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FAM172A (family with sequence similarity 172 member A)

Identity

Alias (NCBI)C5orf21
Toupee
HGNC (Hugo) FAM172A
HGNC Alias symbDKFZP564D172
Toupee
HGNC Previous nameC5orf21
HGNC Previous namechromosome 5 open reading frame 21
 family with sequence similarity 172, member A
LocusID (NCBI) 83989
Atlas_Id 53871
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 93617725 and ends at 94111663 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;5)(q31;q15) CDC73::FAM172A
t(1;5)(q31;q15) FAM172A::CDC73


External links

 

Nomenclature
HGNC (Hugo)FAM172A   25365
Cards
Entrez_Gene (NCBI)FAM172A    family with sequence similarity 172 member A
AliasesC5orf21; Toupee
GeneCards (Weizmann)FAM172A
Ensembl hg19 (Hinxton)ENSG00000113391 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113391 [Gene_View]  ENSG00000113391 [Sequence]  chr5:93617725-94111663 [Contig_View]  FAM172A [Vega]
ICGC DataPortalENSG00000113391
TCGA cBioPortalFAM172A
AceView (NCBI)FAM172A
Genatlas (Paris)FAM172A
SOURCE (Princeton)FAM172A
Genetics Home Reference (NIH)FAM172A
Genomic and cartography
GoldenPath hg38 (UCSC)FAM172A  -     chr5:93617725-94111663 -  5q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM172A  -     5q15   [Description]    (hg19-Feb_2009)
GoldenPathFAM172A - 5q15 [CytoView hg19]  FAM172A - 5q15 [CytoView hg38]
ImmunoBaseENSG00000113391
Genome Data Viewer NCBIFAM172A [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF070617 AK295127 AK295879 AK296683 AK296986
RefSeq transcript (Entrez)NM_001163417 NM_001163418 NM_032042
Consensus coding sequences : CCDS (NCBI)FAM172A
Gene ExpressionFAM172A [ NCBI-GEO ]   FAM172A [ EBI - ARRAY_EXPRESS ]   FAM172A [ SEEK ]   FAM172A [ MEM ]
Gene Expression Viewer (FireBrowse)FAM172A [ Firebrowse - Broad ]
GenevisibleExpression of FAM172A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83989
GTEX Portal (Tissue expression)FAM172A
Human Protein AtlasENSG00000113391-FAM172A [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8WUF8
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)AB_hydrolase    FAM172A   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)FAM172A
SuperfamilyQ8WUF8
AlphaFold pdb e-kbQ8WUF8   
Human Protein Atlas [tissue]ENSG00000113391-FAM172A [tissue]
HPRD13210
Protein Interaction databases
DIP (DOE-UCLA)Q8WUF8
IntAct (EBI)Q8WUF8
BioGRIDFAM172A
STRING (EMBL)FAM172A
ZODIACFAM172A
Ontologies - Pathways
QuickGOQ8WUF8
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  protein binding  nucleus  nucleus  endoplasmic reticulum  mRNA processing  RNA splicing  neural crest cell development  heterochromatin assembly by small RNA  siRNA binding  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  protein binding  nucleus  nucleus  endoplasmic reticulum  mRNA processing  RNA splicing  neural crest cell development  heterochromatin assembly by small RNA  siRNA binding  
NDEx NetworkFAM172A
Atlas of Cancer Signalling NetworkFAM172A
Wikipedia pathwaysFAM172A
Orthology - Evolution
OrthoDB83989
GeneTree (enSembl)ENSG00000113391
Phylogenetic Trees/Animal Genes : TreeFamFAM172A
Homologs : HomoloGeneFAM172A
Homology/Alignments : Family Browser (UCSC)FAM172A
Gene fusions - Rearrangements
Fusion : MitelmanCDC73::FAM172A [1q31.2/5q15]  
Fusion : MitelmanFAM172A::CDC73 [5q15/1q31.2]  
Fusion : MitelmanFAM172A::EFNA5 [5q15/5q21.3]  
Fusion : MitelmanFAM172A::FHIT [5q15/3p14.2]  
Fusion : QuiverFAM172A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM172A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM172A
dbVarFAM172A
ClinVarFAM172A
MonarchFAM172A
1000_GenomesFAM172A 
Exome Variant ServerFAM172A
GNOMAD BrowserENSG00000113391
Varsome BrowserFAM172A
ACMGFAM172A variants
VarityQ8WUF8
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]  
Somatic Mutations in Cancer : COSMIC3DFAM172A
Mutations and Diseases : HGMDFAM172A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFAM172A
DgiDB (Drug Gene Interaction Database)FAM172A
DoCM (Curated mutations)FAM172A
CIViC (Clinical Interpretations of Variants in Cancer)FAM172A
Cancer3DFAM172A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETFAM172A
MedgenFAM172A
Genetic Testing Registry FAM172A
NextProtQ8WUF8 [Medical]
GENETestsFAM172A
Target ValidationFAM172A
Huge Navigator FAM172A [HugePedia]
ClinGenFAM172A
Clinical trials, drugs, therapy
MyCancerGenomeFAM172A
Protein Interactions : CTDFAM172A
Pharm GKB GenePA162387241
PharosQ8WUF8
Clinical trialFAM172A
Miscellaneous
canSAR (ICR)FAM172A
HarmonizomeFAM172A
ARCHS4FAM172A
DataMed IndexFAM172A
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFAM172A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:24:02 CET 2022

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