Property Summary

NCBI Gene PubMed Count 17
PubMed Score 58.67
PubTator Score 13.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
non-small cell lung cancer 2798 4.0729244556583E-11
adrenocortical carcinoma 1427 2.33903208668343E-6
ulcerative colitis 2087 2.31278430295088E-5
invasive ductal carcinoma 2950 1.08404549069078E-4
osteosarcoma 7933 3.39079168759894E-4
pancreatic cancer 2300 5.05753068633143E-4
lung cancer 4473 8.14353136566377E-4
Breast cancer 3099 0.0036428106485594
nephrosclerosis 329 0.00622545146473346
ovarian cancer 8492 0.0415757382714576
Disease Target Count Z-score Confidence
Amino acid metabolic disorder 5 0.0 4.0
Disease Target Count
Glutaric aciduria 3 1

Expression

  Differential Expression (10)

Disease log2 FC p
nephrosclerosis -1.232 0.006
osteosarcoma 1.416 0.000
adrenocortical carcinoma -1.773 0.000
non-small cell lung cancer 1.353 0.000
lung cancer 1.400 0.001
ulcerative colitis -1.800 0.000
pancreatic cancer 1.200 0.001
Breast cancer 1.400 0.004
invasive ductal carcinoma 1.040 0.000
ovarian cancer 1.100 0.042

Synonym

Accession Q9HAC7 A4D1W5 B4DR73 Q4KMW4 Q4KMW8 Q4KMZ0 Q8TE00 Q8TEY1
Symbols GA3
ORF19
DERP13
C7orf10

Gene

  Ortholog (1)

Species Source
Mouse OMA Inparanoid

Pathway (1)

Gene RIF (7)

PMID Text
23893049 C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, which is the enzyme that converts glutarate to glutaryl-CoA
22277967 Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18926513 Geneic mapping of GA3 to chromosome 7 and identification of mutations in c7orf10 are reported.

AA Sequence

MPSETHAMLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLG      1 - 70
DLGAEVIKVERPGAGDDTRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENY     71 - 140
VPGKLSAMGLGYEDIDEIAPHIIYCSITGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAM    141 - 210
TDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQA    211 - 280
FKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFE    281 - 350
GSGVPYGPINNMKNVFAEPQVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILK    351 - 420
EVLRYDDRAIGELLSAGVVDQHETH                                                 421 - 445
//

Text Mined References (17)

PMID Year Title
23893049 2014 C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19197348 2009 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
18926513 2008 Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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