AutismKB 2.0

Evidence Details for NYNRIN


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Basic Information Top
Gene Symbol:NYNRIN ( CGIN1,FLJ11811,KIAA1305 )
Gene Full Name: NYN domain and retroviral integrase containing
Band: 14q12
Quick LinksEntrez ID:57523; OMIM: NA; Uniprot ID:NYNRI_HUMAN; ENSEMBL ID: ENSG00000205978; HGNC ID: 20165
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NYNRIN|57523|nucleotide
ATGCTCCTGTCTGGGGGCGATCCTCCGGCGCAGGAATGGTTCATGGTGCAGACAAAATCGAAGCCTCGGGTGCAGCGGCAGCGGCTGCAAGTGCAGCGCATCTTT
AGGGTCAAGCTGAACGCCTTCCAGAGCCGCCCGGACACCCCCTACTTCTGGCTACAGCTCGAGGGGCCCCGAGAGAACATGGGCAAAGCCAAGGAATACCTGAAG
GGCCTGTGCAGCCCAGAGCTGTGGAAAGAGGTTCGCTACCCACCGATCCTGCACTGTGCCTTCCTTGGGGCCCAAGGCCTCTTCCTGGACTGCCTCTGCTGGAGC
ACCCTTGCCTACCTGGTGCCTGGCCCCCCTGGCTCCCTGATGGTGGGCGGGCTGACTGAGTCTTTCATCATGACACAGAACTGGCTGGAGGAGCTGGTGGGGCGA
CTGCGCTGGGGCCCTGCCCCTCTGCTGACCCCCCGGGGGATCTGGGAGGCTGAGGTGACCCGGGCCTTTGGGGCCCTGGTCTGGATCCGTGGTGACCAGCATGCA
GGGGACCTACTGCAGCTGCCCCCAGCGGTCCAGGAGCTGCTGCTGAGCCTGGTGCGGGATGCTGCGGGCAAGGAAGACATCATCGAGTGGCTCAGCCGCTTCGGC
ATCTCTGACTCCCACTCCGATCCGGAGGTTCTAATCTGCCCTCCCCAGCAGCAGAAGGAAGCCCCAGCCATGGTGTCCGTGGGAGAGAGTCCTGGACCCTTTGTG
GACATGGGGACCCTCCAGAACAGGGGCCCAGAAAATTCAAAGAGATTATCTAGCCTGGGAGCCACTGGGTCCCTGATCACAGCCCAGAGCACACCGCAGGAGGCA
GCAAACCAGCTGGTACGGGTCGGTTCCAACAACCAAGATGGTATGGACAGTGCTCAAGAGGAAGGGACAGTGCAAGCCACCAGCAGCCAGGACTCCACGAACCAC
ACACAAGCCTTGTTGAAGCAAAGGCAGGTCCAGAAGATAGAAGATAAACTCCTCTTCCAACCTCCAGTATCAGCCCTGGGTGTGTGCCCACCCTGGAAGGCCTGG
ACCCCGGGGCCAGCCTTTGGGCCATTGTGGCCGGGGGCTATTGCTGCAACCTTCTGGAGGATCAATGAGCTGCATTCTCTACATCTGGCCTGGCTCCTGTCCCAG
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>NYNRIN|57523|protein
MLLSGGDPPAQEWFMVQTKSKPRVQRQRLQVQRIFRVKLNAFQSRPDTPYFWLQLEGPRENMGKAKEYLKGLCSPELWKEVRYPPILHCAFLGAQGLFLDCLCWS
TLAYLVPGPPGSLMVGGLTESFIMTQNWLEELVGRLRWGPAPLLTPRGIWEAEVTRAFGALVWIRGDQHAGDLLQLPPAVQELLLSLVRDAAGKEDIIEWLSRFG
ISDSHSDPEVLICPPQQQKEAPAMVSVGESPGPFVDMGTLQNRGPENSKRLSSLGATGSLITAQSTPQEAANQLVRVGSNNQDGMDSAQEEGTVQATSSQDSTNH
TQALLKQRQVQKIEDKLLFQPPVSALGVCPPWKAWTPGPAFGPLWPGAIAATFWRINELHSLHLAWLLSQACFNFPFWQRPLGPIQLKLPGQNPLPLNLEWKQKE
LAPLPSAESPAGRPDGGLGGEAALQNCPRPEISPKVTSLLVVPGSSDVKDKVSSDLPQIGPPLTSTPQLQAGGEPGDQGSMQLDFKGLEEGPAPVLPTGQGKPVA
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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 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
Ma, 2007 USA SNP-based genomic screenautism 26 - 26 - - - -
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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