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KIAA1217 (KIAA1217)

Identity

Alias_symbol (synonym)DKFZP761L0424
SKT
Other aliasETL4
HGNC (Hugo) KIAA1217
LocusID (NCBI) 56243
Atlas_Id 54408
Location 10p12.2  [Link to chromosome band 10p12]
Location_base_pair Starts at 23694746 and ends at 24547848 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)
ANKS1A (6p21.31) / KIAA1217 (10p12.2)KIAA1217 (10p12.2) / DNAJC17 (15q15.1)KIAA1217 (10p12.2) / EIF4A2 (3q27.3)
KIAA1217 (10p12.2) / FCN1 (9q34.3)KIAA1217 (10p12.2) / GALNT14 (2p23.1)KIAA1217 (10p12.2) / KIAA1217 (10p12.2)
KIAA1217 (10p12.2) / PFKFB3 (10p15.1)KIAA1217 (10p12.2) / RNF17 (13q12.12)KIAA1217 (10p12.2) / SPAG6 (10p12.2)
PDE4D (5q11.2) / KIAA1217 (10p12.2)PDE7A (8q13.1) / KIAA1217 (10p12.2)SERPINA1 (14q32.13) / KIAA1217 (10p12.2)
SH3D19 (4q31.3) / KIAA1217 (10p12.2)KIAA1217 10p12.2 / PFKFB3 10p15.1KIAA1217 10p12.2 / SPAG6 10p12.2
PDE7A 8q13.1 / KIAA1217 10p12.2

