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FAM172A (family with sequence similarity 172 member A)

Identity

Alias_namesC5orf21
chromosome 5 open reading frame 21
family with sequence similarity 172, member A
Alias_symbol (synonym)DKFZP564D172
Other alias
HGNC (Hugo) FAM172A
LocusID (NCBI) 83989
Atlas_Id 53871
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 93617725 and ends at 94111699 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAST (5q15) / FAM172A (5q15)CDC73 (1q31.2) / FAM172A (5q15)FAM172A (5q15) / CDC73 (1q31.2)
FAM172A (5q15) / DFNA5 (7p15.3)FAM172A (5q15) / EFNA5 (5q21.3)FAM172A (5q15) / ERAP2 (5q15)
FAM172A (5q15) / FHIT (3p14.2)FAM172A (5q15) / KIAA0825 (5q15)FAM172A (5q15) / MME (3q25.2)
FAM172A (5q15) / XRN2 (20p11.23)SETX (9q34.13) / FAM172A (5q15)ZNF608 (5q23.2) / FAM172A (5q15)
CAST 5q15 / FAM172A 5q15CDC73 1q31.2 / FAM172A 5q15FAM172A 5q15 / EFNA5 5q21.3
FAM172A 5q15 / ERAP2 5q15FAM172A 5q15 / FHIT 3p14.2FAM172A 5q15 / KIAA0825 5q15

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)FAM172A   25365
Cards
Entrez_Gene (NCBI)FAM172A  83989  family with sequence similarity 172 member A
AliasesC5orf21
GeneCards (Weizmann)FAM172A
Ensembl hg19 (Hinxton)ENSG00000113391 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113391 [Gene_View]  chr5:93617725-94111699 [Contig_View]  FAM172A [Vega]
ICGC DataPortalENSG00000113391
TCGA cBioPortalFAM172A
AceView (NCBI)FAM172A
Genatlas (Paris)FAM172A
WikiGenes83989
SOURCE (Princeton)FAM172A
Genetics Home Reference (NIH)FAM172A
Genomic and cartography
GoldenPath hg38 (UCSC)FAM172A  -     chr5:93617725-94111699 -  5q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM172A  -     5q15   [Description]    (hg19-Feb_2009)
EnsemblFAM172A - 5q15 [CytoView hg19]  FAM172A - 5q15 [CytoView hg38]
Mapping of homologs : NCBIFAM172A [Mapview hg19]  FAM172A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF070617 AK295127 AK295879 AK296683 AK296986
RefSeq transcript (Entrez)NM_001163417 NM_001163418 NM_032042
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM172A
Cluster EST : UnigeneHs.600086 [ NCBI ]
CGAP (NCI)Hs.600086
Alternative Splicing GalleryENSG00000113391
Gene ExpressionFAM172A [ NCBI-GEO ]   FAM172A [ EBI - ARRAY_EXPRESS ]   FAM172A [ SEEK ]   FAM172A [ MEM ]
Gene Expression Viewer (FireBrowse)FAM172A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83989
GTEX Portal (Tissue expression)FAM172A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUF8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUF8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUF8
Splice isoforms : SwissVarQ8WUF8
PhosPhoSitePlusQ8WUF8
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)AB_hydrolase    Arb2_domain   
Domain families : Pfam (Sanger)Arb2 (PF09757)   
Domain families : Pfam (NCBI)pfam09757   
Conserved Domain (NCBI)FAM172A
DMDM Disease mutations83989
Blocks (Seattle)FAM172A
SuperfamilyQ8WUF8
Human Protein AtlasENSG00000113391
Peptide AtlasQ8WUF8
HPRD13210
IPIIPI00102909   IPI00885201   IPI00909391   IPI00943654   IPI00908481   IPI00908523   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUF8
IntAct (EBI)Q8WUF8
FunCoupENSG00000113391
BioGRIDFAM172A
STRING (EMBL)FAM172A
ZODIACFAM172A
Ontologies - Pathways
QuickGOQ8WUF8
Ontology : AmiGOextracellular region  endoplasmic reticulum  
Ontology : EGO-EBIextracellular region  endoplasmic reticulum  
NDEx NetworkFAM172A
Atlas of Cancer Signalling NetworkFAM172A
Wikipedia pathwaysFAM172A
Orthology - Evolution
OrthoDB83989
GeneTree (enSembl)ENSG00000113391
Phylogenetic Trees/Animal Genes : TreeFamFAM172A
HOVERGENQ8WUF8
HOGENOMQ8WUF8
Homologs : HomoloGeneFAM172A
Homology/Alignments : Family Browser (UCSC)FAM172A
Gene fusions - Rearrangements
Fusion : MitelmanCDC73/FAM172A [1q31.2/5q15]  [t(1;5)(q31;q15)]  
Fusion : MitelmanFAM172A/CDC73 [5q15/1q31.2]  [t(1;5)(q31;q15)]  
Fusion : MitelmanFAM172A/EFNA5 [5q15/5q21.3]  [t(5;5)(q15;q21)]  
Fusion : MitelmanFAM172A/FHIT [5q15/3p14.2]  [t(3;5)(p14;q15)]  
Fusion: TCGACAST 5q15 FAM172A 5q15 BRCA
Fusion: TCGACDC73 1q31.2 FAM172A 5q15 LAML
Fusion: TCGAFAM172A 5q15 EFNA5 5q21.3 BRCA
Fusion: TCGAFAM172A 5q15 ERAP2 5q15 KIRC
Fusion: TCGAFAM172A 5q15 FHIT 3p14.2 KIRC
Fusion: TCGAFAM172A 5q15 KIAA0825 5q15 BRCA LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM172A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM172A
dbVarFAM172A
ClinVarFAM172A
1000_GenomesFAM172A 
Exome Variant ServerFAM172A
ExAC (Exome Aggregation Consortium)FAM172A (select the gene name)
Genetic variants : HAPMAP83989
Genomic Variants (DGV)FAM172A [DGVbeta]
DECIPHERFAM172A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM172A 
Mutations
ICGC Data PortalFAM172A 
TCGA Data PortalFAM172A 
Broad Tumor PortalFAM172A
OASIS PortalFAM172A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM172A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM172A
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 FAM172A
DgiDB (Drug Gene Interaction Database)FAM172A
DoCM (Curated mutations)FAM172A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM172A (select a term)
intoGenFAM172A
Cancer3DFAM172A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenFAM172A
Genetic Testing Registry FAM172A
NextProtQ8WUF8 [Medical]
TSGene83989
GENETestsFAM172A
Target ValidationFAM172A
Huge Navigator FAM172A [HugePedia]
snp3D : Map Gene to Disease83989
BioCentury BCIQFAM172A
ClinGenFAM172A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83989
Chemical/Pharm GKB GenePA162387241
Clinical trialFAM172A
Miscellaneous
canSAR (ICR)FAM172A (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM172A
EVEXFAM172A
GoPubMedFAM172A
iHOPFAM172A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:33:17 CEST 2017

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