AutismKB 2.0

Evidence Details for NINL


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Basic Information Top
Gene Symbol:NINL ( FLJ11792,KIAA0980,NLP,dJ691N24.1 )
Gene Full Name: ninein-like
Band: 20p11.21
Quick LinksEntrez 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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>NINL|22981|protein
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 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018