AutismKB 2.0

Evidence Details for PTGER3


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Basic Information Top
Gene Symbol:PTGER3 ( EP3,EP3-I,EP3-II,EP3-III,EP3-IV,EP3e,MGC141828,MGC141829,MGC27302 )
Gene Full Name: prostaglandin E receptor 3 (subtype EP3)
Band: 1p31.1
Quick LinksEntrez ID:5733; OMIM: 176806; Uniprot ID:PE2R3_HUMAN; ENSEMBL ID: ENSG00000050628; HGNC ID: 9595
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTGER3|5733|nucleotide
ATGAAGGAGACCCGGGGCTACGGAGGGGATGCCCCCTTCTGCACCCGCCTCAACCACTCCTACACAGGCATGTGGGCGCCCGAGCGTTCCGCCGAGGCGCGGGGC
AACCTCACGCGCCCTCCAGGGTCTGGCGAGGATTGCGGATCGGTGTCCGTGGCCTTCCCGATCACCATGCTGCTCACTGGTTTCGTGGGCAACGCACTGGCCATG
CTGCTCGTGTCGCGCAGCTACCGGCGCCGGGAGAGCAAGCGCAAGAAGTCCTTCCTGCTGTGCATCGGCTGGCTGGCGCTCACCGACCTGGTCGGGCAGCTTCTC
ACCACCCCGGTCGTCATCGTCGTGTACCTGTCCAAGCAGCGTTGGGAGCACATCGACCCGTCGGGGCGGCTCTGCACCTTTTTCGGGCTGACCATGACTGTTTTC
GGGCTCTCCTCGTTGTTCATCGCCAGCGCCATGGCCGTCGAGCGGGCGCTGGCCATCAGGGCGCCGCACTGGTATGCGAGCCACATGAAGACGCGTGCCACCCGC
GCTGTGCTGCTCGGCGTGTGGCTGGCCGTGCTCGCCTTCGCCCTGCTGCCGGTGCTGGGCGTGGGCCAGTACACCGTCCAGTGGCCCGGGACGTGGTGCTTCATC
AGCACCGGGCGAGGGGGCAACGGGACTAGCTCTTCGCATAACTGGGGCAACCTTTTCTTCGCCTCTGCCTTTGCCTTCCTGGGGCTCTTGGCGCTGACAGTCACC
TTTTCCTGCAACCTGGCCACCATTAAGGCCCTGGTGTCCCGCTGCCGGGCCAAGGCCACGGCATCTCAGTCCAGTGCCCAGTGGGGCCGCATCACGACCGAGACG
GCCATTCAGCTTATGGGGATCATGTGCGTGCTGTCGGTCTGCTGGTCTCCGCTCCTGATAATGATGTTGAAAATGATCTTCAATCAGACATCAGTTGAGCACTGC
AAGACACACACGGAGAAGCAGAAAGAATGCAACTTCTTCTTAATAGCTGTTCGCCTGGCTTCACTGAACCAGATCTTGGATCCTTGGGTTTACCTGCTGTTAAGA
AAGATCCTTCTTCGAAAGTTTTGCCAGATCAGGTACCACACAAACAACTATGCATCCAGCTCCACCTCCTTACCCTGCCAGTGTTCCTCAACCTTGATGTGGAGC
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>PTGER3|5733|protein
MKETRGYGGDAPFCTRLNHSYTGMWAPERSAEARGNLTRPPGSGEDCGSVSVAFPITMLLTGFVGNALAMLLVSRSYRRRESKRKKSFLLCIGWLALTDLVGQLL
TTPVVIVVYLSKQRWEHIDPSGRLCTFFGLTMTVFGLSSLFIASAMAVERALAIRAPHWYASHMKTRATRAVLLGVWLAVLAFALLPVLGVGQYTVQWPGTWCFI
STGRGGNGTSSSHNWGNLFFASAFAFLGLLALTVTFSCNLATIKALVSRCRAKATASQSSAQWGRITTETAIQLMGIMCVLSVCWSPLLIMMLKMIFNQTSVEHC
KTHTEKQKECNFFLIAVRLASLNQILDPWVYLLLRKILLRKFCQIRYHTNNYASSSTSLPCQCSSTLMWSDHLER

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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
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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