PATZ1 (POZ/BTB and AT hook containing zinc finger 1)

1. Identity

Alias_names
General Information
zinc finger protein 278
POZ (BTB) and AT hook containing zinc finger 1
Alias_symbol (synonym)MAZR
dJ400N23
ZBTB19
ZSG
RIAZ
PATZ
Other alias
HGNC (Hugo) PATZ1
LocusID (NCBI) 23598
Atlas_Id 435
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 31325804 and ends at 31346263 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)
EWSR1 (22q12.2) / PATZ1 (22q12.2)HN1 (17q25.1) / PATZ1 (22q12.2)PATZ1 (22q12.2) / EWSR1 (22q12.2)
PATZ1 (22q12.2) / LRP8 (1p32.3)PATZ1 (22q12.2) / PKIB (6q22.31)PATZ1 (22q12.2) / WDR25 (14q32.2)
THOC5 (22q12.2) / PATZ1 (22q12.2)EWSR1 PATZ1PATZ1 22q12.2 / PKIB 6q22.31

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft Tissues: Ewing's tumors/Primitive neurectodermal tumors (PNET)
Soft tissue tumors: an overview
t(6;22)(q22;q12) PATZ1/PKIB

3. External links

Nomenclature
HGNC (Hugo)PATZ1   13071
Cards
Entrez_Gene (NCBI)PATZ1  23598  POZ/BTB and AT hook containing zinc finger 1
AliasesMAZR; PATZ; RIAZ; ZBTB19; 
ZNF278; ZSG; dJ400N23
GeneCards (Weizmann)PATZ1
Ensembl hg19 (Hinxton)ENSG00000100105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100105 [Gene_View] &nbspENSG00000100105 [Sequence]  chr22:31325804-31346263 [Contig_View]  PATZ1 [Vega]
ICGC DataPortalENSG00000100105
TCGA cBioPortalPATZ1
AceView (NCBI)PATZ1
Genatlas (Paris)PATZ1
WikiGenes23598
SOURCE (Princeton)PATZ1
Genetics Home Reference (NIH)PATZ1
Genomic and cartography
GoldenPath hg38 (UCSC)PATZ1  -     chr22:31325804-31346263 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PATZ1  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblPATZ1 - 22q12.2 [CytoView hg19]  PATZ1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIPATZ1 [Mapview hg19]  PATZ1 [Mapview hg38]
OMIM605165   
Gene and transcription
Genbank (Entrez)AB208787 AF119256 AF242522 AF254082 AF254083
RefSeq transcript (Entrez)NM_014323 NM_032050 NM_032051 NM_032052
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PATZ1
Cluster EST : UnigeneHs.731398 [ NCBI ]
CGAP (NCI)Hs.731398
Alternative Splicing GalleryENSG00000100105
Gene ExpressionPATZ1 [ NCBI-GEO ]   PATZ1 [ EBI - ARRAY_EXPRESS ]   PATZ1 [ SEEK ]   PATZ1 [ MEM ]
Gene Expression Viewer (FireBrowse)PATZ1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)23598
GTEX Portal (Tissue expression)PATZ1
Human Protein AtlasENSG00000100105-PATZ1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBE1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBE1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBE1
Splice isoforms : SwissVarQ9HBE1
PhosPhoSitePlusQ9HBE1
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    HMGI_Y (PS00354)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ_dom    HMGI/Y_DNA-bd_CS    SKP1/BTB/POZ_sf    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)BTB (PF00651)   
Domain families : Pfam (NCBI)pfam00651   
Domain families : Smart (EMBL)BTB (SM00225)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)PATZ1
DMDM Disease mutations23598
Blocks (Seattle)PATZ1
PDB (RSDB)2EPP    2EPQ    2EPR    2EPS    2YT9   
PDB Europe2EPP    2EPQ    2EPR    2EPS    2YT9   
PDB (PDBSum)2EPP    2EPQ    2EPR    2EPS    2YT9   
PDB (IMB)2EPP    2EPQ    2EPR    2EPS    2YT9   
Structural Biology KnowledgeBase2EPP    2EPQ    2EPR    2EPS    2YT9   
SCOP (Structural Classification of Proteins)2EPP    2EPQ    2EPR    2EPS    2YT9   
CATH (Classification of proteins structures)2EPP    2EPQ    2EPR    2EPS    2YT9   
SuperfamilyQ9HBE1
Human Protein Atlas [tissue]ENSG00000100105-PATZ1 [tissue]
Peptide AtlasQ9HBE1
HPRD05522
IPIIPI00003801   IPI00395545   IPI00217078   IPI00034248   IPI00980172   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBE1
IntAct (EBI)Q9HBE1
FunCoupENSG00000100105
BioGRIDPATZ1
STRING (EMBL)PATZ1
ZODIACPATZ1
Ontologies - Pathways
QuickGOQ9HBE1
Ontology : AmiGORNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  spermatogenesis  male gonad development  T cell differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBIRNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  spermatogenesis  male gonad development  T cell differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkPATZ1
Atlas of Cancer Signalling NetworkPATZ1
Wikipedia pathwaysPATZ1
Orthology - Evolution
OrthoDB23598
GeneTree (enSembl)ENSG00000100105
Phylogenetic Trees/Animal Genes : TreeFamPATZ1
HOGENOMQ9HBE1
Homologs : HomoloGenePATZ1
Homology/Alignments : Family Browser (UCSC)PATZ1
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/PATZ1 [22q12.2/22q12.2] &nbsp[inv(22)(q12q12)]  
Fusion : MitelmanPATZ1/PKIB [22q12.2/6q22.31] &nbsp[t(6;22)(q22;q12)]  
Fusion PortalPATZ1 22q12.2 PKIB 6q22.31 BRCA
Fusion : QuiverPATZ1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPATZ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PATZ1
dbVarPATZ1
ClinVarPATZ1
1000_GenomesPATZ1 
Exome Variant ServerPATZ1
ExAC (Exome Aggregation Consortium)ENSG00000100105
GNOMAD BrowserENSG00000100105
Varsome BrowserPATZ1
Genetic variants : HAPMAP23598
Genomic Variants (DGV)PATZ1 [DGVbeta]
DECIPHERPATZ1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPATZ1 
Mutations
ICGC Data PortalPATZ1 
TCGA Data PortalPATZ1 
Broad Tumor PortalPATZ1
OASIS PortalPATZ1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPATZ1 
Somatic Mutations in Cancer : COSMICPATZ1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPATZ1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PATZ1
DgiDB (Drug Gene Interaction Database)PATZ1
DoCM (Curated mutations)PATZ1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PATZ1 (select a term)
intoGenPATZ1
Cancer3DPATZ1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605165   
Orphanet
DisGeNETPATZ1
MedgenPATZ1
Genetic Testing Registry PATZ1
NextProtQ9HBE1 [Medical]
TSGene23598
GENETestsPATZ1
Target ValidationPATZ1
Huge Navigator PATZ1 [HugePedia]
snp3D : Map Gene to Disease23598
BioCentury BCIQPATZ1
ClinGenPATZ1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23598
Chemical/Pharm GKB GenePA162398806
Clinical trialPATZ1
Miscellaneous
canSAR (ICR)PATZ1 (select the gene name)
DataMed IndexPATZ1
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePATZ1
EVEXPATZ1
GoPubMedPATZ1
iHOPPATZ1
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 : Thu Jan 17 18:29:44 CET 2019

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