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SEZ6L (seizure related 6 homolog like)

Identity

Alias_namesseizure related gene 6 (mouse)-like
Other alias-
HGNC (Hugo) SEZ6L
LocusID (NCBI) 23544
Atlas_Id 49889
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 26169474 and ends at 26383597 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CELSR1 (22q13.31) / SEZ6L (22q12.1)SEZ6L (22q12.1) / CDH22 (20q13.12)SEZ6L (22q12.1) / GAP43 (3q13.31)
SEZ6L (22q12.1) / GGA2 (16p12.2)SEZ6L (22q12.1) / PHF3 (6q12)SEZ6L (22q12.1) / SEZ6L (22q12.1)
CELSR1 22q13.31 / SEZ6L 22q12.1

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)SEZ6L   10763
Cards
Entrez_Gene (NCBI)SEZ6L  23544  seizure related 6 homolog like
Aliases
GeneCards (Weizmann)SEZ6L
Ensembl hg19 (Hinxton)ENSG00000100095 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100095 [Gene_View]  chr22:26169474-26383597 [Contig_View]  SEZ6L [Vega]
ICGC DataPortalENSG00000100095
TCGA cBioPortalSEZ6L
AceView (NCBI)SEZ6L
Genatlas (Paris)SEZ6L
WikiGenes23544
SOURCE (Princeton)SEZ6L
Genetics Home Reference (NIH)SEZ6L
Genomic and cartography
GoldenPath hg38 (UCSC)SEZ6L  -     chr22:26169474-26383597 +  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEZ6L  -     22q12.1   [Description]    (hg19-Feb_2009)
EnsemblSEZ6L - 22q12.1 [CytoView hg19]  SEZ6L - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBISEZ6L [Mapview hg19]  SEZ6L [Mapview hg38]
OMIM607021   
Gene and transcription
Genbank (Entrez)AB023144 AB041736 AK294790 AL035545 AL050253
RefSeq transcript (Entrez)NM_001184773 NM_001184774 NM_001184775 NM_001184776 NM_001184777 NM_021115
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEZ6L
Cluster EST : UnigeneHs.194766 [ NCBI ]
CGAP (NCI)Hs.194766
Alternative Splicing GalleryENSG00000100095
Gene ExpressionSEZ6L [ NCBI-GEO ]   SEZ6L [ EBI - ARRAY_EXPRESS ]   SEZ6L [ SEEK ]   SEZ6L [ MEM ]
Gene Expression Viewer (FireBrowse)SEZ6L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23544
GTEX Portal (Tissue expression)SEZ6L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYH1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYH1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYH1
Splice isoforms : SwissVarQ9BYH1
PhosPhoSitePlusQ9BYH1
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)SEZ6L
DMDM Disease mutations23544
Blocks (Seattle)SEZ6L
PDB (SRS)2YRA   
PDB (PDBSum)2YRA   
PDB (IMB)2YRA   
PDB (RSDB)2YRA   
Structural Biology KnowledgeBase2YRA   
SCOP (Structural Classification of Proteins)2YRA   
CATH (Classification of proteins structures)2YRA   
SuperfamilyQ9BYH1
Human Protein AtlasENSG00000100095
Peptide AtlasQ9BYH1
HPRD08449
IPIIPI00157417   IPI00220334   IPI00554736   IPI00879665   IPI00908808   IPI00982027   IPI00981361   IPI00163788   IPI00220333   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYH1
IntAct (EBI)Q9BYH1
FunCoupENSG00000100095
BioGRIDSEZ6L
STRING (EMBL)SEZ6L
ZODIACSEZ6L
Ontologies - Pathways
QuickGOQ9BYH1
Ontology : AmiGOendoplasmic reticulum membrane  adult locomotory behavior  integral component of membrane  cerebellar Purkinje cell layer development  neuronal cell body  synapse maturation  regulation of protein kinase C signaling  
Ontology : EGO-EBIendoplasmic reticulum membrane  adult locomotory behavior  integral component of membrane  cerebellar Purkinje cell layer development  neuronal cell body  synapse maturation  regulation of protein kinase C signaling  
NDEx NetworkSEZ6L
Atlas of Cancer Signalling NetworkSEZ6L
Wikipedia pathwaysSEZ6L
Orthology - Evolution
OrthoDB23544
GeneTree (enSembl)ENSG00000100095
Phylogenetic Trees/Animal Genes : TreeFamSEZ6L
HOVERGENQ9BYH1
HOGENOMQ9BYH1
Homologs : HomoloGeneSEZ6L
Homology/Alignments : Family Browser (UCSC)SEZ6L
Gene fusions - Rearrangements
Fusion : MitelmanCELSR1/SEZ6L [22q13.31/22q12.1]  [t(22;22)(q12;q13)]  
Fusion: TCGACELSR1 22q13.31 SEZ6L 22q12.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEZ6L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEZ6L
dbVarSEZ6L
ClinVarSEZ6L
1000_GenomesSEZ6L 
Exome Variant ServerSEZ6L
ExAC (Exome Aggregation Consortium)SEZ6L (select the gene name)
Genetic variants : HAPMAP23544
Genomic Variants (DGV)SEZ6L [DGVbeta]
DECIPHERSEZ6L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEZ6L 
Mutations
ICGC Data PortalSEZ6L 
TCGA Data PortalSEZ6L 
Broad Tumor PortalSEZ6L
OASIS PortalSEZ6L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEZ6L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEZ6L
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 SEZ6L
DgiDB (Drug Gene Interaction Database)SEZ6L
DoCM (Curated mutations)SEZ6L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEZ6L (select a term)
intoGenSEZ6L
Cancer3DSEZ6L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607021   
Orphanet
MedgenSEZ6L
Genetic Testing Registry SEZ6L
NextProtQ9BYH1 [Medical]
TSGene23544
GENETestsSEZ6L
Huge Navigator SEZ6L [HugePedia]
snp3D : Map Gene to Disease23544
BioCentury BCIQSEZ6L
ClinGenSEZ6L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23544
Chemical/Pharm GKB GenePA35681
Clinical trialSEZ6L
Miscellaneous
canSAR (ICR)SEZ6L (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEZ6L
EVEXSEZ6L
GoPubMedSEZ6L
iHOPSEZ6L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:36:52 CEST 2017

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