AutismKB 2.0

Evidence Details for SESN2


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Basic Information Top
Gene Symbol:SESN2 ( DKFZp761M0212,DKFZp761M02121,HI95,SES2,SEST2 )
Gene Full Name: sestrin 2
Band: 1p35.3
Quick LinksEntrez ID:83667; OMIM: 607767; Uniprot ID:SESN2_HUMAN; ENSEMBL ID: ENSG00000130766; HGNC ID: 20746
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SESN2|83667|nucleotide
ATGATCGTGGCGGACTCCGAGTGCCGCGCAGAGCTCAAGGACTACCTGCGGTTCGCCCCGGGCGGCGTCGGCGACTCGGGCCCCGGAGAGGAGCAGAGGGAGAGC
CGGGCTCGGCGAGGCCCTCGAGGGCCCAGCGCCTTCATCCCCGTGGAGGAGGTCCTTCGGGAGGGGGCTGAGAGCCTCGAGCAGCACCTGGGGCTGGAGGCACTG
ATGTCCTCTGGGCGAGTAGACAACCTGGCAGTGGTGATGGGCCTGCACCCTGACTACTTTACCAGCTTCTGGCGCCTGCACTACCTGCTGCTGCACACGGATGGT
CCCTTGGCCAGCTCCTGGCGCCACTACATTGCCATCATGGCTGCCGCCCGCCATCAGTGTTCTTACCTGGTAGGCTCCCACATGGCCGAGTTTCTGCAGACTGGT
GGTGACCCTGAGTGGCTGCTGGGCCTCCACCGGGCCCCCGAGAAGCTGCGCAAACTCAGCGAGATCAACAAGTTGCTGGCGCATCGGCCATGGCTCATCACCAAG
GAACACATCCAGGCCTTGCTGAAGACCGGCGAGCACACTTGGTCCCTGGCCGAGCTCATTCAGGCTCTGGTCCTGCTCACCCACTGCCACTCGCTCTCCTCCTTC
GTGTTTGGCTGTGGCATCCTCCCTGAGGGGGATGCAGATGGCAGCCCTGCCCCCCAGGCACCTACACCCCCTAGTGAACAGAGCAGCCCCCCAAGCAGGGACCCG
TTGAACAACTCTGGGGGCTTTGAGTCTGCCCGCGACGTGGAGGCGCTGATGGAGCGCATGCAGCAGCTGCAGGAGAGCCTGCTGCGGGATGAGGGGACGTCCCAG
GAGGAGATGGAGAGCCGCTTTGAGCTGGAGAAGTCAGAGAGCCTGCTGGTGACCCCCTCAGCTGACATCCTGGAGCCCTCTCCACACCCAGACATGCTGTGCTTT
GTGGAAGACCCTACTTTCGGATATGAGGACTTCACTCGGAGAGGGGCTCAGGCACCCCCTACCTTCCGGGCCCAGGATTATACCTGGGAAGACCATGGCTACTCG
CTGATCCAGCGGCTTTACCCTGAGGGTGGGCAGCTGCTGGATGAGAAGTTCCAGGCAGCCTATAGCCTCACCTACAATACCATCGCCATGCACAGTGGTGTGGAC
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>SESN2|83667|protein
MIVADSECRAELKDYLRFAPGGVGDSGPGEEQRESRARRGPRGPSAFIPVEEVLREGAESLEQHLGLEALMSSGRVDNLAVVMGLHPDYFTSFWRLHYLLLHTDG
PLASSWRHYIAIMAAARHQCSYLVGSHMAEFLQTGGDPEWLLGLHRAPEKLRKLSEINKLLAHRPWLITKEHIQALLKTGEHTWSLAELIQALVLLTHCHSLSSF
VFGCGILPEGDADGSPAPQAPTPPSEQSSPPSRDPLNNSGGFESARDVEALMERMQQLQESLLRDEGTSQEEMESRFELEKSESLLVTPSADILEPSPHPDMLCF
VEDPTFGYEDFTRRGAQAPPTFRAQDYTWEDHGYSLIQRLYPEGGQLLDEKFQAAYSLTYNTIAMHSGVDTSVLRRAIWNYIHCVFGIRYDDYDYGEVNQLLERN
LKVYIKTVACYPEKTTRRMYNLFWRHFRHSEKVHVNLLLLEARMQAALLYALRAITRYMT
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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 (0) 0 (0) 0 (1)
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.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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