AutismKB 2.0

Evidence Details for SEC61A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SEC61A2 ( FLJ10578 )
Gene Full Name: Sec61 alpha 2 subunit (S. cerevisiae)
Band: 10p14
Quick LinksEntrez ID:55176; OMIM: NA; Uniprot ID:S61A2_HUMAN; ENSEMBL ID: ENSG00000065665; HGNC ID: 17702
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEC61A2|55176|nucleotide
ATGGGCATCAAATTTTTAGAAGTTATCAAACCATTCTGTGCAGTTCTACCAGAAATTCAGAAACCGGAAAGGAAAATCCAGTTTAGAGAGAAGGTTCTGTGGACT
GCTATAACGCTCTTCATTTTCTTAGTGTGTTGTCAGATCCCACTGTTTGGAATCATGTCATCAGATTCTGCAGATCCTTTCTACTGGATGAGAGTTATTCTGGCT
TCCAATAGAGGAACTTTAATGGAATTGGGTATCTCCCCAATTGTAACATCTGGTTTGATTATGCAGTTGTTAGCTGGAGCCAAAATCATTGAAGTTGGAGATACA
CCGAAAGATAGAGCTTTATTCAATGGAGCCCAGAAACTGTTTGGTATGATCATTACCATTGGGCAAGCCATTGTGTATGTCATGACGGGGATGTATGGGGACCCT
GCAGAAATGGGTGCCGGAATCTGTCTCCTGATCATCATTCAGTTGTTTGTTGCTGGTTTGATTGTGCTGCTGTTAGATGAGCTGCTACAGAAGGGTTACGGCTTG
GGGTCTGGGATTTCCCTCTTTATTGCCACCAACATCTGTGAGACCATTGTCTGGAAGGCCTTTAGTCCCACTACCATTAACACTGGCAGAGGTACTGAGTTTGAG
GGTGCAGTCATAGCTCTGTTCCATTTGTTGGCCACCAGGACGGACAAAGTCCGAGCTTTACGGGAGGCTTTTTATCGGCAGAACTTACCCAATCTCATGAACCTC
ATTGCTACAGTTTTTGTGTTTGCTGTTGTTATATATTTCCAAGGATTTCGCGTTGATCTGCCCATTAAGTCGGCCCGTTACCGAGGACAGTACAGCAGCTACCCC
ATCAAACTCTTCTACACCTCCAACATCCCCATCATCCTCCAGTCGGCCCTGGTGTCCAACCTGTATGTTATTTCCCAGATGCTGTCTGTTCGATTTAGTGGCAAC
TTTTTAGTAAATTTACTAGGACAGTGGGCCGATGTCAGTGGGGGAGGACCCGCACGTTCTTACCCAGTTGGAGGCCTTTGTTACTATCTTTCTCCTCCTGAGTCC
ATGGGCGCCATCTTTGAGGATCCTGTCCATGTCGTTGTTTATATCATCTTCATGTTGGGGTCATGTGCATTCTTCTCTAAGACATGGATTGAAGTGTCTGGTTCC
Show »

>SEC61A2|55176|protein
MGIKFLEVIKPFCAVLPEIQKPERKIQFREKVLWTAITLFIFLVCCQIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT
PKDRALFNGAQKLFGMIITIGQAIVYVMTGMYGDPAEMGAGICLLIIIQLFVAGLIVLLLDELLQKGYGLGSGISLFIATNICETIVWKAFSPTTINTGRGTEFE
GAVIALFHLLATRTDKVRALREAFYRQNLPNLMNLIATVFVFAVVIYFQGFRVDLPIKSARYRGQYSSYPIKLFYTSNIPIILQSALVSNLYVISQMLSVRFSGN
FLVNLLGQWADVSGGGPARSYPVGGLCYYLSPPESMGAIFEDPVHVVVYIIFMLGSCAFFSKTWIEVSGSSAKDVAKQLKEQQMVMRGHRDTSMVHELNRPKVKL
RRWKGEGRHFTKRILFY
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 0 (0) 0 (0) 2 (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
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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