AutismKB 2.0

Evidence Details for CYBB


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Basic Information Top
Gene Symbol:CYBB ( CGD,GP91-1,GP91-PHOX,GP91PHOX,NOX2,p91-PHOX )
Gene Full Name: cytochrome b-245, beta polypeptide
Band: Xp21.1-p11.4
Quick LinksEntrez ID:1536; OMIM: 300481; Uniprot ID:CY24B_HUMAN; ENSEMBL ID: ENSG00000165168; HGNC ID: 2578
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYBB|1536|nucleotide
ATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTCTGGTTTGGCTGGGGTTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATATT
CCACCTAAGTTCTTTTACACAAGAAAACTTCTTGGGTCAGCACTGGCACTGGCCAGGGCCCCTGCAGCCTGCCTGAATTTCAACTGCATGCTGATTCTCTTGCCA
GTCTGTCGAAATCTGCTGTCCTTCCTCAGGGGTTCCAGTGCGTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGTGGCA
TGGATGATTGCACTTCACTCTGCGATTCACACCATTGCACATCTATTTAATGTGGAATGGTGTGTGAATGCCCGAGTCAATAATTCTGATCCTTATTCAGTAGCA
CTCTCTGAACTTGGAGACAGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATAAAGAACCCTGAAGGAGGCCTGTACCTGGCTGTGACCCTGTTGGCA
GGCATCACTGGAGTTGTCATCACGCTGTGCCTCATATTAATTATCACTTCCTCCACCAAAACCATCCGGAGGTCTTACTTTGAAGTCTTTTGGTACACACATCAT
CTCTTTGTGATCTTCTTCATTGGCCTTGCCATCCATGGAGCTGAACGAATTGTACGTGGGCAGACCGCAGAGAGTTTGGCTGTGCATAATATAACAGTTTGTGAA
CAAAAAATCTCAGAATGGGGAAAAATAAAGGAATGCCCAATCCCTCAGTTTGCTGGAAACCCTCCTATGACTTGGAAATGGATAGTGGGTCCCATGTTTCTGTAT
CTCTGTGAGAGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCATCACCAAGGTGGTCACTCACCCTTTCAAAACCATCGAGCTACAGATGAAGAAGAAG
GGGTTCAAAATGGAAGTGGGACAATACATTTTTGTCAAGTGCCCAAAGGTGTCCAAGCTGGAGTGGCACCCTTTTACACTGACATCCGCCCCTGAGGAAGACTTC
TTTAGTATCCATATCCGCATCGTTGGGGACTGGACAGAGGGGCTGTTCAATGCTTGTGGCTGTGATAAGCAGGAGTTTCAAGATGCGTGGAAACTACCTAAGATA
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>CYBB|1536|protein
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVA
WMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHH
LFVIFFIGLAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKK
GFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIAS
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top