AutismKB 2.0

Evidence Details for FAM40B


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Basic Information Top
Gene Symbol:FAM40B ( - )
Gene Full Name: family with sequence similarity 40, member B
Band: 7q32.1
Quick LinksEntrez ID:57464; OMIM: NA; Uniprot ID:FA40B_HUMAN; ENSEMBL ID: ENSG00000128578; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM40B|57464|nucleotide
ATGGAGGACCCCGCCGCGCCTGGGACCGGGGGCCCGCCCGCAAATGGCAATGGCAACGGCGGCGGCAAAGGGAAGCAGGCGGCGCCCAAGGGCCGCGAAGCGTTC
CGAAGCCAGCGGCGGGAGTCAGAGGGCTCTGTGGACTGTCCCACTCTGGAGTTTGAGTATGGAGATGCAGATGGGCATGCAGCCGAGTTGTCAGAATTGTATAGT
TACACTGAGAACCTGGAATTCACCAATAACAGGAGGTGCTTTGAAGAAGATTTCAAGACTCAAGTGCAGGGCAAGGAATGGCTGGAGTTGGAAGAAGATGCCCAA
AAGGCCTATATAATGGGACTCTTGGACCGGCTAGAGGTGGTCAGTAGGGAACGGCGGCTGAAGGTGGCCCGGGCTGTTCTCTACCTGGCCCAAGGTACTTTTGGG
GAATGTGATTCAGAGGTCGATGTGCTACACTGGTCCAGGTACAACTGCTTCCTGCTGTATCAGATGGGGACCTTCTCCACCTTCCTGGAGCTACTCCACATGGAA
ATTGACAACAGCCAGGCCTGTAGCAGTGCCCTTCGGAAACCAGCTGTCTCCATAGCTGATAGCACAGAGCTCAGGGTGCTGCTGAGTGTTATGTACCTAATGGTG
GAAAATATTCGCCTGGAGCGAGAGACAGACCCCTGTGGGTGGAGAACAGCCCGGGAGACCTTCCGCACTGAATTAAGCTTCTCCATGCATAATGAGGAGCCTTTT
GCCCTTTTACTCTTCTCCATGGTTACCAAGTTCTGCAGTGGCCTGGCTCCTCACTTCCCCATAAAGAAGGTCCTGCTCCTGCTCTGGAAGGTGGTCATGTTTACC
CTCGGTGGATTTGAGCATCTGCAGACTCTCAAAGTACAGAAGCGGGCAGAATTGGGCCTGCCTCCACTGGCTGAAGACAGTATCCAGGTGGTGAAGAGCATGCGT
GCTGCCTCCCCGCCCTCTTACACTCTTGACCTGGGAGAGTCTCAGCTGGCACCCCCACCCTCCAAGCTGCGAGGCCGCCGTGGCTCTCGAAGGCAACTCCTCACT
AAGCAGGACAGCCTGGACATCTACAATGAAAGGGATCTCTTCAAGACTGAGGAGCCCGCCACAGAGGAGGAAGAGGAGTCTGCTGGTGATGGAGAACGAACCTTG
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>FAM40B|57464|protein
MEDPAAPGTGGPPANGNGNGGGKGKQAAPKGREAFRSQRRESEGSVDCPTLEFEYGDADGHAAELSELYSYTENLEFTNNRRCFEEDFKTQVQGKEWLELEEDAQ
KAYIMGLLDRLEVVSRERRLKVARAVLYLAQGTFGECDSEVDVLHWSRYNCFLLYQMGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMV
ENIRLERETDPCGWRTARETFRTELSFSMHNEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMR
AASPPSYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPPPPSQAPLSAERVAFPKGLPW
APKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIKNEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILL
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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) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Linkage Studies Top