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ZNF248 (zinc finger protein 248)

Identity

Alias (NCBI)bA162G10.3
HGNC (Hugo) ZNF248
HGNC Alias symbbA162G10.3
LocusID (NCBI) 57209
Atlas_Id 76048
Location 10p11.21  [Link to chromosome band 10p11]
Location_base_pair Starts at 37828765 and ends at 37857636 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    zinc finger protein 248
AliasesbA162G10.3
GeneCards (Weizmann)ZNF248
Ensembl hg19 (Hinxton)ENSG00000198105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198105 [Gene_View]  ENSG00000198105 [Sequence]  chr10:37828765-37857636 [Contig_View]  ZNF248 [Vega]
ICGC DataPortalENSG00000198105
TCGA cBioPortalZNF248
AceView (NCBI)ZNF248
Genatlas (Paris)ZNF248
SOURCE (Princeton)ZNF248
Genetics Home Reference (NIH)ZNF248
Genomic and cartography
GoldenPath hg38 (UCSC)ZNF248  -     chr10:37828765-37857636 -  10p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZNF248  -     10p11.21   [Description]    (hg19-Feb_2009)
GoldenPathZNF248 - 10p11.21 [CytoView hg19]  ZNF248 - 10p11.21 [CytoView hg38]
ImmunoBaseENSG00000198105
Genome Data Viewer NCBIZNF248 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA836603 AJ491695 AJ492196 AK125538 AK293936
RefSeq transcript (Entrez)NM_001267597 NM_001267605 NM_001267606 NM_001267607 NM_001352469 NM_001352470 NM_001352471 NM_001352472 NM_001352473 NM_001352474 NM_001352476 NM_001352477 NM_001352478 NM_001352479 NM_001352480 NM_001352481 NM_001352482 NM_001352483 NM_001352484 NM_001352485 NM_001352486 NM_001352487 NM_001352488 NM_001352489 NM_001352490 NM_001352491 NM_001352492 NM_001352493 NM_001352494 NM_021045
Consensus coding sequences : CCDS (NCBI)ZNF248
Gene ExpressionZNF248 [ NCBI-GEO ]   ZNF248 [ EBI - ARRAY_EXPRESS ]   ZNF248 [ SEEK ]   ZNF248 [ MEM ]
Gene Expression Viewer (FireBrowse)ZNF248 [ Firebrowse - Broad ]
GenevisibleExpression of ZNF248 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
PhosPhoSitePlusQ8NDW4
Domaine pattern : Prosite (Expaxy)KRAB (PS50805)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)KRAB    KRAB_dom_sf    Znf_C2H2_sf    Znf_C2H2_type   
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
SuperfamilyQ8NDW4
AlphaFold pdb e-kbQ8NDW4   
Human Protein Atlas [tissue]ENSG00000198105-ZNF248 [tissue]
HPRD15757
Protein Interaction databases
DIP (DOE-UCLA)Q8NDW4
IntAct (EBI)Q8NDW4
BioGRIDZNF248
STRING (EMBL)ZNF248
ZODIACZNF248
Ontologies - Pathways
QuickGOQ8NDW4
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkZNF248
Atlas of Cancer Signalling NetworkZNF248
Wikipedia pathwaysZNF248
Orthology - Evolution
OrthoDB57209
GeneTree (enSembl)ENSG00000198105
Phylogenetic Trees/Animal Genes : TreeFamZNF248
Homologs : HomoloGeneZNF248
Homology/Alignments : Family Browser (UCSC)ZNF248
Gene fusions - Rearrangements
Fusion : QuiverZNF248
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZNF248 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZNF248
dbVarZNF248
ClinVarZNF248
MonarchZNF248
1000_GenomesZNF248 
Exome Variant ServerZNF248
GNOMAD BrowserENSG00000198105
Varsome BrowserZNF248
ACMGZNF248 variants
VarityQ8NDW4
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]  
Somatic Mutations in Cancer : COSMIC3DZNF248
Mutations and Diseases : HGMDZNF248
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaZNF248
DgiDB (Drug Gene Interaction Database)ZNF248
DoCM (Curated mutations)ZNF248
CIViC (Clinical Interpretations of Variants in Cancer)ZNF248
Cancer3DZNF248
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETZNF248
MedgenZNF248
Genetic Testing Registry ZNF248
NextProtQ8NDW4 [Medical]
GENETestsZNF248
Target ValidationZNF248
Huge Navigator ZNF248 [HugePedia]
ClinGenZNF248
Clinical trials, drugs, therapy
MyCancerGenomeZNF248
Protein Interactions : CTDZNF248
Pharm GKB GenePA37619
PharosQ8NDW4
Clinical trialZNF248
Miscellaneous
canSAR (ICR)ZNF248
HarmonizomeZNF248
DataMed IndexZNF248
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXZNF248
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:29:23 CEST 2021

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