AutismKB 2.0

Evidence Details for FAM120A


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Basic Information Top
Gene Symbol:FAM120A ( C9orf10,DNAPTP1,DNAPTP5,MGC111527,MGC133257,OSSA )
Gene Full Name: family with sequence similarity 120A
Band: 9q22.31
Quick LinksEntrez ID:23196; OMIM: 612265; Uniprot ID:F120A_HUMAN; ENSEMBL ID: ENSG00000048828; HGNC ID: 13247
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM120A|23196|nucleotide
ATGGGCGTGCAGGGCTTCCAGGACTACATCGAGAAGCACTGCCCGAGCGCCGTGGTGCCGGTGGAGCTGCAGAAGCTGGCCCGGGGCAGCCTGGTGGGCGGCGGG
CGGCAGCGGCCCCCGCAGACCCCGCTGCGCCTGCTGGTGGACGCCGACAACTGCCTGCACCGCCTCTACGGCGGCTTCTACACCGACTGGGTCAGCGGCGGCCAG
TGGAACCACATGCTTGGCTACCTGGCGGCGCTGGCCAAGGCCTGCTTCGGCGGCAACATCGAGCTCTTCGTCTTCTTCAACGGCGCGCTCGAGAAGGCCCGGCTG
CACGAGTGGGTCAAGCGGCAGGGCAACGAGCGCCAGACGGCACAGCAGATCGTCAGCCATGTCCAGAACAAGGGCACCCCGCCGCCAAAGGTCTGGTTCCTGCCG
CCCGTCTGCATGGCCCACTGCATCCGCCTGGCGCTCATCCGCTTCCACGTCAAGGTTGCACAGAGCATTGAGGATCACCATCAGGAAGTGATTGGTTTCTGCAGA
GAGAATGGTTTCCATGGCTTGGTTGCGTATGACTCTGATTATGCACTGTGCAACATCCCCTACTATTTCAGTGCCCATGCCCTAAAACTGAGCCGGAACGGGAAA
AGTCTCACCACAAGCCAATATCTGATGCATGAAGTTGCCAAGCAACTGGACCTGAATCCAAATCGTTTTCCTATTTTTGCTGCTCTCTTAGGAAATCACATTCTG
CCTGATGAAGATCTGGCTTCCTTTCACTGGAGTTTACTTGGTCCAGAACATCCACTAGCCTCACTAAAGGTCCGGGCCCACCAGCTGGTCTTGCCACCTTGCGAC
GTAGTGATCAAAGCCGTTGCTGACTATGTACGCAACATTCAGGACACCTCTGACTTGGATGCCATAGCTAAAGATGTTTTCCAGCATTCACAGTCTAGAACAGAT
GACAAAGTTATTCGATTTAAGAGAGCAATTGGATATTATTCAGCGACTAGTAAGCCTATGTCATTTCATCCACCACATTACTTAGCAGCCAGACCCGGTCCGTTT
GGAATGCCTGGGATGGTGCCGCCGCATGTTCCTCCTCAGATGCTCAACATTCCGCAGACCTCTCTGCAAGCAAAGCCCGTGGCCCCACAGGTGCCCAGCCCAGGG
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>FAM120A|23196|protein
MGVQGFQDYIEKHCPSAVVPVELQKLARGSLVGGGRQRPPQTPLRLLVDADNCLHRLYGGFYTDWVSGGQWNHMLGYLAALAKACFGGNIELFVFFNGALEKARL
HEWVKRQGNERQTAQQIVSHVQNKGTPPPKVWFLPPVCMAHCIRLALIRFHVKVAQSIEDHHQEVIGFCRENGFHGLVAYDSDYALCNIPYYFSAHALKLSRNGK
SLTTSQYLMHEVAKQLDLNPNRFPIFAALLGNHILPDEDLASFHWSLLGPEHPLASLKVRAHQLVLPPCDVVIKAVADYVRNIQDTSDLDAIAKDVFQHSQSRTD
DKVIRFKRAIGYYSATSKPMSFHPPHYLAARPGPFGMPGMVPPHVPPQMLNIPQTSLQAKPVAPQVPSPGGAPGQGPYPYSLSEPAPLTLDTSGKNLTEQNSYSN
IPHEGKHTPLYERSSPINPAQSGSPNHVDSAYFPGSSTSSSSDNDEGSGGATNHISGNKIGWEKTGSHSEPQARGDPGDQTKAEGSSTASSGSQLAEGKGSQMGT
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top