AutismKB 2.0

Evidence Details for TSNARE1


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Basic Information Top
Gene Symbol:TSNARE1 ( FLJ31164,MGC142116 )
Gene Full Name: t-SNARE domain containing 1
Band: 8q24.3
Quick LinksEntrez ID:203062; OMIM: NA; Uniprot ID:TSNA1_HUMAN; ENSEMBL ID: ENSG00000171045; HGNC ID: 26437
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSNARE1|203062|nucleotide
ATGTCATACGGATCCATCGCCCGTGGAGGTGGCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCTGTCAGCCCCTAGAGTGCGCTAGATGTTGG
ACCGAGTATGGAATCCGCCATTTCCCCTGCCCGTCGCCAGAGAGCAAGCTGCAGAACCGCTGTGTGGGGAAGGACGGGGAAGGTGATCTGGGGCCAGCAGGCACG
CCTATTGTCCCAAGGGCCAGGAAGCGAGGGCCTGGGGTTGCCCCTGAAGGCAGCCGGATGCCGGAGCCCACCTCATCACCCACCATTGGCCCGAGGAAGGACTCG
GCTGCTGGGCCCCATGGCCGGATGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGGAAGCCCAACTTCTGCCCGCAGGAGACCGAGGTGCTGGTGTCCAAGGTG
AGCAAGCACCACCAGCTGCTGTTTGGCACGGGGCTGCTGAAGGCCGAGCCCACTCGCAGGTACCGCGTGTGGAGCCGCATCCTGCAGGCCGTGAATGCGCTGGGC
TACTGTCGCCGCGACGTTGTGGACCTGAAGCACAAGTGGCGGGACCTACGAGCCGTCGTGCGGCGCAAGCTGGGCGACCTCCGGAAGGCGGCCCATGGCCCCAGC
CCTGGTTCCGGCAAGCCCCAGGCCCTGGCTCTCACGCCCGTGGAGCAGGTGGTGGCCAAGACCTTCTCTTGCCAGGCCCTGCCCTCCGAGGGCTTCAGTCTGGAG
CCGCCCAGAGCCACCCAGGTCGATCCGTGCAACCTCCAGGAGCTGTTCCAGGAGATGTCGGCCAACGTCTTCCGAATCAACTCCAGTGTGACCTCCTTGGAGCGG
AGCCTTCAGTCCTTAGGGACACCGAGTGACACGCAGGAGCTTCGGGACAGCCTGCACACGGCACAGCAGGAGACCAACAAGACCATTGCAGCCAGCGCCAGCTCC
GTGAAGCAGATGGCCGAGCTGCTGCGCAGCTCCTGCCCGCAGGAGCGTCTGCAGCAGGAGCGTCCTCAGCTGGACCGGCTGAAAACCCAGCTCTCAGATGCCATT
CAGTGCTATGGAGTGGTGCAGAAGAAAATTGCAGAAAAGTCCAGAGCGCTGCTTCCCATGGCGCAGAGGGGCAGTAAACAGAGTCCCCAGGCCCCGTTTGCCGAG
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>TSNARE1|203062|protein
MSYGSIARGGGLGSRGPFGGPSRQGCQPLECARCWTEYGIRHFPCPSPESKLQNRCVGKDGEGDLGPAGTPIVPRARKRGPGVAPEGSRMPEPTSSPTIGPRKDS
AAGPHGRMAGPSTTRAKKRKPNFCPQETEVLVSKVSKHHQLLFGTGLLKAEPTRRYRVWSRILQAVNALGYCRRDVVDLKHKWRDLRAVVRRKLGDLRKAAHGPS
PGSGKPQALALTPVEQVVAKTFSCQALPSEGFSLEPPRATQVDPCNLQELFQEMSANVFRINSSVTSLERSLQSLGTPSDTQELRDSLHTAQQETNKTIAASASS
VKQMAELLRSSCPQERLQQERPQLDRLKTQLSDAIQCYGVVQKKIAEKSRALLPMAQRGSKQSPQAPFAELADDEKVFNGSDNMWQGQEQALLPDITEEDLEAIR
LREEAILQMESNLLDVNQIIKDLASMVSEQGEAVDSIEASLEAASSHAEAARQLLAGASRHQLQRHKIKCCFLSAGVTALLVIIIIIATSVRK
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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 (3) 0 (0) 0 (0) 0 (0) 0 (3)
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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