AutismKB 2.0

Evidence Details for FAM118A


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Basic Information Top
Gene Symbol:FAM118A ( C22orf8,FLJ20635 )
Gene Full Name: family with sequence similarity 118, member A
Band: 22q13.31
Quick LinksEntrez ID:55007; OMIM: NA; Uniprot ID:F118A_HUMAN; ENSEMBL ID: ENSG00000100376; HGNC ID: 1313
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM118A|55007|nucleotide
ATGGATTCAGTGGAAAAGACAACAAATAGAAGTGAACAAAAATCCAGAAAGTTTTTAAAAAGCCTCATCCGGAAACAGCCCCAGGAACTGCTCCTGGTTATCGGG
ACTGGCGTCAGCGCAGCAGTGGCCCCCGGAATCCCTGCCCTTTGCTCGTGGAGAAGCTGCATCGAGGCCGTCATCGAGGCTGCAGAGCAGCTGGAGGTGCTGCAC
CCCGGAGACGTCGCCGAGTTCCGGAGGAAAGTGACAAAGGACCGGGACCTGTTGGTTGTCGCCCATGATCTGATCCGGAAGATGTCACCTCGCACAGGCGATGCC
AAGCCCAGCTTCTTCCAGGACTGCCTGATGGAGGTGTTTGACGACCTGGAGCAGCACATCCGGAGTCCTGTGGTGCTGCAGTCGATCCTCAGCCTGATGGACAGG
GGCGCCATGGTCCTGACCACCAACTATGACAACCTGCTGGAGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTC
CTTGAATGGGCAAGAGGGCACATGAAGTACGGCGTCCTCCACATTCACGGCCTCTACACGGACCCCTGCGGGGTGGTGCTGGACCCATCGGGGTATAAAGACGTC
ACTCAAGACGCAGAAGTCATGGAAGTCCTCCAGAACTTATACCGCACCAAGTCCTTTCTGTTTGTGGGCTGTGGGGAGACCCTTCGTGATCAGATATTCCAGGCC
CTCTTTCTTTACTCCGTGCCGAATAAGGTGGATTTGGAGCACTACATGCTTGTGCTGAAGGAGAATGAAGACCATTTCTTTAAGCATCAGGCAGATATGCTTCTG
CACGGAATCAAAGTTGTATCCTACGGGGACTGTTTTGACCACTTTCCAGGATATGTGCAAGACCTTGCCACTCAGATCTGCAAACAGCAAAGCCCAGATGCTGAT
CGCGTGGACAGCACCACATTATTGGGTAATGCATGCCAGGACTGTGCAAAGAGGAAGTTAGAAGAGAATGGAATTGAAGTTTCAAAAAAACGCACACAATCAGAT
ACTGATGATGCTGGAGGGTCTTGA
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>FAM118A|55007|protein
MDSVEKTTNRSEQKSRKFLKSLIRKQPQELLLVIGTGVSAAVAPGIPALCSWRSCIEAVIEAAEQLEVLHPGDVAEFRRKVTKDRDLLVVAHDLIRKMSPRTGDA
KPSFFQDCLMEVFDDLEQHIRSPVVLQSILSLMDRGAMVLTTNYDNLLEAFGRRQNKPMESLDLKDKTKVLEWARGHMKYGVLHIHGLYTDPCGVVLDPSGYKDV
TQDAEVMEVLQNLYRTKSFLFVGCGETLRDQIFQALFLYSVPNKVDLEHYMLVLKENEDHFFKHQADMLLHGIKVVSYGDCFDHFPGYVQDLATQICKQQSPDAD
RVDSTTLLGNACQDCAKRKLEENGIEVSKKRTQSDTDDAGGS

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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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Chen, 2011 - FISH, aCGH--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