AutismKB 2.0

Evidence Details for TPO


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Basic Information Top
Gene Symbol:TPO ( MSA,TDH2A,TPX )
Gene Full Name: thyroid peroxidase
Band: 2p25.3
Quick LinksEntrez ID:7173; OMIM: 606765; Uniprot ID:PERT_HUMAN; ENSEMBL ID: ENSG00000115705; HGNC ID: 12015
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPO|7173|nucleotide
ATGAGAGCGCTCGCTGTGCTGTCTGTCACGCTGGTTATGGCCTGCACAGAAGCCTTCTTCCCCTTCATCTCGAGAGGGAAAGAACTCCTTTGGGGAAAGCCTGAG
GAGTCTCGTGTCTCTAGCGTCTTGGAGGAAAGCAAGCGCCTGGTGGACACCGCCATGTACGCCACGATGCAGAGAAACCTCAAGAAAAGAGGAATCCTTTCTCCA
GCTCAGCTTCTGTCTTTTTCCAAACTTCCTGAGCCAACAAGCGGAGTGATTGCCCGAGCAGCAGAGATAATGGAAACATCAATACAAGCGATGAAAAGAAAAGTC
AACCTGAAAACTCAACAATCACAGCATCCAACGGATGCTTTATCAGAAGATCTGCTGAGCATCATTGCAAACATGTCTGGATGTCTCCCTTACATGCTGCCCCCA
AAATGCCCAAACACTTGCCTGGCGAACAAATACAGGCCCATCACAGGAGCTTGCAACAACAGAGACCACCCCAGATGGGGCGCCTCCAACACGGCCCTGGCACGA
TGGCTCCCTCCAGTCTATGAGGACGGCTTCAGTCAGCCCCGAGGCTGGAACCCCGGCTTCTTGTACAACGGGTTCCCACTGCCCCCGGTCCGGGAGGTGACAAGA
CATGTCATTCAAGTTTCAAATGAGGTTGTCACAGATGATGACCGCTATTCTGACCTCCTGATGGCATGGGGACAATACATCGACCACGACATCGCGTTCACACCA
CAGAGCACCAGCAAAGCTGCCTTCGGGGGAGGGGCTGACTGCCAGATGACTTGTGAGAACCAAAACCCATGTTTTCCCATACAACTCCCGGAGGAGGCCCGGCCG
GCCGCGGGCACCGCCTGTCTGCCCTTCTACCGCTCTTCGGCCGCCTGCGGCACCGGGGACCAAGGCGCGCTCTTTGGGAACCTGTCCACGGCCAACCCGCGGCAG
CAGATGAACGGGTTGACCTCGTTCCTGGACGCGTCCACCGTGTATGGCAGCTCCCCGGCCCTAGAGAGGCAGCTGCGGAACTGGACCAGTGCCGAAGGGCTGCTC
CGCGTCCACGCGCGCCTCCGGGACTCCGGCCGCGCCTACCTGCCCTTCGTGCCGCCACGCGCGCCTGCGGCCTGTGCGCCCGAGCCCGGCATCCCCGGAGAGACC
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>TPO|7173|protein
MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKV
NLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTR
HVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQ
QMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAA
LKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFS
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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 (0) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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