Evidence Details for SNX29


Gene Symbol: | SNX29 ( A-388D4.1,FLJ00143 ) |
---|---|
Gene Full Name: | sorting nexin 29 |
Band: | 16p13.13-p13.12 |
Quick Links | Entrez ID:92017; OMIM: NA; Uniprot ID:SNX29_HUMAN; ENSEMBL ID: ENSG00000048471; HGNC ID: 30542 |
Relate to Another Database: | SFARIGene; denovo-db |


>SNX29|92017|nucleotide
ATGCACAGCTGGGCTCCGCTGAAGGTGCTGCACAATGACTCCGACATCCTCTTCCCTGTCAGTGGCGTGGGCTCCTACAGCCCAGCAGATGCCCCCCTCGGAAGC
CTGGAGAACGGGACAGGACCAGAGGACCACGTTCTCCCAGATCCTGGACTTCGGTACAGTGTGGAAGCCAGCTCTCCAGGCCACGGAAGTCCTCTGAGCAGCCTG
TTACCTTCTGCCTCAGTGCCAGAGTCCATGACAATTAGTGAACTGCGCCAGGCCACTGTGGCCATGATGAACAGGAAGGATGAGCTGGAGGAGGAGAACAGATCA
CTGCGAAACCTGCTCGACGGTGAGATGGAGCACTCAGCCGCGCTCCGGCAAGAGGTGGACACCTTGAAAAGGAAGGTGGCTGAACAGGAGGAGCGGCAGGGCATG
AAGGTCCAGGCGCTGGCCAGAGAGAACGAGGTGCTCAAAGTCCAACTGAAGAAATATGTAGGAGCTGTCCAGATGCTGAAAAGAGAAGGTCAAACAGCTGAAGTG
CCAAATCTTTGGAGTGTTGATGGAGAAGTTACAGTAGCTGAACAGAAGCCGGGAGAAATTGCTGAAGAACTCGCAAGCTCCTACGAAAGAAAGCTCATCGAGGTG
GCAGAGATGCATGGCGAGCTGATTGAGTTCAACGAGCGCCTGCACAGGGCCCTGGTAGCCAAGGAAGCCCTCGTGTCCCAGATGAGGCAGGAGCTCATCGATCTC
CGGGGACCGGTGCCTGGAGATTTGAGTCAAACGTCCGAAGACCAGAGTTTGTCGGATTTTGAAATATCAAACCGGGCGCTGATCAACGTCTGGATCCCCTCAGTG
TTTCTCCGGGGCAAAGCAGCAAATGCATTCCACGTGTATCAGGTCTACATCCGGATAAAAGACGATGAATGGAATATTTATCGCCGGTATACAGAGTTCAGGAGT
TTGCACCACAAGTTACAAAACAAGTACCCTCAAGTGAGGGCCTACAACTTCCCACCCAAAAAGGCCATTGGAAACAAGGATGCCAAGTTTGTGGAGGAACGGAGA
AAGCAGCTCCAGAATTACCTGCGCAGCGTCATGAACAAAGTCATCCAGATGGTCCCCGAGTTCGCTGCCAGCCCCAAGAAGGAGACCCTCATCCAGCTGATGCCC
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ATGCACAGCTGGGCTCCGCTGAAGGTGCTGCACAATGACTCCGACATCCTCTTCCCTGTCAGTGGCGTGGGCTCCTACAGCCCAGCAGATGCCCCCCTCGGAAGC
CTGGAGAACGGGACAGGACCAGAGGACCACGTTCTCCCAGATCCTGGACTTCGGTACAGTGTGGAAGCCAGCTCTCCAGGCCACGGAAGTCCTCTGAGCAGCCTG
TTACCTTCTGCCTCAGTGCCAGAGTCCATGACAATTAGTGAACTGCGCCAGGCCACTGTGGCCATGATGAACAGGAAGGATGAGCTGGAGGAGGAGAACAGATCA
CTGCGAAACCTGCTCGACGGTGAGATGGAGCACTCAGCCGCGCTCCGGCAAGAGGTGGACACCTTGAAAAGGAAGGTGGCTGAACAGGAGGAGCGGCAGGGCATG
AAGGTCCAGGCGCTGGCCAGAGAGAACGAGGTGCTCAAAGTCCAACTGAAGAAATATGTAGGAGCTGTCCAGATGCTGAAAAGAGAAGGTCAAACAGCTGAAGTG
CCAAATCTTTGGAGTGTTGATGGAGAAGTTACAGTAGCTGAACAGAAGCCGGGAGAAATTGCTGAAGAACTCGCAAGCTCCTACGAAAGAAAGCTCATCGAGGTG
GCAGAGATGCATGGCGAGCTGATTGAGTTCAACGAGCGCCTGCACAGGGCCCTGGTAGCCAAGGAAGCCCTCGTGTCCCAGATGAGGCAGGAGCTCATCGATCTC
