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KIAA1033 (KIAA1033)

Identity

Alias_symbol (synonym)SWIP
Other aliasMRT43
HGNC (Hugo) KIAA1033
LocusID (NCBI) 23325
Atlas_Id 54406
Location 12q23.3  [Link to chromosome band 12q23]
Location_base_pair Starts at 105501492 and ends at 105562912 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIAA1033 (12q23.3) / AUTS2 (7q11.22)KIAA1033 (12q23.3) / LGR5 (12q21.1)KIAA1033 (12q23.3) / PCDH9 (13q21.32)
KIAA1033 (12q23.3) / VPS41 (7p14.1)KIAA1033 12q23.3 / AUTS2 7q11.22KIAA1033 12q23.3 / LGR5 12q21.1
KIAA1033 12q23.3 / PCDH9 13q21.32

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)KIAA1033   29174
Cards
Entrez_Gene (NCBI)KIAA1033  23325  KIAA1033
AliasesMRT43; SWIP
GeneCards (Weizmann)KIAA1033
Ensembl hg19 (Hinxton)ENSG00000136051 [Gene_View]  chr12:105501492-105562912 [Contig_View]  KIAA1033 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136051 [Gene_View]  chr12:105501492-105562912 [Contig_View]  KIAA1033 [Vega]
ICGC DataPortalENSG00000136051
TCGA cBioPortalKIAA1033
AceView (NCBI)KIAA1033
Genatlas (Paris)KIAA1033
WikiGenes23325
SOURCE (Princeton)KIAA1033
Genetics Home Reference (NIH)KIAA1033
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA1033  -     chr12:105501492-105562912 +  12q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA1033  -     12q23.3   [Description]    (hg38-Dec_2013)
EnsemblKIAA1033 - 12q23.3 [CytoView hg19]  KIAA1033 - 12q23.3 [CytoView hg38]
Mapping of homologs : NCBIKIAA1033 [Mapview hg19]  KIAA1033 [Mapview hg38]
OMIM615748   615817   
Gene and transcription
Genbank (Entrez)AB028956 AF075010 AI753633 AK001657 AK001728
RefSeq transcript (Entrez)NM_001293640 NM_015275
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_034157 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)KIAA1033
Cluster EST : UnigeneHs.12144 [ NCBI ]
CGAP (NCI)Hs.12144
Alternative Splicing GalleryENSG00000136051
Gene ExpressionKIAA1033 [ NCBI-GEO ]   KIAA1033 [ EBI - ARRAY_EXPRESS ]   KIAA1033 [ SEEK ]   KIAA1033 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA1033 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23325
GTEX Portal (Tissue expression)KIAA1033
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2M389   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2M389  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2M389
Splice isoforms : SwissVarQ2M389
PhosPhoSitePlusQ2M389
Domains : Interpro (EBI)WASH-7_C    WASH-7_central    WASH-7_N    WASH7   
Domain families : Pfam (Sanger)WASH-7_C (PF14746)    WASH-7_mid (PF14744)    WASH-7_N (PF14745)   
Domain families : Pfam (NCBI)pfam14746    pfam14744    pfam14745   
Conserved Domain (NCBI)KIAA1033
DMDM Disease mutations23325
Blocks (Seattle)KIAA1033
SuperfamilyQ2M389
Human Protein AtlasENSG00000136051
Peptide AtlasQ2M389
HPRD13829
IPIIPI00164930   IPI00298991   IPI01022176   IPI01025766   IPI01021891   IPI01022968   
Protein Interaction databases
DIP (DOE-UCLA)Q2M389
IntAct (EBI)Q2M389
FunCoupENSG00000136051
BioGRIDKIAA1033
STRING (EMBL)KIAA1033
ZODIACKIAA1033
Ontologies - Pathways
QuickGOQ2M389
Ontology : AmiGOnucleoplasm  endosome  early endosome  endosome organization  protein transport  endosomal transport  endosomal transport  BLOC-1 complex  WASH complex  
Ontology : EGO-EBInucleoplasm  endosome  early endosome  endosome organization  protein transport  endosomal transport  endosomal transport  BLOC-1 complex  WASH complex  
NDEx NetworkKIAA1033
Atlas of Cancer Signalling NetworkKIAA1033
Wikipedia pathwaysKIAA1033
Orthology - Evolution
OrthoDB23325
GeneTree (enSembl)ENSG00000136051
Phylogenetic Trees/Animal Genes : TreeFamKIAA1033
HOVERGENQ2M389
HOGENOMQ2M389
Homologs : HomoloGeneKIAA1033
Homology/Alignments : Family Browser (UCSC)KIAA1033
Gene fusions - Rearrangements
Fusion : MitelmanKIAA1033/AUTS2 [12q23.3/7q11.22]  
Fusion : MitelmanKIAA1033/LGR5 [12q23.3/12q21.1]  [t(12;12)(q21;q23)]  
Fusion : MitelmanKIAA1033/PCDH9 [12q23.3/13q21.32]  [t(12;13)(q23;q21)]  
Fusion: TCGAKIAA1033 12q23.3 AUTS2 7q11.22 BRCA
Fusion: TCGAKIAA1033 12q23.3 LGR5 12q21.1 GBM
Fusion: TCGAKIAA1033 12q23.3 PCDH9 13q21.32 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA1033 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA1033
dbVarKIAA1033
ClinVarKIAA1033
1000_GenomesKIAA1033 
Exome Variant ServerKIAA1033
ExAC (Exome Aggregation Consortium)KIAA1033 (select the gene name)
Genetic variants : HAPMAP23325
Genomic Variants (DGV)KIAA1033 [DGVbeta]
DECIPHER (Syndromes)12:105501492-105562912  ENSG00000136051
CONAN: Copy Number AnalysisKIAA1033 
Mutations
ICGC Data PortalKIAA1033 
TCGA Data PortalKIAA1033 
Broad Tumor PortalKIAA1033
OASIS PortalKIAA1033 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA1033  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA1033
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 KIAA1033
DgiDB (Drug Gene Interaction Database)KIAA1033
DoCM (Curated mutations)KIAA1033 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA1033 (select a term)
intoGenKIAA1033
Cancer3DKIAA1033(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615748    615817   
Orphanet11804   
MedgenKIAA1033
Genetic Testing Registry KIAA1033
NextProtQ2M389 [Medical]
TSGene23325
GENETestsKIAA1033
Huge Navigator KIAA1033 [HugePedia]
snp3D : Map Gene to Disease23325
BioCentury BCIQKIAA1033
ClinGenKIAA1033
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23325
Chemical/Pharm GKB GenePA128394626
Clinical trialKIAA1033
Miscellaneous
canSAR (ICR)KIAA1033 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA1033
EVEXKIAA1033
GoPubMedKIAA1033
iHOPKIAA1033
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:48 CET 2017

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