Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SEPTIN1 (septin 1)

Identity

Alias_namesDIFF6
Alias_symbol (synonym)PNUTL3
Other aliasLARP
SEP1
SEPT1
HGNC (Hugo) SEPTIN1
LocusID (NCBI) 1731
Atlas_Id 42261
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30378133 and ends at 30382850 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)SEPTIN1   2879
Cards
Entrez_Gene (NCBI)SEPTIN1  1731  septin 1
AliasesDIFF6; LARP; PNUTL3; SEP1; 
SEPT1
GeneCards (Weizmann)SEPTIN1
Ensembl hg19 (Hinxton)ENSG00000180096 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180096 [Gene_View]  ENSG00000180096 [Sequence]  chr16:30378133-30382850 [Contig_View]  SEPTIN1 [Vega]
ICGC DataPortalENSG00000180096
TCGA cBioPortalSEPTIN1
AceView (NCBI)SEPTIN1
Genatlas (Paris)SEPTIN1
WikiGenes1731
SOURCE (Princeton)SEPTIN1
Genetics Home Reference (NIH)SEPTIN1
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN1  -     chr16:30378133-30382850 -  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPTIN1  -     -   [Description]    (hg19-Feb_2009)
GoldenPathSEPTIN1 - - [CytoView hg19]  SEPTIN1 - - [CytoView hg38]
ImmunoBaseENSG00000180096
Mapping of homologs : NCBISEPTIN1 [Mapview hg19]  SEPTIN1 [Mapview hg38]
OMIM612897   
Gene and transcription
Genbank (Entrez)AF085235 AK301045 AK303390 AL833004 AY034176
RefSeq transcript (Entrez)NM_001365977 NM_052838
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN1
Cluster EST : UnigeneHs.632176 [ NCBI ]
CGAP (NCI)Hs.632176
Alternative Splicing GalleryENSG00000180096
Gene ExpressionSEPTIN1 [ NCBI-GEO ]   SEPTIN1 [ EBI - ARRAY_EXPRESS ]   SEPTIN1 [ SEEK ]   SEPTIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1731
GTEX Portal (Tissue expression)SEPTIN1
Human Protein AtlasENSG00000180096-SEPTIN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WYJ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WYJ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WYJ6
Splice isoforms : SwissVarQ8WYJ6
Catalytic activity : Enzyme3.1.5.1 [ Enzyme-Expasy ]   3.1.5.13.1.5.1 [ IntEnz-EBI ]   3.1.5.1 [ BRENDA ]   3.1.5.1 [ KEGG ]   
PhosPhoSitePlusQ8WYJ6
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)SEPTIN1
DMDM Disease mutations1731
Blocks (Seattle)SEPTIN1
SuperfamilyQ8WYJ6
Human Protein Atlas [tissue]ENSG00000180096-SEPTIN1 [tissue]
Peptide AtlasQ8WYJ6
HPRD15324
IPIIPI00910257   IPI00790521   
Protein Interaction databases
DIP (DOE-UCLA)Q8WYJ6
IntAct (EBI)Q8WYJ6
FunCoupENSG00000180096
BioGRIDSEPTIN1
STRING (EMBL)SEPTIN1
ZODIACSEPTIN1
Ontologies - Pathways
QuickGOQ8WYJ6
Ontology : AmiGOGTPase activity  protein binding  GTP binding  microtubule organizing center  septin ring  synaptic vesicle  microtubule cytoskeleton  regulation of exocytosis  midbody  septin complex  identical protein binding  cytoskeleton-dependent cytokinesis  
Ontology : EGO-EBIGTPase activity  protein binding  GTP binding  microtubule organizing center  septin ring  synaptic vesicle  microtubule cytoskeleton  regulation of exocytosis  midbody  septin complex  identical protein binding  cytoskeleton-dependent cytokinesis  
NDEx NetworkSEPTIN1
Atlas of Cancer Signalling NetworkSEPTIN1
Wikipedia pathwaysSEPTIN1
Orthology - Evolution
OrthoDB1731
GeneTree (enSembl)ENSG00000180096
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN1
HOGENOMQ8WYJ6
Homologs : HomoloGeneSEPTIN1
Homology/Alignments : Family Browser (UCSC)SEPTIN1
Gene fusions - Rearrangements
Fusion : QuiverSEPTIN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN1
dbVarSEPTIN1
ClinVarSEPTIN1
1000_GenomesSEPTIN1 
Exome Variant ServerSEPTIN1
ExAC (Exome Aggregation Consortium)ENSG00000180096
GNOMAD BrowserENSG00000180096
Varsome BrowserSEPTIN1
Genetic variants : HAPMAP1731
Genomic Variants (DGV)SEPTIN1 [DGVbeta]
DECIPHERSEPTIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN1 
Mutations
ICGC Data PortalSEPTIN1 
TCGA Data PortalSEPTIN1 
Broad Tumor PortalSEPTIN1
OASIS PortalSEPTIN1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN1
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 SEPTIN1
DgiDB (Drug Gene Interaction Database)SEPTIN1
DoCM (Curated mutations)SEPTIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN1 (select a term)
intoGenSEPTIN1
Cancer3DSEPTIN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612897   
Orphanet
DisGeNETSEPTIN1
MedgenSEPTIN1
Genetic Testing Registry SEPTIN1
NextProtQ8WYJ6 [Medical]
TSGene1731
GENETestsSEPTIN1
Target ValidationSEPTIN1
Huge Navigator SEPTIN1 [HugePedia]
snp3D : Map Gene to Disease1731
BioCentury BCIQSEPTIN1
ClinGenSEPTIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1731
Chemical/Pharm GKB GenePA24354
Clinical trialSEPTIN1
Miscellaneous
canSAR (ICR)SEPTIN1 (select the gene name)
DataMed IndexSEPTIN1
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN1
EVEXSEPTIN1
GoPubMedSEPTIN1
iHOPSEPTIN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 15:54:49 CEST 2019

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