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EXPH5 (exophilin 5)

Identity

Alias_symbol (synonym)SLAC2-B
Other aliasSLAC2B
HGNC (Hugo) EXPH5
LocusID (NCBI) 23086
Atlas_Id 62956
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 108505431 and ends at 108552205 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EXPH5 (11q22.3) / UBE2V1 (20q13.13)

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)EXPH5   30578
Cards
Entrez_Gene (NCBI)EXPH5  23086  exophilin 5
AliasesSLAC2-B; SLAC2B
GeneCards (Weizmann)EXPH5
Ensembl hg19 (Hinxton)ENSG00000110723 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110723 [Gene_View]  chr11:108505431-108552205 [Contig_View]  EXPH5 [Vega]
ICGC DataPortalENSG00000110723
TCGA cBioPortalEXPH5
AceView (NCBI)EXPH5
Genatlas (Paris)EXPH5
WikiGenes23086
SOURCE (Princeton)EXPH5
Genetics Home Reference (NIH)EXPH5
Genomic and cartography
GoldenPath hg38 (UCSC)EXPH5  -     chr11:108505431-108552205 -  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXPH5  -     11q22.3   [Description]    (hg19-Feb_2009)
EnsemblEXPH5 - 11q22.3 [CytoView hg19]  EXPH5 - 11q22.3 [CytoView hg38]
Mapping of homologs : NCBIEXPH5 [Mapview hg19]  EXPH5 [Mapview hg38]
OMIM612878   615028   
Gene and transcription
Genbank (Entrez)AB014524 AI203086 AK025008 AK303993 AK304212
RefSeq transcript (Entrez)NM_001144763 NM_001144764 NM_001144765 NM_001308019 NM_015065
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXPH5
Cluster EST : UnigeneHs.28540 [ NCBI ]
CGAP (NCI)Hs.28540
Alternative Splicing GalleryENSG00000110723
Gene ExpressionEXPH5 [ NCBI-GEO ]   EXPH5 [ EBI - ARRAY_EXPRESS ]   EXPH5 [ SEEK ]   EXPH5 [ MEM ]
Gene Expression Viewer (FireBrowse)EXPH5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23086
GTEX Portal (Tissue expression)EXPH5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEV8
Splice isoforms : SwissVarQ8NEV8
PhosPhoSitePlusQ8NEV8
Domaine pattern : Prosite (Expaxy)RABBD (PS50916)   
Domains : Interpro (EBI)Rab_BD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EXPH5
DMDM Disease mutations23086
Blocks (Seattle)EXPH5
SuperfamilyQ8NEV8
Human Protein AtlasENSG00000110723
Peptide AtlasQ8NEV8
HPRD08341
IPIIPI00335771   IPI00168769   IPI00909952   IPI00921309   IPI00985151   IPI00980767   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEV8
IntAct (EBI)Q8NEV8
FunCoupENSG00000110723
BioGRIDEXPH5
STRING (EMBL)EXPH5
ZODIACEXPH5
Ontologies - Pathways
QuickGOQ8NEV8
Ontology : AmiGOkeratinocyte development  endosome  intracellular protein transport  Rab GTPase binding  positive regulation of exocytosis  positive regulation of protein secretion  multivesicular body sorting pathway  
Ontology : EGO-EBIkeratinocyte development  endosome  intracellular protein transport  Rab GTPase binding  positive regulation of exocytosis  positive regulation of protein secretion  multivesicular body sorting pathway  
NDEx NetworkEXPH5
Atlas of Cancer Signalling NetworkEXPH5
Wikipedia pathwaysEXPH5
Orthology - Evolution
OrthoDB23086
GeneTree (enSembl)ENSG00000110723
Phylogenetic Trees/Animal Genes : TreeFamEXPH5
HOVERGENQ8NEV8
HOGENOMQ8NEV8
Homologs : HomoloGeneEXPH5
Homology/Alignments : Family Browser (UCSC)EXPH5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXPH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXPH5
dbVarEXPH5
ClinVarEXPH5
1000_GenomesEXPH5 
Exome Variant ServerEXPH5
ExAC (Exome Aggregation Consortium)EXPH5 (select the gene name)
Genetic variants : HAPMAP23086
Genomic Variants (DGV)EXPH5 [DGVbeta]
DECIPHEREXPH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXPH5 
Mutations
ICGC Data PortalEXPH5 
TCGA Data PortalEXPH5 
Broad Tumor PortalEXPH5
OASIS PortalEXPH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXPH5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXPH5
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 EXPH5
DgiDB (Drug Gene Interaction Database)EXPH5
DoCM (Curated mutations)EXPH5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXPH5 (select a term)
intoGenEXPH5
Cancer3DEXPH5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612878    615028   
Orphanet23044   
MedgenEXPH5
Genetic Testing Registry EXPH5
NextProtQ8NEV8 [Medical]
TSGene23086
GENETestsEXPH5
Target ValidationEXPH5
Huge Navigator EXPH5 [HugePedia]
snp3D : Map Gene to Disease23086
BioCentury BCIQEXPH5
ClinGenEXPH5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23086
Chemical/Pharm GKB GenePA142671900
Clinical trialEXPH5
Miscellaneous
canSAR (ICR)EXPH5 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXPH5
EVEXEXPH5
GoPubMedEXPH5
iHOPEXPH5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:07:27 CEST 2017

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