworkSEMA5A
Wikipedia pathwaysSEMA5A
Orthology - Evolution
OrthoDB9037
GeneTree (enSembl)ENSG00000112902
Phylogenetic Trees/Animal Genes : TreeFamSEMA5A
HOVERGENQ13591
HOGENOMQ13591
Homologs : HomoloGeneSEMA5A
Homology/Alignments : Family Browser (UCSC)SEMA5A
Gene fusions - Rearrangements
Fusion : MitelmanROPN1L/SEMA5A [5p15.2/5p15.31]  [t(5;5)(p15;p15)]  
Fusion : MitelmanSEMA5A/ROPN1L [5p15.31/5p15.2]  [t(5;5)(p15;p15)]  
Tumor Fusion PortalSEMA5A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEMA5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEMA5A
dbVarSEMA5A
ClinVarSEMA5A
1000_GenomesSEMA5A 
Exome Variant ServerSEMA5A
ExAC (Exome Aggregation Consortium)ENSG00000112902
GNOMAD BrowserENSG00000112902
Genetic variants : HAPMAP9037
Genomic Variants (DGV)SEMA5A [DGVbeta]
DECIPHERSEMA5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEMA5A 
Mutations
ICGC Data PortalSEMA5A 
TCGA Data PortalSEMA5A 
Broad Tumor PortalSEMA5A
OASIS PortalSEMA5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEMA5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEMA5A
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 SEMA5A
DgiDB (Drug Gene Interaction Database)SEMA5A
DoCM (Curated mutations)SEMA5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEMA5A (select a term)
intoGenSEMA5A
Cancer3DSEMA5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609297   
Orphanet201   
DisGeNETSEMA5A
MedgenSEMA5A
Genetic Testing Registry SEMA5A
NextProtQ13591 [Medical]
TSGene9037
GENETestsSEMA5A
Target ValidationSEMA5A
Huge Navigator SEMA5A [HugePedia]
snp3D : Map Gene to Disease9037
BioCentury BCIQSEMA5A
ClinGenSEMA5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9037
Chemical/Pharm GKB GenePA35658
Clinical trialSEMA5A
Miscellaneous
canSAR (ICR)SEMA5A (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEMA5A
EVEXSEMA5A
GoPubMedSEMA5A
iHOPSEMA5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:33:59 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.