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SEPTIN12 (septin 12)

Identity

Other aliasSEPT12
SPGF10
HGNC (Hugo) SEPTIN12
LocusID (NCBI) 124404
Atlas_Id 53651
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 4777606 and ends at 4788345 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)
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


External links

Nomenclature
HGNC (Hugo)SEPTIN12   26348
Cards
Entrez_Gene (NCBI)SEPTIN12  124404  septin 12
AliasesSEPT12; SPGF10
GeneCards (Weizmann)SEPTIN12
Ensembl hg19 (Hinxton)ENSG00000140623 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140623 [Gene_View]  ENSG00000140623 [Sequence]  chr16:4777606-4788345 [Contig_View]  SEPTIN12 [Vega]
ICGC DataPortalENSG00000140623
TCGA cBioPortalSEPTIN12
AceView (NCBI)SEPTIN12
Genatlas (Paris)SEPTIN12
WikiGenes124404
SOURCE (Princeton)SEPTIN12
Genetics Home Reference (NIH)SEPTIN12
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN12  -     chr16:4777606-4788345 -  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPTIN12  -     -   [Description]    (hg19-Feb_2009)
GoldenPathSEPTIN12 - - [CytoView hg19]  SEPTIN12 - - [CytoView hg38]
Genome Data Viewer NCBISEPTIN12 [Mapview hg19]  
OMIM611562   614822   
Gene and transcription
Genbank (Entrez)AI554914 AK058139 AK098718 BC024017 BC035619
RefSeq transcript (Entrez)NM_001154458 NM_144605
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN12
Alternative Splicing GalleryENSG00000140623
Gene ExpressionSEPTIN12 [ NCBI-GEO ]   SEPTIN12 [ EBI - ARRAY_EXPRESS ]   SEPTIN12 [ SEEK ]   SEPTIN12 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN12 [ Firebrowse - Broad ]
GenevisibleExpression of SEPTIN12 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124404
GTEX Portal (Tissue expression)SEPTIN12
Human Protein AtlasENSG00000140623-SEPTIN12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYM1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYM1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYM1
Splice isoforms : SwissVarQ8IYM1
PhosPhoSitePlusQ8IYM1
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPTIN12
DMDM Disease mutations124404
PDB (RSDB)6MQ9    6MQB    6MQK    6MQL   
PDB Europe6MQ9    6MQB    6MQK    6MQL   
PDB (PDBSum)6MQ9    6MQB    6MQK    6MQL   
PDB (IMB)6MQ9    6MQB    6MQK    6MQL   
Structural Biology KnowledgeBase6MQ9    6MQB    6MQK    6MQL   
SCOP (Structural Classification of Proteins)6MQ9    6MQB    6MQK    6MQL   
CATH (Classification of proteins structures)6MQ9    6MQB    6MQK    6MQL   
SuperfamilyQ8IYM1
Human Protein Atlas [tissue]ENSG00000140623-SEPTIN12 [tissue]
Peptide AtlasQ8IYM1
HPRD08061
Protein Interaction databases
DIP (DOE-UCLA)Q8IYM1
IntAct (EBI)Q8IYM1
FunCoupENSG00000140623
BioGRIDSEPTIN12
STRING (EMBL)SEPTIN12
ZODIACSEPTIN12
Ontologies - Pathways
QuickGOQ8IYM1
Ontology : AmiGOstress fiber  GTPase activity  protein binding  GTP binding  GTP binding  nucleus  spindle  septin ring  spermatogenesis  microtubule cytoskeleton  microtubule cytoskeleton  GDP binding  cell differentiation  flagellated sperm motility  midbody  septin complex  septin complex  septin complex  cell division site  cleavage furrow  cellular protein localization  phosphatidylinositol binding  identical protein binding  protein homodimerization activity  protein homodimerization activity  perinuclear region of cytoplasm  molecular adaptor activity  cytoskeleton-dependent cytokinesis  sperm annulus  
Ontology : EGO-EBIstress fiber  GTPase activity  protein binding  GTP binding  GTP binding  nucleus  spindle  septin ring  spermatogenesis  microtubule cytoskeleton  microtubule cytoskeleton  GDP binding  cell differentiation  flagellated sperm motility  midbody  septin complex  septin complex  septin complex  cell division site  cleavage furrow  cellular protein localization  phosphatidylinositol binding  identical protein binding  protein homodimerization activity  protein homodimerization activity  perinuclear region of cytoplasm  molecular adaptor activity  cytoskeleton-dependent cytokinesis  sperm annulus  
Pathways : KEGGBacterial invasion of epithelial cells   
NDEx NetworkSEPTIN12
Atlas of Cancer Signalling NetworkSEPTIN12
Wikipedia pathwaysSEPTIN12
Orthology - Evolution
OrthoDB124404
GeneTree (enSembl)ENSG00000140623
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN12
HOGENOMQ8IYM1
Homologs : HomoloGeneSEPTIN12
Homology/Alignments : Family Browser (UCSC)SEPTIN12
Gene fusions - Rearrangements
Fusion : QuiverSEPTIN12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN12
dbVarSEPTIN12
ClinVarSEPTIN12
1000_GenomesSEPTIN12 
Exome Variant ServerSEPTIN12
GNOMAD BrowserENSG00000140623
Varsome BrowserSEPTIN12
Genetic variants : HAPMAP124404
Genomic Variants (DGV)SEPTIN12 [DGVbeta]
DECIPHERSEPTIN12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN12 
Mutations
ICGC Data PortalSEPTIN12 
TCGA Data PortalSEPTIN12 
Broad Tumor PortalSEPTIN12
OASIS PortalSEPTIN12 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN12
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutaselect SEPTIN12
DgiDB (Drug Gene Interaction Database)SEPTIN12
DoCM (Curated mutations)SEPTIN12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN12 (select a term)
intoGenSEPTIN12
Cancer3DSEPTIN12 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611562    614822   
Orphanet20358   
DisGeNETSEPTIN12
MedgenSEPTIN12
Genetic Testing Registry SEPTIN12
NextProtQ8IYM1 [Medical]
TSGene124404
GENETestsSEPTIN12
Open Targets GeneticsENSG00000140623  [validation]
snp3D : Map Gene to Disease124404
BioCentury BCIQSEPTIN12
ClinGenSEPTIN12
Clinical trials, drugs, therapy
Protein Interactions : CTD124404
Pharm GKB GenePA162402916
Clinical trialSEPTIN12
Miscellaneous
canSAR (ICR)SEPTIN12 (select the gene name)
HarmonizomeSEPTIN12
DataMed IndexSEPTIN12
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN12
EVEXSEPTIN12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:10:45 CEST 2020

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