Evidence Details for SPATA17
Basic Information Top
| Gene Symbol: | SPATA17 ( IQCH,MSRG-11,MSRG11,RP11-144C20.1 ) |
|---|---|
| Gene Full Name: | spermatogenesis associated 17 |
| Band: | 1q41 |
| Quick Links | Entrez ID:128153; OMIM: 611032; Uniprot ID:SPT17_HUMAN; ENSEMBL ID: ENSG00000162814; HGNC ID: 25184 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SPATA17|128153|nucleotide
ATGGCCACGTTAGCCCGGCTGCAAGCTAGGTCGTCGACTGTAGGAAATCAGTACTACTTTAGGAACAGTGTTGTAGATCCATTTAGAAAAAAGGAGAATGATGCA
GCAGTTAAAATCCAAAGCTGGTTTCGAGGATGTCAAGTTCGGGCATATATCAGGCATTTAAACAGGATTGTAACAATTATTCAAAAATGGTGGAGAAGTTTCTTA
GGCAGAAAGCAATATCAACTAACTGTGCAGGTAGCATATTATACTATGATGATGAATCTCTACAATGCAATGGCTGTCAGGATTCAGAGACGATGGCGAGGCTAT
AGGGTTCGGAAGTACCTCTTTAATTATTATTATTTGAAAGAGTACCTGAAAGTCGTTTCAGAGACCAATGATGCAATTAGGAAGGCACTGGAGGAGTTTGCAGAA
ATGAAAGAAAGAGAAGAGAAGAAGGCTAACCTCGAAAGGGAAGAGAAGAAAAGAGATTACCAAGCCCGAAAGATGCATTACCTCCTCAGCACAAAGCAGATTCCA
GGAATATACAATTCACCCTTCAGAAAAGAGCCTGATCCATGGGAGCTGCAATTACAAAAGGCAAAGCCTTTAACACACCGAAGACCTAAAGTTAAGCAGAAGGAC
TCCACCAGCCTTACTGATTGGCTAGCTTGTACAAGCGCCCGTTCTTTTCCTCGGTCTGAAATTCTACCACCTATTAATAGAAAGCAATGTCAGGGGCCCTTCCGA
GATATCACCGAAGTATTAGAACAACGCTACAGGCCTTTGGAGCCAACGTTGCGGGTGGCAGAACCAATCGATGAGTTAAAGTTGGCCAGAGAGGAGCTCAGAAGA
GAGGAATGGCTGCAAAATGTAAATGACAATATGTTTTTGCCATTTTCTTCATACCATAAAAATGAAAAGTACATCCCATCAATGCATTTATCAAGCAAGTATGGT
CCTATTTCTTACAAAGAACAATTCCGAAGTGAAAATCCTAAGAAATGGATCTGTGACAAGGATTTCCAGACTGTATTACCATCATTTGAGCTCTTCTCAAAGTAT
GGAAAATTATATTCAAAAGCTGGACAGATTGTATAA
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ATGGCCACGTTAGCCCGGCTGCAAGCTAGGTCGTCGACTGTAGGAAATCAGTACTACTTTAGGAACAGTGTTGTAGATCCATTTAGAAAAAAGGAGAATGATGCA
GCAGTTAAAATCCAAAGCTGGTTTCGAGGATGTCAAGTTCGGGCATATATCAGGCATTTAAACAGGATTGTAACAATTATTCAAAAATGGTGGAGAAGTTTCTTA
GGCAGAAAGCAATATCAACTAACTGTGCAGGTAGCATATTATACTATGATGATGAATCTCTACAATGCAATGGCTGTCAGGATTCAGAGACGATGGCGAGGCTAT
AGGGTTCGGAAGTACCTCTTTAATTATTATTATTTGAAAGAGTACCTGAAAGTCGTTTCAGAGACCAATGATGCAATTAGGAAGGCACTGGAGGAGTTTGCAGAA
ATGAAAGAAAGAGAAGAGAAGAAGGCTAACCTCGAAAGGGAAGAGAAGAAAAGAGATTACCAAGCCCGAAAGATGCATTACCTCCTCAGCACAAAGCAGATTCCA
GGAATATACAATTCACCCTTCAGAAAAGAGCCTGATCCATGGGAGCTGCAATTACAAAAGGCAAAGCCTTTAACACACCGAAGACCTAAAGTTAAGCAGAAGGAC
TCCACCAGCCTTACTGATTGGCTAGCTTGTACAAGCGCCCGTTCTTTTCCTCGGTCTGAAATTCTACCACCTATTAATAGAAAGCAATGTCAGGGGCCCTTCCGA
GATATCACCGAAGTATTAGAACAACGCTACAGGCCTTTGGAGCCAACGTTGCGGGTGGCAGAACCAATCGATGAGTTAAAGTTGGCCAGAGAGGAGCTCAGAAGA
GAGGAATGGCTGCAAAATGTAAATGACAATATGTTTTTGCCATTTTCTTCATACCATAAAAATGAAAAGTACATCCCATCAATGCATTTATCAAGCAAGTATGGT
CCTATTTCTTACAAAGAACAATTCCGAAGTGAAAATCCTAAGAAATGGATCTGTGACAAGGATTTCCAGACTGTATTACCATCATTTGAGCTCTTCTCAAAGTAT
GGAAAATTATATTCAAAAGCTGGACAGATTGTATAA
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>SPATA17|128153|protein
MATLARLQARSSTVGNQYYFRNSVVDPFRKKENDAAVKIQSWFRGCQVRAYIRHLNRIVTIIQKWWRSFLGRKQYQLTVQVAYYTMMMNLYNAMAVRIQRRWRGY
RVRKYLFNYYYLKEYLKVVSETNDAIRKALEEFAEMKEREEKKANLEREEKKRDYQARKMHYLLSTKQIPGIYNSPFRKEPDPWELQLQKAKPLTHRRPKVKQKD
STSLTDWLACTSARSFPRSEILPPINRKQCQGPFRDITEVLEQRYRPLEPTLRVAEPIDELKLAREELRREEWLQNVNDNMFLPFSSYHKNEKYIPSMHLSSKYG
PISYKEQFRSENPKKWICDKDFQTVLPSFELFSKYGKLYSKAGQIV
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MATLARLQARSSTVGNQYYFRNSVVDPFRKKENDAAVKIQSWFRGCQVRAYIRHLNRIVTIIQKWWRSFLGRKQYQLTVQVAYYTMMMNLYNAMAVRIQRRWRGY
RVRKYLFNYYYLKEYLKVVSETNDAIRKALEEFAEMKEREEKKANLEREEKKRDYQARKMHYLLSTKQIPGIYNSPFRKEPDPWELQLQKAKPLTHRRPKVKQKD
STSLTDWLACTSARSFPRSEILPPINRKQCQGPFRDITEVLEQRYRPLEPTLRVAEPIDELKLAREELRREEWLQNVNDNMFLPFSSYHKNEKYIPSMHLSSKYG
PISYKEQFRSENPKKWICDKDFQTVLPSFELFSKYGKLYSKAGQIV
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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