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FAM83D (family with sequence similarity 83 member D)

Identity

Alias (NCBI)C20orf129
CHICA
dJ616B8.3
HGNC (Hugo) FAM83D
HGNC Alias symbdJ616B8.3
CHICA
HGNC Previous nameC20orf129
HGNC Previous namechromosome 20 open reading frame 129
 family with sequence similarity 83, member D
LocusID (NCBI) 81610
Atlas_Id 55023
Location 20q11.23  [Link to chromosome band 20q11]
Location_base_pair Starts at 38926417 and ends at 38953106 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FAM83D (20q11.23) / SF3B3 (16q22.1)FAM83D (20q11.23) / SPECC1L (22q11.23)ZNF107 (7q11.21) / FAM83D (20q11.23)
FAM83D 20q11.23 / SF3B3 16q22.1FAM83D 20q11.23 / SPECC1L 22q11.23ZNF107 7q11.21 / FAM83D 20q11.23

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)FAM83D   16122
Cards
Entrez_Gene (NCBI)FAM83D    family with sequence similarity 83 member D
AliasesC20orf129; CHICA; dJ616B8.3
GeneCards (Weizmann)FAM83D
Ensembl hg19 (Hinxton)ENSG00000101447 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101447 [Gene_View]  ENSG00000101447 [Sequence]  chr20:38926417-38953106 [Contig_View]  FAM83D [Vega]
ICGC DataPortalENSG00000101447
TCGA cBioPortalFAM83D
AceView (NCBI)FAM83D
Genatlas (Paris)FAM83D
SOURCE (Princeton)FAM83D
Genetics Home Reference (NIH)FAM83D
Genomic and cartography
GoldenPath hg38 (UCSC)FAM83D  -     chr20:38926417-38953106 +  20q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM83D  -     20q11.23   [Description]    (hg19-Feb_2009)
GoldenPathFAM83D - 20q11.23 [CytoView hg19]  FAM83D - 20q11.23 [CytoView hg38]
ImmunoBaseENSG00000101447
genome Data Viewer NCBIFAM83D [Mapview hg19]  
OMIM618380   
Gene and transcription
Genbank (Entrez)AK055793 AK095660 AK303860 AL832274 BC001068
RefSeq transcript (Entrez)NM_030919
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM83D
Alternative Splicing GalleryENSG00000101447
Gene ExpressionFAM83D [ NCBI-GEO ]   FAM83D [ EBI - ARRAY_EXPRESS ]   FAM83D [ SEEK ]   FAM83D [ MEM ]
Gene Expression Viewer (FireBrowse)FAM83D [ Firebrowse - Broad ]
GenevisibleExpression of FAM83D in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81610
GTEX Portal (Tissue expression)FAM83D
Human Protein AtlasENSG00000101447-FAM83D [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4H8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4H8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4H8
Splice isoforms : SwissVarQ9H4H8
PhosPhoSitePlusQ9H4H8
Domains : Interpro (EBI)FAM83_N   
Domain families : Pfam (Sanger)FAM83 (PF07894)   
Domain families : Pfam (NCBI)pfam07894   
Conserved Domain (NCBI)FAM83D
Blocks (Seattle)FAM83D
PDB (RSDB)5E0L    5E0M   
PDB Europe5E0L    5E0M   
PDB (PDBSum)5E0L    5E0M   
PDB (IMB)5E0L    5E0M   
Structural Biology KnowledgeBase5E0L    5E0M   
SCOP (Structural Classification of Proteins)5E0L    5E0M   
CATH (Classification of proteins structures)5E0L    5E0M   
SuperfamilyQ9H4H8
Human Protein Atlas [tissue]ENSG00000101447-FAM83D [tissue]
Peptide AtlasQ9H4H8
HPRD12744
IPIIPI00922140   IPI00480103   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4H8
IntAct (EBI)Q9H4H8
BioGRIDFAM83D
STRING (EMBL)FAM83D
ZODIACFAM83D
Ontologies - Pathways
QuickGOQ9H4H8
