Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SEPT4 (septin 4)

Identity

Alias_namesPNUTL2
peanut-like 2 (Drosophila)
Alias_symbol (synonym)H5
CE5B3
hucep-7
ARTS
hCDCREL-2
MART
Other aliasBRADEION
SEP4
HGNC (Hugo) Sep-04
LocusID (NCBI) 5414
Atlas_Id 46050
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 56597611 and ends at 56618179 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DYNLL2 17q22 / SEPT4 17q22SUPT4H1 17q22 / SEPT4 17q22WDR45L SEPT4 17q22

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)Sep-04   9165
Cards
Entrez_Gene (NCBI)SEPT4  5414  septin 4
AliasesARTS; BRADEION; CE5B3; H5; 
MART; PNUTL2; SEP4; hCDCREL-2; hucep-7
GeneCards (Weizmann)SEPT4
Ensembl hg19 (Hinxton)ENSG00000108387 [Gene_View]  chr17:56597611-56618179 [Contig_View]  SEPT4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108387 [Gene_View]  chr17:56597611-56618179 [Contig_View]  SEPT4 [Vega]
ICGC DataPortalENSG00000108387
TCGA cBioPortalSEPT4
AceView (NCBI)SEPT4
Genatlas (Paris)SEPT4
WikiGenes5414
SOURCE (Princeton)SEPT4
Genetics Home Reference (NIH)SEPT4
Genomic and cartography
GoldenPath hg19 (UCSC)SEPT4  -     chr17:56597611-56618179 -  17q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SEPT4  -     17q22   [Description]    (hg38-Dec_2013)
EnsemblSEPT4 - 17q22 [CytoView hg19]  SEPT4 - 17q22 [CytoView hg38]
Mapping of homologs : NCBISEPT4 [Mapview hg19]  SEPT4 [Mapview hg38]
OMIM603696   
Gene and transcription
Genbank (Entrez)AB002110 AB008753 AB010642 AF035811 AF073312
RefSeq transcript (Entrez)NM_001198713 NM_001256782 NM_001256822 NM_004574 NM_080415 NM_080416 NM_080417
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_029570 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)SEPT4
Cluster EST : UnigeneHs.287518 [ NCBI ]
CGAP (NCI)Hs.287518
Alternative Splicing GalleryENSG00000108387
Gene ExpressionSEPT4 [ NCBI-GEO ]   SEPT4 [ EBI - ARRAY_EXPRESS ]   SEPT4 [ SEEK ]   SEPT4 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPT4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5414
GTEX Portal (Tissue expression)SEPT4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43236   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43236  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43236
Splice isoforms : SwissVarO43236
PhosPhoSitePlusO43236
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin    Septin4   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPT4
DMDM Disease mutations5414
Blocks (Seattle)SEPT4
SuperfamilyO43236
Human Protein AtlasENSG00000108387
Peptide AtlasO43236
HPRD04738
IPIIPI00939537   IPI00183878   IPI00952695   IPI00011589   IPI00953305   IPI00026430   IPI00044767   IPI00956132   
Protein Interaction databases
DIP (DOE-UCLA)O43236
IntAct (EBI)O43236
FunCoupENSG00000108387
BioGRIDSEPT4
STRING (EMBL)SEPT4
ZODIACSEPT4
Ontologies - Pathways
QuickGOO43236
Ontology : AmiGOGTPase activity  structural molecule activity  protein binding  GTP binding  nucleus  nucleoplasm  mitochondrion  cytoskeleton  apoptotic process  cell cycle  brain development  sperm mitochondrion organization  positive regulation of protein ubiquitination  regulation of apoptotic process  positive regulation of apoptotic process  myelin sheath  sperm capacitation  cell division  sperm annulus  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIGTPase activity  structural molecule activity  protein binding  GTP binding  nucleus  nucleoplasm  mitochondrion  cytoskeleton  apoptotic process  cell cycle  brain development  sperm mitochondrion organization  positive regulation of protein ubiquitination  regulation of apoptotic process  positive regulation of apoptotic process  myelin sheath  sperm capacitation  cell division  sperm annulus  positive regulation of intrinsic apoptotic signaling pathway  
NDEx NetworkSEPT4
Atlas of Cancer Signalling NetworkSEPT4
Wikipedia pathwaysSEPT4
Orthology - Evolution
OrthoDB5414
GeneTree (enSembl)ENSG00000108387
Phylogenetic Trees/Animal Genes : TreeFamSep-04
HOVERGENO43236
HOGENOMO43236
Homologs : HomoloGeneSEPT4
Homology/Alignments : Family Browser (UCSC)SEPT4
Gene fusions - Rearrangements
Fusion : MitelmanWDR45B/SEPT4 [17q25.3/17q22]  [t(17;17)(q22;q25)]  
Fusion: TCGADYNLL2 17q22 SEPT4 17q22 BRCA
Fusion: TCGASUPT4H1 17q22 SEPT4 17q22 BRCA
Fusion: TCGAWDR45L SEPT4 17q22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPT4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPT4
dbVarSEPT4
ClinVarSEPT4
1000_GenomesSEPT4 
Exome Variant ServerSEPT4
ExAC (Exome Aggregation Consortium)SEPT4 (select the gene name)
Genetic variants : HAPMAP5414
Genomic Variants (DGV)SEPT4 [DGVbeta]
DECIPHER (Syndromes)17:56597611-56618179  ENSG00000108387
CONAN: Copy Number AnalysisSEPT4 
Mutations
ICGC Data PortalSep-04 
TCGA Data PortalSep-04 
Broad Tumor PortalSep-04
OASIS PortalSep-04 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEPT4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSep-04
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 SEPT4
DgiDB (Drug Gene Interaction Database)SEPT4
DoCM (Curated mutations)SEPT4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPT4 (select a term)
intoGenSEPT4
Cancer3DSEPT4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603696   
Orphanet
MedgenSEPT4
Genetic Testing Registry SEPT4
NextProtO43236 [Medical]
TSGene5414
GENETestsSEPT4
Huge Navigator Sep-04 [HugePedia]
snp3D : Map Gene to Disease5414
BioCentury BCIQSEPT4
ClinGenSEPT4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5414
Chemical/Pharm GKB GenePA33487
Clinical trialSEPT4
Miscellaneous
canSAR (ICR)SEPT4 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPT4
EVEXSEPT4
GoPubMedSEPT4
iHOPSEPT4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:26:43 CET 2017

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