AutismKB 2.0

Evidence Details for RTP2


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Basic Information Top
Gene Symbol:RTP2 ( MGC78665 )
Gene Full Name: receptor (chemosensory) transporter protein 2
Band: 3q27.3
Quick LinksEntrez ID:344892; OMIM: 609138; Uniprot ID:RTP2_HUMAN; ENSEMBL ID: ENSG00000198471; HGNC ID: 32486
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RTP2|344892|nucleotide
ATGTGTACCAGCTTGACCACTTGTGAGTGGAAGAAAGTCTTCTATGAGAAGATGGAGGTGGCAAAGCCAGCGGACAGCTGGGAGCTCATCATAGACCCCAACCTC
AAGCCCAGTGAGCTGGCCCCTGGCTGGAAGCAGTACCTGGAGCAGCACGCCTCAGGCAGGTTCCACTGCTCCTGGTGCTGGCACACCTGGCAGTCTGCCCATGTG
GTCATCCTCTTCCACATGTTCCTGGACCGCGCCCAGCGGGCGGGCTCGGTGCGCATGCGCGTCTTCAAGCAGCTGTGCTATGAGTGCGGCACGGCGCGGCTGGAC
GAGTCCAGCATGCTGGAGGAGAACATCGAGGGCCTGGTGGACAACCTCATCACCAGCCTGCGCGAGCAGTGCTACGAGGAGGATGGTGGCCAGTACCGCATCCAC
GTGGCCAGCCGCCCGGACAGCGGGCCGCATCGTGCAGAGTTCTGTGAGGCCTGCCAGGAGGGCATCGTTCACTGGAAGCCCAGCGAGAAGCTGCTGGAGGAGGAG
GTGACCACCTACACCTCTGAAGCCTCCAAGCCGAGGGCCCAGGCGGGATCCGGCTACAACTTCTTGTCTCTTCGCTGGTGCCTCTTCTGGGCCTCTCTCTGCCTG
CTCGTTGTTTACCTGCAGTTCTCCTTCCTCAGTCCTGCCTTCTTTTAG




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>RTP2|344892|protein
MCTSLTTCEWKKVFYEKMEVAKPADSWELIIDPNLKPSELAPGWKQYLEQHASGRFHCSWCWHTWQSAHVVILFHMFLDRAQRAGSVRMRVFKQLCYECGTARLD
ESSMLEENIEGLVDNLITSLREQCYEEDGGQYRIHVASRPDSGPHRAEFCEACQEGIVHWKPSEKLLEEEVTTYTSEASKPRAQAGSGYNFLSLRWCLFWASLCL
LVVYLQFSFLSPAFF


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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top