Ontology : AmiGOepithelial to mesenchymal transition  protein binding  cytoplasm  cytoplasm  spindle  cytosol  cytosol  signal transduction  microtubule binding  cell population proliferation  microtubule cytoskeleton  cell migration  kinesin binding  protein kinase binding  protein kinase binding  regulation of TOR signaling  regulation of TOR signaling  regulation of protein catabolic process  intercellular bridge  cell division  metaphase plate congression  regulation of ERK1 and ERK2 cascade  regulation of ERK1 and ERK2 cascade  mitotic spindle  mitotic spindle pole  mitotic spindle pole  protein localization to mitotic spindle  protein localization to mitotic spindle  positive regulation of cell cycle G1/S phase transition  positive regulation of cell cycle G1/S phase transition  
Ontology : EGO-EBIepithelial to mesenchymal transition  protein binding  cytoplasm  cytoplasm  spindle  cytosol  cytosol  signal transduction  microtubule binding  cell population proliferation  microtubule cytoskeleton  cell migration  kinesin binding  protein kinase binding  protein kinase binding  regulation of TOR signaling  regulation of TOR signaling  regulation of protein catabolic process  intercellular bridge  cell division  metaphase plate congression  regulation of ERK1 and ERK2 cascade  regulation of ERK1 and ERK2 cascade  mitotic spindle  mitotic spindle pole  mitotic spindle pole  protein localization to mitotic spindle  protein localization to mitotic spindle  positive regulation of cell cycle G1/S phase transition  positive regulation of cell cycle G1/S phase transition  
NDEx NetworkFAM83D
Atlas of Cancer Signalling NetworkFAM83D
Wikipedia pathwaysFAM83D
Orthology - Evolution
OrthoDB81610
GeneTree (enSembl)ENSG00000101447
Phylogenetic Trees/Animal Genes : TreeFamFAM83D
HOGENOMQ9H4H8
Homologs : HomoloGeneFAM83D
Homology/Alignments : Family Browser (UCSC)FAM83D
Gene fusions - Rearrangements
Fusion : MitelmanFAM83D/SF3B3 [20q11.23/16q22.1]  
Fusion : MitelmanFAM83D/SPECC1L [20q11.23/22q11.23]  
Fusion : MitelmanZNF107/FAM83D [7q11.21/20q11.23]  
Fusion PortalFAM83D 20q11.23 SF3B3 16q22.1 BRCA
Fusion PortalFAM83D 20q11.23 SPECC1L 22q11.23 BRCA
Fusion PortalZNF107 7q11.21 FAM83D 20q11.23 BRCA
Fusion : QuiverFAM83D
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM83D [hg38]
dbVarFAM83D
ClinVarFAM83D
MonarchFAM83D
1000_GenomesFAM83D 
Exome Variant ServerFAM83D
GNOMAD BrowserENSG00000101447
Varsome BrowserFAM83D
Genomic Variants (DGV)FAM83D [DGVbeta]
DECIPHERFAM83D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM83D 
Mutations
ICGC Data PortalFAM83D 
TCGA Data PortalFAM83D 
Broad Tumor PortalFAM83D
OASIS PortalFAM83D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM83D  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFAM83D
Mutations and Diseases : HGMDFAM83D
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM83D
DgiDB (Drug Gene Interaction Database)FAM83D
DoCM (Curated mutations)FAM83D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM83D (select a term)
intoGenFAM83D
Cancer3DFAM83D(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618380   
Orphanet
DisGeNETFAM83D
MedgenFAM83D
Genetic Testing Registry FAM83D
NextProtQ9H4H8 [Medical]
GENETestsFAM83D
Target ValidationFAM83D
Huge Navigator FAM83D [HugePedia]
ClinGenFAM83D
Clinical trials, drugs, therapy
MyCancerGenomeFAM83D
Protein Interactions : CTD
Pharm GKB GenePA25670
PharosQ9H4H8
Clinical trialFAM83D
Miscellaneous
canSAR (ICR)FAM83D (select the gene name)
HarmonizomeFAM83D
DataMed IndexFAM83D
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFAM83D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 25 19:20:58 CET 2021
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