AutismKB 2.0

Evidence Details for FAM47A


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Basic Information Top
Gene Symbol:FAM47A ( MGC27003 )
Gene Full Name: family with sequence similarity 47, member A
Band: Xp21.1
Quick LinksEntrez ID:158724; OMIM: NA; Uniprot ID:FA47A_HUMAN; ENSEMBL ID: ENSG00000185448; HGNC ID: 29962
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM47A|158724|nucleotide
ATGGGGGACCAGAGGCTGCAGGACTGGCTGAGGTCCCCGGGCATGGACTCCAAGCCCTGGTACTGTAACAAACGGCCTTCCAAGTGCTTCGCGAAGTGCAAGCAC
AGGCGCCTGAGGTTCCCACCCATGGACACCCAGAACTGGGTATTTGTGAAGGAGGGCATGGACGACTTCCGCTACGGCTGTCCGTCTCCCGAAGATACTCTCGTT
TGTCGCCGTGACGAGTTTTTACTCCCCAAAATATCTCTCAGAGGTCCCCAAGCTGACCCCAAAAGCGGGCAGAAAAAGCTGCTCAAGAAAGCGGCCCTATTTTCC
AAGCTCTCTCCAGCCCAGCTAGCACGGAAGGCGTTCGTAGAGCAAGTGGAAGCCCAGCTAATGGCCAAGCATCCCTTGGCCATGTACCCCAATCTGGGAGAAGAT
ATGCCTCCAGATCTCCTACTACAGGTGCTGAAACACCTGGATCCTGAGAGGGAGCTGGAGGACGCTTGGGCTTGTTGTGAGACCCAGGAGAAGACAACAGAGGTA
CCCACTGAGCCTGGTAAACATCCCTGTGGGGAATTCTGCCTGAAGCCTCCCGAGACTCCGGTGTCCCATCTCCTCCCAGAGCCTCCCGAGACTGGAGTGTCCCAT
CTAAGCCCGGAGCCTCCCAAGACTCCGGTGTCCAGTCTCCGCCCGGAGCCTCCTGAGACTGGAGTGTCCCATCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCC
CATATCCGCCCGGGGCCTCCCATCACTCGTCGGAGATCCAGTCTCCTACGACAGCTGCTGAAACTGGATTCTGAGAGGAAGCTGGAAGACGCACGGGCTCCTTGT
GAGGGCCGGGAGAAGACAACTGACGAACCCACAGAGCCTGGTAAATACCCTTGTGGGAAATTCTGTCCTCGGCCTTTCGAGACTCCACTGTCCCATCTCCGCCAG
GAGCCTCCCAAGACTCCGGTGTCCAGTCTCCGCCCGGAGCCTCCGGAGACTGGAGAGTCCCATCTCCGCCTAGAGCATTCCAAGACTCGTCGGGGGTCCAGTCTC
CGCTCGGAGCCTTCCGAGACTGGAGTGTCCCGTCTCCGCCTAGCGCCTCCCAAGACTCGTCGGGGGTCCAGTCTCCACGCGGAGCCTTCCAAGACTGGAGTGTCC
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>FAM47A|158724|protein
MGDQRLQDWLRSPGMDSKPWYCNKRPSKCFAKCKHRRLRFPPMDTQNWVFVKEGMDDFRYGCPSPEDTLVCRRDEFLLPKISLRGPQADPKSGQKKLLKKAALFS
KLSPAQLARKAFVEQVEAQLMAKHPLAMYPNLGEDMPPDLLLQVLKHLDPERELEDAWACCETQEKTTEVPTEPGKHPCGEFCLKPPETPVSHLLPEPPETGVSH
LSPEPPKTPVSSLRPEPPETGVSHLRPEPPETGVSHIRPGPPITRRRSSLLRQLLKLDSERKLEDARAPCEGREKTTDEPTEPGKYPCGKFCPRPFETPLSHLRQ
EPPKTPVSSLRPEPPETGESHLRLEHSKTRRGSSLRSEPSETGVSRLRLAPPKTRRGSSLHAEPSKTGVSHLSPEPPKTEVSHLHPVPPKTGVCHLRLEPPDTSQ
VSNLLLYILKVLDSGRTLKDVWDRCEARVKKTKEPTEPHKSPCGEPCLQPPETQVSHPHPEHPKTRRRSSLHSQPPKTRRTSSLRSEPPKTRRTSSLRSEPPKTR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top