AutismKB 2.0

Evidence Details for NTN1


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Basic Information Top
Gene Symbol:NTN1 ( NTN1L )
Gene Full Name: netrin 1
Band: 17p13.1
Quick LinksEntrez ID:9423; OMIM: 601614; Uniprot ID:NET1_HUMAN; ENSEMBL ID: ENSG00000065320; HGNC ID: 8029
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NTN1|9423|nucleotide
ATGATGCGCGCAGTGTGGGAGGCGCTGGCGGCGCTGGCGGCGGTGGCGTGCCTGGTGGGCGCGGTGCGCGGCGGGCCCGGGCTCAGCATGTTCGCGGGCCAGGCG
GCGCAGCCCGATCCCTGCTCGGACGAGAACGGCCACCCGCGCCGCTGCATCCCGGACTTTGTCAATGCGGCCTTCGGCAAGGACGTGCGCGTGTCCAGCACCTGC
GGCCGGCCCCCGGCGCGCTACTGCGTGGTGAGCGAGCGCGGCGAGGAGCGGCTGCGCTCGTGCCACCTCTGCAACGCGTCCGACCCCAAGAAGGCGCACCCGCCC
GCCTTCCTCACCGACCTCAACAACCCGCACAACCTGACGTGCTGGCAGTCCGAGAACTACCTGCAGTTCCCGCACAACGTCACGCTCACACTGTCCCTCGGCAAG
AAGTTCGAAGTGACCTACGTGAGCCTGCAGTTCTGCTCGCCGCGGCCCGAGTCCATGGCCATCTACAAGTCCATGGACTACGGGCGCACGTGGGTGCCCTTCCAG
TTCTACTCCACGCAGTGCCGCAAGATGTACAACCGGCCGCACCGCGCGCCCATCACCAAGCAGAACGAGCAGGAGGCCGTGTGCACCGACTCGCACACCGACATG
CGCCCGCTCTCGGGCGGCCTCATCGCCTTCAGCACGCTGGACGGGCGGCCCTCGGCGCACGACTTCGACAACTCGCCCGTGCTGCAGGACTGGGTCACGGCCACA
GACATCCGCGTGGCCTTCAGCCGCCTGCACACGTTCGGCGACGAGAACGAGGACGACTCGGAGCTGGCGCGCGACTCGTACTTCTACGCGGTGTCCGACCTGCAG
GTGGGCGGCCGGTGCAAGTGCAACGGCCACGCGGCCCGCTGCGTGCGCGACCGCGACGACAGCCTGGTGTGCGACTGCAGGCACAACACGGCCGGCCCGGAGTGC
GACCGCTGCAAGCCCTTCCACTACGACCGGCCCTGGCAGCGCGCCACAGCCCGCGAAGCCAACGAGTGCGTGGCCTGTAACTGCAACCTGCATGCCCGGCGCTGC
CGCTTCAACATGGAGCTCTACAAGCTTTCGGGGCGCAAGAGCGGAGGTGTCTGCCTCAACTGTCGCCACAACACCGCCGGCCGCCACTGCCATTACTGCAAGGAG
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>NTN1|9423|protein
MMRAVWEALAALAAVACLVGAVRGGPGLSMFAGQAAQPDPCSDENGHPRRCIPDFVNAAFGKDVRVSSTCGRPPARYCVVSERGEERLRSCHLCNASDPKKAHPP
AFLTDLNNPHNLTCWQSENYLQFPHNVTLTLSLGKKFEVTYVSLQFCSPRPESMAIYKSMDYGRTWVPFQFYSTQCRKMYNRPHRAPITKQNEQEAVCTDSHTDM
RPLSGGLIAFSTLDGRPSAHDFDNSPVLQDWVTATDIRVAFSRLHTFGDENEDDSELARDSYFYAVSDLQVGGRCKCNGHAARCVRDRDDSLVCDCRHNTAGPEC
DRCKPFHYDRPWQRATAREANECVACNCNLHARRCRFNMELYKLSGRKSGGVCLNCRHNTAGRHCHYCKEGYYRDMGKPITHRKACKACDCHPVGAAGKTCNQTT
GQCPCKDGVTGITCNRCAKGYQQSRSPIAPCIKIPVAPPTTAASSVEEPEDCDSYCKASKGKLKINMKKYCKKDYAVQIHILKADKAGDWWKFTVNIISVYKQGT
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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) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
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.
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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