Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ORAOV1 (oral cancer overexpressed 1)

Written2009-05Lu Jiang, Jinsheng Yu, Qianming Chen
State Key Laboratory of Oral Diseases, West China College of Stomatology, Sichuan University, Chengdu, China (LJ, QC); School of public health, Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, Chicago, IL, USA (JY)

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)TAOS1
Other alias
HGNC (Hugo) ORAOV1
LocusID (NCBI) 220064
Atlas_Id 41611
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 69665564 and ends at 69675397 bp from pter ( according to hg19-Feb_2009)  [Mapping ORAOV1.png]
 
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BORCS5 (12p13.2) / ORAOV1 (11q13.3)DYNC1H1 (14q32.31) / ORAOV1 (11q13.3)ORAOV1 (11q13.3) / FRMD4A (10p13)
ORAOV1 (11q13.3) / FTH1 (11q12.3)ORAOV1 (11q13.3) / NARS2 (11q14.1)ORAOV1 (11q13.3) / ZBTB8B (1p35.1)

DNA/RNA

Note The ORAOV1 gene spans 9.75 Kb genomic DNA and consists of 5 known exons. The coding sequence of ORAOV1 is 414 nucleotides long.
 
  Figure 1 : ORAOV1 gene consists of five exons and spans 9.75 kb of genomic DNA.
Figure 2 : (A) The schematic structures of the ORAOV1 gene and its two transcript variants. ORAOV1 has five exons. The two ORAOV1 splice variants consist of different exon combinations that produce different protein-coding regions. (B) Comparison of ORAOV1 with ORAOV1-A nucleotide sequence. White boxes show amino acid differences.
Transcription So far, there is one reported transcript variant of ORAOV1 caused by alternative exon utilization. The production of transcript variant 1, which is named as ORAOV1-A, is produced by alternative splicing of exon 3. An in-frame stop codon in exon 4 indicates that the ORAOV1 protein isoform 1 may be interrupted at this position. Interestingly, an association between the expression level of this ORAOV1 gene ORAOV1-A and the differentiation degree of oral squamous cell carcinoma has been observed in a Chinese patient cohort.

Protein

Note So far, no study describes the location of ORAOV1 protein in cells or tissues.
Function Apoptosis, but whether it belongs to extrinsic or intrisic pathway is yet unknown.

Implicated in

Note
  
Entity Oral squamous cell carcinoma
Note ORAOV1 gene may be a candidate biomarker for diagnosis and prognosis in oral squamous cell carcinoma (OSCC). This finding was made based on a study using PCR to measure ORAOV1 in 15 healthy oral mucosa tissue samples, 30 OLK tissues samples, and 33 OSCC tissue samples. The authors found that ORAOV1 amplification was significantly associated with larger tumor size, presence of lymph node metastasis, poor histological differentiation and advanced clinical stage. Therefore, they suggested the potential roles of ORAOV1 in oral carcinogenesis. Further studies about the biological functional role of ORAOV1 in OSCC tumorigenesis showed that ORAOV1 plays pivotal roles in the growth and angiogenesis of OSCC. The authors performed a loss-of-function study by using small interfering RNA (siRNA) against ORAOV1 in two OSCC cell lines. They found that the OSCC cells with reduced ORAOV1 showed retarded cell growth in vitro and displayed inhibition in both tumor growth and tumor angiogenesis in vivo. Further analyses reveal that the retarded cell growth is associated with an increase in apoptosis involving the activation of caspase 3-dependent pathway, and a cell cycle arrest at the S-phase with a downregulation of cyclin A, cyclin B1, and CDC2. The suppressed tumor growth in vivo may be attributed to synergistic effect between inhibition in cell growth and suppression of tumor angiogenesis. The latter is most likely due to a suppression of VEGF.
The study of the novel splice variant of ORAOV1, ORAOV1-A, showed that there was an inverse correlation between the expression frequency of ORAOV1-A and the degree of differentiation in OSCC. This result suggested that ORAOV1-A may play a functional role in the tumorigenesis of OSCC, and the ORAOV1-A expression may serve as an adjunctive prognostic indicator for patients with OSCC.
  
  
Entity Esophageal squamous cell carcinoma
Note ORAOV1 is supposed to serve as a new marker for predicting the malignancy of esophageal SCC. This finding was made based on a study using quantitative RT-PCR to examine the ORAOV1 gene expression level in 38 esophageal SCCs. The authors found that the ORAOV1 overexpression correlated with the clinicopathological features of esophageal SCCs, which revealed a significant difference in lymph node metastasis and a trend towards advanced TNM stages.
  

