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ZNF248 (zinc finger protein 248)

Identity

Alias_symbol (synonym)bA162G10.3
Other alias
HGNC (Hugo) ZNF248
LocusID (NCBI) 57209
Atlas_Id 76048
Location 10p11.21  [Link to chromosome band 10p11]
Location_base_pair Starts at 37828765 and ends at 37858084 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)
ZNF248 (10p11.1) / PCDH15 (10q21.1)ZNF248 (10p11.1) / TNS1 (2q35)

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)ZNF248   13041
Cards
Entrez_Gene (NCBI)ZNF248  57209  zinc finger protein 248
AliasesbA162G10.3
GeneCards (Weizmann)ZNF248
Ensembl hg19 (Hinxton)ENSG00000198105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198105 [Gene_View]  chr10:37828765-37858084 [Contig_View]  ZNF248 [Vega]
ICGC DataPortalENSG00000198105
TCGA cBioPortalZNF248
AceView (NCBI)ZNF248
Genatlas (Paris)ZNF248
WikiGenes57209
SOURCE (Princeton)ZNF248
Genetics Home Reference (NIH)ZNF248
Genomic and cartography
GoldenPath hg38 (UCSC)ZNF248  -     chr10:37828765-37858084 -  10p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZNF248  -     10p11.21   [Description]    (hg19-Feb_2009)
EnsemblZNF248 - 10p11.21 [CytoView hg19]  ZNF248 - 10p11.21 [CytoView hg38]
Mapping of homologs : NCBIZNF248 [Mapview hg19]  ZNF248 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA836603 AJ491695 AJ492196 AK125538 AK293936
RefSeq transcript (Entrez)NM_001267597 NM_001267605 NM_001267606 NM_001267607 NM_021045
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZNF248
Cluster EST : UnigeneHs.742118 [ NCBI ]
CGAP (NCI)Hs.742118
Alternative Splicing GalleryENSG00000198105
Gene ExpressionZNF248 [ NCBI-GEO ]   ZNF248 [ EBI - ARRAY_EXPRESS ]   ZNF248 [ SEEK ]   ZNF248 [ MEM ]
Gene Expression Viewer (FireBrowse)ZNF248 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57209
GTEX Portal (Tissue expression)ZNF248
Human Protein AtlasENSG00000198105-ZNF248 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDW4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDW4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDW4
Splice isoforms : SwissVarQ8NDW4
PhosPhoSitePlusQ8NDW4
Domaine pattern : Prosite (Expaxy)KRAB (PS50805)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)KRAB    Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)KRAB (PF01352)    zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam01352    pfam00096   
Domain families : Smart (EMBL)KRAB (SM00349)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZNF248
DMDM Disease mutations57209
Blocks (Seattle)ZNF248
SuperfamilyQ8NDW4
Human Protein Atlas [tissue]ENSG00000198105-ZNF248 [tissue]
Peptide AtlasQ8NDW4
HPRD15757
IPIIPI00176388   IPI00902828   IPI00647515   IPI00386095   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDW4
IntAct (EBI)Q8NDW4
FunCoupENSG00000198105
BioGRIDZNF248
STRING (EMBL)ZNF248
ZODIACZNF248
Ontologies - Pathways
QuickGOQ8NDW4
Ontology : AmiGODNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIDNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  metal ion binding  
NDEx NetworkZNF248
Atlas of Cancer Signalling NetworkZNF248
Wikipedia pathwaysZNF248
Orthology - Evolution
OrthoDB57209
GeneTree (enSembl)ENSG00000198105
Phylogenetic Trees/Animal Genes : TreeFamZNF248
HOVERGENQ8NDW4
HOGENOMQ8NDW4
Homologs : HomoloGeneZNF248
Homology/Alignments : Family Browser (UCSC)ZNF248
Gene fusions - Rearrangements
Tumor Fusion PortalZNF248
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZNF248 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZNF248
dbVarZNF248
ClinVarZNF248
1000_GenomesZNF248 
Exome Variant ServerZNF248
ExAC (Exome Aggregation Consortium)ENSG00000198105
GNOMAD BrowserENSG00000198105
Genetic variants : HAPMAP57209
Genomic Variants (DGV)ZNF248 [DGVbeta]
DECIPHERZNF248 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZNF248 
Mutations
ICGC Data PortalZNF248 
TCGA Data PortalZNF248 
Broad Tumor PortalZNF248
OASIS PortalZNF248 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZNF248  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDZNF248
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
BioMutasearch ZNF248
DgiDB (Drug Gene Interaction Database)ZNF248
DoCM (Curated mutations)ZNF248 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZNF248 (select a term)
intoGenZNF248
Cancer3DZNF248(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETZNF248
MedgenZNF248
Genetic Testing Registry ZNF248
NextProtQ8NDW4 [Medical]
TSGene57209
GENETestsZNF248
Target ValidationZNF248
Huge Navigator ZNF248 [HugePedia]
snp3D : Map Gene to Disease57209
BioCentury BCIQZNF248
ClinGenZNF248
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57209
Chemical/Pharm GKB GenePA37619
Clinical trialZNF248
Miscellaneous
canSAR (ICR)ZNF248 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZNF248
EVEXZNF248
GoPubMedZNF248
iHOPZNF248
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 : Tue Nov 21 13:22:51 CET 2017

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