ENOSF1 (enolase superfamily member 1)

2014-08-01  

Identity

HGNC
LOCATION
18p11.32
LOCUSID
ALIAS
FUCD,RTS,TYMSAS
FUSION GENES

Other Information

Locus ID:

NCBI: 55556
MIM: 607427
HGNC: 30365
Ensembl: ENSG00000132199

Variants:

dbSNP: 55556
ClinVar: 55556
TCGA: ENSG00000132199
COSMIC: ENOSF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132199ENST00000340116A0A3F2YNX7
ENSG00000132199ENST00000383578Q7L5Y1
ENSG00000132199ENST00000580982J3QL81
ENSG00000132199ENST00000581475J3QSB6
ENSG00000132199ENST00000583771R4GNF8
ENSG00000132199ENST00000584453J3QL99
ENSG00000132199ENST00000585128X6RM24
ENSG00000132199ENST00000647584Q7L5Y1

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Fructose and mannose metabolismKEGGhsa00051

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD16130010, 18322994
PA445048NauseaDiseaseVariantAnnotationassociatedPD28347776
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989
PA446051VomitingDiseaseVariantAnnotationassociatedPD28347776
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPD16130010, 18322994
PA448771capecitabineChemicalClinicalAnnotation, VariantAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989, 28347776
PA450428methotrexateChemicalClinicalAnnotationassociatedPD16130010, 18322994

References

Pubmed IDYearTitleCitations
205657742010Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.21
246470072015A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.21
186356822008Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.20
204584362010Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.10
256779012015Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.10
204854442010Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.9
246973292014Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.5
191901362009Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.2
301345982018rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.2
184279772008High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.1

Citation

Dessen P

ENOSF1 (enolase superfamily member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54284/enosf1