Bibliography

High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications.
Gibcus JH, Kok K, Menkema L, Hermsen MA, Mastik M, Kluin PM, van der Wal JE, Schuuring E.
Hum Genet. 2007 Apr;121(2):187-201. Epub 2006 Dec 15.
PMID 17171571
 
High-resolution mapping of the 11q13 amplicon and identification of a gene, TAOS1, that is amplified and overexpressed in oral cancer cells.
Huang X, Gollin SM, Raja S, Godfrey TE.
Proc Natl Acad Sci U S A. 2002 Aug 20;99(17):11369-74. Epub 2002 Aug 9.
PMID 12172009
 
ORAOV1-A correlates with poor differentiation in oral cancer.
Jiang L, Yang H, Wang Z, Zhou Y, Zhou M, Zeng X, Chen Q.
J Dent Res 2009; 88: 433-438.
PMID 19493886
 
Oral cancer overexpressed 1 (ORAOV1): a regulator for the cell growth and tumor angiogenesis in oral squamous cell carcinoma.
Jiang L, Zeng X, Yang H, Wang Z, Shen J, Bai J, Zhang Y, Gao F, Zhou M, Chen Q.
Int J Cancer. 2008 Oct 15;123(8):1779-86.
PMID 18688849
 
Molecular cytogenetic characterization of the 11q13 amplicon in head and neck squamous cell carcinoma.
Jin C, Jin Y, Gisselsson D, Wennerberg J, Wah TS, Stromback B, Kwong YL, Mertens F.
Cytogenet Genome Res. 2006;115(2):99-106.
PMID 17065789
 
Evolutionary conservation of CCND1-ORAOV1-FGF19-FGF4 locus from zebrafish to human.
Katoh M, Katoh M.
Int J Mol Med. 2003 Jul;12(1):45-50.
PMID 12792807
 
TAOS1, a novel marker for advanced esophageal squamous cell carcinoma.
Komatsu Y, Hibi K, Kodera Y, Akiyama S, Ito K, Nakao A.
Anticancer Res. 2006 May-Jun;26(3A):2029-32.
PMID 16827140
 
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.
Salmon Hillbertz NH, Isaksson M, Karlsson EK, Hellmen E, Pielberg GR, Savolainen P, Wade CM, von Euler H, Gustafson U, Hedhammar A, Nilsson M, Lindblad-Toh K, Andersson L, Andersson G.
Nat Genet. 2007 Nov;39(11):1318-20. Epub 2007 Sep 30.
PMID 17906623
 
Amplifications of TAOS1 and EMS1 genes in oral carcinogenesis: association with clinicopathological features.
Xia J, Chen Q, Li B, Zeng X.
Oral Oncol. 2007 May;43(5):508-14. Epub 2006 Sep 26.
PMID 17005439
 

Citation

This paper should be referenced as such :
Jiang, L ; Yu, J ; Chen, Q
ORAOV1 (oral cancer overexpressed 1)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):409-411.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ORAOV1ID41611ch11q13.html


