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FAM193B (family with sequence similarity 193 member B)

Identity

Alias_namesfamily with sequence similarity 193
Alias_symbol (synonym)KIAA1931
FLJ10404
IRIZIO
Other alias
HGNC (Hugo) FAM193B
LocusID (NCBI) 54540
Atlas_Id 52267
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 176946790 and ends at 176981586 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL23A1 (5q35.3) / FAM193B (5q35.3)DYNC1H1 (14q32.31) / FAM193B (5q35.3)FAM193B (5q35.3) / FAM193B (5q35.3)
COL23A1 5q35.3 / FAM193B 5q35.3

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)FAM193B   25524
Cards
Entrez_Gene (NCBI)FAM193B  54540  family with sequence similarity 193 member B
AliasesIRIZIO
GeneCards (Weizmann)FAM193B
Ensembl hg19 (Hinxton)ENSG00000146067 [Gene_View]  chr5:176946790-176981586 [Contig_View]  FAM193B [Vega]
Ensembl hg38 (Hinxton)ENSG00000146067 [Gene_View]  chr5:176946790-176981586 [Contig_View]  FAM193B [Vega]
ICGC DataPortalENSG00000146067
TCGA cBioPortalFAM193B
AceView (NCBI)FAM193B
Genatlas (Paris)FAM193B
WikiGenes54540
SOURCE (Princeton)FAM193B
Genetics Home Reference (NIH)FAM193B
Genomic and cartography
GoldenPath hg19 (UCSC)FAM193B  -     chr5:176946790-176981586 -  5q35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FAM193B  -     5q35.3   [Description]    (hg38-Dec_2013)
EnsemblFAM193B - 5q35.3 [CytoView hg19]  FAM193B - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIFAM193B [Mapview hg19]  FAM193B [Mapview hg38]
OMIM615813   
Gene and transcription
Genbank (Entrez)AB067518 AI039634 AI683595 AK001266 AK096032
RefSeq transcript (Entrez)NM_001190946 NM_019057
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)FAM193B
Cluster EST : UnigeneHs.484289 [ NCBI ]
CGAP (NCI)Hs.484289
Alternative Splicing GalleryENSG00000146067
Gene ExpressionFAM193B [ NCBI-GEO ]   FAM193B [ EBI - ARRAY_EXPRESS ]   FAM193B [ SEEK ]   FAM193B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM193B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54540
GTEX Portal (Tissue expression)FAM193B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PV7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PV7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PV7
Splice isoforms : SwissVarQ96PV7
PhosPhoSitePlusQ96PV7
Domains : Interpro (EBI)FAM193    FAM193_C    FAM193B   
Domain families : Pfam (Sanger)FAM193_C (PF15914)   
Domain families : Pfam (NCBI)pfam15914   
Conserved Domain (NCBI)FAM193B
DMDM Disease mutations54540
Blocks (Seattle)FAM193B
SuperfamilyQ96PV7
Human Protein AtlasENSG00000146067
Peptide AtlasQ96PV7
HPRD07671
IPIIPI00102530   IPI00900345   IPI00940356   IPI00967799   IPI00967263   IPI00965180   IPI00967541   IPI00968116   IPI00964908   IPI00966746   IPI00964089   IPI00965427   
Protein Interaction databases
DIP (DOE-UCLA)Q96PV7
IntAct (EBI)Q96PV7
FunCoupENSG00000146067
BioGRIDFAM193B
STRING (EMBL)FAM193B
ZODIACFAM193B
Ontologies - Pathways
QuickGOQ96PV7
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  
NDEx NetworkFAM193B
Atlas of Cancer Signalling NetworkFAM193B
Wikipedia pathwaysFAM193B
Orthology - Evolution
OrthoDB54540
GeneTree (enSembl)ENSG00000146067
Phylogenetic Trees/Animal Genes : TreeFamFAM193B
HOVERGENQ96PV7
HOGENOMQ96PV7
Homologs : HomoloGeneFAM193B
Homology/Alignments : Family Browser (UCSC)FAM193B
Gene fusions - Rearrangements
Fusion : MitelmanCOL23A1/FAM193B [5q35.3/5q35.3]  [t(5;5)(q35;q35)]  
Fusion: TCGACOL23A1 5q35.3 FAM193B 5q35.3 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM193B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM193B
dbVarFAM193B
ClinVarFAM193B
1000_GenomesFAM193B 
Exome Variant ServerFAM193B
ExAC (Exome Aggregation Consortium)FAM193B (select the gene name)
Genetic variants : HAPMAP54540
Genomic Variants (DGV)FAM193B [DGVbeta]
DECIPHER (Syndromes)5:176946790-176981586  ENSG00000146067
CONAN: Copy Number AnalysisFAM193B 
Mutations
ICGC Data PortalFAM193B 
TCGA Data PortalFAM193B 
Broad Tumor PortalFAM193B
OASIS PortalFAM193B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM193B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM193B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM193B
DgiDB (Drug Gene Interaction Database)FAM193B
DoCM (Curated mutations)FAM193B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM193B (select a term)
intoGenFAM193B
Cancer3DFAM193B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615813   
Orphanet
MedgenFAM193B
Genetic Testing Registry FAM193B
NextProtQ96PV7 [Medical]
TSGene54540
GENETestsFAM193B
Huge Navigator FAM193B [HugePedia]
snp3D : Map Gene to Disease54540
BioCentury BCIQFAM193B
ClinGenFAM193B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54540
Chemical/Pharm GKB GenePA165660336
Clinical trialFAM193B
Miscellaneous
canSAR (ICR)FAM193B (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM193B
EVEXFAM193B
GoPubMedFAM193B
iHOPFAM193B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:00:44 CEST 2017

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