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FAM117B (family with sequence similarity 117 member B)

Identity

Alias_namesALS2CR13
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13
family with sequence similarity 117, member B
Alias_symbol (synonym)FLJ38771
Other alias
HGNC (Hugo) FAM117B
LocusID (NCBI) 150864
Atlas_Id 54298
Location 2q33.2  [Link to chromosome band 2q33]
Location_base_pair Starts at 202635178 and ends at 202769757 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)
FAM117B (2q33.2) / ATIC (2q35)FAM117B (2q33.2) / BMPR2 (2q33.1)FAM117B (2q33.2) / TCEANC2 (1p32.3)
FAM117B 2q33.2 / ATIC 2q35

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)FAM117B   14440
Cards
Entrez_Gene (NCBI)FAM117B  150864  family with sequence similarity 117 member B
AliasesALS2CR13
GeneCards (Weizmann)FAM117B
Ensembl hg19 (Hinxton)ENSG00000138439 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138439 [Gene_View]  chr2:202635178-202769757 [Contig_View]  FAM117B [Vega]
ICGC DataPortalENSG00000138439
TCGA cBioPortalFAM117B
AceView (NCBI)FAM117B
Genatlas (Paris)FAM117B
WikiGenes150864
SOURCE (Princeton)FAM117B
Genetics Home Reference (NIH)FAM117B
Genomic and cartography
GoldenPath hg38 (UCSC)FAM117B  -     chr2:202635178-202769757 +  2q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM117B  -     2q33.2   [Description]    (hg19-Feb_2009)
EnsemblFAM117B - 2q33.2 [CytoView hg19]  FAM117B - 2q33.2 [CytoView hg38]
Mapping of homologs : NCBIFAM117B [Mapview hg19]  FAM117B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB053315 AI523857 AK025007 AK096090 BC021689
RefSeq transcript (Entrez)NM_173511
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM117B
Cluster EST : UnigeneHs.471130 [ NCBI ]
CGAP (NCI)Hs.471130
Alternative Splicing GalleryENSG00000138439
Gene ExpressionFAM117B [ NCBI-GEO ]   FAM117B [ EBI - ARRAY_EXPRESS ]   FAM117B [ SEEK ]   FAM117B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM117B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150864
GTEX Portal (Tissue expression)FAM117B
Human Protein AtlasENSG00000138439-FAM117B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P1L5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P1L5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P1L5
Splice isoforms : SwissVarQ6P1L5
PhosPhoSitePlusQ6P1L5
Domains : Interpro (EBI)FAM117B    Glcci1/FAM117   
Domain families : Pfam (Sanger)FAM117 (PF15388)   
Domain families : Pfam (NCBI)pfam15388   
Conserved Domain (NCBI)FAM117B
DMDM Disease mutations150864
Blocks (Seattle)FAM117B
SuperfamilyQ6P1L5
Human Protein Atlas [tissue]ENSG00000138439-FAM117B [tissue]
Peptide AtlasQ6P1L5
HPRD12445
IPIIPI00298373   IPI00044665   IPI00873812   
Protein Interaction databases
DIP (DOE-UCLA)Q6P1L5
IntAct (EBI)Q6P1L5
FunCoupENSG00000138439
BioGRIDFAM117B
STRING (EMBL)FAM117B
ZODIACFAM117B
Ontologies - Pathways
QuickGOQ6P1L5
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkFAM117B
Atlas of Cancer Signalling NetworkFAM117B
Wikipedia pathwaysFAM117B
Orthology - Evolution
OrthoDB150864
GeneTree (enSembl)ENSG00000138439
Phylogenetic Trees/Animal Genes : TreeFamFAM117B
HOVERGENQ6P1L5
HOGENOMQ6P1L5
Homologs : HomoloGeneFAM117B
Homology/Alignments : Family Browser (UCSC)FAM117B
Gene fusions - Rearrangements
Fusion : MitelmanFAM117B/ATIC [2q33.2/2q35]  
Fusion : MitelmanFAM117B/BMPR2 [2q33.2/2q33.1]  [t(2;2)(q33;q33)]  
Fusion: TCGA_MDACCFAM117B 2q33.2 ATIC 2q35 BRCA
Tumor Fusion PortalFAM117B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM117B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM117B
dbVarFAM117B
ClinVarFAM117B
1000_GenomesFAM117B 
Exome Variant ServerFAM117B
ExAC (Exome Aggregation Consortium)ENSG00000138439
GNOMAD BrowserENSG00000138439
Genetic variants : HAPMAP150864
Genomic Variants (DGV)FAM117B [DGVbeta]
DECIPHERFAM117B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM117B 
Mutations
ICGC Data PortalFAM117B 
TCGA Data PortalFAM117B 
Broad Tumor PortalFAM117B
OASIS PortalFAM117B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM117B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM117B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM117B
DgiDB (Drug Gene Interaction Database)FAM117B
DoCM (Curated mutations)FAM117B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM117B (select a term)
intoGenFAM117B
Cancer3DFAM117B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETFAM117B
MedgenFAM117B
Genetic Testing Registry FAM117B
NextProtQ6P1L5 [Medical]
TSGene150864
GENETestsFAM117B
Target ValidationFAM117B
Huge Navigator FAM117B [HugePedia]
snp3D : Map Gene to Disease150864
BioCentury BCIQFAM117B
ClinGenFAM117B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD150864
Chemical/Pharm GKB GenePA164719514
Clinical trialFAM117B
Miscellaneous
canSAR (ICR)FAM117B (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM117B
EVEXFAM117B
GoPubMedFAM117B
iHOPFAM117B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:12:38 CET 2017

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