AutismKB 2.0

Evidence Details for UNC13B


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Basic Information Top
Gene Symbol:UNC13B ( MGC133279,MGC133280,MUNC13,UNC13,Unc13h2,hmunc13 )
Gene Full Name: unc-13 homolog B (C. elegans)
Band: 9p13.3
Quick LinksEntrez ID:10497; OMIM: 605836; Uniprot ID:UN13B_HUMAN; ENSEMBL ID: ENSG00000198722; HGNC ID: 12566
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UNC13B|10497|nucleotide
ATGTCACTGCTCTGCGTGCGCGTTAAAAGGGCCAAATTCCAGGGTTCACCAGATAAATTTAACACATATGTGACCCTGAAAGTACAGAATGTGAAGAGCACAACT
GTAGCAGTTCGTGGTGATCAGCCTTCCTGGGAACAGGATTTCATGTTTGAGATTAGTCGCCTGGACCTGGGTCTAAGTGTGGAGGTATGGAACAAAGGACTGATC
TGGGACACCATGGTGGGGACTGTGTGGATTGCGCTGAAGACTATTCGTCAGTCGGATGAGGAAGGGCCTGGGGAATGGTCCACATTAGAGGCAGAGACGTTAATG
AAAGACGATGAGATCTGTGGAACTAGAAACCCAACTCCTCATAAAATTTTGCTTGATACAAGATTTGAGTTGCCTTTTGATATCCCAGAGGAGGAAGCCAGATAT
TGGACCTACAAATGGGAGCAAATCAATGCCTTGGGAGCTGACAATGAGTATTCTAGTCAAGAAGAAAGCCAGAGGAAGCCATTGCCCACTGCTGCCGCCCAGTGT
TCTTTTGAAGACCCTGATAGTGCCGTCGATGACCGAGATAGTGACTATCGCAGTGAGACCAGCAACAGCTTCCCACCTCCTTACCATACAGCTTCCCAGCCCAAC
GCTTCTGTGCACCAGTTCCCTGTGCCGGTGCGATCGCCACAGCAGCTGCTACTTCAAGGCAGTTCCCGGGACTCTTGTAATGACTCTATGCAAAGTTATGACCTT
GATTATCCAGAGCGGCGGGCTATCAGCCCCACCAGCAGCAGTAGGTATGGCTCCTCCTGTAATGTGAGTCAAGGAAGCTCTCAGCTAAGTGAACTAGACCAGTAT
CACGAACAAGATGACGACCATCGGGAGACGGACTCGATTCATTCTTGCCACAGCTCTCACAGCCTGTCCAGAGATGGCCAAGCAGGTTTTGGAGAACAAGAGAAA
CCCTTGGAGGTGACAGGTCAAGCAGAGAAGGAGGCAGCATGTGAACCCAAGGAGATGAAAGAAGATGCCACAACCCACCCTCCCCCAGATCTGGTGCTGCAAAAA
GACCACTTCCTAGGTCCCCAGGAGAGTTTTCCTGAGGAGAATGCATCTTCACCATTTACCCAAGCCAGAGCACATTGGATCCGAGCAGTTACCAAGGTTCGACTC
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>UNC13B|10497|protein
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLM
KDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPN
ASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEK
PLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNA
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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 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 1 (1) 0 (0) 10 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top