Property Summary

NCBI Gene PubMed Count 10
PubMed Score 2.04
PubTator Score 1.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
psoriasis -2.400 2.4e-04
osteosarcoma -3.417 2.0e-09
tuberculosis -1.400 3.1e-07
intraductal papillary-mucinous adenoma (... -1.300 5.2e-03
intraductal papillary-mucinous carcinoma... -1.600 1.8e-03
intraductal papillary-mucinous neoplasm ... -1.200 4.7e-02
colon cancer -1.400 2.2e-04
pancreatic cancer -1.300 2.4e-06
posterior fossa group B ependymoma 1.100 2.1e-04
Breast cancer -1.400 6.2e-07
progressive supranuclear palsy -1.200 5.6e-03
ulcerative colitis -1.600 2.5e-06
ovarian cancer -2.100 4.0e-12

Gene RIF (1)

PMID Text
24026985 Identification of BBIP1 as the 18th BBS gene (BBS18), BBSome assembly may represent a unifying pathomechanism for Bardet-Biedl syndrome.

AA Sequence

MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMH      1 - 70
QAAQNTIRQQEMAEKDQRQITH                                                     71 - 92
//

Text Mined References (9)

PMID Year Title
24026985 2014 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
20603001 2010 The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
19549489 2009 The BBSome.
19081074 2008 A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.