Evidence Details for GHSR
Basic Information Top
Gene Symbol: | GHSR ( - ) |
---|---|
Gene Full Name: | growth hormone secretagogue receptor |
Band: | 3q26.31 |
Quick Links | Entrez ID:2693; OMIM: 601898; Uniprot ID:GHSR_HUMAN; ENSEMBL ID: ENSG00000121853; HGNC ID: 4267 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GHSR|2693|nucleotide
ATGTGGAACGCGACGCCCAGCGAAGAGCCGGGGTTCAACCTCACACTGGCCGACCTGGACTGGGATGCTTCCCCCGGCAACGACTCGCTGGGCGACGAGCTGCTG
CAGCTCTTCCCCGCGCCGCTGCTGGCGGGCGTCACAGCCACCTGCGTGGCACTCTTCGTGGTGGGCATCGCTGGCAACCTGCTCACCATGCTGGTGGTGTCGCGC
TTCCGCGAGCTGCGCACCACCACCAACCTCTACCTGTCCAGCATGGCCTTCTCCGATCTGCTCATCTTCCTCTGCATGCCCCTGGACCTCGTTCGCCTCTGGCAG
TACCGGCCCTGGAACTTCGGCGACCTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAG
CGCTACTTCGCCATCTGCTTCCCACTCCGGGCCAAGGTGGTGGTCACCAAGGGGCGGGTGAAGCTGGTCATCTTCGTCATCTGGGCCGTGGCCTTCTGCAGCGCC
GGGCCCATCTTCGTGCTAGTCGGGGTGGAGCACGAGAACGGCACCGACCCTTGGGACACCAACGAGTGCCGCCCCACCGAGTTTGCGGTGCGCTCTGGACTGCTC
ACGGTCATGGTGTGGGTGTCCAGCATCTTCTTCTTCCTTCCTGTCTTCTGTCTCACGGTCCTCTACAGTCTCATCGGCAGGAAGCTGTGGCGGAGGAGGCGCGGC
GATGCTGTCGTGGGTGCCTCGCTCAGGGACCAGAACCACAAGCAAACCGTGAAAATGCTGGGTGGGTCTCAGCGCGCGCTCAGGCTTTCTCTCGCGGGTCCTATC
CTCTCCCTGTGCCTTCTCCCTTCTCTCTGA
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ATGTGGAACGCGACGCCCAGCGAAGAGCCGGGGTTCAACCTCACACTGGCCGACCTGGACTGGGATGCTTCCCCCGGCAACGACTCGCTGGGCGACGAGCTGCTG
CAGCTCTTCCCCGCGCCGCTGCTGGCGGGCGTCACAGCCACCTGCGTGGCACTCTTCGTGGTGGGCATCGCTGGCAACCTGCTCACCATGCTGGTGGTGTCGCGC
TTCCGCGAGCTGCGCACCACCACCAACCTCTACCTGTCCAGCATGGCCTTCTCCGATCTGCTCATCTTCCTCTGCATGCCCCTGGACCTCGTTCGCCTCTGGCAG
TACCGGCCCTGGAACTTCGGCGACCTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAG
CGCTACTTCGCCATCTGCTTCCCACTCCGGGCCAAGGTGGTGGTCACCAAGGGGCGGGTGAAGCTGGTCATCTTCGTCATCTGGGCCGTGGCCTTCTGCAGCGCC
GGGCCCATCTTCGTGCTAGTCGGGGTGGAGCACGAGAACGGCACCGACCCTTGGGACACCAACGAGTGCCGCCCCACCGAGTTTGCGGTGCGCTCTGGACTGCTC
ACGGTCATGGTGTGGGTGTCCAGCATCTTCTTCTTCCTTCCTGTCTTCTGTCTCACGGTCCTCTACAGTCTCATCGGCAGGAAGCTGTGGCGGAGGAGGCGCGGC
GATGCTGTCGTGGGTGCCTCGCTCAGGGACCAGAACCACAAGCAAACCGTGAAAATGCTGGGTGGGTCTCAGCGCGCGCTCAGGCTTTCTCTCGCGGGTCCTATC
CTCTCCCTGTGCCTTCTCCCTTCTCTCTGA
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>GHSR|2693|protein
MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNLYLSSMAFSDLLIFLCMPLDLVRLWQ
YRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRVKLVIFVIWAVAFCSAGPIFVLVGVEHENGTDPWDTNECRPTEFAVRSGLL
TVMVWVSSIFFFLPVFCLTVLYSLIGRKLWRRRRGDAVVGASLRDQNHKQTVKMLGGSQRALRLSLAGPILSLCLLPSL
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MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNLYLSSMAFSDLLIFLCMPLDLVRLWQ
YRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRVKLVIFVIWAVAFCSAGPIFVLVGVEHENGTDPWDTNECRPTEFAVRSGLL
TVMVWVSSIFFFLPVFCLTVLYSLIGRKLWRRRRGDAVVGASLRDQNHKQTVKMLGGSQRALRLSLAGPILSLCLLPSL
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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 (0) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | autism with FMR1-FM | autism | 15 (-) |
1.29 | Up | 0.0000029 | |||
| ||||||||||||
Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | autism with dup(15q) | autism | 15 (-) |
1.26 | Up | 0.0000029 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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