Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KIAA1324 (KIAA1324)

Identity

Alias_symbol (synonym)maba1
EIG121
Other alias
HGNC (Hugo) KIAA1324
LocusID (NCBI) 57535
Atlas_Id 46018
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 109113963 and ends at 109206781 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)
GNAI3 (1p13.3) / KIAA1324 (1p13.3)KIAA1324 (1p13.3) / KIAA1324 (1p13.3)SARS (1p13.3) / KIAA1324 (1p13.3)
TRAF3IP2 (6q21) / KIAA1324 (1p13.3)TSC22D3 (Xq22.3) / KIAA1324 (1p13.3)GNAI3 1p13.3 / KIAA1324 1p13.3
SARS 1p13.3 / KIAA1324 1p13.3TRAF3IP2 6q21 / KIAA1324 1p13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;1)(p13;p13) GNAI3/KIAA1324
t(1;1)(p13;p13) SARS/KIAA1324
t(1;6)(p13;q21) TRAF3IP2/KIAA1324

External links

Nomenclature
HGNC (Hugo)KIAA1324   29618
Cards
Entrez_Gene (NCBI)KIAA1324  57535  KIAA1324
AliasesEIG121
GeneCards (Weizmann)KIAA1324
Ensembl hg19 (Hinxton)ENSG00000116299 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116299 [Gene_View]  ENSG00000116299 [Sequence]  chr1:109113963-109206781 [Contig_View]  KIAA1324 [Vega]
ICGC DataPortalENSG00000116299
TCGA cBioPortalKIAA1324
AceView (NCBI)KIAA1324
Genatlas (Paris)KIAA1324
WikiGenes57535
SOURCE (Princeton)KIAA1324
Genetics Home Reference (NIH)KIAA1324
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA1324  -     chr1:109113963-109206781 +  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA1324  -     1p13.3   [Description]    (hg19-Feb_2009)
EnsemblKIAA1324 - 1p13.3 [CytoView hg19]  KIAA1324 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBIKIAA1324 [Mapview hg19]  KIAA1324 [Mapview hg38]
OMIM611298   
Gene and transcription
Genbank (Entrez)AB037745 AI923722 AJ512825 AJ512826 AK026832
RefSeq transcript (Entrez)NM_001267048 NM_001267049 NM_001284352 NM_001284353 NM_020775
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA1324
Cluster EST : UnigeneHs.708190 [ NCBI ]
CGAP (NCI)Hs.708190
Alternative Splicing GalleryENSG00000116299
Gene ExpressionKIAA1324 [ NCBI-GEO ]   KIAA1324 [ EBI - ARRAY_EXPRESS ]   KIAA1324 [ SEEK ]   KIAA1324 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA1324 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57535
GTEX Portal (Tissue expression)KIAA1324
Human Protein AtlasENSG00000116299-KIAA1324 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXG2
Splice isoforms : SwissVarQ6UXG2
PhosPhoSitePlusQ6UXG2
Domains : Interpro (EBI)Growth_fac_rcpt_    Man6P_isomerase_rcpt-bd_dom    Tyr-kin_ephrin_A/B_rcpt-like   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)Ephrin_rec_like (SM01411)  
Conserved Domain (NCBI)KIAA1324
DMDM Disease mutations57535
Blocks (Seattle)KIAA1324
SuperfamilyQ6UXG2
Human Protein Atlas [tissue]ENSG00000116299-KIAA1324 [tissue]
Peptide AtlasQ6UXG2
HPRD13850
IPIIPI00295813   IPI00643029   IPI00514428   IPI00845351   IPI00908383   IPI00816730   IPI00877056   IPI00976455   IPI00978845   IPI00976994   IPI00981850   IPI00979484   IPI00978273   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXG2
IntAct (EBI)Q6UXG2
FunCoupENSG00000116299
BioGRIDKIAA1324
STRING (EMBL)KIAA1324
ZODIACKIAA1324
Ontologies - Pathways
QuickGOQ6UXG2
Ontology : AmiGOautophagosome assembly  RNA binding  lysosome  lysosomal membrane  late endosome  trans-Golgi network  plasma membrane  integral component of plasma membrane  cellular response to starvation  late endosome membrane  positive regulation of vacuole organization  extracellular exosome  positive regulation of autophagosome assembly  
Ontology : EGO-EBIautophagosome assembly  RNA binding  lysosome  lysosomal membrane  late endosome  trans-Golgi network  plasma membrane  integral component of plasma membrane  cellular response to starvation  late endosome membrane  positive regulation of vacuole organization  extracellular exosome  positive regulation of autophagosome assembly  
NDEx NetworkKIAA1324
Atlas of Cancer Signalling NetworkKIAA1324
Wikipedia pathwaysKIAA1324
Orthology - Evolution
OrthoDB57535
GeneTree (enSembl)ENSG00000116299
Phylogenetic Trees/Animal Genes : TreeFamKIAA1324
HOVERGENQ6UXG2
HOGENOMQ6UXG2
Homologs : HomoloGeneKIAA1324
Homology/Alignments : Family Browser (UCSC)KIAA1324
Gene fusions - Rearrangements
Fusion : MitelmanGNAI3/KIAA1324 [1p13.3/1p13.3]  [t(1;1)(p13;p13)]  
Fusion : MitelmanSARS/KIAA1324 [1p13.3/1p13.3]  [t(1;1)(p13;p13)]  
Fusion : MitelmanTRAF3IP2/KIAA1324 [6q21/1p13.3]  [t(1;6)(p13;q21)]  
Fusion PortalGNAI3 1p13.3 KIAA1324 1p13.3 BRCA
Fusion PortalSARS 1p13.3 KIAA1324 1p13.3 BRCA
Fusion PortalTRAF3IP2 6q21 KIAA1324 1p13.3 PRAD
Fusion : QuiverKIAA1324
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA1324 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA1324
dbVarKIAA1324
ClinVarKIAA1324
1000_GenomesKIAA1324 
Exome Variant ServerKIAA1324
ExAC (Exome Aggregation Consortium)ENSG00000116299
GNOMAD BrowserENSG00000116299
Genetic variants : HAPMAP57535
Genomic Variants (DGV)KIAA1324 [DGVbeta]
DECIPHERKIAA1324 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA1324 
Mutations
ICGC Data PortalKIAA1324 
TCGA Data PortalKIAA1324 
Broad Tumor PortalKIAA1324
OASIS PortalKIAA1324 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA1324  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA1324
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch KIAA1324
DgiDB (Drug Gene Interaction Database)KIAA1324
DoCM (Curated mutations)KIAA1324 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA1324 (select a term)
intoGenKIAA1324
Cancer3DKIAA1324(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611298   
Orphanet
DisGeNETKIAA1324
MedgenKIAA1324
Genetic Testing Registry KIAA1324
NextProtQ6UXG2 [Medical]
TSGene57535
GENETestsKIAA1324
Target ValidationKIAA1324
Huge Navigator KIAA1324 [HugePedia]
snp3D : Map Gene to Disease57535
BioCentury BCIQKIAA1324
ClinGenKIAA1324
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57535
Chemical/Pharm GKB GenePA142671607
Clinical trialKIAA1324
Miscellaneous
canSAR (ICR)KIAA1324 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA1324
EVEXKIAA1324
GoPubMedKIAA1324
iHOPKIAA1324
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 Jun 22 16:32:03 CEST 2018
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