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SYNE4 (spectrin repeat containing nuclear envelope family member 4)

Identity

Alias_namesC19orf46
DFNB76
chromosome 19 open reading frame 46
deafness, autosomal recessive 76
Alias_symbol (synonym)FLJ36445
Nesprin-4
Nesp4
Other aliasKASH4
HGNC (Hugo) SYNE4
LocusID (NCBI) 163183
Atlas_Id 74414
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 36003299 and ends at 36008793 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

 


External links

Nomenclature
HGNC (Hugo)SYNE4   26703
Cards
Entrez_Gene (NCBI)SYNE4  163183  spectrin repeat containing nuclear envelope family member 4
AliasesC19orf46; DFNB76; KASH4; Nesp4
GeneCards (Weizmann)SYNE4
Ensembl hg19 (Hinxton)ENSG00000181392 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181392 [Gene_View]  chr19:36003299-36008793 [Contig_View]  SYNE4 [Vega]
ICGC DataPortalENSG00000181392
TCGA cBioPortalSYNE4
AceView (NCBI)SYNE4
Genatlas (Paris)SYNE4
WikiGenes163183
SOURCE (Princeton)SYNE4
Genetics Home Reference (NIH)SYNE4
Genomic and cartography
GoldenPath hg38 (UCSC)SYNE4  -     chr19:36003299-36008793 -  19q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYNE4  -     19q13.12   [Description]    (hg19-Feb_2009)
EnsemblSYNE4 - 19q13.12 [CytoView hg19]  SYNE4 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBISYNE4 [Mapview hg19]  SYNE4 [Mapview hg38]
OMIM615535   615540   
Gene and transcription
Genbank (Entrez)AA991508 AK093764 BC038360 BC052573 CB241656
RefSeq transcript (Entrez)NM_001039876 NM_001297735 NM_153233
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SYNE4
Cluster EST : UnigeneHs.436743 [ NCBI ]
CGAP (NCI)Hs.436743
Alternative Splicing GalleryENSG00000181392
Gene ExpressionSYNE4 [ NCBI-GEO ]   SYNE4 [ EBI - ARRAY_EXPRESS ]   SYNE4 [ SEEK ]   SYNE4 [ MEM ]
Gene Expression Viewer (FireBrowse)SYNE4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)163183
GTEX Portal (Tissue expression)SYNE4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N205   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N205  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N205
Splice isoforms : SwissVarQ8N205
PhosPhoSitePlusQ8N205
Domaine pattern : Prosite (Expaxy)KASH (PS51049)   
Domains : Interpro (EBI)KASH   
Domain families : Pfam (Sanger)KASH (PF10541)   
Domain families : Pfam (NCBI)pfam10541   
Domain families : Smart (EMBL)KASH (SM01249)  
Conserved Domain (NCBI)SYNE4
DMDM Disease mutations163183
Blocks (Seattle)SYNE4
SuperfamilyQ8N205
Human Protein AtlasENSG00000181392
Peptide AtlasQ8N205
HPRD08776
IPIIPI00788878   IPI00385570   IPI00966096   IPI00968236   IPI01009676   
Protein Interaction databases
DIP (DOE-UCLA)Q8N205
IntAct (EBI)Q8N205
FunCoupENSG00000181392
BioGRIDSYNE4
STRING (EMBL)SYNE4
ZODIACSYNE4
Ontologies - Pathways
QuickGOQ8N205
Ontology : AmiGOprotein binding  integral component of nuclear outer membrane  establishment of epithelial cell apical/basal polarity  establishment of epithelial cell apical/basal polarity  
Ontology : EGO-EBIprotein binding  integral component of nuclear outer membrane  establishment of epithelial cell apical/basal polarity  establishment of epithelial cell apical/basal polarity  
NDEx NetworkSYNE4
Atlas of Cancer Signalling NetworkSYNE4
Wikipedia pathwaysSYNE4
Orthology - Evolution
OrthoDB163183
GeneTree (enSembl)ENSG00000181392
Phylogenetic Trees/Animal Genes : TreeFamSYNE4
HOVERGENQ8N205
HOGENOMQ8N205
Homologs : HomoloGeneSYNE4
Homology/Alignments : Family Browser (UCSC)SYNE4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYNE4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNE4
dbVarSYNE4
ClinVarSYNE4
1000_GenomesSYNE4 
Exome Variant ServerSYNE4
ExAC (Exome Aggregation Consortium)SYNE4 (select the gene name)
Genetic variants : HAPMAP163183
Genomic Variants (DGV)SYNE4 [DGVbeta]
DECIPHERSYNE4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYNE4 
Mutations
ICGC Data PortalSYNE4 
TCGA Data PortalSYNE4 
Broad Tumor PortalSYNE4
OASIS PortalSYNE4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSYNE4
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 SYNE4
DgiDB (Drug Gene Interaction Database)SYNE4
DoCM (Curated mutations)SYNE4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNE4 (select a term)
intoGenSYNE4
Cancer3DSYNE4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615535    615540   
Orphanet12047   
MedgenSYNE4
Genetic Testing Registry SYNE4
NextProtQ8N205 [Medical]
TSGene163183
GENETestsSYNE4
Target ValidationSYNE4
Huge Navigator SYNE4 [HugePedia]
snp3D : Map Gene to Disease163183
BioCentury BCIQSYNE4
ClinGenSYNE4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD163183
Chemical/Pharm GKB GenePA145149542
Clinical trialSYNE4
Miscellaneous
canSAR (ICR)SYNE4 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNE4
EVEXSYNE4
GoPubMedSYNE4
iHOPSYNE4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:44:40 CEST 2017

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