Evidence Details for BBS5
Basic Information Top
| Gene Symbol: | BBS5 ( - ) |
|---|---|
| Gene Full Name: | Bardet-Biedl syndrome 5 |
| Band: | 2q31.1 |
| Quick Links | Entrez ID:129880; OMIM: 603650; Uniprot ID:BBS5_HUMAN; ENSEMBL ID: ENSG00000163093,ENSG00000251569; HGNC ID: 970 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BBS5|129880|nucleotide
ATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCAGCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGAT
TCCATTGAAGACACCAAAGGAAATAATGGAGATAGAGGTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCACTCTTTGGCATTATCAAGAGTCAATGTTTCT
GTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCTAAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGT
TTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAGAGCTTATGAAACTTCTAAAATGTATCGTGATTTT
AAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAGGGC
AATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGTATACCATATCTGCAAATTCGTTCAATAAAG
ATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAGAGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAA
TCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAGCCCCAGCCGCTCGAAGCTCTGACA
GTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTGGCTTATTTTGCTGATGGCAATAAGCAACAAGATCGTGAACCTGTA
TTTTCAGAAGAACTGGGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATGAGTTGA
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ATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCAGCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGAT
TCCATTGAAGACACCAAAGGAAATAATGGAGATAGAGGTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCACTCTTTGGCATTATCAAGAGTCAATGTTTCT
GTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCTAAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGT
TTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAGAGCTTATGAAACTTCTAAAATGTATCGTGATTTT
AAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAGGGC
AATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGTATACCATATCTGCAAATTCGTTCAATAAAG
ATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAGAGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAA
TCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAGCCCCAGCCGCTCGAAGCTCTGACA
GTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTGGCTTATTTTGCTGATGGCAATAAGCAACAAGATCGTGAACCTGTA
TTTTCAGAAGAACTGGGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATGAGTTGA
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>BBS5|129880|protein
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTR
FEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIK
IRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPV
FSEELGLAIEKLKDGFTLQGLWEVMS
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MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTR
FEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIK
IRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPV
FSEELGLAIEKLKDGFTLQGLWEVMS
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 1 (1) | 0 (0) | 2 (4) | 0 (0) | 2 (2) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 10 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Kuo PH, 2015_1 | Discovery | Affymetrix SNP array 6.0 | 597 (-) |  | | ASD | - - |
- | 1595 (-) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | | | autism with FMR1-FM | autism | 15 (-) |
1.11 | Up | 0.000007 | |
| ||||||||||||
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | | | autism with dup(15q) | autism | 15 (-) |
1.16 | Up | 0.000007 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.