Evidence Details for OXT
Basic Information Top
Gene Symbol: | OXT ( MGC126890,MGC126892,OT,OT-NPI ) |
---|---|
Gene Full Name: | oxytocin, prepropeptide |
Band: | 20p13 |
Quick Links | Entrez ID:5020; OMIM: 167050; Uniprot ID:NEU1_HUMAN; ENSEMBL ID: ENSG00000101405; HGNC ID: 8528 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>OXT|5020|nucleotide
ATGGCCGGCCCCAGCCTCGCTTGCTGTCTGCTCGGCCTCCTGGCGCTGACCTCCGCCTGCTACATCCAGAACTGCCCCCTGGGAGGCAAGAGGGCCGCGCCGGAC
CTCGACGTGCGCAAGTGCCTCCCCTGCGGCCCCGGGGGCAAAGGCCGCTGCTTCGGGCCCAATATCTGCTGCGCGGAAGAGCTGGGCTGCTTCGTGGGCACCGCC
GAAGCGCTGCGCTGCCAGGAGGAGAACTACCTGCCGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCGCTGCGCGGTCTTGGGCCTCTGCTGC
AGCCCGGACGGCTGCCACGCCGACCCTGCCTGCGACGCGGAAGCCACCTTCTCCCAGCGCTGA
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ATGGCCGGCCCCAGCCTCGCTTGCTGTCTGCTCGGCCTCCTGGCGCTGACCTCCGCCTGCTACATCCAGAACTGCCCCCTGGGAGGCAAGAGGGCCGCGCCGGAC
CTCGACGTGCGCAAGTGCCTCCCCTGCGGCCCCGGGGGCAAAGGCCGCTGCTTCGGGCCCAATATCTGCTGCGCGGAAGAGCTGGGCTGCTTCGTGGGCACCGCC
GAAGCGCTGCGCTGCCAGGAGGAGAACTACCTGCCGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCGCTGCGCGGTCTTGGGCCTCTGCTGC
AGCCCGGACGGCTGCCACGCCGACCCTGCCTGCGACGCGGAAGCCACCTTCTCCCAGCGCTGA
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>OXT|5020|protein
MAGPSLACCLLGLLALTSACYIQNCPLGGKRAAPDLDVRKCLPCGPGGKGRCFGPNICCAEELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAVLGLCC
SPDGCHADPACDAEATFSQR
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MAGPSLACCLLGLLALTSACYIQNCPLGGKRAAPDLDVRKCLPCGPGGKGRCFGPNICCAEELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAVLGLCC
SPDGCHADPACDAEATFSQR
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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) | 0 (2) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Yrigollen, 2008_1 | USA | TaqMan SNP Genotyping Assays, ABI Prism 7900HT | 151 | 177 (12.99%) | ASD | 10.97 - |
96.65 - | |||
MIXED/OTHERS | ||||||||||
Hovey D, 2014_1 | Sweden | KBioscience | - | 1771 (-) | autistic-like traits | - - |
- - | |||
Francis SM, 2016_2 | Unknown | TaqMan | - | 108 (-) | ASD | 9.82 years - |
- - |
Case Control Based Association Studies: 0
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
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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