Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KIAA2022 (KIAA2022)

Identity

Alias_namesneurite extension
Alias_symbol (synonym)XPN
MRX98
Other aliasKIDLIA
HGNC (Hugo) KIAA2022
LocusID (NCBI) 340533
Atlas_Id 52102
Location Xq13.3  [Link to chromosome band Xq13]
Location_base_pair Starts at 74732856 and ends at 74925452 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PSMD12 (17q24.2) / KIAA2022 (Xq13.3)PSMD12 17q24.2 / KIAA2022 Xq13.3

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)KIAA2022   29433
Cards
Entrez_Gene (NCBI)KIAA2022  340533  KIAA2022
AliasesKIDLIA; MRX98; XPN
GeneCards (Weizmann)KIAA2022
Ensembl hg19 (Hinxton)ENSG00000050030 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000050030 [Gene_View]  chrX:74732856-74925452 [Contig_View]  KIAA2022 [Vega]
ICGC DataPortalENSG00000050030
TCGA cBioPortalKIAA2022
AceView (NCBI)KIAA2022
Genatlas (Paris)KIAA2022
WikiGenes340533
SOURCE (Princeton)KIAA2022
Genetics Home Reference (NIH)KIAA2022
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA2022  -     chrX:74732856-74925452 -  Xq13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA2022  -     Xq13.3   [Description]    (hg19-Feb_2009)
EnsemblKIAA2022 - Xq13.3 [CytoView hg19]  KIAA2022 - Xq13.3 [CytoView hg38]
Mapping of homologs : NCBIKIAA2022 [Mapview hg19]  KIAA2022 [Mapview hg38]
OMIM300524   300912   
Gene and transcription
Genbank (Entrez)AB095942 AI167637 AK128651 AK307471 AY563507
RefSeq transcript (Entrez)NM_001008537
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA2022
Cluster EST : UnigeneHs.124128 [ NCBI ]
CGAP (NCI)Hs.124128
Alternative Splicing GalleryENSG00000050030
Gene ExpressionKIAA2022 [ NCBI-GEO ]   KIAA2022 [ EBI - ARRAY_EXPRESS ]   KIAA2022 [ SEEK ]   KIAA2022 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA2022 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340533
GTEX Portal (Tissue expression)KIAA2022
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5QGS0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5QGS0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5QGS0
Splice isoforms : SwissVarQ5QGS0
PhosPhoSitePlusQ5QGS0
Domains : Interpro (EBI)DUF4683   
Domain families : Pfam (Sanger)DUF4683 (PF15735)   
Domain families : Pfam (NCBI)pfam15735   
Conserved Domain (NCBI)KIAA2022
DMDM Disease mutations340533
Blocks (Seattle)KIAA2022
SuperfamilyQ5QGS0
Human Protein AtlasENSG00000050030
Peptide AtlasQ5QGS0
HPRD15957
IPIIPI00238220   IPI00645516   
Protein Interaction databases
DIP (DOE-UCLA)Q5QGS0
IntAct (EBI)Q5QGS0
FunCoupENSG00000050030
BioGRIDKIAA2022
STRING (EMBL)KIAA2022
ZODIACKIAA2022
Ontologies - Pathways
QuickGOQ5QGS0
Ontology : AmiGOnucleus  nervous system development  zeta DNA polymerase complex  error-prone translesion synthesis  
Ontology : EGO-EBInucleus  nervous system development  zeta DNA polymerase complex  error-prone translesion synthesis  
NDEx NetworkKIAA2022
Atlas of Cancer Signalling NetworkKIAA2022
Wikipedia pathwaysKIAA2022
Orthology - Evolution
OrthoDB340533
GeneTree (enSembl)ENSG00000050030
Phylogenetic Trees/Animal Genes : TreeFamKIAA2022
HOVERGENQ5QGS0
HOGENOMQ5QGS0
Homologs : HomoloGeneKIAA2022
Homology/Alignments : Family Browser (UCSC)KIAA2022
Gene fusions - Rearrangements
Fusion : MitelmanPSMD12/KIAA2022 [17q24.2/Xq13.3]  [t(X;17)(q13;q24)]  
Fusion: TCGAPSMD12 17q24.2 KIAA2022 Xq13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA2022 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA2022
dbVarKIAA2022
ClinVarKIAA2022
1000_GenomesKIAA2022 
Exome Variant ServerKIAA2022
ExAC (Exome Aggregation Consortium)KIAA2022 (select the gene name)
Genetic variants : HAPMAP340533
Genomic Variants (DGV)KIAA2022 [DGVbeta]
DECIPHERKIAA2022 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA2022 
Mutations
ICGC Data PortalKIAA2022 
TCGA Data PortalKIAA2022 
Broad Tumor PortalKIAA2022
OASIS PortalKIAA2022 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA2022  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA2022
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch KIAA2022
DgiDB (Drug Gene Interaction Database)KIAA2022
DoCM (Curated mutations)KIAA2022 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA2022 (select a term)
intoGenKIAA2022
Cancer3DKIAA2022(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300524    300912   
Orphanet11667   
MedgenKIAA2022
Genetic Testing Registry KIAA2022
NextProtQ5QGS0 [Medical]
TSGene340533
GENETestsKIAA2022
Target ValidationKIAA2022
Huge Navigator KIAA2022 [HugePedia]
snp3D : Map Gene to Disease340533
BioCentury BCIQKIAA2022
ClinGenKIAA2022 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340533
Chemical/Pharm GKB GenePA162393214
Clinical trialKIAA2022
Miscellaneous
canSAR (ICR)KIAA2022 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA2022
EVEXKIAA2022
GoPubMedKIAA2022
iHOPKIAA2022
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:39:33 CEST 2017

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