Property Summary

NCBI Gene PubMed Count 44
Grant Count 9
R01 Count 9
Funding $2,891,106
PubMed Score 42.55
PubTator Score 70.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma 2.248 0.007
posterior fossa group A ependymoma 2.300 0.000
group 3 medulloblastoma -1.600 0.006
medulloblastoma, large-cell -1.200 0.006
pilocytic astrocytoma 1.500 0.000
nasopharyngeal carcinoma -1.500 0.000

Gene RIF (34)

PMID Text
26604660 Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy.
25081284 Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
24926691 Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis.
24801599 This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes.
24311932 This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy.
22261655 Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity.
21887843 analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
21242781 CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2.
20539220 CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients.
19844255 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLM      1 - 70
EPAWHVWTTLSQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPR     71 - 140
GAISSEAVCKPLCARQSFTLAREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRS    141 - 210
REQTAKALARDNGIVLGTNGTWVEADPGLRVVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREP    211 - 280
LAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFKTSSRNALNVSQAWRHALPFAKIRRVQELCA    281 - 350
GALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN                             351 - 395
//

Text Mined References (45)

PMID Year Title
26604660 2015 Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.
25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
25081284 2014 Macular corneal dystrophy and associated corneal thinning.
24926691 2014 Phenotype and genotype analysis in patients with macular corneal dystrophy.
24801599 2014 TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.
24311932 2013 A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.
22261655 2012 Molecular genetic analysis of macular corneal dystrophy patients from North India.
21887843 2011 Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.
21242781 2011 Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.
20539220 2010 Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
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