AutismKB 2.0

Evidence Details for BBS5


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Basic Information Top
Gene Symbol:BBS5 ( - )
Gene Full Name: Bardet-Biedl syndrome 5
Band: 2q31.1
Quick LinksEntrez 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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>BBS5|129880|protein
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTR
FEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIK
IRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPV
FSEELGLAIEKLKDGFTLQGLWEVMS

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Evidence summary Top

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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 Top
Genome-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 Top
Linkage Studies Top