Evidence Details for SNW1
Basic Information Top
| Gene Symbol: | SNW1 ( Bx42,MGC119379,NCOA-62,PRPF45,Prp45,SKIIP,SKIP ) |
|---|---|
| Gene Full Name: | SNW domain containing 1 |
| Band: | 14q24.3 |
| Quick Links | Entrez ID:22938; OMIM: 603055; Uniprot ID:SNW1_HUMAN; ENSEMBL ID: ENSG00000100603; HGNC ID: 16696 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SNW1|22938|nucleotide
ATGGCGCTCACCAGCTTTTTACCTGCACCTACTCAGCTATCTCAGGACCAGCTTGAGGCTGAAGAAAAGGCAAGATCCCAGAGATCACGGCAGACCTCACTGGTC
TCCTCCCGAAGAGAACCTCCCCCGTACGGATACCGGAAAGGCTGGATACCTCGGTTATTAGAGGATTTTGGAGATGGAGGTGCTTTTCCAGAGATCCATGTGGCC
CAGTATCCACTGGATATGGGACGAAAGAAAAAAATGTCGAATGCGCTGGCCATTCAGGTGGATTCTGAAGGAAAAATTAAATATGATGCAATTGCTCGACAAGGA
CAGTCAAAAGACAAGGTCATTTATAGCAAATACACTGACCTGGTTCCAAAGGAGGTTATGAATGCAGATGATCCAGACCTGCAAAGGCCCGATGAAGAAGCTATT
AAAGAGATAACAGAAAAGACAAGAGTAGCCTTAGAAAAATCTGTATCACAGAAGGTCGCCGCAGCCATGCCAGTTCGAGCAGCTGACAAATTGGCTCCTGCTCAG
TATATCCGATACACACCATCTCAGCAAGGAGTGGCATTCAACTCTGGAGCTAAACAGAGGGTTATTCGGATGGTAGAAATGCAGAAAGATCCAATGGAGCCTCCA
AGGTTCAAGATTAATAAGAAAATTCCCCGGGGACCACCTTCTCCTCCTGCGCCTGTCATGCATTCTCCTAGCCGAAAGATGACTGTAAAGGAACAACAAGAGTGG
AAGATTCCTCCTTGTATTTCTAACTGGAAAAATGCAAAGGGTTATACAATTCCATTAGACAAACGTCTGGCTGCTGATGGAAGAGGACTACAGACAGTACACATA
AATGAAAATTTCGCCAAATTGGCAGAAGCCCTCTACATTGCTGATCGGAAGGCTCGTGAAGCTGTGGAAATGCGTGCCCAAGTAGAGAGAAAAATGGCTCAGAAA
GAAAAGGAAAAACATGAAGAGAAACTTAGAGAAATGGCCCAGAAAGCCAGGGAGAGAAGAGCTGGGATCAAAACTCATGTGGAAAAAGAGGATGGGGAGGCACGT
GAGAGGGATGAAATCCGGCATGACAGGCGAAAAGAGAGACAGCATGACCGGAATCTTTCCAGGGCAGCTCCTGATAAGAGGTCGAAACTTCAGAGAAATGAAAAT
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ATGGCGCTCACCAGCTTTTTACCTGCACCTACTCAGCTATCTCAGGACCAGCTTGAGGCTGAAGAAAAGGCAAGATCCCAGAGATCACGGCAGACCTCACTGGTC
TCCTCCCGAAGAGAACCTCCCCCGTACGGATACCGGAAAGGCTGGATACCTCGGTTATTAGAGGATTTTGGAGATGGAGGTGCTTTTCCAGAGATCCATGTGGCC
CAGTATCCACTGGATATGGGACGAAAGAAAAAAATGTCGAATGCGCTGGCCATTCAGGTGGATTCTGAAGGAAAAATTAAATATGATGCAATTGCTCGACAAGGA
CAGTCAAAAGACAAGGTCATTTATAGCAAATACACTGACCTGGTTCCAAAGGAGGTTATGAATGCAGATGATCCAGACCTGCAAAGGCCCGATGAAGAAGCTATT
AAAGAGATAACAGAAAAGACAAGAGTAGCCTTAGAAAAATCTGTATCACAGAAGGTCGCCGCAGCCATGCCAGTTCGAGCAGCTGACAAATTGGCTCCTGCTCAG
TATATCCGATACACACCATCTCAGCAAGGAGTGGCATTCAACTCTGGAGCTAAACAGAGGGTTATTCGGATGGTAGAAATGCAGAAAGATCCAATGGAGCCTCCA
