Evidence Details for NRXN3
Basic Information Top
| Gene Symbol: | NRXN3 ( C14orf60,KIAA0743,MGC176711 ) |
|---|---|
| Gene Full Name: | neurexin 3 |
| Band: | 14q24.3-q31.1 |
| Quick Links | Entrez ID:9369; OMIM: 600567; Uniprot ID:NRX3A_HUMAN; ENSEMBL ID: ENSG00000021645; HGNC ID: 8010 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NRXN3|9369|nucleotide
ATGCACCTGAGAATCCACGCGAGACGGAGCCCTCCTCGCCGGCCGGCCTGGACGCTTGGGATCTGGTTCCTGTTCTGGGGATGTATCGTCAGCTCTGTATGGAGT
TCTTCTAATGTAGCTTCCTCCTCCTCCACCTCTTCCTCGCCGGGGTCTCACTCTCAGCACGAGCACCATTTCCATGGCAGCAAGCATCACTCAGTGCCTATTTCT
ATCTATCGTTCCCCTGTTTCCCTTCGAGGAGGACACGCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGG
CCCAGCACGCGGTCTGACCGCCTTGCCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAG
CTTCACATAGAACAGGGGAAAATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTG
GTACGCTTCACCAGGAACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCAACACTGATAATGAACGCTTCCAAATG
GTAAAACAGAAAATCCCCTTCAAATATAATCGGCCTGTAGAGGAGTGGCTGCAGGAAAAAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAGCCATT
GGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCCCAATATTAAA
ATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACTGTCATGGAAACCACT
ACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTGAATGTTCAAGTGATGATGAA
GACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGTGATCCGGGAGTCGAGCAGCACAACAGGG
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ATGCACCTGAGAATCCACGCGAGACGGAGCCCTCCTCGCCGGCCGGCCTGGACGCTTGGGATCTGGTTCCTGTTCTGGGGATGTATCGTCAGCTCTGTATGGAGT
TCTTCTAATGTAGCTTCCTCCTCCTCCACCTCTTCCTCGCCGGGGTCTCACTCTCAGCACGAGCACCATTTCCATGGCAGCAAGCATCACTCAGTGCCTATTTCT
ATCTATCGTTCCCCTGTTTCCCTTCGAGGAGGACACGCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGG
CCCAGCACGCGGTCTGACCGCCTTGCCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAG
CTTCACATAGAACAGGGGAAAATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTG
GTACGCTTCACCAGGAACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCAACACTGATAATGAACGCTTCCAAATG
GTAAAACAGAAAATCCCCTTCAAATATAATCGGCCTGTAGAGGAGTGGCTGCAGGAAAAAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAGCCATT
GGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCCCAATATTAAA
ATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACTGTCATGGAAACCACT
ACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTGAATGTTCAAGTGATGATGAA
GACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGTGATCCGGGAGTCGAGCAGCACAACAGGG
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>NRXN3|9369|protein
MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFHGSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTWPANDR
PSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPTGNTDNERFQM
VKQKIPFKYNRPVEEWLQEKGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETT
TTMATTTTRKNRSTASIQPTSDDLVSSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDE
TRNYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV
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MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFHGSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTWPANDR
PSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPTGNTDNERFQM
VKQKIPFKYNRPVEEWLQEKGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETT
TTMATTTTRKNRSTASIQPTSDDLVSSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDE
TRNYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV
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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) | 1 (4) | 1 (1) | 0 (1) | 0 (0) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 15 (9) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
| C Yuen RK, 2017 | - | WGS | | | ASD | - | - | - | - | 1745 | - | - |
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) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | |||||||||||
| Wang J, 2018_1 | China | - |  | | ASD | - - |
- | 1923 (12.48%) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Redin C, 2017 | 28 | - | 34 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.