Property Summary

NCBI Gene PubMed Count 17
Grant Count 3
R01 Count 3
Funding $288,776
PubMed Score 15.46
PubTator Score 18.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.173 0.031
ovarian cancer -1.500 0.000

Gene RIF (14)

PMID Text
26544938 Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency.
26166082 PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
25631766 p.C312W fsX19 mutation causative of autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment
22617256 Missense mutation in PJVK causes progressive hearing loss.
21935370 OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
21696384 a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population
20739942 Observational study of genotype prevalence. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19160860 failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 or any other deafness-associated mutations in the whole DFNB59 gene in this family
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AA Sequence

MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISA      1 - 70
GISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINF     71 - 140
DHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFS    141 - 210
VFELFIYLDGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDK    211 - 280
PLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKR    281 - 350
MK                                                                        351 - 352
//

Text Mined References (16)

PMID Year Title
26544938 2015 Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
26166082 2015 Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
25631766 2015 Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
22617256 2012 A p.C343S missense mutation in PJVK causes progressive hearing loss.
21935370 2011 Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
21696384 2012 High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
20739942 2010 Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19160860 2008 [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].
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