Evidence Details for NXPH1
Basic Information Top
| Gene Symbol: | NXPH1 ( NPH1 ) |
|---|---|
| Gene Full Name: | neurexophilin 1 |
| Band: | 7p21.3 |
| Quick Links | Entrez ID:30010; OMIM: 604639; Uniprot ID:NXPH1_HUMAN; ENSEMBL ID: ENSG00000122584; HGNC ID: 20693 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NXPH1|30010|nucleotide
ATGCAGGCTGCGTGCTGGTACGTGCTTTTCCTCCTGCAGCCCACCGTCTACTTGGTCACATGTGCCAATTTAACGAACGGTGGAAAGTCAGAACTTCTGAAATCA
GGAAGCAGCAAATCCACACTAAAGCACATATGGACAGAAAGCAGCAAAGACTTGTCTATCAGCCGACTCCTGTCACAGACTTTTCGTGGCAAAGAGAATGATACA
GATTTGGACCTGAGATATGACACCCCAGAACCTTATTCTGAGCAAGACCTCTGGGACTGGCTGAGGAACTCCACAGACCTTCAAGAGCCTCGGCCCAGGGCCAAG
AGAAGGCCCATTGTTAAAACGGGCAAGTTTAAGAAAATGTTTGGATGGGGCGATTTTCATTCCAACATCAAAACAGTGAAGCTGAACCTGTTGATAACTGGGAAA
ATTGTAGATCATGGCAATGGGACATTTAGTGTTTATTTCAGGCATAATTCAACTGGTCAAGGGAATGTATCTGTCAGCTTGGTACCCCCTACAAAAATCGTGGAA
TTTGACTTGGCACAACAAACCGTGATTGATGCCAAAGATTCCAAGTCTTTTAATTGTCGCATTGAATATGAAAAGGTTGACAAGGCTACCAAGAACACACTCTGC
AACTATGACCCTTCAAAAACCTGTTACCAGGAGCAAACCCAAAGTCATGTATCCTGGCTCTGCTCCAAGCCCTTTAAGGTGATCTGTATTTACATTTCCTTTTAT
AGTACAGATTATAAACTGGTACAGAAAGTGTGCCCTGACTACAACTACCACAGTGACACACCTTACTTTCCCTCGGGATGA
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ATGCAGGCTGCGTGCTGGTACGTGCTTTTCCTCCTGCAGCCCACCGTCTACTTGGTCACATGTGCCAATTTAACGAACGGTGGAAAGTCAGAACTTCTGAAATCA
GGAAGCAGCAAATCCACACTAAAGCACATATGGACAGAAAGCAGCAAAGACTTGTCTATCAGCCGACTCCTGTCACAGACTTTTCGTGGCAAAGAGAATGATACA
GATTTGGACCTGAGATATGACACCCCAGAACCTTATTCTGAGCAAGACCTCTGGGACTGGCTGAGGAACTCCACAGACCTTCAAGAGCCTCGGCCCAGGGCCAAG
AGAAGGCCCATTGTTAAAACGGGCAAGTTTAAGAAAATGTTTGGATGGGGCGATTTTCATTCCAACATCAAAACAGTGAAGCTGAACCTGTTGATAACTGGGAAA
ATTGTAGATCATGGCAATGGGACATTTAGTGTTTATTTCAGGCATAATTCAACTGGTCAAGGGAATGTATCTGTCAGCTTGGTACCCCCTACAAAAATCGTGGAA
TTTGACTTGGCACAACAAACCGTGATTGATGCCAAAGATTCCAAGTCTTTTAATTGTCGCATTGAATATGAAAAGGTTGACAAGGCTACCAAGAACACACTCTGC
AACTATGACCCTTCAAAAACCTGTTACCAGGAGCAAACCCAAAGTCATGTATCCTGGCTCTGCTCCAAGCCCTTTAAGGTGATCTGTATTTACATTTCCTTTTAT
AGTACAGATTATAAACTGGTACAGAAAGTGTGCCCTGACTACAACTACCACAGTGACACACCTTACTTTCCCTCGGGATGA
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>NXPH1|30010|protein
MQAACWYVLFLLQPTVYLVTCANLTNGGKSELLKSGSSKSTLKHIWTESSKDLSISRLLSQTFRGKENDTDLDLRYDTPEPYSEQDLWDWLRNSTDLQEPRPRAK
RRPIVKTGKFKKMFGWGDFHSNIKTVKLNLLITGKIVDHGNGTFSVYFRHNSTGQGNVSVSLVPPTKIVEFDLAQQTVIDAKDSKSFNCRIEYEKVDKATKNTLC
NYDPSKTCYQEQTQSHVSWLCSKPFKVICIYISFYSTDYKLVQKVCPDYNYHSDTPYFPSG
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MQAACWYVLFLLQPTVYLVTCANLTNGGKSELLKSGSSKSTLKHIWTESSKDLSISRLLSQTFRGKENDTDLDLRYDTPEPYSEQDLWDWLRNSTDLQEPRPRAK
RRPIVKTGKFKKMFGWGDFHSNIKTVKLNLLITGKIVDHGNGTFSVYFRHNSTGQGNVSVSLVPPTKIVEFDLAQQTVIDAKDSKSFNCRIEYEKVDKATKNTLC
NYDPSKTCYQEQTQSHVSWLCSKPFKVICIYISFYSTDYKLVQKVCPDYNYHSDTPYFPSG
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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) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 10 (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 | ||||||
| Cukier, 2011 | - | SNP microarray |  | | ASD | 1 | - | 1 | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
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.