AutismKB 2.0

Evidence Details for ASMT


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Basic Information Top
Gene Symbol:ASMT ( ASMTY,HIOMT,HIOMTY )
Gene Full Name: acetylserotonin O-methyltransferase
Band: Xp22.3 and Yp11.3
Quick LinksEntrez ID:438; OMIM: 300015,402500; Uniprot ID:HIOM_HUMAN; ENSEMBL ID: ENSG00000196433; HGNC ID: 750
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASMT|438|nucleotide
ATGGGATCCTCAGAGGACCAGGCCTATCGCCTCCTTAATGACTACGCCAACGGCTTCATGGTGTCCCAGGTTCTCTTCGCCGCCTGCGAGCTGGGCGTGTTTGAC
CTTCTCGCCGAGGCCCCAGGGCCCCTGGACGTGGCGGCAGTGGCTGCAGGTGTGAGGGCCAGCGCCCATGGGACAGAGCTCCTGCTGGACATCTGTGTGTCCCTG
AAGCTGCTGAAAGTGGAGACGAGGGGAGGAAAAGCTTTCTATCGAAACACAGAGCTGTCCAGCGACTACCTGACCACGGTCAGCCCGACGTCACAATGCAGCATG
CTGAAGTACATGGGCAGGACCAGCTACCGGTGCTGGGGCCACCTGGCAGACGCCGTGAGAGAAGGAAGGAACCAGTACCTGGAGACGTTTGGCGTTCCCGCTGAA
GAGCTTTTTACGGCCATCTACAGGTCCGAGGGCGAGCGGCTACAGTTCATGCAAGCTCTGCAGGAGGTCTGGAGCGTCAACGGGAGAAGCGTGCTGACCGCCTTT
GACCTGTCAGTGTTCCCACTTATGTGTGACCTTGGTGGGACATGGATAAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACACCGC
GTGTTCTCACTCATAGGTGGGGCTGGAGCTCTGGCTAAGGAATGCATGTCTCTGTACCCTGGATGTAAGATCACCGTTTTTGACATCCCAGAAGTGGTGTGGACG
GCAAAGCAGCACTTCTCATTCCAGGAGGAAGAACAGATTGACTTCCAGGAAGGGGATTTCTTCAAAGACCCTCTTCCGGAAGCTGATCTGTACATCCTGGCCAGG
GTCCTCCATGACTGGGCAGACGGAAAGTGCTCACACCTGCTGGAGAGGATCTACCACACTTGCAAGCCAGGTGGTGGCATTCTGGTAATTGAAAGCCTCCTGGAT
GAAGACAGGCGAGGTCCTCTGCTCACGCAGCTCTACTCTCTGAACATGCTTGTGCAGACGGAAGGGCAGGAGAGGACCCCCACCCACTACCACATGCTCCTCTCT
TCTGCTGGCTTCAGAGACTTCCAGTTTAAGAAAACAGGAGCCATTTATGATGCCATTTTAGCCAGGAAATAA
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>ASMT|438|protein
MGSSEDQAYRLLNDYANGFMVSQVLFAACELGVFDLLAEAPGPLDVAAVAAGVRASAHGTELLLDICVSLKLLKVETRGGKAFYRNTELSSDYLTTVSPTSQCSM
LKYMGRTSYRCWGHLADAVREGRNQYLETFGVPAEELFTAIYRSEGERLQFMQALQEVWSVNGRSVLTAFDLSVFPLMCDLGGTWIKLETIILSKLSQGQKTKHR
VFSLIGGAGALAKECMSLYPGCKITVFDIPEVVWTAKQHFSFQEEEQIDFQEGDFFKDPLPEADLYILARVLHDWADGKCSHLLERIYHTCKPGGGILVIESLLD
EDRRGPLLTQLYSLNMLVQTEGQERTPTHYHMLLSSAGFRDFQFKKTGAIYDAILARK

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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) 1 (5) 0 (0) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4) 34 (14)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Thomas, 1999 - FISHautism - - - - 3 - 3
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 4
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Toma, 2007_3 IMGSAC sequence--ASD -
-
- 190
(-)
-
-
Toma, 2007_1 Finland sequence--ASD -
-
- 100
(-)
-
-
Toma, 2007_2 Italy sequence--ASD -
-
- 90
(-)
-
-
Melke, 2008_1 PARIS -ASD -
-
- 255
(-)
-
-
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.

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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