AutismKB 2.0

Evidence Details for P2RY1


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Basic Information Top
Gene Symbol:P2RY1 ( P2Y1 )
Gene Full Name: purinergic receptor P2Y, G-protein coupled, 1
Band: 3q25.2
Quick LinksEntrez ID:5028; OMIM: 601167; Uniprot ID:P2RY1_HUMAN; ENSEMBL ID: ENSG00000169860; HGNC ID: 8539
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>P2RY1|5028|nucleotide
ATGACCGAGGTGCTGTGGCCGGCTGTCCCCAACGGGACGGACGCTGCCTTCCTGGCCGGTCCGGGTTCGTCCTGGGGGAACAGCACGGTCGCCTCCACTGCCGCC
GTCTCCTCGTCGTTCAAATGCGCCTTGACCAAGACGGGCTTCCAGTTTTACTACCTGCCGGCTGTCTACATCTTGGTATTCATCATCGGCTTCCTGGGCAACAGC
GTGGCCATCTGGATGTTCGTCTTCCACATGAAGCCCTGGAGCGGCATCTCCGTGTACATGTTCAATTTGGCTCTGGCCGACTTCTTGTACGTGCTGACTCTGCCA
GCCCTGATCTTCTACTACTTCAATAAAACAGACTGGATCTTCGGGGATGCCATGTGTAAACTGCAGAGGTTCATCTTTCATGTGAACCTCTATGGCAGCATCTTG
TTTCTGACATGCATCAGTGCCCACCGGTACAGCGGTGTGGTGTACCCCCTCAAGTCCCTGGGCCGGCTCAAAAAGAAGAATGCGATCTGTATCAGCGTGCTGGTG
TGGCTCATTGTGGTGGTGGCGATCTCCCCCATCCTCTTCTACTCAGGTACCGGGGTCCGCAAAAACAAAACCATCACCTGTTACGACACCACCTCAGACGAGTAC
CTGCGAAGTTATTTCATCTACAGCATGTGCACGACCGTGGCCATGTTCTGTGTCCCCTTGGTGCTGATTCTGGGCTGTTACGGATTAATTGTGAGAGCTTTGATT
TACAAAGATCTGGACAACTCTCCTCTGAGGAGAAAATCGATTTACCTGGTAATCATTGTACTGACTGTTTTTGCTGTGTCTTACATCCCTTTCCATGTGATGAAA
ACGATGAACTTGAGGGCCCGGCTTGATTTTCAGACCCCAGCAATGTGTGCTTTCAATGACAGGGTTTATGCCACGTATCAGGTGACAAGAGGTCTAGCAAGTCTC
AACAGTTGTGTGGACCCCATTCTCTATTTCTTGGCGGGAGATACTTTCAGAAGGAGACTCTCCCGAGCCACAAGGAAAGCTTCTAGAAGAAGTGAGGCAAATTTG
CAATCCAAGAGTGAAGACATGACCCTCAATATTTTACCTGAGTTCAAGCAGAATGGAGATACAAGCCTGTGA
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>P2RY1|5028|protein
MTEVLWPAVPNGTDAAFLAGPGSSWGNSTVASTAAVSSSFKCALTKTGFQFYYLPAVYILVFIIGFLGNSVAIWMFVFHMKPWSGISVYMFNLALADFLYVLTLP
ALIFYYFNKTDWIFGDAMCKLQRFIFHVNLYGSILFLTCISAHRYSGVVYPLKSLGRLKKKNAICISVLVWLIVVVAISPILFYSGTGVRKNKTITCYDTTSDEY
LRSYFIYSMCTTVAMFCVPLVLILGCYGLIVRALIYKDLDNSPLRRKSIYLVIIVLTVFAVSYIPFHVMKTMNLRARLDFQTPAMCAFNDRVYATYQVTRGLASL
NSCVDPILYFLAGDTFRRRLSRATRKASRRSEANLQSKSEDMTLNILPEFKQNGDTSL

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top