Evidence Details for SOHLH1
Basic Information Top
| Gene Symbol: | SOHLH1 ( C9orf157,NOHLH,TEB2,bA100C15.3,bHLHe80 ) |
|---|---|
| Gene Full Name: | spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:402381; OMIM: 610224; Uniprot ID:SOLH1_HUMAN; ENSEMBL ID: ENSG00000165643; HGNC ID: 27845 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SOHLH1|402381|nucleotide
ATGGCGTCCCGGTGCTCCGAGCCCTACCCGGAGGTCTCCAGAATCCCTACCGTCAGGGGATGCAACGGCTCCCTGTCTGGTGCCCTCTCCTGCTGCGAGGACTCG
GCCCAGGGCTCGGGCCCGCCCAAGGCCCCTACGGTGGCCGAGGGTCCCAGCTCCTGCCTTCGGCGGAACGTGATCAGCGAGAGGGAGCGCAGGAAGCGGATGTCG
TTGAGCTGTGAGCGTCTGCGGGCCCTGCTGCCCCAGTTCGATGGCCGGCGGGAGGACATGGCCTCGGTCCTGGAGATGTCTGTGCAGTTCCTGCGGCTTGCCAGC
GCCCTGGGGCCCAGTCAGGAGCAGCACGCTATTCTTGCTTCCTCCAAGGAAATGTGGCACTCGTTGCAGGAGGATGTTTTACAGTTGACGTTGTCGAGTCAGATT
CAAGCAGGTGTGCCAGACCCTGGGACGGGAGCGTCCAGCGGGACTCGAACCCCAGATGTGAAGGCGTTTCTGGAAAGTCCTTGGTCCCTGGATCCAGCGTCGGCC
AGCCCAGAGCCCGTGCCGCACATCCTTGCGTCCTCCAGGCAGTGGGACCCCGCGAGCTGCACGTCCCTGGGCACGGACAAGTGTGAGGCACTGTTGGGGCTGTGC
CAGGTGCGGGGTGGGCTGCCCCCTTTCTCAGAACCTTCCAGCCTGGTGCCGTGGCCCCCAGGCCGGAGTCTTCCTAAGGCTGTGAGGCCACCCCTGTCCTGGCCT
CCGTTCTCGCAGCAGCAGACCTTGCCCGTGATGAGCGGGGAGGCCCTTGGCTGGCTGGGCCAGGCTGGGCCCCTGGCCATGGGGGCTGCACCTCTGGGGGAGCCA
GCCAAGGAGGACCCCATGCTGGCGCAGGAGGCCGGGTCTGCGTTGGGGTCTGATGTGGACGATGGGACGTCCTTCCTGCTGACTGCTGGTCCCAGCTCGTGGCCG
GGTGAGTGGGGCCCTGGGTTCAGGGCTGGTCCCCCCGCGTAA
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ATGGCGTCCCGGTGCTCCGAGCCCTACCCGGAGGTCTCCAGAATCCCTACCGTCAGGGGATGCAACGGCTCCCTGTCTGGTGCCCTCTCCTGCTGCGAGGACTCG
GCCCAGGGCTCGGGCCCGCCCAAGGCCCCTACGGTGGCCGAGGGTCCCAGCTCCTGCCTTCGGCGGAACGTGATCAGCGAGAGGGAGCGCAGGAAGCGGATGTCG
TTGAGCTGTGAGCGTCTGCGGGCCCTGCTGCCCCAGTTCGATGGCCGGCGGGAGGACATGGCCTCGGTCCTGGAGATGTCTGTGCAGTTCCTGCGGCTTGCCAGC
GCCCTGGGGCCCAGTCAGGAGCAGCACGCTATTCTTGCTTCCTCCAAGGAAATGTGGCACTCGTTGCAGGAGGATGTTTTACAGTTGACGTTGTCGAGTCAGATT
CAAGCAGGTGTGCCAGACCCTGGGACGGGAGCGTCCAGCGGGACTCGAACCCCAGATGTGAAGGCGTTTCTGGAAAGTCCTTGGTCCCTGGATCCAGCGTCGGCC
AGCCCAGAGCCCGTGCCGCACATCCTTGCGTCCTCCAGGCAGTGGGACCCCGCGAGCTGCACGTCCCTGGGCACGGACAAGTGTGAGGCACTGTTGGGGCTGTGC
CAGGTGCGGGGTGGGCTGCCCCCTTTCTCAGAACCTTCCAGCCTGGTGCCGTGGCCCCCAGGCCGGAGTCTTCCTAAGGCTGTGAGGCCACCCCTGTCCTGGCCT
CCGTTCTCGCAGCAGCAGACCTTGCCCGTGATGAGCGGGGAGGCCCTTGGCTGGCTGGGCCAGGCTGGGCCCCTGGCCATGGGGGCTGCACCTCTGGGGGAGCCA
GCCAAGGAGGACCCCATGCTGGCGCAGGAGGCCGGGTCTGCGTTGGGGTCTGATGTGGACGATGGGACGTCCTTCCTGCTGACTGCTGGTCCCAGCTCGTGGCCG
GGTGAGTGGGGCCCTGGGTTCAGGGCTGGTCCCCCCGCGTAA
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>SOHLH1|402381|protein
MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSAQGSGPPKAPTVAEGPSSCLRRNVISERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLRLAS
ALGPSQEQHAILASSKEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDVKAFLESPWSLDPASASPEPVPHILASSRQWDPASCTSLGTDKCEALLGLC
QVRGGLPPFSEPSSLVPWPPGRSLPKAVRPPLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVDDGTSFLLTAGPSSWP
GEWGPGFRAGPPA
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MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSAQGSGPPKAPTVAEGPSSCLRRNVISERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLRLAS
ALGPSQEQHAILASSKEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDVKAFLESPWSLDPASASPEPVPHILASSRQWDPASCTSLGTDKCEALLGLC
QVRGGLPPFSEPSSLVPWPPGRSLPKAVRPPLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVDDGTSFLLTAGPSSWP
GEWGPGFRAGPPA
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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 (0) | 0 (0) | 0 (1) | 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