Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ZCCHC8 (zinc finger CCHC-type containing 8)

Identity

Alias_symbol (synonym)DKFZp434E2220
Other aliasPFBMFT5
HGNC (Hugo) ZCCHC8
LocusID (NCBI) 55596
Atlas_Id 55066
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 122471600 and ends at 122500932 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)
PTPRT (20q12) / ZCCHC8 (12q24.31)ZCCHC8 (12q24.31) / ROS1 (6q22.1)ZCCHC8 (12q24.31) / RSRC2 (12q24.31)
ZCCHC8 ROS1ZCCHC8 12q24.31 / RSRC2 12q24.31

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) [ 1 ]
  t(12;12)(q24;q24) ZCCHC8/RSRC2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;12)(q22;q24) ZCCHC8/ROS1
t(6;12)(q22;q24) ZCCHC8/ROS1
ZCCHC8/RSRC2 (12q24)

External links

Nomenclature
HGNC (Hugo)ZCCHC8   25265
Cards
Entrez_Gene (NCBI)ZCCHC8  55596  zinc finger CCHC-type containing 8
AliasesPFBMFT5
GeneCards (Weizmann)ZCCHC8
Ensembl hg19 (Hinxton)ENSG00000033030 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000033030 [Gene_View]  ENSG00000033030 [Sequence]  chr12:122471600-122500932 [Contig_View]  ZCCHC8 [Vega]
ICGC DataPortalENSG00000033030
TCGA cBioPortalZCCHC8
AceView (NCBI)ZCCHC8
Genatlas (Paris)ZCCHC8
WikiGenes55596
SOURCE (Princeton)ZCCHC8
Genetics Home Reference (NIH)ZCCHC8
Genomic and cartography
GoldenPath hg38 (UCSC)ZCCHC8  -     chr12:122471600-122500932 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZCCHC8  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathZCCHC8 - 12q24.31 [CytoView hg19]  ZCCHC8 - 12q24.31 [CytoView hg38]
Genome Data Viewer NCBIZCCHC8 [Mapview hg19]  
OMIM616381   618674   
Gene and transcription
Genbank (Entrez)AA447641 AK026831 AK027702 AK074638 AK291174
RefSeq transcript (Entrez)NM_001350935 NM_001350936 NM_001350937 NM_001350938 NM_017612
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZCCHC8
Alternative Splicing GalleryENSG00000033030
Gene ExpressionZCCHC8 [ NCBI-GEO ]   ZCCHC8 [ EBI - ARRAY_EXPRESS ]   ZCCHC8 [ SEEK ]   ZCCHC8 [ MEM ]
Gene Expression Viewer (FireBrowse)ZCCHC8 [ Firebrowse - Broad ]
GenevisibleExpression of ZCCHC8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55596
GTEX Portal (Tissue expression)ZCCHC8
Human Protein AtlasENSG00000033030-ZCCHC8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NZY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NZY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NZY4
Splice isoforms : SwissVarQ6NZY4
PhosPhoSitePlusQ6NZY4
Domaine pattern : Prosite (Expaxy)ZF_CCHC (PS50158)   
Domains : Interpro (EBI)PSP_pro-rich    Znf_CCHC   
Domain families : Pfam (Sanger)PSP (PF04046)    zf-CCHC (PF00098)   
Domain families : Pfam (NCBI)pfam04046    pfam00098   
Domain families : Smart (EMBL)PSP (SM00581)  ZnF_C2HC (SM00343)  
Conserved Domain (NCBI)ZCCHC8
DMDM Disease mutations55596
PDB (RSDB)5LXR    5LXY    6C90   
PDB Europe5LXR    5LXY    6C90   
PDB (PDBSum)5LXR    5LXY    6C90   
PDB (IMB)5LXR    5LXY    6C90   
Structural Biology KnowledgeBase5LXR    5LXY    6C90   
SCOP (Structural Classification of Proteins)5LXR    5LXY    6C90   
CATH (Classification of proteins structures)5LXR    5LXY    6C90   
SuperfamilyQ6NZY4
Human Protein Atlas [tissue]ENSG00000033030-ZCCHC8 [tissue]
Peptide AtlasQ6NZY4
HPRD11698
IPIIPI00556594   IPI00166422   IPI01014790   IPI01013833   IPI01015185   IPI01012888   
Protein Interaction databases
DIP (DOE-UCLA)Q6NZY4
IntAct (EBI)Q6NZY4
FunCoupENSG00000033030
BioGRIDZCCHC8
STRING (EMBL)ZCCHC8
ZODIACZCCHC8
Ontologies - Pathways
QuickGOQ6NZY4
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  zinc ion binding  snRNA catabolic process  nuclear body  TRAMP complex  ncRNA processing  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  zinc ion binding  snRNA catabolic process  nuclear body  TRAMP complex  ncRNA processing  catalytic step 2 spliceosome  
NDEx NetworkZCCHC8
Atlas of Cancer Signalling NetworkZCCHC8
Wikipedia pathwaysZCCHC8
Orthology - Evolution
OrthoDB55596
GeneTree (enSembl)ENSG00000033030
Phylogenetic Trees/Animal Genes : TreeFamZCCHC8
HOGENOMQ6NZY4
Homologs : HomoloGeneZCCHC8
Homology/Alignments : Family Browser (UCSC)ZCCHC8
Gene fusions - Rearrangements
Fusion : MitelmanZCCHC8/RSRC2 [12q24.31/12q24.31]  
Fusion PortalZCCHC8 12q24.31 RSRC2 12q24.31 BLCA BRCA HNSC KIRC LGG
Fusion : QuiverZCCHC8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZCCHC8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZCCHC8
dbVarZCCHC8
ClinVarZCCHC8
1000_GenomesZCCHC8 
Exome Variant ServerZCCHC8
GNOMAD BrowserENSG00000033030
Varsome BrowserZCCHC8
Genetic variants : HAPMAP55596
Genomic Variants (DGV)ZCCHC8 [DGVbeta]
DECIPHERZCCHC8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZCCHC8 
Mutations
ICGC Data PortalZCCHC8 
TCGA Data PortalZCCHC8 
Broad Tumor PortalZCCHC8
OASIS PortalZCCHC8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZCCHC8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DZCCHC8
Mutations and Diseases : HGMDZCCHC8
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
BioMutaselect ZCCHC8
DgiDB (Drug Gene Interaction Database)ZCCHC8
DoCM (Curated mutations)ZCCHC8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZCCHC8 (select a term)
intoGenZCCHC8
Cancer3DZCCHC8 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616381    618674   
Orphanet
DisGeNETZCCHC8
MedgenZCCHC8
Genetic Testing Registry ZCCHC8
NextProtQ6NZY4 [Medical]
TSGene55596
GENETestsZCCHC8
Open Targets GeneticsENSG00000033030  [validation]
snp3D : Map Gene to Disease55596
BioCentury BCIQZCCHC8
ClinGenZCCHC8
Clinical trials, drugs, therapy
Protein Interactions : CTD55596
Pharm GKB GenePA134889410
Clinical trialZCCHC8
Miscellaneous
canSAR (ICR)ZCCHC8 (select the gene name)
HarmonizomeZCCHC8
DataMed IndexZCCHC8
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZCCHC8
EVEXZCCHC8
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 : Sat Jul 11 20:19:23 CEST 2020
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