AutismKB 2.0

Evidence Details for TBC1D25


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Basic Information Top
Gene Symbol:TBC1D25 ( MG81,MGC126866,MGC126868,MGC149731,MGC149732,OATL1 )
Gene Full Name: TBC1 domain family, member 25
Band: Xp11.23
Quick LinksEntrez ID:4943; OMIM: 311240; Uniprot ID:TBC25_HUMAN; ENSEMBL ID: ENSG00000068354; HGNC ID: 8092
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBC1D25|4943|nucleotide
ATGGCAACAGCCTCCGGGGCCTCGGACTTGTCTGGCTCCGGAGCGCCCCCGCCCGGTGTGGGAGCTCAGGCGGCGGCGGCCGCTGAGGAGGAGGAGCGAGAGGTG
GTGCGGGTCCGAGTCAAGAAATGTGAGAGCTTCTTGCCGCCAGAGTTCCGCTCTTTTGCTGTAGATCCCCAGATCACCTCGCTCGACGTGTTGCAGCACATCCTC
ATCCGAGCCTTTGATTTGAGTGGGAAGAAGAACTTTGGCATCAGCTACCTGGGCCGGGACCGGCTAGGACAGGAAGTTTACCTCTCACTTCTATCTGACTGGGAC
CTCAGCACAGCCTTTGCCACTGCCTCCAAACCTTACCTGCAATTGCGTGTAGATATTCGGCCCTCGGAGGACAGCCCATTGCTAGAAGACTGGGACATAATCAGC
CCCAAAGATGTCATTGGCTCCGACGTGTTGCTGGCTGAGAAACGGTCATCACTGACGACTGCCGCCCTGCCCTTTACACAGTCCATCCTCACTCAGGTGGGCCGT
ACCTTGTCTAAGGTCCAACAAGTGCTGAGCTGGTCGTATGGGGAAGATGTCAAGCCCTTCAAGCCACCCCTGAGCGATGCTGAGTTTCACACGTACCTGAACCAC
GAGGGCCAGCTCTCCCGACCCGAGGAGTTGCGCCTGCGGATCTATCATGGCGGTGTGGAGCCCTCGCTGCGAAAGGTGGTGTGGCGGTACCTGCTGAACGTGTAT
CCAGATGGACTGACAGGCCGAGAGCGGATGGACTACATGAAACGCAAGAGCCGCGAGTATGAGCAGCTCAAGAGCGAGTGGGCCCAGCGAGCGAACCCTGAGGAC
CTGGAATTCATCCGCAGCACGGTCCTCAAGGATGTACTGCGCACTGACCGGGCCCACCCCTACTATGCGGGGCCTGAGGATGGCCCACATCTACGGGCGCTGCAC
GACCTGCTCACCACCTATGCCGTTACCCACCCACAGGTGTCCTACTGCCAGGGCATGAGTGACCTTGCCTCACCCATCCTCGCTGTCATGGACCATGAGGGCCAT
GCCTTTGTTTGCTTTTGTGGCATCATGAAACGCCTGGCCGCCAACTTCCACCCTGACGGCCGCGCCATGGCCACCAAGTTTGCACACTTGAAGCTGTTGCTGCGA
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>TBC1D25|4943|protein
MATASGASDLSGSGAPPPGVGAQAAAAAEEEEREVVRVRVKKCESFLPPEFRSFAVDPQITSLDVLQHILIRAFDLSGKKNFGISYLGRDRLGQEVYLSLLSDWD
LSTAFATASKPYLQLRVDIRPSEDSPLLEDWDIISPKDVIGSDVLLAEKRSSLTTAALPFTQSILTQVGRTLSKVQQVLSWSYGEDVKPFKPPLSDAEFHTYLNH
EGQLSRPEELRLRIYHGGVEPSLRKVVWRYLLNVYPDGLTGRERMDYMKRKSREYEQLKSEWAQRANPEDLEFIRSTVLKDVLRTDRAHPYYAGPEDGPHLRALH
DLLTTYAVTHPQVSYCQGMSDLASPILAVMDHEGHAFVCFCGIMKRLAANFHPDGRAMATKFAHLKLLLRHADPDFYQYLQEAGADDLFFCYRWLLLELKREFAF
DDALRMLEVTWSSLPPDPPEHEVELVGPPSQVADAGFGGHRGWPVRQRHMLRPAGGGGSTFEDAVDHLATASQGPGGGGRLLRQASLDGLQQLRDNMGSRRDPLV
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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 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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