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 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
De Wolf V, 2014 - aCGH--syndromic autism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018