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KIAA0100 (KIAA0100)

Identity

Alias_symbol (synonym)DKFZp686M0843
MGC111488
BCOX1
CT101
BCOX
FMP27
Other alias
HGNC (Hugo) KIAA0100
LocusID (NCBI) 9703
Atlas_Id 46601
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 28614440 and ends at 28645159 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)
CD3D (11q23.3) / KIAA0100 (17q11.2)KIAA0100 (17q11.2) / ALKBH5 (17p11.2)KIAA0100 (17q11.2) / C1QTNF1 (17q25.3)
KIAA0100 (17q11.2) / CLCN6 (1p36.22)KIAA0100 (17q11.2) / MYO18A (17q11.2)KIAA0100 (17q11.2) / SEZ6 (17q11.2)
KIAA0100 (17q11.2) / TEX14 (17q22)KIAA0100 (17q11.2) / TRAPPC3 (1p34.3)RTKN2 (10q21.2) / KIAA0100 (17q11.2)
KIAA0100 17q11.2 / ALKBH5 17p11.2KIAA0100 17q11.2 / SEZ6 17q11.2KIAA0100 17q11.2 / TEX14 17q22

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)KIAA0100   28960
Cards
Entrez_Gene (NCBI)KIAA0100  9703  KIAA0100
AliasesBCOX; BCOX1; CT101; FMP27
GeneCards (Weizmann)KIAA0100
Ensembl hg19 (Hinxton)ENSG00000007202 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007202 [Gene_View]  chr17:28614440-28645159 [Contig_View]  KIAA0100 [Vega]
ICGC DataPortalENSG00000007202
TCGA cBioPortalKIAA0100
AceView (NCBI)KIAA0100
Genatlas (Paris)KIAA0100
WikiGenes9703
SOURCE (Princeton)KIAA0100
Genetics Home Reference (NIH)KIAA0100
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA0100  -     chr17:28614440-28645159 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA0100  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblKIAA0100 - 17q11.2 [CytoView hg19]  KIAA0100 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIKIAA0100 [Mapview hg19]  KIAA0100 [Mapview hg38]
OMIM610664   
Gene and transcription
Genbank (Entrez)AB621823 AK130007 AK307216 AW161205 AY943906
RefSeq transcript (Entrez)NM_001321560 NM_001321561 NM_014680
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA0100
Cluster EST : UnigeneHs.151761 [ NCBI ]
CGAP (NCI)Hs.151761
Alternative Splicing GalleryENSG00000007202
Gene ExpressionKIAA0100 [ NCBI-GEO ]   KIAA0100 [ EBI - ARRAY_EXPRESS ]   KIAA0100 [ SEEK ]   KIAA0100 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA0100 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9703
GTEX Portal (Tissue expression)KIAA0100
Human Protein AtlasENSG00000007202-KIAA0100 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14667   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14667  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14667
Splice isoforms : SwissVarQ14667
PhosPhoSitePlusQ14667
Domains : Interpro (EBI)FMP27_C    FMP27_GFWDK_dom    FMP27_N   
Domain families : Pfam (Sanger)Apt1 (PF10351)    Fmp27 (PF10344)    Fmp27_GFWDK (PF10347)   
Domain families : Pfam (NCBI)pfam10351    pfam10344    pfam10347   
Domain families : Smart (EMBL)Fmp27_GFWDK (SM01214)  
Conserved Domain (NCBI)KIAA0100
DMDM Disease mutations9703
Blocks (Seattle)KIAA0100
SuperfamilyQ14667
Human Protein Atlas [tissue]ENSG00000007202-KIAA0100 [tissue]
Peptide AtlasQ14667
HPRD11064
IPIIPI00373894   IPI00784567   IPI00785006   IPI00784975   IPI00983600   
Protein Interaction databases
DIP (DOE-UCLA)Q14667
IntAct (EBI)Q14667
FunCoupENSG00000007202
BioGRIDKIAA0100
STRING (EMBL)KIAA0100
ZODIACKIAA0100
Ontologies - Pathways
QuickGOQ14667
Ontology : AmiGOextracellular region  
Ontology : EGO-EBIextracellular region  
NDEx NetworkKIAA0100
Atlas of Cancer Signalling NetworkKIAA0100
Wikipedia pathwaysKIAA0100
Orthology - Evolution
OrthoDB9703
GeneTree (enSembl)ENSG00000007202
Phylogenetic Trees/Animal Genes : TreeFamKIAA0100
HOVERGENQ14667
HOGENOMQ14667
Homologs : HomoloGeneKIAA0100
Homology/Alignments : Family Browser (UCSC)KIAA0100
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0100/ALKBH5 [17q11.2/17p11.2]  
Fusion : MitelmanKIAA0100/MYO18A [17q11.2/17q11.2]  [dup(17)(q11q11)]  
Fusion : MitelmanKIAA0100/SEZ6 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanKIAA0100/TEX14 [17q11.2/17q22]  [t(17;17)(q11;q22)]  
Fusion: TCGA_MDACCKIAA0100 17q11.2 ALKBH5 17p11.2 LUSC
Fusion: TCGA_MDACCKIAA0100 17q11.2 SEZ6 17q11.2 LUSC
Fusion: TCGA_MDACCKIAA0100 17q11.2 TEX14 17q22 BRCA
Tumor Fusion PortalKIAA0100
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA0100 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0100
dbVarKIAA0100
ClinVarKIAA0100
1000_GenomesKIAA0100 
Exome Variant ServerKIAA0100
ExAC (Exome Aggregation Consortium)ENSG00000007202
GNOMAD BrowserENSG00000007202
Genetic variants : HAPMAP9703
Genomic Variants (DGV)KIAA0100 [DGVbeta]
DECIPHERKIAA0100 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA0100 
Mutations
ICGC Data PortalKIAA0100 
TCGA Data PortalKIAA0100 
Broad Tumor PortalKIAA0100
OASIS PortalKIAA0100 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA0100  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA0100
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 KIAA0100
DgiDB (Drug Gene Interaction Database)KIAA0100
DoCM (Curated mutations)KIAA0100 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA0100 (select a term)
intoGenKIAA0100
Cancer3DKIAA0100(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610664   
Orphanet
DisGeNETKIAA0100
MedgenKIAA0100
Genetic Testing Registry KIAA0100
NextProtQ14667 [Medical]
TSGene9703
GENETestsKIAA0100
Target ValidationKIAA0100
Huge Navigator KIAA0100 [HugePedia]
snp3D : Map Gene to Disease9703
BioCentury BCIQKIAA0100
ClinGenKIAA0100
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9703
Chemical/Pharm GKB GenePA142671635
Clinical trialKIAA0100
Miscellaneous
canSAR (ICR)KIAA0100 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA0100
EVEXKIAA0100
GoPubMedKIAA0100
iHOPKIAA0100
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 14:18:49 CET 2017

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