External links

Nomenclature
HGNC (Hugo)ORAOV1   17589
Cards
AtlasORAOV1ID41611ch11q13
Entrez_Gene (NCBI)ORAOV1  220064  oral cancer overexpressed 1
AliasesTAOS1
GeneCards (Weizmann)ORAOV1
Ensembl hg19 (Hinxton)ENSG00000149716 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149716 [Gene_View]  chr11:69665564-69675397 [Contig_View]  ORAOV1 [Vega]
ICGC DataPortalENSG00000149716
TCGA cBioPortalORAOV1
AceView (NCBI)ORAOV1
Genatlas (Paris)ORAOV1
WikiGenes220064
SOURCE (Princeton)ORAOV1
Genetics Home Reference (NIH)ORAOV1
Genomic and cartography
GoldenPath hg38 (UCSC)ORAOV1  -     chr11:69665564-69675397 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ORAOV1  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblORAOV1 - 11q13.2 [CytoView hg19]  ORAOV1 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIORAOV1 [Mapview hg19]  ORAOV1 [Mapview hg38]
OMIM607224   
Gene and transcription
Genbank (Entrez)AF503940 AK026600 AK125280 AK126490 AK294004
RefSeq transcript (Entrez)NM_153451
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ORAOV1
Cluster EST : UnigeneHs.667996 [ NCBI ]
CGAP (NCI)Hs.667996
Alternative Splicing GalleryENSG00000149716
Gene ExpressionORAOV1 [ NCBI-GEO ]   ORAOV1 [ EBI - ARRAY_EXPRESS ]   ORAOV1 [ SEEK ]   ORAOV1 [ MEM ]
Gene Expression Viewer (FireBrowse)ORAOV1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)220064
GTEX Portal (Tissue expression)ORAOV1
Human Protein AtlasENSG00000149716-ORAOV1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WV07   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WV07  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WV07
Splice isoforms : SwissVarQ8WV07
PhosPhoSitePlusQ8WV07
Domains : Interpro (EBI)Essential_protein_Yae1_N   
Domain families : Pfam (Sanger)Yae1_N (PF09811)   
Domain families : Pfam (NCBI)pfam09811   
Conserved Domain (NCBI)ORAOV1
DMDM Disease mutations220064
Blocks (Seattle)ORAOV1
SuperfamilyQ8WV07
Human Protein Atlas [tissue]ENSG00000149716-ORAOV1 [tissue]
Peptide AtlasQ8WV07
HPRD06245
IPIIPI00102979   IPI00910890   IPI01011762   IPI01012319   IPI01009128   IPI01009626   IPI00856104   IPI01010647   IPI01014509   IPI01014979   IPI01015933   
Protein Interaction databases
DIP (DOE-UCLA)Q8WV07
IntAct (EBI)Q8WV07
FunCoupENSG00000149716
BioGRIDORAOV1
STRING (EMBL)ORAOV1
ZODIACORAOV1
Ontologies - Pathways
QuickGOQ8WV07
Ontology : AmiGOdouble-strand break repair via homologous recombination  molecular_function  cellular_component  nucleotide-excision repair  biological_process  checkpoint clamp complex  intra-S DNA damage checkpoint  mitotic DNA replication checkpoint  site of double-strand break  meiotic DNA integrity checkpoint  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  molecular_function  cellular_component  nucleotide-excision repair  biological_process  checkpoint clamp complex  intra-S DNA damage checkpoint  mitotic DNA replication checkpoint  site of double-strand break  meiotic DNA integrity checkpoint  
NDEx NetworkORAOV1
Atlas of Cancer Signalling NetworkORAOV1
Wikipedia pathwaysORAOV1
Orthology - Evolution
OrthoDB220064
GeneTree (enSembl)ENSG00000149716
Phylogenetic Trees/Animal Genes : TreeFamORAOV1
HOVERGENQ8WV07
HOGENOMQ8WV07
Homologs : HomoloGeneORAOV1
Homology/Alignments : Family Browser (UCSC)ORAOV1
Gene fusions - Rearrangements
Fusion : MitelmanORAOV1/NARS2 [11q13.3/11q14.1]  
Fusion: TCGA_MDACCORAOV1 11q13.3 NARS2 11q14.1 LUAD
Tumor Fusion PortalORAOV1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerORAOV1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ORAOV1
dbVarORAOV1
ClinVarORAOV1
1000_GenomesORAOV1 
Exome Variant ServerORAOV1
ExAC (Exome Aggregation Consortium)ENSG00000149716
GNOMAD BrowserENSG00000149716
Genetic variants : HAPMAP220064
Genomic Variants (DGV)ORAOV1 [DGVbeta]
DECIPHERORAOV1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisORAOV1 
Mutations
ICGC Data PortalORAOV1 
TCGA Data PortalORAOV1 
Broad Tumor PortalORAOV1
OASIS PortalORAOV1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICORAOV1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDORAOV1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ORAOV1
DgiDB (Drug Gene Interaction Database)ORAOV1
DoCM (Curated mutations)ORAOV1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ORAOV1 (select a term)
intoGenORAOV1
NCG5 (London)ORAOV1
Cancer3DORAOV1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607224   
Orphanet
DisGeNETORAOV1
MedgenORAOV1
Genetic Testing Registry ORAOV1
NextProtQ8WV07 [Medical]
TSGene220064
GENETestsORAOV1
Target ValidationORAOV1
Huge Navigator ORAOV1 [HugePedia]
snp3D : Map Gene to Disease220064
BioCentury BCIQORAOV1
ClinGenORAOV1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD220064
Chemical/Pharm GKB GenePA38242
Clinical trialORAOV1
Miscellaneous
canSAR (ICR)ORAOV1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineORAOV1
EVEXORAOV1
GoPubMedORAOV1
iHOPORAOV1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:58:20 CET 2017

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