AutismKB 2.0

Evidence Details for FAM110C


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Basic Information Top
Gene Symbol:FAM110C ( - )
Gene Full Name: family with sequence similarity 110, member C
Band: 2p25.3
Quick LinksEntrez ID:642273; OMIM: 611395; Uniprot ID:F110C_HUMAN; ENSEMBL ID: ENSG00000184731; HGNC ID: 33340
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM110C|642273|nucleotide
ATGCGCGCCCTGGCGGCCCTGAGCGCGCCCCCGAACGAGCGGCTCCTTCCCCGGGACCCCGCGGCTACCCGGGACCCCGACGCCGCGCGGCCGGCGCGCAGGAGC
GCAGTGGAGAGGCTGGCGGCGGATCGCGCCAAGTATGTGCGGGGTCGGCCGGGGACTGGCCGGGGCGTCGCTTCCGAGGGCAGCGGCCCGGGGGCGATCAAGTGC
CCGGGGAACGACCCTGGGCCCCCGGCCCGCGCCCCGGCCCCGGTGGCGCGCAGGGCTATTGCGCGGAAGCCGTTGAGACCGGACTCGCTGATCATCTACCGGCAG
AAATGCGAATTCGTGCGAGGATCGGGCGCCGACGGCCCCAGGGCAAGCCTGGTGAAGAAGCTCTTCCAGGGGCCGGGTAAGGACAAGGCGCCGGTGCCCCGGACG
GGAGACGAGGGCAAGGCCGGGAACCCGGAGACGGTCCCGACCACTCCTGGCCCCGCGGCGGACCCCGCAATCCCCGAGACCCCAGCCCCAGCCGCGCGGTCCGCG
GCGCCCTCCAGTGTCCCGGCCGCGCCCCCTGGGCCAGAGCCGCGGGTGGTGAGGCGTCGGGGGCTGCAGCGCTCACAGTCGGACCTCAGCTCCCGCTATTCCGCT
GCCTTGGCCGAGTCTGACACCTTCTTCCAGTACTGCGGCCTGGACCCCGAGGTGGTGGAGGCCCTGGGGAGGGAGAACTTCACCGCGGGGTCGGACTGTGTGACC
CTCAAGGTGCGCAGCGTGAGCGTCGCCACCTCCGGCAGCGGCTTCTCCCGGCACAGCGGCGGCGACGACGAGGGGCTGCAGGAGGAGGAGCTGATAGAGCAGGTG
CCCAGCACCACTTCGGTCATCGAGAGGAACGCCCGCATCATCAAGTGGCTGTACACCTGTAAGAAGGCCAAGGAGACCCCCAGCCAGGAGCAGAGCCGGACCCGA
GGAAGCAAACCTTCCCGATGA

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>FAM110C|642273|protein
MRALAALSAPPNERLLPRDPAATRDPDAARPARRSAVERLAADRAKYVRGRPGTGRGVASEGSGPGAIKCPGNDPGPPARAPAPVARRAIARKPLRPDSLIIYRQ
KCEFVRGSGADGPRASLVKKLFQGPGKDKAPVPRTGDEGKAGNPETVPTTPGPAADPAIPETPAPAARSAAPSSVPAAPPGPEPRVVRRRGLQRSQSDLSSRYSA
ALAESDTFFQYCGLDPEVVEALGRENFTAGSDCVTLKVRSVSVATSGSGFSRHSGGDDEGLQEEELIEQVPSTTSVIERNARIIKWLYTCKKAKETPSQEQSRTR
GSKPSR

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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 (2) 1 (2) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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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  (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