AutismKB 2.0

Evidence Details for MAFB


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Basic Information Top
Gene Symbol:MAFB ( KRML,MGC43127 )
Gene Full Name: v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
Band: 20q12
Quick LinksEntrez ID:9935; OMIM: 608968; Uniprot ID:MAFB_HUMAN; ENSEMBL ID: ENSG00000204103; HGNC ID: 6408
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAFB|9935|nucleotide
ATGGCCGCGGAGCTGAGCATGGGGCCAGAGCTGCCCACCAGCCCGCTGGCCATGGAGTATGTCAACGACTTCGACCTGCTCAAGTTCGACGTGAAGAAGGAGCCA
CTGGGGCGCGCGGAGCGTCCGGGCAGGCCCTGCACACGCCTGCAGCCAGCCGGCTCGGTGTCCTCCACACCGCTCAGCACTCCGTGTAGCTCCGTGCCCTCGTCG
CCCAGCTTCAGCCCGACCGAACAGAAGACACACCTCGAGGATCTGTACTGGATGGCGAGCAACTACCAGCAGATGAACCCCGAGGCGCTCAACCTGACGCCCGAG
GACGCGGTGGAAGCGCTCATCGGCTCGCACCCAGTGCCACAGCCGCTGCAAAGCTTCGACAGCTTTCGCGGCGCTCACCACCACCACCATCACCACCACCCTCAC
CCGCACCACGCGTACCCGGGCGCCGGCGTGGCCCACGACGAGCTGGGCCCGCACGCTCACCCGCACCATCACCATCATCACCAAGCGTCGCCGCCGCCGTCCAGC
GCCGCTAGCCCGGCGCAACAGCTGCCCACTAGCCACCCCGGGCCCGGGCCGCACGCGACGGCCTCGGCGACGGCGGCGGGCGGCAACGGCAGCGTGGAGGACCGC
TTCTCCGACGACCAGCTCGTGTCCATGTCCGTGCGCGAGCTGAACCGCCACCTGCGGGGCTTCACCAAGGACGAGGTGATCCGCCTGAAGCAGAAGCGGCGGACC
CTGAAGAACCGGGGCTACGCCCAGTCTTGCAGGTATAAACGCGTCCAGCAGAAGCACCACCTGGAGAATGAGAAGACGCAGCTCATTCAGCAGGTGGAGCAGCTT
AAGCAGGAGGTGTCCCGGCTGGCCCGCGAGAGAGACGCCTACAAGGTCAAGTGCGAGAAACTCGCCAACTCCGGCTTCAGGGAGGCGGGCTCCACCAGCGACAGC
CCCTCCTCTCCCGAGTTCTTTCTGTGA

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>MAFB|9935|protein
MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPLSTPCSSVPSSPSFSPTEQKTHLEDLYWMASNYQQMNPEALNLTPE
DAVEALIGSHPVPQPLQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAHPHHHHHHQASPPPSSAASPAQQLPTSHPGPGPHATASATAAGGNGSVEDR
FSDDQLVSMSVRELNRHLRGFTKDEVIRLKQKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEKLANSGFREAGSTSDS
PSSPEFFL

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top