AutismKB 2.0

Evidence Details for MCHR1


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Basic Information Top
Gene Symbol:MCHR1 ( GPR24,MCH1R,MGC32129,SLC1 )
Gene Full Name: melanin-concentrating hormone receptor 1
Band: 22q13.2
Quick LinksEntrez ID:2847; OMIM: 601751; Uniprot ID:MCHR1_HUMAN; ENSEMBL ID: ENSG00000128285; HGNC ID: 4479
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCHR1|2847|nucleotide
ATGTCAGTGGGAGCCATGAAGAAGGGAGTGGGGAGGGCAGTTGGGCTTGGAGGCGGCAGCGGCTGCCAGGCTACGGAGGAAGACCCCCTTCCCAACTGCGGGGCT
TGCGCTCCGGGACAAGGTGGCAGGCGCTGGAGGCTGCCGCAGCCTGCGTGGGTGGAGGGGAGCTCAGCTCGGTTGTGGGAGCAGGCGACCGGCACTGGCTGGATG
GACCTGGAAGCCTCGCTGCTGCCCACTGGTCCCAACGCCAGCAACACCTCTGATGGCCCCGATAACCTCACTTCGGCAGGATCACCTCCTCGCACGGGGAGCATC
TCCTACATCAACATCATCATGCCTTCGGTGTTCGGCACCATCTGCCTCCTGGGCATCATCGGGAACTCCACGGTCATCTTCGCGGTCGTGAAGAAGTCCAAGCTG
CACTGGTGCAACAACGTCCCCGACATCTTCATCATCAACCTCTCGGTAGTAGATCTCCTCTTTCTCCTGGGCATGCCCTTCATGATCCACCAGCTCATGGGCAAT
GGGGTGTGGCACTTTGGGGAGACCATGTGCACCCTCATCACGGCCATGGATGCCAATAGTCAGTTCACCAGCACCTACATCCTGACCGCCATGGCCATTGACCGC
TACCTGGCCACTGTCCACCCCATCTCTTCCACGAAGTTCCGGAAGCCCTCTGTGGCCACCCTGGTGATCTGCCTCCTGTGGGCCCTCTCCTTCATCAGCATCACC
CCTGTGTGGCTGTATGCCAGACTCATCCCCTTCCCAGGAGGTGCAGTGGGCTGCGGCATACGCCTGCCCAACCCAGACACTGACCTCTACTGGTTCACCCTGTAC
CAGTTTTTCCTGGCCTTTGCCCTGCCTTTTGTGGTCATCACAGCCGCATACGTGAGGATCCTGCAGCGCATGACGTCCTCAGTGGCCCCCGCCTCCCAGCGCAGC
ATCCGGCTGCGGACAAAGAGGGTGACCCGCACAGCCATCGCCATCTGTCTGGTCTTCTTTGTGTGCTGGGCACCCTACTATGTGCTACAGCTGACCCAGTTGTCC
ATCAGCCGCCCGACCCTCACCTTTGTCTACTTATACAATGCGGCCATCAGCTTGGGCTATGCCAACAGCTGCCTCAACCCCTTTGTGTACATCGTGCTCTGTGAG
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>MCHR1|2847|protein
MSVGAMKKGVGRAVGLGGGSGCQATEEDPLPNCGACAPGQGGRRWRLPQPAWVEGSSARLWEQATGTGWMDLEASLLPTGPNASNTSDGPDNLTSAGSPPRTGSI
SYINIIMPSVFGTICLLGIIGNSTVIFAVVKKSKLHWCNNVPDIFIINLSVVDLLFLLGMPFMIHQLMGNGVWHFGETMCTLITAMDANSQFTSTYILTAMAIDR
YLATVHPISSTKFRKPSVATLVICLLWALSFISITPVWLYARLIPFPGGAVGCGIRLPNPDTDLYWFTLYQFFLAFALPFVVITAAYVRILQRMTSSVAPASQRS
IRLRTKRVTRTAIAICLVFFVCWAPYYVLQLTQLSISRPTLTFVYLYNAAISLGYANSCLNPFVYIVLCETFRKRLVLSVKPAAQGQLRAVSNAQTADEERTESK
GT
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top