AGGTTCAAGATTAATAAGAAAATTCCCCGGGGACCACCTTCTCCTCCTGCGCCTGTCATGCATTCTCCTAGCCGAAAGATGACTGTAAAGGAACAACAAGAGTGG
AAGATTCCTCCTTGTATTTCTAACTGGAAAAATGCAAAGGGTTATACAATTCCATTAGACAAACGTCTGGCTGCTGATGGAAGAGGACTACAGACAGTACACATA
AATGAAAATTTCGCCAAATTGGCAGAAGCCCTCTACATTGCTGATCGGAAGGCTCGTGAAGCTGTGGAAATGCGTGCCCAAGTAGAGAGAAAAATGGCTCAGAAA
GAAAAGGAAAAACATGAAGAGAAACTTAGAGAAATGGCCCAGAAAGCCAGGGAGAGAAGAGCTGGGATCAAAACTCATGTGGAAAAAGAGGATGGGGAGGCACGT
GAGAGGGATGAAATCCGGCATGACAGGCGAAAAGAGAGACAGCATGACCGGAATCTTTCCAGGGCAGCTCCTGATAAGAGGTCGAAACTTCAGAGAAATGAAAAT
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>SNW1|22938|protein
MALTSFLPAPTQLSQDQLEAEEKARSQRSRQTSLVSSRREPPPYGYRKGWIPRLLEDFGDGGAFPEIHVAQYPLDMGRKKKMSNALAIQVDSEGKIKYDAIARQG
QSKDKVIYSKYTDLVPKEVMNADDPDLQRPDEEAIKEITEKTRVALEKSVSQKVAAAMPVRAADKLAPAQYIRYTPSQQGVAFNSGAKQRVIRMVEMQKDPMEPP
RFKINKKIPRGPPSPPAPVMHSPSRKMTVKEQQEWKIPPCISNWKNAKGYTIPLDKRLAADGRGLQTVHINENFAKLAEALYIADRKAREAVEMRAQVERKMAQK
EKEKHEEKLREMAQKARERRAGIKTHVEKEDGEARERDEIRHDRRKERQHDRNLSRAAPDKRSKLQRNENRDISEVIALGVPNPRTSNEVQYDQRLFNQSKGMDS
GFAGGEDEIYNVYDQAWRGGKDMAQSIYRPSKNLDKDMYGDDLEARIKTNRFVPDKEFSGSDRRQRGREGPVQFEEDPFGLDKFLEEAKQHGGSKRPSDSSRPKE
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MALTSFLPAPTQLSQDQLEAEEKARSQRSRQTSLVSSRREPPPYGYRKGWIPRLLEDFGDGGAFPEIHVAQYPLDMGRKKKMSNALAIQVDSEGKIKYDAIARQG
QSKDKVIYSKYTDLVPKEVMNADDPDLQRPDEEAIKEITEKTRVALEKSVSQKVAAAMPVRAADKLAPAQYIRYTPSQQGVAFNSGAKQRVIRMVEMQKDPMEPP
RFKINKKIPRGPPSPPAPVMHSPSRKMTVKEQQEWKIPPCISNWKNAKGYTIPLDKRLAADGRGLQTVHINENFAKLAEALYIADRKAREAVEMRAQVERKMAQK
EKEKHEEKLREMAQKARERRAGIKTHVEKEDGEARERDEIRHDRRKERQHDRNLSRAAPDKRSKLQRNENRDISEVIALGVPNPRTSNEVQYDQRLFNQSKGMDS
GFAGGEDEIYNVYDQAWRGGKDMAQSIYRPSKNLDKDMYGDDLEARIKTNRFVPDKEFSGSDRRQRGREGPVQFEEDPFGLDKFLEEAKQHGGSKRPSDSSRPKE
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
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 | ||||||
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen |  | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) | | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Dong S, 2014 | 787 | 787 | 42 | De novo insertions and deletions of predominantly paternal origin are associated with autism spectru |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.