Evidence Details for SNX19
Basic Information Top
Gene Symbol: | SNX19 ( CHET8,DKFZp667I205,KIAA0254 ) |
---|---|
Gene Full Name: | sorting nexin 19 |
Band: | 11q24.3-q25 |
Quick Links | Entrez ID:399979; OMIM: NA; Uniprot ID:SNX19_HUMAN; ENSEMBL ID: ENSG00000120451; HGNC ID: 21532 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SNX19|399979|nucleotide
ATGAAGACAGAAACAGTGCCACCGTTCCAGGAAACTCCAGCTGGATCGAGCTGTCACCTCAATAACCTGTTGAGTAGCCGGAAGCTGATGGCTGTGGGGGTCTTG
CTTGGCTGGCTCCTGGTCATACACCTTCTGGTCAACGTGTGGCTGCTGTGCCTTCTGTCGGCATTGCTAGTGGTGCTGGGAGGATGGCTGGGCTCCAGCCTCGCT
GGAGTGGCTTCAGGTCGACTGCATCTGGAACGCTTCATCCCGTTGGCCACCTGTCCTCCATGCCCTGAGGCAGAAAGGCAGCTGGAACGGGAGATCAACCGCACC
ATCCAGATGATTATTCGAGATTTTGTGTTATCTTGGTACCGTTCCGTGAGCCAGGAGCCAGCCTTTGAGGAAGAAATGGAGGCAGCCATGAAAGGGTTGGTCCAG
GAGCTTCGGAGAAGGATGAGCGTGATGGACAGTCATGCTGTTGCCCAGAGTGTTCTGACTCTCTGCGGTTGTCACCTGCAGAGCTACATTCAGGCAAAGGAGGCC
ACTGCAGGGAAGAATGGTCCAGTTGAGCCTTCCCACCTCTGGGAGGCTTACTGCCGGGCGACTGCCCCACATCCTGCTGTGCACAGCCCCAGTGCTGAAGTCACC
TATACGCGTGGCGTTGTGAATTTGTTGCTTCAAGGGCTGGTGCCCAAGCCCCACTTGGAGACTCGTACCGGACGCCATGTAGTGGTCGAACTCATCACATGCAAT
GTAATCTTACCACTGATCAGCAGGCTGTCAGATCCTGACTGGATCCACCTTGTACTCGTGGGTATCTTTTCCAAGGCCAGAGATCCAGCACCCTGCCCAGCCAGT
GCCCCCGAACAGCCCTCAGTGCCGACATCTCTGCCACTGATTGCTGAGGTAGAGCAGCTTCCAGAAGGGAGAGCTTCTCCAGTAGCAGCCCCAGTATTCCTAAGT
TACAGTGAGCCAGAGGGTTCTGCAGGCCCCTCTCCAGAGGTTGAAGAAGGCCACGAAGCTGTAGAGGGAGATTTGGGTGGGATGTGTGAAGAAAGAAAAGTAGGA
AACAACTCATCTCATTTCCTACAGCCAAATGTTCGAGGTCCCCTGTTCTTATGTGAAGACTCAGAGCTGGAGTCTCCGCTGTCTGAACTGGGCAAAGAAACCATC
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ATGAAGACAGAAACAGTGCCACCGTTCCAGGAAACTCCAGCTGGATCGAGCTGTCACCTCAATAACCTGTTGAGTAGCCGGAAGCTGATGGCTGTGGGGGTCTTG
CTTGGCTGGCTCCTGGTCATACACCTTCTGGTCAACGTGTGGCTGCTGTGCCTTCTGTCGGCATTGCTAGTGGTGCTGGGAGGATGGCTGGGCTCCAGCCTCGCT
GGAGTGGCTTCAGGTCGACTGCATCTGGAACGCTTCATCCCGTTGGCCACCTGTCCTCCATGCCCTGAGGCAGAAAGGCAGCTGGAACGGGAGATCAACCGCACC
ATCCAGATGATTATTCGAGATTTTGTGTTATCTTGGTACCGTTCCGTGAGCCAGGAGCCAGCCTTTGAGGAAGAAATGGAGGCAGCCATGAAAGGGTTGGTCCAG
GAGCTTCGGAGAAGGATGAGCGTGATGGACAGTCATGCTGTTGCCCAGAGTGTTCTGACTCTCTGCGGTTGTCACCTGCAGAGCTACATTCAGGCAAAGGAGGCC
