Property Summary

NCBI Gene PubMed Count 22
Grant Count 4
Funding $697,908.57
PubMed Score 23.20
PubTator Score 11.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
posterior fossa group B ependymoma 2.100 0.000
subependymal giant cell astrocytoma 1.861 0.010
Endometriosis -1.405 0.046
lung carcinoma 1.700 0.000
spina bifida -1.018 0.039
Pick disease -1.100 0.001
ovarian cancer -1.800 0.000

Gene RIF (6)

PMID Text
20801516 Observational study of genetic testing. (HuGE Navigator)
20451172 A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
19402160 small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
19402160 Observational study of gene-disease association. (HuGE Navigator)
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14520415 A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium

AA Sequence

MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVD      1 - 70
QEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIR     71 - 140
TPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIH    141 - 210
LEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQ    211 - 280
QEMVDTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNT    281 - 350
HVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEE    351 - 420
EAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHM    421 - 490
YEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML                       491 - 541
//

Text Mined References (23)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22302990 2012 Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
22072986 2011 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20451172 2010 A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
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