AutismKB 2.0

Evidence Details for IDH3B


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Basic Information Top
Gene Symbol:IDH3B ( FLJ11043,H-IDHB,MGC903,RP46 )
Gene Full Name: isocitrate dehydrogenase 3 (NAD+) beta
Band: 20p13
Quick LinksEntrez ID:3420; OMIM: 604526; Uniprot ID:IDH3B_HUMAN; ENSEMBL ID: ENSG00000101365; HGNC ID: 5385
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IDH3B|3420|nucleotide
ATGGCGGCATTGAGCGGAGTCCGCTGGCTGACCCGAGCGCTGGTCTCCGCCGGGAACCCTGGGGCATGGAGAGGTCTGAGTACCTCGGCCGCGGCGCACGCTGCA
TCGCGGAGCCAGGCCGAGGACGTGAGGGTGGAGGGCTCCTTTCCCGTGACCATGCTTCCGGGAGACGGTGTGGGGCCTGAGCTGATGCACGCCGTCAAGGAGGTG
TTCAAGGCTGCCGCTGTCCCAGTGGAGTTCCAGGAGCACCACCTGAGTGAGGTGCAGAATATGGCATCTGAGGAGAAGCTGGAGCAGGTGCTGAGTTCCATGAAG
GAGAACAAAGTGGCCATCATTGGAAAGATTCATACCCCGATGGAGTATAAGGGGGAGCTAGCCTCCTATGATATGCGGCTGAGGCGTAAGTTGGACTTATTTGCC
AACGTAGTCCATGTGAAGTCACTTCCTGGGTATATGACTCGGCACAACAATCTAGACCTGGTGATCATTCGAGAGCAGACAGAAGGGGAGTACAGCTCTCTGGAA
CATGAGAGTGCAAGGGGTGTGATTGAGTGTTTGAAGATTGTCACACGAGCCAAGTCTCAGCGGATTGCAAAGTTCGCCTTTGACTATGCCACCAAGAAGGGGCGG
GGCAAGGTCACTGCTGTCCACAAGGCCAACATCATGAAACTTGGGGATGGGTTGTTCCTGCAGTGCTGTGAGGAAGTTGCTGAACTGTACCCCAAAATCAAATTT
GAGACAATGATCATAGACAACTGCTGCATGCAGCTGGTGCAGAATCCTTACCAGTTTGATGTGCTTGTGATGCCCAATCTCTATGGGAACATTATTGACAATCTG
GCTGCTGGCCTGGTTGGGGGAGCTGGTGTGGTCCCTGGTGAGAGCTATAGTGCAGAATACGCAGTCTTTGAGACGGGTGCCCGGCACCCATTTGCCCAGGCAGTG
GGCAGGAATATAGCCAATCCCACGGCCATGCTGCTGTCGGCTTCCAACATGCTGCGGCATCTTAATCTTGAGTATCACTCCAGCATGATCGCAGATGCGGTGAAG
AAGGTGATCAAAGTTGGCAAGGTGCGGACTCGAGACATGGGCGGCTACAGCACCACAACCGACTTCATCAAGTCTGTCATCGGTCACCTGCAGACTAAAGGGAGC
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>IDH3B|3420|protein
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAAVPVEFQEHHLSEVQNMASEEKLEQVLSSMK
ENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPGYMTRHNNLDLVIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGR
GKVTAVHKANIMKLGDGLFLQCCEEVAELYPKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLYGNIIDNLAAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAV
GRNIANPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKVRTRDMGGYSTTTDFIKSVIGHLQTKGS

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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 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top