Evidence Details for NINL
Basic Information Top
Gene Symbol: | NINL ( FLJ11792,KIAA0980,NLP,dJ691N24.1 ) |
---|---|
Gene Full Name: | ninein-like |
Band: | 20p11.21 |
Quick Links | Entrez ID:22981; OMIM: 609580; Uniprot ID:NINL_HUMAN; ENSEMBL ID: ENSG00000101004; HGNC ID: 29163 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NINL|22981|nucleotide
ATGGATGAAGAAGAGAACCACTATGTCTCGCAGCTCAGGGAAGTCTACAGCAGCTGCGACACCACGGGGACTGGCTTTCTGGACCGCCAGGAGCTGACCCAGCTC
TGCCTTAAGCTTCACCTGGAGCAGCAGCTGCCCGTCCTCCTGCAGACGCTTCTCGGAAACGACCATTTCGCCAGGGTTAACTTTGAGGAATTTAAGGAAGGTTTT
GTGGCTGTGTTGTCTTCAAATGCTGGTGTTCGCCCCTCAGATGAAGACAGTAGTTCTTTGGAATCAGCTGCCTCCAGTGCCATCCCTCCAAAGTATGTGAATGGT
TCTAAGTGGTATGGCCGTCGGAGCCGGCCTGAGCTATGTGACGCTGCCACAGAAGCCAGACGCGTGCCGGAGCAGCAAACCCAGGCCAGCCTGAAAAGTCACCTC
TGGCGCTCAGCGTCTCTGGAGAGCGTGGAGAGTCCCAAGTCAGATGAAGAGGCCGAGAGCACTAAAGAAGCTCAGAATGAATTATTTGAAGCACAAGGACAGCTG
CAGACCTGGGATTCTGAGGACTTTGGGAGCCCCCAGAAGTCCTGCAGCCCCTCCTTTGACACCCCAGAGAGCCAGATCCGGGGCGTGTGGGAAGAGCTGGGGGTG
GGCAGCAGCGGACACCTGAGCGAGCAGGAGCTGGCTGTGGTCTGCCAGAGCGTCGGGCTCCAGGGACTCGAGAAAGAGGAACTCGAAGACCTGTTTAACAAACTG
GATCAAGACGGAGACGGCAAAGTGAGTCTTGAGGAATTCCAGCTTGGCCTCTTCAGTCATGAGCCCGCGCTACTTCTAGAGTCTTCCACTCGGGTTAAACCGAGC
AAGGCTTGGTCTCATTACCAGGTCCCAGAGGAGAGCGGCTGCCACACCACCACAACCTCATCCCTCGTGTCCCTGTGCTCCAGCCTGCGCCTCTTCTCCAGCATT
GACGATGGTTCTGGCTTCGCTTTTCCTGATCAGGTCCTGGCCATGTGGACCCAGGAGGGGATTCAGAATGGCAGGGAGATCTTGCAGAGCCTGGACTTCAGCGTG
GACGAGAAGGTGAACCTTCTGGAGCTGACCTGGGCCCTTGACAACGAGCTCATGACAGTGGACAGTGCCGTCCAGCAGGCAGCCCTGGCCTGCTACCACCAGGAG
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ATGGATGAAGAAGAGAACCACTATGTCTCGCAGCTCAGGGAAGTCTACAGCAGCTGCGACACCACGGGGACTGGCTTTCTGGACCGCCAGGAGCTGACCCAGCTC
TGCCTTAAGCTTCACCTGGAGCAGCAGCTGCCCGTCCTCCTGCAGACGCTTCTCGGAAACGACCATTTCGCCAGGGTTAACTTTGAGGAATTTAAGGAAGGTTTT
GTGGCTGTGTTGTCTTCAAATGCTGGTGTTCGCCCCTCAGATGAAGACAGTAGTTCTTTGGAATCAGCTGCCTCCAGTGCCATCCCTCCAAAGTATGTGAATGGT
TCTAAGTGGTATGGCCGTCGGAGCCGGCCTGAGCTATGTGACGCTGCCACAGAAGCCAGACGCGTGCCGGAGCAGCAAACCCAGGCCAGCCTGAAAAGTCACCTC
TGGCGCTCAGCGTCTCTGGAGAGCGTGGAGAGTCCCAAGTCAGATGAAGAGGCCGAGAGCACTAAAGAAGCTCAGAATGAATTATTTGAAGCACAAGGACAGCTG
