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KIAA0368 (KIAA0368)

Identity

Alias_symbol (synonym)FLJ22036
ECM29
Other alias
HGNC (Hugo) KIAA0368
LocusID (NCBI) 23392
Atlas_Id 53903
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 111360693 and ends at 111484745 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KIAA0368 (9q31.3) / KIAA0368 (9q31.3)KIAA0368 (9q31.3) / PACS1 (11q13.1)KIAA0368 (9q31.3) / WNK2 (9q22.31)
MRRF (9q33.2) / KIAA0368 (9q31.3)KIAA0368 9q31.3 / PACS1 11q13.1KIAA0368 9q31.3 / WNK2 9q22.31
MRRF 9q33.2 / KIAA0368 9q31.3

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)KIAA0368   29020
Cards
Entrez_Gene (NCBI)KIAA0368  23392  KIAA0368
AliasesECM29
GeneCards (Weizmann)KIAA0368
Ensembl hg19 (Hinxton)ENSG00000136813 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136813 [Gene_View]  chr9:111360693-111484745 [Contig_View]  KIAA0368 [Vega]
ICGC DataPortalENSG00000136813
TCGA cBioPortalKIAA0368
AceView (NCBI)KIAA0368
Genatlas (Paris)KIAA0368
WikiGenes23392
SOURCE (Princeton)KIAA0368
Genetics Home Reference (NIH)KIAA0368
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA0368  -     chr9:111360693-111484745 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA0368  -     9q31.3   [Description]    (hg19-Feb_2009)
EnsemblKIAA0368 - 9q31.3 [CytoView hg19]  KIAA0368 - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIKIAA0368 [Mapview hg19]  KIAA0368 [Mapview hg38]
OMIM616694   
Gene and transcription
Genbank (Entrez)AB002366 AF052139 AK024705 AK025689 AK027063
RefSeq transcript (Entrez)NM_001080398
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA0368
Cluster EST : UnigeneHs.368255 [ NCBI ]
CGAP (NCI)Hs.368255
Alternative Splicing GalleryENSG00000136813
Gene ExpressionKIAA0368 [ NCBI-GEO ]   KIAA0368 [ EBI - ARRAY_EXPRESS ]   KIAA0368 [ SEEK ]   KIAA0368 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA0368 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23392
GTEX Portal (Tissue expression)KIAA0368
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VYK3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VYK3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VYK3
Splice isoforms : SwissVarQ5VYK3
PhosPhoSitePlusQ5VYK3
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Ecm29    Vac14_Fab1-bd   
Domain families : Pfam (Sanger)Ecm29 (PF13001)    Vac14_Fab1_bd (PF12755)   
Domain families : Pfam (NCBI)pfam13001    pfam12755   
Conserved Domain (NCBI)KIAA0368
DMDM Disease mutations23392
Blocks (Seattle)KIAA0368
SuperfamilyQ5VYK3
Human Protein AtlasENSG00000136813
Peptide AtlasQ5VYK3
IPIIPI01015062   IPI00157790   IPI00639848   
Protein Interaction databases
DIP (DOE-UCLA)Q5VYK3
IntAct (EBI)Q5VYK3
FunCoupENSG00000136813
BioGRIDKIAA0368
STRING (EMBL)KIAA0368
ZODIACKIAA0368
Ontologies - Pathways
QuickGOQ5VYK3
Ontology : AmiGOproteasome complex  molecular_function  protein binding  nucleus  early endosome  late endosome  multivesicular body  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  trans-Golgi network  centrosome  membrane  ER to Golgi transport vesicle  endocytic vesicle  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  protein complex scaffold  proteasome assembly  
Ontology : EGO-EBIproteasome complex  molecular_function  protein binding  nucleus  early endosome  late endosome  multivesicular body  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  trans-Golgi network  centrosome  membrane  ER to Golgi transport vesicle  endocytic vesicle  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  protein complex scaffold  proteasome assembly  
NDEx NetworkKIAA0368
Atlas of Cancer Signalling NetworkKIAA0368
Wikipedia pathwaysKIAA0368
Orthology - Evolution
OrthoDB23392
GeneTree (enSembl)ENSG00000136813
Phylogenetic Trees/Animal Genes : TreeFamKIAA0368
HOVERGENQ5VYK3
HOGENOMQ5VYK3
Homologs : HomoloGeneKIAA0368
Homology/Alignments : Family Browser (UCSC)KIAA0368
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0368/PACS1 [9q31.3/11q13.1]  
Fusion : MitelmanKIAA0368/WNK2 [9q31.3/9q22.31]  [t(9;9)(q22;q31)]  
Fusion : MitelmanMRRF/KIAA0368 [9q33.2/9q31.3]  [t(9;9)(q31;q33)]  
Fusion: TCGAKIAA0368 9q31.3 PACS1 11q13.1 BRCA
Fusion: TCGAKIAA0368 9q31.3 WNK2 9q22.31 BRCA
Fusion: TCGAMRRF 9q33.2 KIAA0368 9q31.3 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA0368 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0368
dbVarKIAA0368
ClinVarKIAA0368
1000_GenomesKIAA0368 
Exome Variant ServerKIAA0368
ExAC (Exome Aggregation Consortium)KIAA0368 (select the gene name)
Genetic variants : HAPMAP23392
Genomic Variants (DGV)KIAA0368 [DGVbeta]
DECIPHERKIAA0368 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA0368 
Mutations
ICGC Data PortalKIAA0368 
TCGA Data PortalKIAA0368 
Broad Tumor PortalKIAA0368
OASIS PortalKIAA0368 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA0368  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA0368
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KIAA0368
DgiDB (Drug Gene Interaction Database)KIAA0368
DoCM (Curated mutations)KIAA0368 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA0368 (select a term)
intoGenKIAA0368
Cancer3DKIAA0368(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616694   
Orphanet
MedgenKIAA0368
Genetic Testing Registry KIAA0368
NextProtQ5VYK3 [Medical]
TSGene23392
GENETestsKIAA0368
Huge Navigator KIAA0368 [HugePedia]
snp3D : Map Gene to Disease23392
BioCentury BCIQKIAA0368
ClinGenKIAA0368
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23392
Chemical/Pharm GKB GenePA134979723
Clinical trialKIAA0368
Miscellaneous
canSAR (ICR)KIAA0368 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA0368
EVEXKIAA0368
GoPubMedKIAA0368
iHOPKIAA0368
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 : Fri May 19 12:21:28 CEST 2017

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