AutismKB 2.0

Evidence Details for FAM120C


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Basic Information Top
Gene Symbol:FAM120C ( CXorf17,FLJ20506,FLJ43676,ORF34 )
Gene Full Name: family with sequence similarity 120C
Band: Xp11.22
Quick LinksEntrez ID:54954; OMIM: 300741; Uniprot ID:F120C_HUMAN; ENSEMBL ID: ENSG00000184083; HGNC ID: 16949
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM120C|54954|nucleotide
ATGGGTGTCCAGGGCTTCCAAGAGTTCCTGGAGAAGCGCTGTCCCGGGGCCGTGGTGCCCGTGGACCTCCTAAAACTCGCGCGCACGGTCTCGCGCCAGCAGCAG
CAGCAGCACTTGCACCGCCAGCTGCCGCCGACTGCAGCCCTAGCGCCCGGGGCTCCACGCGCCGCCAGGGGCTCCGTGCCTCTGCAACCGCCGCTTCCGCCCGCT
GCCTTGGGTGCCTACTCCGGGGGCGCGGGGCCGATTCGGCACCATCACCCCGCTCACCACTTCCACCATCATGGCCAAGCGCAGCCCGGGCTGCACCCTCCGCTG
CCGCCGCCGCCGCCCCCTCAGCTGCCCGGGGCCCGGGTGCTGGTGGACGCCGGCTCGGCGCTGCCGCGGCTCTATGGCGGCTACCAGACGGATTGGGTGTGTGGC
GGCCAATGGAACGCCATGCTGGGCTACTTGTCAGCGCTGTGCCAGGCTTGTGCCTATCCTGGCGGCGACGGCCTGGAGCTCGTGGTCATGTTCCCGGGGGGCCTG
GGCAAGGACCGGCTGGCCGAGTGGGGCCGTCGGTGCCAGGCCGAGCGGCAGACAGCGCAACTGATCGTGGGACACGTGGGCAACAAGGGCACCCCTCCACCGCGG
GCCTGGTTCCTGCCACCGGCCTGCCTGAGCCACTGCGTGAGGCTAGCACTCATCCGCTTCCGGGTCAAGGTCTTTCAGAGCCTTGAAGACCACCATTTGGAAGTG
GTGGCGTTTTTCAGGGAAAATGGCTTCCATGGCCTTCTTGCCCATGACTCCGAGTATGCTCTCTACAATATTCCCTCTTACTACAGTTCCCATGCTCTGAAACTG
AGCTGGAATGGGAAGAACCTCACTACCAACCAGTTCCTGATGCAAGAAGTAGCCAAGCAGCTGGGCCTGAAGAGGATGAATTTCCCCATATTTGCTGCACTGCTA
GGTAACCACATCCTCCCAGATGAGGACCTGGCTGCTTTTCACTGGAGCCTCTTGGGACCAGAACATCCTCTTGCATCACTTAAGGTTCGAGCTCATCAGCTGGTT
CTTCCTCCCTGTGACGTGGTGATCAAGGCTGTTTCTGAGTATGTCAGTTCCATCAAAGATCCCTCAAACCTGGATGTAGTTGGGAAGGATGTTTTCAAACAGTCT
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>FAM120C|54954|protein
MGVQGFQEFLEKRCPGAVVPVDLLKLARTVSRQQQQQHLHRQLPPTAALAPGAPRAARGSVPLQPPLPPAALGAYSGGAGPIRHHHPAHHFHHHGQAQPGLHPPL
PPPPPPQLPGARVLVDAGSALPRLYGGYQTDWVCGGQWNAMLGYLSALCQACAYPGGDGLELVVMFPGGLGKDRLAEWGRRCQAERQTAQLIVGHVGNKGTPPPR
AWFLPPACLSHCVRLALIRFRVKVFQSLEDHHLEVVAFFRENGFHGLLAHDSEYALYNIPSYYSSHALKLSWNGKNLTTNQFLMQEVAKQLGLKRMNFPIFAALL
GNHILPDEDLAAFHWSLLGPEHPLASLKVRAHQLVLPPCDVVIKAVSEYVSSIKDPSNLDVVGKDVFKQSQSRTEDKIERFKKAVEYYSVTTKLSSLPVGPSFLG
FRNNRLGNPPLPRNQVGTISAGKPMFSHQVPQKVKYPPPFPVGPNSSLLFSSHALGESHAFSEDPMLQNSPFANWAVSYDSSASQFPNYLPSKASPPLGPDSSHS
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
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
Qiao, 2008 USA, Canada aCGHASD - - - - 402 186 588
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
De Wolf V, 2014 - aCGH--syndromic autism - - - - 1 - 1
Linkage Studies Top