Property Summary

NCBI Gene PubMed Count 28
PubMed Score 11.08
PubTator Score 11.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
Rheumatoid Arthritis 1.400 2.9e-02
malignant mesothelioma -1.700 6.0e-07
astrocytic glioma -2.300 3.1e-03
oligodendroglioma -1.800 4.1e-02
glioblastoma -2.100 1.1e-06
posterior fossa group A ependymoma -1.800 9.0e-09
atypical teratoid / rhabdoid tumor -2.200 1.8e-05
medulloblastoma -1.300 2.4e-03
medulloblastoma, large-cell -1.900 4.0e-06
adult high grade glioma -1.600 2.2e-03
pilocytic astrocytoma -1.100 3.5e-03
Pick disease -1.200 2.2e-03
ovarian cancer -1.100 4.4e-03
cystic fibrosis and chronic rhinosinusit... -1.101 1.5e-02

Gene RIF (7)

PMID Text
25553308 BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary.
20801516 Observational study of genetic testing. (HuGE Navigator)
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)
19093007 This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family.
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12567324 A novel Bardet-Biedl syndrome protein is identified anad characterized.

AA Sequence

MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLE      1 - 70
LGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHY     71 - 140
YLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFG    141 - 210
TSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLR    211 - 280
FDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELE    281 - 350
HLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV    351 - 420
DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKP    421 - 490
LSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGECVTFYFQNTFLDTQLESTYRK    491 - 560
GEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALK    561 - 630
ELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEIL    631 - 700
DSYDQNALISFFDAA                                                           701 - 715
//

Text Mined References (33)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
25553308 2015 Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
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.
21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20603001 2010 The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
20195357 2010 A comprehensive resource of interacting protein regions for refining human transcription factor networks.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
19093007 2008 A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
19077438 2009 Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
18762586 2008 Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
18000879 2008 Novel interaction partners of Bardet-Biedl syndrome proteins.
17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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.
12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.