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KHDC4 (KH domain containing 4, pre-mRNA splicing factor)

Identity

Alias (NCBI)BLOM7
KIAA0907
SNORA80EHG
HGNC (Hugo) KHDC4
LocusID (NCBI) 22889
Atlas_Id 80288
Location 1q22  [Link to chromosome band 1q22]
Location_base_pair Starts at 155913045 and ends at 155934413 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)
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



External links

 

Nomenclature
HGNC (Hugo)KHDC4   29145
Cards
Entrez_Gene (NCBI)KHDC4    KH domain containing 4, pre-mRNA splicing factor
AliasesBLOM7; KIAA0907; SNORA80EHG
GeneCards (Weizmann)KHDC4
Ensembl hg19 (Hinxton)ENSG00000132680 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132680 [Gene_View]  ENSG00000132680 [Sequence]  chr1:155913045-155934413 [Contig_View]  KHDC4 [Vega]
ICGC DataPortalENSG00000132680
TCGA cBioPortalKHDC4
AceView (NCBI)KHDC4
Genatlas (Paris)KHDC4
SOURCE (Princeton)KHDC4
Genetics Home Reference (NIH)KHDC4
Genomic and cartography
GoldenPath hg38 (UCSC)KHDC4  -     chr1:155913045-155934413 -  1q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDC4  -     1q22   [Description]    (hg19-Feb_2009)
GoldenPathKHDC4 - 1q22 [CytoView hg19]  KHDC4 - 1q22 [CytoView hg38]
ImmunoBaseENSG00000132680
Genome Data Viewer NCBIKHDC4 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AB020714 AK225714 AK289902 AW206574 AY112680
RefSeq transcript (Entrez)NM_014949
Consensus coding sequences : CCDS (NCBI)KHDC4
Gene ExpressionKHDC4 [ NCBI-GEO ]   KHDC4 [ EBI - ARRAY_EXPRESS ]   KHDC4 [ SEEK ]   KHDC4 [ MEM ]
Gene Expression Viewer (FireBrowse)KHDC4 [ Firebrowse - Broad ]
GenevisibleExpression of KHDC4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22889
GTEX Portal (Tissue expression)KHDC4
Human Protein AtlasENSG00000132680-KHDC4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z7F0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z7F0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z7F0
PhosPhoSitePlusQ7Z7F0
Domains : Interpro (EBI)KH_dom_type_1_sf    RIK/BLOM7   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KHDC4
PDB (RSDB)2YQR   
PDB Europe2YQR   
PDB (PDBSum)2YQR   
PDB (IMB)2YQR   
Structural Biology KnowledgeBase2YQR   
SCOP (Structural Classification of Proteins)2YQR   
CATH (Classification of proteins structures)2YQR   
SuperfamilyQ7Z7F0
AlphaFold pdb e-kbQ7Z7F0   
Human Protein Atlas [tissue]ENSG00000132680-KHDC4 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q7Z7F0
IntAct (EBI)Q7Z7F0
BioGRIDKHDC4
STRING (EMBL)KHDC4
ZODIACKHDC4
Ontologies - Pathways
QuickGOQ7Z7F0
Ontology : AmiGORNA binding  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  mRNA splice site selection  
Ontology : EGO-EBIRNA binding  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  mRNA splice site selection  
NDEx NetworkKHDC4
Atlas of Cancer Signalling NetworkKHDC4
Wikipedia pathwaysKHDC4
Orthology - Evolution
OrthoDB22889
GeneTree (enSembl)ENSG00000132680
Phylogenetic Trees/Animal Genes : TreeFamKHDC4
Homologs : HomoloGeneKHDC4
Homology/Alignments : Family Browser (UCSC)KHDC4
Gene fusions - Rearrangements
Fusion : QuiverKHDC4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDC4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDC4
dbVarKHDC4
ClinVarKHDC4
MonarchKHDC4
1000_GenomesKHDC4 
Exome Variant ServerKHDC4
GNOMAD BrowserENSG00000132680
Varsome BrowserKHDC4
ACMGKHDC4 variants
VarityQ7Z7F0
Genomic Variants (DGV)KHDC4 [DGVbeta]
DECIPHERKHDC4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDC4 
Mutations
ICGC Data PortalKHDC4 
TCGA Data PortalKHDC4 
Broad Tumor PortalKHDC4
OASIS PortalKHDC4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDC4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKHDC4
Mutations and Diseases : HGMDKHDC4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKHDC4
DgiDB (Drug Gene Interaction Database)KHDC4
DoCM (Curated mutations)KHDC4
CIViC (Clinical Interpretations of Variants in Cancer)KHDC4
Cancer3DKHDC4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKHDC4
MedgenKHDC4
Genetic Testing Registry KHDC4
NextProtQ7Z7F0 [Medical]
GENETestsKHDC4
Target ValidationKHDC4
Huge Navigator KHDC4 [HugePedia]
ClinGenKHDC4
Clinical trials, drugs, therapy
MyCancerGenomeKHDC4
Protein Interactions : CTDKHDC4
Pharm GKB GenePA142671618
PharosQ7Z7F0
Clinical trialKHDC4
Miscellaneous
canSAR (ICR)KHDC4
HarmonizomeKHDC4
DataMed IndexKHDC4
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKHDC4
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 15:54:31 CEST 2021

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