Property Summary

NCBI Gene PubMed Count 12
PubMed Score 7.59
PubTator Score 10.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
osteosarcoma 7933 8.49372286098436E-5
Disease Target Count Z-score Confidence
Glaucoma 135 4.65 2.3
Disease Target Count Z-score Confidence
Iridogoniodysgenesis syndrome 8 4.262 2.1
Disease Target Count
Glaucoma 1, open angle, F 1

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.020 0.000

Synonym

Accession Q8WXI3 A0AVH0 Q6ZUL6 ASB-10
Symbols GLC1F

Gene

  Ortholog (9)

Gene RIF (6)

PMID Text
26713451 Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population
23901248 ASB10 may play a role in ubiquitin-mediated degradation pathways in tabecular meshwork cells.
22798626 non-synonymous mutations in ASB10 do not cause Mendelian forms of primary open angle glaucoma
22156576 Variants in ASB10 are associated with open-angle glaucoma.
20309402 Observational study of gene-disease association. (HuGE Navigator)
20309402 These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of normal tension glaucoma.

AA Sequence

MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPGPIVTRTASGPALAFWQAVLAGDVGCV      1 - 70
SRILADSSTGLAPDSVFDTSDPERWRDFRFNIRALRLWSLTYEEELTTPLHVAASRGHTEVLRLLLRRRA     71 - 140
RPDSAPGGRTALHEACAAGHTACVHVLLVAGADPNIADQDGKRPLHLCRGPGTLECAELLLRFGARVDGR    141 - 210
SEEEEETPLHVAARLGHVELADLLLRRGACPDARNAEGWTPLLAACDVRCQSITDAEATTARCLQLCSLL    211 - 280
LSAGADADAADQDKQRPLHLACRRGHAAVVELLLSCGVSANTMDYGGHTPLHCALQGPAAALAQSPEHVV    281 - 350
RALLNHGAVRVWPGALPKVLERWSTCPRTIEVLMNTYSVVQLPEEAVGLVTPETLQKHQRFYSSLFALVR    351 - 420
QPRSLQHLSRCALRSHLEGSLPQALPRLPLPPRLLRYLQLDFEGVLY                           421 - 467
//

Text Mined References (13)

PMID Year Title
26713451 2015 Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.
23901248 2013 Ankyrin repeat and suppressor of cytokine signaling box containing protein-10 is associated with ubiquitin-mediated degradation pathways in trabecular meshwork cells.
22798626 2012 Analysis of ASB10 variants in open angle glaucoma.
22156576 2012 Variants in ASB10 are associated with open-angle glaucoma.
20309402 2010 Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16325183 2005 ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
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