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)KIAA1217   25428
Cards
Entrez_Gene (NCBI)KIAA1217  56243  KIAA1217
AliasesETL4; SKT
GeneCards (Weizmann)KIAA1217
Ensembl hg19 (Hinxton)ENSG00000120549 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120549 [Gene_View]  chr10:23694746-24547848 [Contig_View]  KIAA1217 [Vega]
ICGC DataPortalENSG00000120549
TCGA cBioPortalKIAA1217
AceView (NCBI)KIAA1217
Genatlas (Paris)KIAA1217
WikiGenes56243
SOURCE (Princeton)KIAA1217
Genetics Home Reference (NIH)KIAA1217
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA1217  -     chr10:23694746-24547848 +  10p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA1217  -     10p12.2   [Description]    (hg19-Feb_2009)
EnsemblKIAA1217 - 10p12.2 [CytoView hg19]  KIAA1217 - 10p12.2 [CytoView hg38]
Mapping of homologs : NCBIKIAA1217 [Mapview hg19]  KIAA1217 [Mapview hg38]
OMIM617367   
Gene and transcription
Genbank (Entrez)AB033043 AB291616 AK021984 AK024199 AK055179
RefSeq transcript (Entrez)NM_001098500 NM_001098501 NM_001282767 NM_001282768 NM_001282769 NM_001282770 NM_001321681 NM_019590
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA1217
Cluster EST : UnigeneHs.445885 [ NCBI ]
CGAP (NCI)Hs.445885
Alternative Splicing GalleryENSG00000120549
Gene ExpressionKIAA1217 [ NCBI-GEO ]   KIAA1217 [ EBI - ARRAY_EXPRESS ]   KIAA1217 [ SEEK ]   KIAA1217 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA1217 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56243
GTEX Portal (Tissue expression)KIAA1217
Human Protein AtlasENSG00000120549-KIAA1217 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T5P2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T5P2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T5P2
Splice isoforms : SwissVarQ5T5P2
PhosPhoSitePlusQ5T5P2
Domains : Interpro (EBI)AIP3_C    Skt   
Domain families : Pfam (Sanger)AIP3 (PF03915)   
Domain families : Pfam (NCBI)pfam03915   
Conserved Domain (NCBI)KIAA1217
DMDM Disease mutations56243
Blocks (Seattle)KIAA1217
SuperfamilyQ5T5P2
Human Protein Atlas [tissue]ENSG00000120549-KIAA1217 [tissue]
Peptide AtlasQ5T5P2
HPRD11132
IPIIPI00645403   IPI00103018   IPI00845521   IPI00853173   IPI01010021   IPI00878042   IPI00855886   IPI00909942   IPI00908793   IPI00187002   IPI00644401   
Protein Interaction databases
DIP (DOE-UCLA)Q5T5P2
IntAct (EBI)Q5T5P2
FunCoupENSG00000120549
BioGRIDKIAA1217
STRING (EMBL)KIAA1217
ZODIACKIAA1217
Ontologies - Pathways
QuickGOQ5T5P2
Ontology : AmiGOmolecular_function  cytoplasm  embryonic skeletal system development  
Ontology : EGO-EBImolecular_function  cytoplasm  embryonic skeletal system development  
NDEx NetworkKIAA1217
Atlas of Cancer Signalling NetworkKIAA1217
Wikipedia pathwaysKIAA1217
Orthology - Evolution
OrthoDB56243
GeneTree (enSembl)ENSG00000120549
Phylogenetic Trees/Animal Genes : TreeFamKIAA1217
HOVERGENQ5T5P2
HOGENOMQ5T5P2
Homologs : HomoloGeneKIAA1217
Homology/Alignments : Family Browser (UCSC)KIAA1217
Gene fusions - Rearrangements
Fusion : MitelmanKIAA1217/FCN1 [10p12.2/9q34.3]  
Fusion : MitelmanKIAA1217/PFKFB3 [10p12.2/10p15.1]  [t(10;10)(p12;p15)]  
Fusion : MitelmanKIAA1217/SPAG6 [10p12.2/10p12.2]  [t(10;10)(p12;p12)]  
Fusion : MitelmanPDE7A/KIAA1217 [8q13.1/10p12.2]  [t(8;10)(q13;p12)]  
Fusion : MitelmanSERPINA1/KIAA1217 [14q32.13/10p12.2]  [t(10;14)(p12;q32)]  
Fusion: TCGA_MDACCKIAA1217 10p12.2 PFKFB3 10p15.1 BRCA
Fusion: TCGA_MDACCKIAA1217 10p12.2 SPAG6 10p12.2 BLCA
Fusion: TCGA_MDACCPDE7A 8q13.1 KIAA1217 10p12.2 BRCA
Tumor Fusion PortalKIAA1217
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA1217 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA1217
dbVarKIAA1217
ClinVarKIAA1217
1000_GenomesKIAA1217 
Exome Variant ServerKIAA1217
ExAC (Exome Aggregation Consortium)ENSG00000120549
GNOMAD BrowserENSG00000120549
Genetic variants : HAPMAP56243
Genomic Variants (DGV)KIAA1217 [DGVbeta]
DECIPHERKIAA1217 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA1217 
Mutations
ICGC Data PortalKIAA1217 
TCGA Data PortalKIAA1217 
Broad Tumor PortalKIAA1217
OASIS PortalKIAA1217 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA1217  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA1217
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 KIAA1217
DgiDB (Drug Gene Interaction Database)KIAA1217
DoCM (Curated mutations)KIAA1217 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA1217 (select a term)
intoGenKIAA1217
Cancer3DKIAA1217(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617367   
Orphanet
DisGeNETKIAA1217
MedgenKIAA1217
Genetic Testing Registry KIAA1217
NextProtQ5T5P2 [Medical]
TSGene56243
GENETestsKIAA1217
Target ValidationKIAA1217
Huge Navigator KIAA1217 [HugePedia]
snp3D : Map Gene to Disease56243
BioCentury BCIQKIAA1217
ClinGenKIAA1217
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56243
Chemical/Pharm GKB GenePA134893343
Clinical trialKIAA1217
Miscellaneous
canSAR (ICR)KIAA1217 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA1217
EVEXKIAA1217
GoPubMedKIAA1217
iHOPKIAA1217
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 : Tue Nov 21 14:18:50 CET 2017

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