Evidence Details for NIPAL1
Basic Information Top
| Gene Symbol: | NIPAL1 ( DKFZp686A06115,NPAL1 ) |
|---|---|
| Gene Full Name: | NIPA-like domain containing 1 |
| Band: | 4p12 |
| Quick Links | Entrez ID:152519; OMIM: NA; Uniprot ID:NIPA3_HUMAN; ENSEMBL ID: ENSG00000163293; HGNC ID: 27194 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NIPAL1|152519|nucleotide
ATGGGGGCACAGGTGAGGCTGCCGCCCGGAGAGCCCTGCCGAGAAGGATATGTGCTGTCTCTGGTCTGTCCAAACTCCTCCCAGGCTTGGTGTGAGATCACAAAT
GTGTCACAGCTGCTGGCTTCTCCTGTGCTCTACACGGACCTGAATTACAGCATAAACAACTTGAGCATTTCAGCAAATGTAGAAAACAAATACAGTCTTTATGTG
GGCTTGGTACTGGCAGTAAGCTCAAGTATTTTTATTGGCTCCAGCTTCATACTGAAAAAGAAGGGCCTCTTGCAACTGGCCAGCAAGGGCTTTACTAGAGCTGGA
CAAGGTGGACATTCTTACCTGAAGGAATGGCTCTGGTGGGTAGGATTGCTGTCAATGGGAGCAGGAGAGGCTGCAAATTTTGCTGCTTATGCTTTTGCACCTGCC
ACCTTGGTCACCCCTCTGGGTGCTTTGAGTGTTCTCATAAGTGCAATATTATCTTCCTACTTTTTAAACGAGCACTTGAACATTCATGGGAAAATAGGCTGCATA
TTAAGTATATTGGGGTCAACTGTGATGGTTATCCATGCCCCACAAGAAGAGGAAGTCACATCTTTGCATGAAATGGAAATGAAATTGAGAGACCCAGGGTTTATT
TCCTTTGCTGTGATCATAACTGTGATCTCCTTGGTGCTGATTTTGATTGTGGCTCCCAAGAAAGGACAGACCAATATATTGGTTTATATTTCAATCTGTTCCTTG
ATTGGAGCGTTTTCAGTTTCTTCTGTGAAAGGCCTGGGAATTGCCATTAAGGAGCTGATAGAATGGAAGCCAGTTTACAAACATCCGCTGGTCTTTGTTTTGCTG
GCTGTACTTGTGCTTTCAGTAACTACACAGATTAACTATCTCAACAAGGCACTGGACACCTTTAATACCTCTCTTGTGACACCCATTTATTATGTATTCTTCACA
TCCATGGTAGTGACTTGCTCTGCCATCTTATTCCAAGAGTGGTATGGCATGACAGCTGGAGATATCATTGGGACCCTGAGTGGATTCTTCACTATTATCATTGGC
ATCTTCCTTCTACATGCTTTTAAAAATACTGACATTACTTGGAGTGAGCTTACATCCACTGCTAAGAAAGAAGCCGTCTCTCTGAATGTCAATGAAAACAATTAT
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ATGGGGGCACAGGTGAGGCTGCCGCCCGGAGAGCCCTGCCGAGAAGGATATGTGCTGTCTCTGGTCTGTCCAAACTCCTCCCAGGCTTGGTGTGAGATCACAAAT
GTGTCACAGCTGCTGGCTTCTCCTGTGCTCTACACGGACCTGAATTACAGCATAAACAACTTGAGCATTTCAGCAAATGTAGAAAACAAATACAGTCTTTATGTG
GGCTTGGTACTGGCAGTAAGCTCAAGTATTTTTATTGGCTCCAGCTTCATACTGAAAAAGAAGGGCCTCTTGCAACTGGCCAGCAAGGGCTTTACTAGAGCTGGA
CAAGGTGGACATTCTTACCTGAAGGAATGGCTCTGGTGGGTAGGATTGCTGTCAATGGGAGCAGGAGAGGCTGCAAATTTTGCTGCTTATGCTTTTGCACCTGCC
ACCTTGGTCACCCCTCTGGGTGCTTTGAGTGTTCTCATAAGTGCAATATTATCTTCCTACTTTTTAAACGAGCACTTGAACATTCATGGGAAAATAGGCTGCATA
TTAAGTATATTGGGGTCAACTGTGATGGTTATCCATGCCCCACAAGAAGAGGAAGTCACATCTTTGCATGAAATGGAAATGAAATTGAGAGACCCAGGGTTTATT
TCCTTTGCTGTGATCATAACTGTGATCTCCTTGGTGCTGATTTTGATTGTGGCTCCCAAGAAAGGACAGACCAATATATTGGTTTATATTTCAATCTGTTCCTTG
ATTGGAGCGTTTTCAGTTTCTTCTGTGAAAGGCCTGGGAATTGCCATTAAGGAGCTGATAGAATGGAAGCCAGTTTACAAACATCCGCTGGTCTTTGTTTTGCTG
GCTGTACTTGTGCTTTCAGTAACTACACAGATTAACTATCTCAACAAGGCACTGGACACCTTTAATACCTCTCTTGTGACACCCATTTATTATGTATTCTTCACA
TCCATGGTAGTGACTTGCTCTGCCATCTTATTCCAAGAGTGGTATGGCATGACAGCTGGAGATATCATTGGGACCCTGAGTGGATTCTTCACTATTATCATTGGC
ATCTTCCTTCTACATGCTTTTAAAAATACTGACATTACTTGGAGTGAGCTTACATCCACTGCTAAGAAAGAAGCCGTCTCTCTGAATGTCAATGAAAACAATTAT
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>NIPAL1|152519|protein
MGAQVRLPPGEPCREGYVLSLVCPNSSQAWCEITNVSQLLASPVLYTDLNYSINNLSISANVENKYSLYVGLVLAVSSSIFIGSSFILKKKGLLQLASKGFTRAG
QGGHSYLKEWLWWVGLLSMGAGEAANFAAYAFAPATLVTPLGALSVLISAILSSYFLNEHLNIHGKIGCILSILGSTVMVIHAPQEEEVTSLHEMEMKLRDPGFI
SFAVIITVISLVLILIVAPKKGQTNILVYISICSLIGAFSVSSVKGLGIAIKELIEWKPVYKHPLVFVLLAVLVLSVTTQINYLNKALDTFNTSLVTPIYYVFFT
SMVVTCSAILFQEWYGMTAGDIIGTLSGFFTIIIGIFLLHAFKNTDITWSELTSTAKKEAVSLNVNENNYVLLENLECSAPGYNDDVTLFSRTDD
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MGAQVRLPPGEPCREGYVLSLVCPNSSQAWCEITNVSQLLASPVLYTDLNYSINNLSISANVENKYSLYVGLVLAVSSSIFIGSSFILKKKGLLQLASKGFTRAG
QGGHSYLKEWLWWVGLLSMGAGEAANFAAYAFAPATLVTPLGALSVLISAILSSYFLNEHLNIHGKIGCILSILGSTVMVIHAPQEEEVTSLHEMEMKLRDPGFI
SFAVIITVISLVLILIVAPKKGQTNILVYISICSLIGAFSVSSVKGLGIAIKELIEWKPVYKHPLVFVLLAVLVLSVTTQINYLNKALDTFNTSLVTPIYYVFFT
SMVVTCSAILFQEWYGMTAGDIIGTLSGFFTIIIGIFLLHAFKNTDITWSELTSTAKKEAVSLNVNENNYVLLENLECSAPGYNDDVTLFSRTDD
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (2) |
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 | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top