Evidence Details for TPRN
Basic Information Top
| Gene Symbol: | TPRN ( C9orf75,DFNB79,FLJ90254,MGC131933,RP11-350O14.7 ) |
|---|---|
| Gene Full Name: | taperin |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:286262; OMIM: 613354; Uniprot ID:TPRN_HUMAN; ENSEMBL ID: ENSG00000176058; HGNC ID: 26894 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TPRN|286262|nucleotide
ATGGCCGCCCTGGGGCGGCCGGGCTCGGGGCCGCGCGCTGCGGTGCCCGCTTGGAAGCGTGAGATCCTGGAGCGGAAGCGGGCCAAGCTAGCCGCGCTGGGCGGG
GGCGCGGGGCCCGGGGCGGCGGAGCCCGAGCAGCGGGTGCTGGCCGAGAGCCTGGGCCCGCTGCGCGAGAACCCGTTCATGCTGCTGGAGGCCGAGCGGCGGCGC
GGCGGGGGCGCGGCGGGGGCGCGGCTGCTGGAGCGGTACCGCCGCGTGCCTGGCGTGCGCGCCCTCCGCGCCGACAGCGTCCTCATCATCGAGACGGTGCCCGGC
TTCCCGCCCGCGCCGCCCGCCCCGGGGGCCGCGCAGATCCGCGCCGCCGAGGTGCTGGTGTACGGGGCGCCGCCCGGCCGCGTCAGCCGCCTACTGGAGAGGTTC
GACCCGCCCGCCGCGCCGCGCCGCCGCGGGAGCCCCGAGCGCGCCCGCCCCCCGCCGCCGCCGCCGCCGCCCGCGCCGCCCCGGCCCCCGCCCGCGGCCCCCAGC
CCGCCCGCCGCGCCCGGGCCCCGCGGTGGCGGGGCGAGCCCCGGGGCCCGGCGCAGCGACTTCCTCCAGAAGACCGGCAGCAACTCCTTCACCGTCCACCCCCGG
GGTCTGCACCGCGGCGCGGGCGCCCGCCTGCTCTCCAACGGGCACTCGGCCCCTGAGCCCCGGGCCGGCCCTGCCAACCGCCTCGCGGGCTCCCCGCCTGGGTCG
GGACAGTGGAAGCCAAAGGTGGAGTCGGGGGATCCCTCCCTCCACCCGCCCCCCAGCCCCGGGACCCCGAGTGCCACTCCAGCCTCACCCCCTGCCAGTGCCACT
CCTAGCCAGCGCCAGTGCGTCTCCGCAGCCACCAGCACCAACGACTCCTTCGAGATACGGCCGGCCCCCAAGCCAGTTATGGAGACCATCCCCTTGGGGGACCTC
CAGGCCCGGGCGCTGGCCAGCCTCCGCGCAAACTCTCGAAATTCTTTCATGGTCATCCCCAAGAGCAAGGCCTCCGGGGCTCCTCCTCCTGAGGGGAGGCAGTCC
GTGGAGCTGCCAAAGGGAGACCTGGGCCCGGCCTCCCCGAGCCAGGAGCTCGGATCCCAGCCGGTGCCTGGAGGGGATGGTGCGCCTGCCCTCGGGAAGAGCCCC
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ATGGCCGCCCTGGGGCGGCCGGGCTCGGGGCCGCGCGCTGCGGTGCCCGCTTGGAAGCGTGAGATCCTGGAGCGGAAGCGGGCCAAGCTAGCCGCGCTGGGCGGG
GGCGCGGGGCCCGGGGCGGCGGAGCCCGAGCAGCGGGTGCTGGCCGAGAGCCTGGGCCCGCTGCGCGAGAACCCGTTCATGCTGCTGGAGGCCGAGCGGCGGCGC
GGCGGGGGCGCGGCGGGGGCGCGGCTGCTGGAGCGGTACCGCCGCGTGCCTGGCGTGCGCGCCCTCCGCGCCGACAGCGTCCTCATCATCGAGACGGTGCCCGGC
TTCCCGCCCGCGCCGCCCGCCCCGGGGGCCGCGCAGATCCGCGCCGCCGAGGTGCTGGTGTACGGGGCGCCGCCCGGCCGCGTCAGCCGCCTACTGGAGAGGTTC
GACCCGCCCGCCGCGCCGCGCCGCCGCGGGAGCCCCGAGCGCGCCCGCCCCCCGCCGCCGCCGCCGCCGCCCGCGCCGCCCCGGCCCCCGCCCGCGGCCCCCAGC
CCGCCCGCCGCGCCCGGGCCCCGCGGTGGCGGGGCGAGCCCCGGGGCCCGGCGCAGCGACTTCCTCCAGAAGACCGGCAGCAACTCCTTCACCGTCCACCCCCGG
GGTCTGCACCGCGGCGCGGGCGCCCGCCTGCTCTCCAACGGGCACTCGGCCCCTGAGCCCCGGGCCGGCCCTGCCAACCGCCTCGCGGGCTCCCCGCCTGGGTCG
GGACAGTGGAAGCCAAAGGTGGAGTCGGGGGATCCCTCCCTCCACCCGCCCCCCAGCCCCGGGACCCCGAGTGCCACTCCAGCCTCACCCCCTGCCAGTGCCACT
CCTAGCCAGCGCCAGTGCGTCTCCGCAGCCACCAGCACCAACGACTCCTTCGAGATACGGCCGGCCCCCAAGCCAGTTATGGAGACCATCCCCTTGGGGGACCTC
CAGGCCCGGGCGCTGGCCAGCCTCCGCGCAAACTCTCGAAATTCTTTCATGGTCATCCCCAAGAGCAAGGCCTCCGGGGCTCCTCCTCCTGAGGGGAGGCAGTCC
GTGGAGCTGCCAAAGGGAGACCTGGGCCCGGCCTCCCCGAGCCAGGAGCTCGGATCCCAGCCGGTGCCTGGAGGGGATGGTGCGCCTGCCCTCGGGAAGAGCCCC
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>TPRN|286262|protein
MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPG
FPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPR
GLHRGAGARLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDL
QARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPP
PFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPR
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MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPG
FPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPR
GLHRGAGARLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDL
QARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPP
PFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPR
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Evidence summary TopClick 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 (2) | 1 (3) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top