ACTGCAGGGAAGAATGGTCCAGTTGAGCCTTCCCACCTCTGGGAGGCTTACTGCCGGGCGACTGCCCCACATCCTGCTGTGCACAGCCCCAGTGCTGAAGTCACC
TATACGCGTGGCGTTGTGAATTTGTTGCTTCAAGGGCTGGTGCCCAAGCCCCACTTGGAGACTCGTACCGGACGCCATGTAGTGGTCGAACTCATCACATGCAAT
GTAATCTTACCACTGATCAGCAGGCTGTCAGATCCTGACTGGATCCACCTTGTACTCGTGGGTATCTTTTCCAAGGCCAGAGATCCAGCACCCTGCCCAGCCAGT
GCCCCCGAACAGCCCTCAGTGCCGACATCTCTGCCACTGATTGCTGAGGTAGAGCAGCTTCCAGAAGGGAGAGCTTCTCCAGTAGCAGCCCCAGTATTCCTAAGT
TACAGTGAGCCAGAGGGTTCTGCAGGCCCCTCTCCAGAGGTTGAAGAAGGCCACGAAGCTGTAGAGGGAGATTTGGGTGGGATGTGTGAAGAAAGAAAAGTAGGA
AACAACTCATCTCATTTCCTACAGCCAAATGTTCGAGGTCCCCTGTTCTTATGTGAAGACTCAGAGCTGGAGTCTCCGCTGTCTGAACTGGGCAAAGAAACCATC
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>SNX19|399979|protein
MKTETVPPFQETPAGSSCHLNNLLSSRKLMAVGVLLGWLLVIHLLVNVWLLCLLSALLVVLGGWLGSSLAGVASGRLHLERFIPLATCPPCPEAERQLEREINRT
IQMIIRDFVLSWYRSVSQEPAFEEEMEAAMKGLVQELRRRMSVMDSHAVAQSVLTLCGCHLQSYIQAKEATAGKNGPVEPSHLWEAYCRATAPHPAVHSPSAEVT
YTRGVVNLLLQGLVPKPHLETRTGRHVVVELITCNVILPLISRLSDPDWIHLVLVGIFSKARDPAPCPASAPEQPSVPTSLPLIAEVEQLPEGRASPVAAPVFLS
YSEPEGSAGPSPEVEEGHEAVEGDLGGMCEERKVGNNSSHFLQPNVRGPLFLCEDSELESPLSELGKETIMLMTPGSFLSDRIQDALCALESSQALEPKDGEASE
GAEAEEGPGTETETGLPVSTLNSCPEIHIDTADKEIEQGDVTASVTALLEGPEKTCPSRPSCLEKDLTNDVSSLDPTLPPVLLSSSPPGPLSSATFSFEPLSSPD
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MKTETVPPFQETPAGSSCHLNNLLSSRKLMAVGVLLGWLLVIHLLVNVWLLCLLSALLVVLGGWLGSSLAGVASGRLHLERFIPLATCPPCPEAERQLEREINRT
IQMIIRDFVLSWYRSVSQEPAFEEEMEAAMKGLVQELRRRMSVMDSHAVAQSVLTLCGCHLQSYIQAKEATAGKNGPVEPSHLWEAYCRATAPHPAVHSPSAEVT
YTRGVVNLLLQGLVPKPHLETRTGRHVVVELITCNVILPLISRLSDPDWIHLVLVGIFSKARDPAPCPASAPEQPSVPTSLPLIAEVEQLPEGRASPVAAPVFLS
YSEPEGSAGPSPEVEEGHEAVEGDLGGMCEERKVGNNSSHFLQPNVRGPLFLCEDSELESPLSELGKETIMLMTPGSFLSDRIQDALCALESSQALEPKDGEASE
GAEAEEGPGTETETGLPVSTLNSCPEIHIDTADKEIEQGDVTASVTALLEGPEKTCPSRPSCLEKDLTNDVSSLDPTLPPVLLSSSPPGPLSSATFSFEPLSSPD
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Maruani A, 2015 | - | - | ASD | - | - | - | - | 1256 | 1287 | 2543 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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