Evidence Details for TPO
Basic Information Top
Gene Symbol: | TPO ( MSA,TDH2A,TPX ) |
---|---|
Gene Full Name: | thyroid peroxidase |
Band: | 2p25.3 |
Quick Links | Entrez 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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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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MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKV
NLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTR
HVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQ
QMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAA
LKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFS
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 screen | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - | ||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
MIXED/OTHERS | ||||||||||
Ramos PS, 2012_1 | USA | Illumina Hap 550 platform | 1510 | - (-) | ASD | - - |
- - |
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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