Evidence Details for ASMT
Basic Information Top
Gene Symbol: | ASMT ( ASMTY,HIOMT,HIOMTY ) |
---|---|
Gene Full Name: | acetylserotonin O-methyltransferase |
Band: | Xp22.3 and Yp11.3 |
Quick Links | Entrez 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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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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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 | - | FISH | autism | - | - | - | - | 3 | - | 3 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Laplana M, 2014 | - | aCGH | ASD | 1 | - | - | - | 1 | 5 | 6 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Melke, 2008_1 | PARIS | direct sequencing or TaqMan technology | 278 | 278 (27.70%) | ASD | - - |
- - |
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
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