Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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 27232271 and ends at 27278508 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


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]  chr17:27232271-27278508 [Contig_View]  PHF12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109118 [Gene_View]  chr17:27232271-27278508 [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 hg19 (UCSC)PHF12  -     chr17:27232271-27278508 -  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHF12  -     17q11.2   [Description]    (hg38-Dec_2013)
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)NC_000017 NC_018928 NT_010783 NW_004929407
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57649
GTEX Portal (Tissue expression)PHF12
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    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)   
Domain families : Pfam (NCBI)pfam00628   
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 AtlasENSG00000109118
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 : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  transcription corepressor binding  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  zinc ion binding  Sin3 complex  transcriptional repressor complex  phosphatidylinositol binding  negative regulation of transcription, DNA-templated  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  transcription corepressor binding  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  zinc ion binding  Sin3 complex  transcriptional repressor complex  phosphatidylinositol binding  negative regulation of transcription, DNA-templated  
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: TCGAPHF12 TMEM97
Fusion: TCGAPHF12 PLXDC1
Fusion: TCGAPHF12 SEZ6
Fusion: TCGARSF1 PHF12
Fusion: TCGAC17orf63 PHF12
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)PHF12 (select the gene name)
Genetic variants : HAPMAP57649
Genomic Variants (DGV)PHF12 [DGVbeta]
DECIPHER (Syndromes)17:27232271-27278508  ENSG00000109118
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPHF12
Genetic Testing Registry PHF12
NextProtQ96QT6 [Medical]
TSGene57649
GENETestsPHF12
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
PubMed22 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:38:31 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.