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FAM83H (family with sequence similarity 83 member H)

Identity

Alias_namesfamily with sequence similarity 83
Alias_symbol (synonym)FLJ46072
Other aliasAI3
HGNC (Hugo) FAM83H
LocusID (NCBI) 286077
Atlas_Id 54078
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144806103 and ends at 144815914 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SRGAP3 (3p25.3) / FAM83H (8q24.3)SRGAP3 3p25.3 / FAM83H 8q24.3

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)FAM83H   24797
Cards
Entrez_Gene (NCBI)FAM83H  286077  family with sequence similarity 83 member H
AliasesAI3
GeneCards (Weizmann)FAM83H
Ensembl hg19 (Hinxton)ENSG00000180921 [Gene_View]  chr8:144806103-144815914 [Contig_View]  FAM83H [Vega]
Ensembl hg38 (Hinxton)ENSG00000180921 [Gene_View]  chr8:144806103-144815914 [Contig_View]  FAM83H [Vega]
ICGC DataPortalENSG00000180921
TCGA cBioPortalFAM83H
AceView (NCBI)FAM83H
Genatlas (Paris)FAM83H
WikiGenes286077
SOURCE (Princeton)FAM83H
Genetics Home Reference (NIH)FAM83H
Genomic and cartography
GoldenPath hg19 (UCSC)FAM83H  -     chr8:144806103-144815914 -  8q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FAM83H  -     8q24.3   [Description]    (hg38-Dec_2013)
EnsemblFAM83H - 8q24.3 [CytoView hg19]  FAM83H - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIFAM83H [Mapview hg19]  FAM83H [Mapview hg38]
OMIM130900   611927   
Gene and transcription
Genbank (Entrez)AF370424 AK127960 BC007264 BC033256 BE856638
RefSeq transcript (Entrez)NM_198488
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_016652 NT_008046 NT_187571 NW_004929340
Consensus coding sequences : CCDS (NCBI)FAM83H
Cluster EST : UnigeneHs.713170 [ NCBI ]
CGAP (NCI)Hs.713170
Alternative Splicing GalleryENSG00000180921
Gene ExpressionFAM83H [ NCBI-GEO ]   FAM83H [ EBI - ARRAY_EXPRESS ]   FAM83H [ SEEK ]   FAM83H [ MEM ]
Gene Expression Viewer (FireBrowse)FAM83H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286077
GTEX Portal (Tissue expression)FAM83H
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZRV2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZRV2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZRV2
Splice isoforms : SwissVarQ6ZRV2
PhosPhoSitePlusQ6ZRV2
Domains : Interpro (EBI)DUF1669   
Domain families : Pfam (Sanger)DUF1669 (PF07894)   
Domain families : Pfam (NCBI)pfam07894   
Conserved Domain (NCBI)FAM83H
DMDM Disease mutations286077
Blocks (Seattle)FAM83H
SuperfamilyQ6ZRV2
Human Protein AtlasENSG00000180921
Peptide AtlasQ6ZRV2
HPRD13521
IPIIPI00784320   IPI00435920   IPI00974117   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZRV2
IntAct (EBI)Q6ZRV2
FunCoupENSG00000180921
BioGRIDFAM83H
STRING (EMBL)FAM83H
ZODIACFAM83H
Ontologies - Pathways
QuickGOQ6ZRV2
Ontology : AmiGOcytoplasm  protein kinase binding  positive regulation of cell migration  biomineral tissue development  protein localization to cytoskeleton  keratin filament  intermediate filament cytoskeleton organization  keratin filament binding  
Ontology : EGO-EBIcytoplasm  protein kinase binding  positive regulation of cell migration  biomineral tissue development  protein localization to cytoskeleton  keratin filament  intermediate filament cytoskeleton organization  keratin filament binding  
NDEx NetworkFAM83H
Atlas of Cancer Signalling NetworkFAM83H
Wikipedia pathwaysFAM83H
Orthology - Evolution
OrthoDB286077
GeneTree (enSembl)ENSG00000180921
Phylogenetic Trees/Animal Genes : TreeFamFAM83H
HOVERGENQ6ZRV2
HOGENOMQ6ZRV2
Homologs : HomoloGeneFAM83H
Homology/Alignments : Family Browser (UCSC)FAM83H
Gene fusions - Rearrangements
Fusion : MitelmanSRGAP3/FAM83H [3p25.3/8q24.3]  [t(3;8)(p25;q24)]  
Fusion: TCGASRGAP3 3p25.3 FAM83H 8q24.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM83H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM83H
dbVarFAM83H
ClinVarFAM83H
1000_GenomesFAM83H 
Exome Variant ServerFAM83H
ExAC (Exome Aggregation Consortium)FAM83H (select the gene name)
Genetic variants : HAPMAP286077
Genomic Variants (DGV)FAM83H [DGVbeta]
DECIPHER (Syndromes)8:144806103-144815914  ENSG00000180921
CONAN: Copy Number AnalysisFAM83H 
Mutations
ICGC Data PortalFAM83H 
TCGA Data PortalFAM83H 
Broad Tumor PortalFAM83H
OASIS PortalFAM83H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM83H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM83H
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 FAM83H
DgiDB (Drug Gene Interaction Database)FAM83H
DoCM (Curated mutations)FAM83H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM83H (select a term)
intoGenFAM83H
Cancer3DFAM83H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130900    611927   
Orphanet14605   
MedgenFAM83H
Genetic Testing Registry FAM83H
NextProtQ6ZRV2 [Medical]
TSGene286077
GENETestsFAM83H
Huge Navigator FAM83H [HugePedia]
snp3D : Map Gene to Disease286077
BioCentury BCIQFAM83H
ClinGenFAM83H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD286077
Chemical/Pharm GKB GenePA144596434
Clinical trialFAM83H
Miscellaneous
canSAR (ICR)FAM83H (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM83H
EVEXFAM83H
GoPubMedFAM83H
iHOPFAM83H
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 13:05:34 CET 2017

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