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PHF12 (PHD finger protein 12)

Identity

Alias_symbol (synonym)PF1
KIAA1523
Other alias
HGNC (Hugo) PHF12
LocusID (NCBI) 57649
Atlas_Id 71881
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 28905253 and ends at 28951490 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)
FAM222B (17q11.2) / PHF12 (17q11.2)PHF12 (17q11.2) / MYO18A (17q11.2)PHF12 (17q11.2) / PHF12 (17q11.2)
PHF12 (17q11.2) / PLXDC1 (17q12)PHF12 (17q11.2) / RBMS1 (2q24.2)PHF12 (17q11.2) / SEZ6 (17q11.2)
PHF12 (17q11.2) / TMEM97 (17q11.2)RSF1 (11q14.1) / PHF12 (17q11.2)PHF12 TMEM97
PHF12 PLXDC1PHF12 SEZ6RSF1 PHF12
C17orf63 PHF12

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(11;17)(q14;q11) RSF1/PHF12
t(17;17)(q11;q11) FAM222B/PHF12
t(17;17)(q11;q11) PHF12/TMEM97
t(17;17)(q11;q11) PHF12/SEZ6
t(17;17)(q11;q12) PHF12/PLXDC1


External links

Nomenclature
HGNC (Hugo)PHF12   20816
Cards
Entrez_Gene (NCBI)PHF12  57649  PHD finger protein 12
AliasesPF1
GeneCards (Weizmann)PHF12
Ensembl hg19 (Hinxton)ENSG00000109118 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109118 [Gene_View]  ENSG00000109118 [Sequence]  chr17:28905253-28951490 [Contig_View]  PHF12 [Vega]
ICGC DataPortalENSG00000109118
TCGA cBioPortalPHF12
AceView (NCBI)PHF12
Genatlas (Paris)PHF12
WikiGenes57649
SOURCE (Princeton)PHF12
Genetics Home Reference (NIH)PHF12
Genomic and cartography
GoldenPath hg38 (UCSC)PHF12  -     chr17:28905253-28951490 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHF12  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblPHF12 - 17q11.2 [CytoView hg19]  PHF12 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIPHF12 [Mapview hg19]  PHF12 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB040956 AK024290 AK091441 AK160370 AK291420
RefSeq transcript (Entrez)NM_001033561 NM_001290131 NM_020889
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHF12
Cluster EST : UnigeneHs.444173 [ NCBI ]
CGAP (NCI)Hs.444173
Alternative Splicing GalleryENSG00000109118
Gene ExpressionPHF12 [ NCBI-GEO ]   PHF12 [ EBI - ARRAY_EXPRESS ]   PHF12 [ SEEK ]   PHF12 [ MEM ]
Gene Expression Viewer (FireBrowse)PHF12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57649
GTEX Portal (Tissue expression)PHF12
Human Protein AtlasENSG00000109118-PHF12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QT6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QT6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QT6
Splice isoforms : SwissVarQ96QT6
PhosPhoSitePlusQ96QT6
Domaine pattern : Prosite (Expaxy)FHA_DOMAIN (PS50006)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)FHA_dom    PHF12_MRG-bd    SMAD_FHA_domain    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)PHD (PF00628)    PHF12_MRG_bd (PF16737)   
Domain families : Pfam (NCBI)pfam00628    pfam16737   
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)PHF12
DMDM Disease mutations57649
Blocks (Seattle)PHF12
PDB (SRS)2L9S    2LKM   
PDB (PDBSum)2L9S    2LKM   
PDB (IMB)2L9S    2LKM   
PDB (RSDB)2L9S    2LKM   
Structural Biology KnowledgeBase2L9S    2LKM   
SCOP (Structural Classification of Proteins)2L9S    2LKM   
CATH (Classification of proteins structures)2L9S    2LKM   
SuperfamilyQ96QT6
Human Protein Atlas [tissue]ENSG00000109118-PHF12 [tissue]
Peptide AtlasQ96QT6
HPRD15123
IPIIPI00292750   IPI00290033   IPI00607816   IPI00441976   IPI00952567   
Protein Interaction databases
DIP (DOE-UCLA)Q96QT6
IntAct (EBI)Q96QT6
FunCoupENSG00000109118
BioGRIDPHF12
STRING (EMBL)PHF12
ZODIACPHF12
Ontologies - Pathways
QuickGOQ96QT6
Ontology : AmiGO###############################################################################################################################################################################################################################################################                              
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                              
NDEx NetworkPHF12
Atlas of Cancer Signalling NetworkPHF12
Wikipedia pathwaysPHF12
Orthology - Evolution
OrthoDB57649
GeneTree (enSembl)ENSG00000109118
Phylogenetic Trees/Animal Genes : TreeFamPHF12
HOVERGENQ96QT6
HOGENOMQ96QT6
Homologs : HomoloGenePHF12
Homology/Alignments : Family Browser (UCSC)PHF12
Gene fusions - Rearrangements
Fusion PortalPHF12 TMEM97
Fusion PortalPHF12 PLXDC1
Fusion PortalPHF12 SEZ6
Fusion PortalRSF1 PHF12
Fusion PortalC17orf63 PHF12
Fusion : QuiverPHF12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHF12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHF12
dbVarPHF12
ClinVarPHF12
1000_GenomesPHF12 
Exome Variant ServerPHF12
ExAC (Exome Aggregation Consortium)ENSG00000109118
GNOMAD BrowserENSG00000109118
Varsome BrowserPHF12
Genetic variants : HAPMAP57649
Genomic Variants (DGV)PHF12 [DGVbeta]
DECIPHERPHF12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHF12 
Mutations
ICGC Data PortalPHF12 
TCGA Data PortalPHF12 
Broad Tumor PortalPHF12
OASIS PortalPHF12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHF12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHF12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHF12
DgiDB (Drug Gene Interaction Database)PHF12
DoCM (Curated mutations)PHF12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHF12 (select a term)
intoGenPHF12
Cancer3DPHF12(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPHF12
MedgenPHF12
Genetic Testing Registry PHF12
NextProtQ96QT6 [Medical]
TSGene57649
GENETestsPHF12
Target ValidationPHF12
Huge Navigator PHF12 [HugePedia]
snp3D : Map Gene to Disease57649
BioCentury BCIQPHF12
ClinGenPHF12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57649
Chemical/Pharm GKB GenePA134954478
Clinical trialPHF12
Miscellaneous
canSAR (ICR)PHF12 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHF12
EVEXPHF12
GoPubMedPHF12
iHOPPHF12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 30 14:23:47 CEST 2018

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