AutismKB 2.0

Evidence Details for CYB5B


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Basic Information Top
Gene Symbol:CYB5B ( CYB5-M,CYPB5M,DKFZp686M0619,OMB5 )
Gene Full Name: cytochrome b5 type B (outer mitochondrial membrane)
Band: 16q22.1
Quick LinksEntrez ID:80777; OMIM: 611964; Uniprot ID:CYB5B_HUMAN; ENSEMBL ID: ENSG00000103018; HGNC ID: 24374
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYB5B|80777|nucleotide
ATGTCCGGTTCAATGGCGACTGCGGAAGCTAGCGGCAGCGATGGGAAAGGGCAGGAAGTCGAGACCTCAGTCACCTATTACCGGTTGGAGGAGGTGGCAAAGCGC
AACTCCTTGAAGGAACTGTGGCTTGTGATCCATGGGCGAGTCTACGATGTCACCCGCTTCCTCAACGAGCACCCTGGAGGAGAAGAGGTTCTGCTGGAACAAGCT
GGTGTAGATGCAAGTGAAAGCTTTGAAGATGTAGGACACTCTTCTGATGCCAGAGAAATGCTAAAGCAGTACTACATTGGTGATATCCATCCGAGTGACCTTAAA
CCTGAAAGTGGTAGCAAGGACCCTTCAAAAAATGATACATGCAAAAGTTGCTGGGCATATTGGATTTTACCCATCATAGGCGCTGTTCTCTTAGGTTTCCTGTAC
CGCTACTACACATCGGAAAGCAAATCCTCCTGA






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>CYB5B|80777|protein
MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLK
PESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS



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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top