Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KIAA0247 (KIAA0247)

Identity

Other names-
HGNC (Hugo) KIAA0247
LocusID (NCBI) 9766
Location 14q24.1
Location_base_pair Starts at 70078310 and ends at 70181861 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)KIAA0247   19956
Cards
Entrez_Gene (NCBI)KIAA0247  9766  KIAA0247
GeneCards (Weizmann)KIAA0247
Ensembl hg19 (Hinxton)ENSG00000100647 [Gene_View]  chr14:70078310-70181861 [Contig_View]  KIAA0247 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100647 [Gene_View]  chr14:70078310-70181861 [Contig_View]  KIAA0247 [Vega]
ICGC DataPortalENSG00000100647
cBioPortalKIAA0247
AceView (NCBI)KIAA0247
Genatlas (Paris)KIAA0247
WikiGenes9766
SOURCE (Princeton)KIAA0247
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA0247  -     chr14:70078310-70181861 +  14q24.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA0247  -     14q24.1   [Description]    (hg38-Dec_2013)
EnsemblKIAA0247 - 14q24.1 [CytoView hg19]  KIAA0247 - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIKIAA0247 [Mapview hg19]  KIAA0247 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK130809 AK309302 BC064697 D87434 DC346928
RefSeq transcript (Entrez)NM_014734
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NT_026437 NW_001838113 NW_004929393
Consensus coding sequences : CCDS (NCBI)KIAA0247
Cluster EST : UnigeneHs.440025 [ NCBI ]
CGAP (NCI)Hs.440025
Alternative Splicing : Fast-db (Paris)GSHG0008943
Alternative Splicing GalleryENSG00000100647
Gene ExpressionKIAA0247 [ NCBI-GEO ]     KIAA0247 [ SEEK ]   KIAA0247 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92537 (Uniprot)
NextProtQ92537  [Medical]
With graphics : InterProQ92537
Splice isoforms : SwissVarQ92537 (Swissvar)
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)   
Domains : Interpro (EBI)Sushi_SCR_CCP   
Related proteins : CluSTrQ92537
Domain families : Pfam (Sanger)Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
DMDM Disease mutations9766
Blocks (Seattle)Q92537
Human Protein AtlasENSG00000100647
Peptide AtlasQ92537
HPRD10010
IPIIPI00021951   
Protein Interaction databases
DIP (DOE-UCLA)Q92537
IntAct (EBI)Q92537
FunCoupENSG00000100647
BioGRIDKIAA0247
IntegromeDBKIAA0247
STRING (EMBL)KIAA0247
Ontologies - Pathways
QuickGOQ92537
Ontology : AmiGOmolecular_function  cellular_component  biological_process  integral component of membrane  
Ontology : EGO-EBImolecular_function  cellular_component  biological_process  integral component of membrane  
Protein Interaction DatabaseKIAA0247
DoCM (Curated mutations)KIAA0247
Wikipedia pathwaysKIAA0247
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKIAA0247 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0247
dbVarKIAA0247
ClinVarKIAA0247
1000_GenomesKIAA0247 
Exome Variant ServerKIAA0247
SNP (GeneSNP Utah)KIAA0247
SNP : HGBaseKIAA0247
Genetic variants : HAPMAPKIAA0247
Genomic VariantsKIAA0247  KIAA0247 [DGVbeta]
Mutations
ICGC Data PortalENSG00000100647 
Somatic Mutations in Cancer : COSMICKIAA0247 
CONAN: Copy Number AnalysisKIAA0247 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:70078310-70181861
Mutations and Diseases : HGMDKIAA0247
OMIM
MedgenKIAA0247
NextProtQ92537 [Medical]
GENETestsKIAA0247
Disease Genetic AssociationKIAA0247
Huge Navigator KIAA0247 [HugePedia]  KIAA0247 [HugeCancerGEM]
snp3D : Map Gene to Disease9766
DGIdb (Drug Gene Interaction db)KIAA0247
General knowledge
Homologs : HomoloGeneKIAA0247
Homology/Alignments : Family Browser (UCSC)KIAA0247
Phylogenetic Trees/Animal Genes : TreeFamKIAA0247
Chemical/Protein Interactions : CTD9766
Chemical/Pharm GKB GenePA128394557
Clinical trialKIAA0247
Cancer Resource (Charite)ENSG00000100647
Other databases
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
CoreMineKIAA0247
GoPubMedKIAA0247
iHOPKIAA0247
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:17:15 CET 2014

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