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SEPT1 (septin 1)

Identity

Alias_namesDIFF6
Alias_symbol (synonym)PNUTL3
Other aliasLARP
SEP1
HGNC (Hugo) SEPT1
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)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;11)(q37;q23) KMT2A/SEPT2


External links

Nomenclature
HGNC (Hugo)SEPT1   2879
Cards
Entrez_Gene (NCBI)SEPT1  1731  septin 1
AliasesDIFF6; LARP; PNUTL3; SEP1
GeneCards (Weizmann)SEPT1
Ensembl hg19 (Hinxton)ENSG00000180096 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180096 [Gene_View]  chr16:30378133-30382850 [Contig_View]  SEPT1 [Vega]
ICGC DataPortalENSG00000180096
TCGA cBioPortalSEPT1
AceView (NCBI)SEPT1
Genatlas (Paris)SEPT1
WikiGenes1731
SOURCE (Princeton)SEPT1
Genetics Home Reference (NIH)SEPT1
Genomic and cartography
GoldenPath hg38 (UCSC)SEPT1  -     chr16:30378133-30382850 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPT1  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblSEPT1 - 16p11.2 [CytoView hg19]  SEPT1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBISEPT1 [Mapview hg19]  SEPT1 [Mapview hg38]
OMIM612897   
Gene and transcription
Genbank (Entrez)AF085235 AK301045 AK303390 AL833004 AY034176
RefSeq transcript (Entrez)NM_052838
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPT1
Cluster EST : UnigeneHs.632176 [ NCBI ]
CGAP (NCI)Hs.632176
Alternative Splicing GalleryENSG00000180096
Gene ExpressionSEPT1 [ NCBI-GEO ]   SEPT1 [ EBI - ARRAY_EXPRESS ]   SEPT1 [ SEEK ]   SEPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1731
GTEX Portal (Tissue expression)SEPT1
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
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)SEPT1
DMDM Disease mutations1731
Blocks (Seattle)SEPT1
SuperfamilyQ8WYJ6
Human Protein AtlasENSG00000180096
Peptide AtlasQ8WYJ6
HPRD15324
IPIIPI00910257   IPI00790521   
Protein Interaction databases
DIP (DOE-UCLA)Q8WYJ6
IntAct (EBI)Q8WYJ6
FunCoupENSG00000180096
BioGRIDSEPT1
STRING (EMBL)SEPT1
ZODIACSEPT1
Ontologies - Pathways
QuickGOQ8WYJ6
Ontology : AmiGOprotein binding  GTP binding  cytoplasm  microtubule organizing center  cell cycle  midbody  identical protein binding  cell division  
Ontology : EGO-EBIprotein binding  GTP binding  cytoplasm  microtubule organizing center  cell cycle  midbody  identical protein binding  cell division  
Pathways : KEGGBacterial invasion of epithelial cells   
NDEx NetworkSEPT1
Atlas of Cancer Signalling NetworkSEPT1
Wikipedia pathwaysSEPT1
Orthology - Evolution
OrthoDB1731
GeneTree (enSembl)ENSG00000180096
Phylogenetic Trees/Animal Genes : TreeFamSEPT1
HOVERGENQ8WYJ6
HOGENOMQ8WYJ6
Homologs : HomoloGeneSEPT1
Homology/Alignments : Family Browser (UCSC)SEPT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPT1
dbVarSEPT1
ClinVarSEPT1
1000_GenomesSEPT1 
Exome Variant ServerSEPT1
ExAC (Exome Aggregation Consortium)SEPT1 (select the gene name)
Genetic variants : HAPMAP1731
Genomic Variants (DGV)SEPT1 [DGVbeta]
DECIPHERSEPT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPT1 
Mutations
ICGC Data PortalSEPT1 
TCGA Data PortalSEPT1 
Broad Tumor PortalSEPT1
OASIS PortalSEPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEPT1
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 SEPT1
DgiDB (Drug Gene Interaction Database)SEPT1
DoCM (Curated mutations)SEPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPT1 (select a term)
intoGenSEPT1
Cancer3DSEPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612897   
Orphanet
MedgenSEPT1
Genetic Testing Registry SEPT1
NextProtQ8WYJ6 [Medical]
TSGene1731
GENETestsSEPT1
Target ValidationSEPT1
Huge Navigator SEPT1 [HugePedia]
snp3D : Map Gene to Disease1731
BioCentury BCIQSEPT1
ClinGenSEPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1731
Chemical/Pharm GKB GenePA24354
Clinical trialSEPT1
Miscellaneous
canSAR (ICR)SEPT1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPT1
EVEXSEPT1
GoPubMedSEPT1
iHOPSEPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:54:54 CEST 2017

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