AutismKB 2.0

Evidence Details for BBX


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Basic Information Top
Gene Symbol:BBX ( HBP2,HSPC339,MDS001 )
Gene Full Name: bobby sox homolog (Drosophila)
Band: 3q13.12
Quick LinksEntrez ID:56987; OMIM: NA; Uniprot ID:BBX_HUMAN; ENSEMBL ID: ENSG00000114439; HGNC ID: 14422
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BBX|56987|nucleotide
ATGAAAGGCAGTAATAGAAATAAGGATCATTCAGCAGAAGGAGAAGGGGTTGGAAAACGACCAAAACGAAAGTGTCTTCAGTGGCATCCATTGCTAGCAAAGAAA
CTTCTTGATTTTTCAGAAGAGGAAGAAGAGGAAGACGAAGAGGAGGATATTGATAAGGTTCAACTTCTTGGGGCCGATGGCCTAGAGCAAGATGTTGGTGAAACT
GAAGATGATGAATCACCAGAGCAGCGAGCCCGGAGACCAATGAATGCATTTCTTTTATTTTGCAAACGCCATCGCTCTCTTGTACGTCAGGAACACCCCAGGCTT
GATAACCGAGGTGCTACCAAGATACTAGCTGATTGGTGGGCTGTTCTTGATCCAAAGGAAAAGCAGAAATACACAGACATGGCCAAGGAGTATAAGGATGCATTT
ATGAAAGCAAATCCTGGCTACAAATGGTGTCCTACCACAAACAAGCCTGTGAAATCCCCAACACCCACTGTCAATCCACGAAAGAAACTTTGGGCCTTCCCATCT
GACTCTTCAAGAGACTTGCCAAGCCCCAAGAAAGCAAAGACTGAAGAAATGCCTCAGCTTAACTTTGGAATGGCTGATCCTACTCAAATGGGAGGCCTGAGTATG
CTGCTGTTAGCTGGAGAACATGCTCTTGGCACACCAGAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTG
TTTCAGTTTGCCGAGATATCTTCAAGTACGTCCCACTCTGATGCTTCTACAAAGCAGTGTCAAACATCTGCCTTGTTTCAGTTTGCAGAGATTTCTTCAAACACT
TCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGATGTGCCTGGCATCAGAAGGGATGAAAATGGAAGAATCA
AAGCTAATAAAAGCAAAAGAATCCGATGGTGGAAGAATTAAAGAATTAGAGAAGGGAAAGGAAGAAAAAGAAATTAAAATGGAGAAAACAGATGAAACTAGGTTA
CAGAAGGAAGCAGAATTTGAAAAATCGGCTAAGGAAAATTTAAGAGATTCTAAGGAATTGAGAAATTTTGAGGCATTGCAAATAGATGACATAATGGCTATAAAA
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>BBX|56987|protein
MKGSNRNKDHSAEGEGVGKRPKRKCLQWHPLLAKKLLDFSEEEEEEDEEEDIDKVQLLGADGLEQDVGETEDDESPEQRARRPMNAFLLFCKRHRSLVRQEHPRL
DNRGATKILADWWAVLDPKEKQKYTDMAKEYKDAFMKANPGYKWCPTTNKPVKSPTPTVNPRKKLWAFPSDSSRDLPSPKKAKTEEMPQLNFGMADPTQMGGLSM
LLLAGEHALGTPEVSSGTCRPDVSESPELRQKSPLFQFAEISSSTSHSDASTKQCQTSALFQFAEISSNTSQLGGAEPVKRCGKSALFQLAEMCLASEGMKMEES
KLIKAKESDGGRIKELEKGKEEKEIKMEKTDETRLQKEAEFEKSAKENLRDSKELRNFEALQIDDIMAIKMEDPKEIRKEELEEDHKCSHFPDFSYSASSKIIIS
DVPSRKDHMCHPHGIMIIEDPAALNKPEKLKKKKKKSKMDRHGNDKSTPKKTCKKRQSSESDIESVIYTIEAVAKGDWGIEKLGDTPRKKVRTSSSGKGSILDAK
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top