CGGGGACCGGTGCCTGGAGATTTGAGTCAAACGTCCGAAGACCAGAGTTTGTCGGATTTTGAAATATCAAACCGGGCGCTGATCAACGTCTGGATCCCCTCAGTG
TTTCTCCGGGGCAAAGCAGCAAATGCATTCCACGTGTATCAGGTCTACATCCGGATAAAAGACGATGAATGGAATATTTATCGCCGGTATACAGAGTTCAGGAGT
TTGCACCACAAGTTACAAAACAAGTACCCTCAAGTGAGGGCCTACAACTTCCCACCCAAAAAGGCCATTGGAAACAAGGATGCCAAGTTTGTGGAGGAACGGAGA
AAGCAGCTCCAGAATTACCTGCGCAGCGTCATGAACAAAGTCATCCAGATGGTCCCCGAGTTCGCTGCCAGCCCCAAGAAGGAGACCCTCATCCAGCTGATGCCC
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>SNX29|92017|protein
MHSWAPLKVLHNDSDILFPVSGVGSYSPADAPLGSLENGTGPEDHVLPDPGLRYSVEASSPGHGSPLSSLLPSASVPESMTISELRQATVAMMNRKDELEEENRS
LRNLLDGEMEHSAALRQEVDTLKRKVAEQEERQGMKVQALARENEVLKVQLKKYVGAVQMLKREGQTAEVPNLWSVDGEVTVAEQKPGEIAEELASSYERKLIEV
AEMHGELIEFNERLHRALVAKEALVSQMRQELIDLRGPVPGDLSQTSEDQSLSDFEISNRALINVWIPSVFLRGKAANAFHVYQVYIRIKDDEWNIYRRYTEFRS
LHHKLQNKYPQVRAYNFPPKKAIGNKDAKFVEERRKQLQNYLRSVMNKVIQMVPEFAASPKKETLIQLMPFFVDITPPGEPVNSRPKAASRFPKLSRGQPRETRN
VEPQSGDL
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MHSWAPLKVLHNDSDILFPVSGVGSYSPADAPLGSLENGTGPEDHVLPDPGLRYSVEASSPGHGSPLSSLLPSASVPESMTISELRQATVAMMNRKDELEEENRS
LRNLLDGEMEHSAALRQEVDTLKRKVAEQEERQGMKVQALARENEVLKVQLKKYVGAVQMLKREGQTAEVPNLWSVDGEVTVAEQKPGEIAEELASSYERKLIEV
AEMHGELIEFNERLHRALVAKEALVSQMRQELIDLRGPVPGDLSQTSEDQSLSDFEISNRALINVWIPSVFLRGKAANAFHVYQVYIRIKDDEWNIYRRYTEFRS
LHHKLQNKYPQVRAYNFPPKKAIGNKDAKFVEERRKQLQNYLRSVMNKVIQMVPEFAASPKKETLIQLMPFFVDITPPGEPVNSRPKAASRFPKLSRGQPRETRN
VEPQSGDL
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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) | 2 (6) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
McCauley, 2005 | - | microsatellite-based genomic screen | ![]() | ![]() | autism | 158 | - | 158 | - | 333 | - | - |
Monaco, 2001 | - | microsatellite-based genomic screen | ![]() | ![]() | PDD | 152 | - | 152 | - | - | - | - |
Liu, 2001 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism, ASD | 110 | - | 110 | - | - | - | - |
Lamb, 2005 | - | microsatellite-based genomic screen | ![]() | ![]() | autism | 207 | - | 207 | - | 420 | - | - |
Buxbaum, 2004 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism | 115 | - | 115 | - | - | - | - |
Spence, 2006 | USA | microsatellite-based genomic screen | ![]() | ![]() | ASD | 133 | - | 133 | - | 280 | - | - |






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. |






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