CAGACCTGGGATTCTGAGGACTTTGGGAGCCCCCAGAAGTCCTGCAGCCCCTCCTTTGACACCCCAGAGAGCCAGATCCGGGGCGTGTGGGAAGAGCTGGGGGTG
GGCAGCAGCGGACACCTGAGCGAGCAGGAGCTGGCTGTGGTCTGCCAGAGCGTCGGGCTCCAGGGACTCGAGAAAGAGGAACTCGAAGACCTGTTTAACAAACTG
GATCAAGACGGAGACGGCAAAGTGAGTCTTGAGGAATTCCAGCTTGGCCTCTTCAGTCATGAGCCCGCGCTACTTCTAGAGTCTTCCACTCGGGTTAAACCGAGC
AAGGCTTGGTCTCATTACCAGGTCCCAGAGGAGAGCGGCTGCCACACCACCACAACCTCATCCCTCGTGTCCCTGTGCTCCAGCCTGCGCCTCTTCTCCAGCATT
GACGATGGTTCTGGCTTCGCTTTTCCTGATCAGGTCCTGGCCATGTGGACCCAGGAGGGGATTCAGAATGGCAGGGAGATCTTGCAGAGCCTGGACTTCAGCGTG
GACGAGAAGGTGAACCTTCTGGAGCTGACCTGGGCCCTTGACAACGAGCTCATGACAGTGGACAGTGCCGTCCAGCAGGCAGCCCTGGCCTGCTACCACCAGGAG
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>NINL|22981|protein
MDEEENHYVSQLREVYSSCDTTGTGFLDRQELTQLCLKLHLEQQLPVLLQTLLGNDHFARVNFEEFKEGFVAVLSSNAGVRPSDEDSSSLESAASSAIPPKYVNG
SKWYGRRSRPELCDAATEARRVPEQQTQASLKSHLWRSASLESVESPKSDEEAESTKEAQNELFEAQGQLQTWDSEDFGSPQKSCSPSFDTPESQIRGVWEELGV
GSSGHLSEQELAVVCQSVGLQGLEKEELEDLFNKLDQDGDGKVSLEEFQLGLFSHEPALLLESSTRVKPSKAWSHYQVPEESGCHTTTTSSLVSLCSSLRLFSSI
DDGSGFAFPDQVLAMWTQEGIQNGREILQSLDFSVDEKVNLLELTWALDNELMTVDSAVQQAALACYHQELSYQQGQVEQLARERDKARQDLERAEKRNLEFVKE
MDDCHSTLEQLTEKKIKHLEQGYRERLSLLRSEVEAERELFWEQAHRQRAALEWDVGRLQAEEAGLREKLTLALKENSRLQKEIVEVVEKLSDSERLALKLQKDL
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MDEEENHYVSQLREVYSSCDTTGTGFLDRQELTQLCLKLHLEQQLPVLLQTLLGNDHFARVNFEEFKEGFVAVLSSNAGVRPSDEDSSSLESAASSAIPPKYVNG
SKWYGRRSRPELCDAATEARRVPEQQTQASLKSHLWRSASLESVESPKSDEEAESTKEAQNELFEAQGQLQTWDSEDFGSPQKSCSPSFDTPESQIRGVWEELGV
GSSGHLSEQELAVVCQSVGLQGLEKEELEDLFNKLDQDGDGKVSLEEFQLGLFSHEPALLLESSTRVKPSKAWSHYQVPEESGCHTTTTSSLVSLCSSLRLFSSI
DDGSGFAFPDQVLAMWTQEGIQNGREILQSLDFSVDEKVNLLELTWALDNELMTVDSAVQQAALACYHQELSYQQGQVEQLARERDKARQDLERAEKRNLEFVKE
MDDCHSTLEQLTEKKIKHLEQGYRERLSLLRSEVEAERELFWEQAHRQRAALEWDVGRLQAEEAGLREKLTLALKENSRLQKEIVEVVEKLSDSERLALKLQKDL
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Evidence summary Top
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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