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SEZ6 (seizure related 6 homolog)

Identity

Alias_namesseizure related 6 homolog (mouse)
Other aliasBSRPC
HGNC (Hugo) SEZ6
LocusID (NCBI) 124925
Atlas_Id 73161
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 28954929 and ends at 29006063 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAM222B (17q11.2) / SEZ6 (17q11.2)FLOT2 (17q11.2) / SEZ6 (17q11.2)KIAA0100 (17q11.2) / SEZ6 (17q11.2)
LRRC75A-AS1 (17p11.2) / SEZ6 (17q11.2)PHF12 (17q11.2) / SEZ6 (17q11.2)WIPF2 (17q21.1) / SEZ6 (17q11.2)
WIPF2 SEZ6KIAA0100 SEZ6C17orf63 SEZ6
PHF12 SEZ6

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)SEZ6   15955
Cards
Entrez_Gene (NCBI)SEZ6  124925  seizure related 6 homolog
AliasesBSRPC
GeneCards (Weizmann)SEZ6
Ensembl hg19 (Hinxton)ENSG00000063015 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000063015 [Gene_View]  chr17:28954929-29006063 [Contig_View]  SEZ6 [Vega]
ICGC DataPortalENSG00000063015
TCGA cBioPortalSEZ6
AceView (NCBI)SEZ6
Genatlas (Paris)SEZ6
WikiGenes124925
SOURCE (Princeton)SEZ6
Genetics Home Reference (NIH)SEZ6
Genomic and cartography
GoldenPath hg38 (UCSC)SEZ6  -     chr17:28954929-29006063 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEZ6  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblSEZ6 - 17q11.2 [CytoView hg19]  SEZ6 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBISEZ6 [Mapview hg19]  SEZ6 [Mapview hg38]
OMIM616666   
Gene and transcription
Genbank (Entrez)AF502129 AF502130 AK054913 AK055383 AK091522
RefSeq transcript (Entrez)NM_001098635 NM_001290202 NM_178860
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEZ6
Cluster EST : UnigeneHs.21837 [ NCBI ]
CGAP (NCI)Hs.21837
Alternative Splicing GalleryENSG00000063015
Gene ExpressionSEZ6 [ NCBI-GEO ]   SEZ6 [ EBI - ARRAY_EXPRESS ]   SEZ6 [ SEEK ]   SEZ6 [ MEM ]
Gene Expression Viewer (FireBrowse)SEZ6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124925
GTEX Portal (Tissue expression)SEZ6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53EL9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53EL9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53EL9
Splice isoforms : SwissVarQ53EL9
PhosPhoSitePlusQ53EL9
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    SUSHI (PS50923)   
Domains : Interpro (EBI)CUB_dom    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00431    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  
Conserved Domain (NCBI)SEZ6
DMDM Disease mutations124925
Blocks (Seattle)SEZ6
SuperfamilyQ53EL9
Human Protein AtlasENSG00000063015
Peptide AtlasQ53EL9
HPRD18041
IPIIPI00154734   IPI00895805   IPI00748395   IPI00895924   IPI00940661   IPI01012704   IPI01013174   IPI01013735   IPI01011460   IPI01013670   IPI01012521   IPI01011196   
Protein Interaction databases
DIP (DOE-UCLA)Q53EL9
IntAct (EBI)Q53EL9
FunCoupENSG00000063015
BioGRIDSEZ6
STRING (EMBL)SEZ6
ZODIACSEZ6
Ontologies - Pathways
QuickGOQ53EL9
Ontology : AmiGOextracellular space  endoplasmic reticulum  plasma membrane  adult locomotory behavior  integral component of membrane  cerebellar Purkinje cell layer development  neuronal cell body  dendritic spine  dendritic shaft  perinuclear region of cytoplasm  synapse maturation  excitatory postsynaptic potential  regulation of protein kinase C signaling  apical dendrite  positive regulation of dendrite development  negative regulation of dendrite development  
Ontology : EGO-EBIextracellular space  endoplasmic reticulum  plasma membrane  adult locomotory behavior  integral component of membrane  cerebellar Purkinje cell layer development  neuronal cell body  dendritic spine  dendritic shaft  perinuclear region of cytoplasm  synapse maturation  excitatory postsynaptic potential  regulation of protein kinase C signaling  apical dendrite  positive regulation of dendrite development  negative regulation of dendrite development  
NDEx NetworkSEZ6
Atlas of Cancer Signalling NetworkSEZ6
Wikipedia pathwaysSEZ6
Orthology - Evolution
OrthoDB124925
GeneTree (enSembl)ENSG00000063015
Phylogenetic Trees/Animal Genes : TreeFamSEZ6
HOVERGENQ53EL9
HOGENOMQ53EL9
Homologs : HomoloGeneSEZ6
Homology/Alignments : Family Browser (UCSC)SEZ6
Gene fusions - Rearrangements
Fusion: TCGAWIPF2 SEZ6
Fusion: TCGAKIAA0100 SEZ6
Fusion: TCGAC17orf63 SEZ6
Fusion: TCGAPHF12 SEZ6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEZ6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEZ6
dbVarSEZ6
ClinVarSEZ6
1000_GenomesSEZ6 
Exome Variant ServerSEZ6
ExAC (Exome Aggregation Consortium)SEZ6 (select the gene name)
Genetic variants : HAPMAP124925
Genomic Variants (DGV)SEZ6 [DGVbeta]
DECIPHERSEZ6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEZ6 
Mutations
ICGC Data PortalSEZ6 
TCGA Data PortalSEZ6 
Broad Tumor PortalSEZ6
OASIS PortalSEZ6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEZ6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEZ6
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 SEZ6
DgiDB (Drug Gene Interaction Database)SEZ6
DoCM (Curated mutations)SEZ6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEZ6 (select a term)
intoGenSEZ6
Cancer3DSEZ6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616666   
Orphanet
MedgenSEZ6
Genetic Testing Registry SEZ6
NextProtQ53EL9 [Medical]
TSGene124925
GENETestsSEZ6
Target ValidationSEZ6
Huge Navigator SEZ6 [HugePedia]
snp3D : Map Gene to Disease124925
BioCentury BCIQSEZ6
ClinGenSEZ6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124925
Chemical/Pharm GKB GenePA38065
Clinical trialSEZ6
Miscellaneous
canSAR (ICR)SEZ6 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEZ6
EVEXSEZ6
GoPubMedSEZ6
iHOPSEZ6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:40:29 CEST 2017

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