Evidence Details for CHRM5
Basic Information Top
| Gene Symbol: | CHRM5 ( HM5,MGC41838 ) |
|---|---|
| Gene Full Name: | cholinergic receptor, muscarinic 5 |
| Band: | 15q14 |
| Quick Links | Entrez ID:1133; OMIM: 118496; Uniprot ID:ACM5_HUMAN; ENSEMBL ID: ENSG00000184984; HGNC ID: 1954 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHRM5|1133|nucleotide
ATGGAAGGGGATTCTTACCACAATGCAACCACCGTCAATGGCACCCCAGTAAATCACCAGCCTTTGGAACGCCACAGGTTGTGGGAAGTCATCACCATTGCAGCT
GTGACTGCTGTGGTAAGCCTGATCACCATTGTGGGCAATGTCTTGGTCATGATCTCCTTCAAAGTCAACAGCCAGCTCAAGACAGTTAACAACTATTACCTGCTC
AGCTTAGCCTGTGCAGATCTCATCATTGGAATCTTCTCCATGAACCTCTACACCACCTACATCCTCATGGGACGCTGGGCTCTCGGGAGTCTGGCTTGTGACCTT
TGGCTTGCACTGGACTACGTGGCCAGCAACGCTTCTGTCATGAACCTTCTGGTGATCAGTTTTGACCGTTACTTTTCCATCACAAGACCCTTGACATATCGGGCC
AAGCGTACTCCGAAAAGGGCTGGCATCATGATTGGCTTGGCCTGGCTGATCTCCTTCATCCTCTGGGCCCCAGCAATCCTCTGCTGGCAGTACTTGGTTGGGAAG
CGGACAGTTCCACTGGATGAGTGCCAGATCCAGTTTCTCTCTGAGCCCACCATCACTTTTGGCACTGCCATTGCTGCCTTCTACATCCCTGTTTCTGTCATGACC
ATCCTCTACTGTCGAATCTACCGGGAAACAGAGAAGCGAACCAAGGACCTGGCTGACCTCCAGGGTTCTGACTCTGTGACCAAAGCTGAGAAGAGAAAGCCAGCT
CATAGGGCTCTGTTCAGATCCTGCTTGCGCTGTCCTCGACCCACCCTGGCCCAGCGGGAAAGGAACCAGGCCTCCTGGTCATCCTCCCGCAGGAGCACCTCCACC
ACTGGGAAGCCATCCCAAGCCACTGGCCCAAGCGCCAATTGGGCCAAAGCTGAGCAGCTCACCACCTGTAGCAGCTACCCTTCCTCAGAGGATGAGGACAAGCCC
GCCACTGACCCTGTCCTCCAAGTGGTCTACAAGAGTCAGGGTAAGGAAAGCCCAGGGGAAGAATTCAGTGCTGAAGAGACTGAGGAAACTTTTGTGAAAGCTGAA
ACTGAAAAAAGTGACTATGACACCCCAAACTACCTTCTGTCTCCAGCAGCTGCTCATAGACCCAAGAGTCAGAAATGTGTGGCCTATAAGTTCCGATTGGTGGTA
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ATGGAAGGGGATTCTTACCACAATGCAACCACCGTCAATGGCACCCCAGTAAATCACCAGCCTTTGGAACGCCACAGGTTGTGGGAAGTCATCACCATTGCAGCT
GTGACTGCTGTGGTAAGCCTGATCACCATTGTGGGCAATGTCTTGGTCATGATCTCCTTCAAAGTCAACAGCCAGCTCAAGACAGTTAACAACTATTACCTGCTC
AGCTTAGCCTGTGCAGATCTCATCATTGGAATCTTCTCCATGAACCTCTACACCACCTACATCCTCATGGGACGCTGGGCTCTCGGGAGTCTGGCTTGTGACCTT
TGGCTTGCACTGGACTACGTGGCCAGCAACGCTTCTGTCATGAACCTTCTGGTGATCAGTTTTGACCGTTACTTTTCCATCACAAGACCCTTGACATATCGGGCC
AAGCGTACTCCGAAAAGGGCTGGCATCATGATTGGCTTGGCCTGGCTGATCTCCTTCATCCTCTGGGCCCCAGCAATCCTCTGCTGGCAGTACTTGGTTGGGAAG
CGGACAGTTCCACTGGATGAGTGCCAGATCCAGTTTCTCTCTGAGCCCACCATCACTTTTGGCACTGCCATTGCTGCCTTCTACATCCCTGTTTCTGTCATGACC
ATCCTCTACTGTCGAATCTACCGGGAAACAGAGAAGCGAACCAAGGACCTGGCTGACCTCCAGGGTTCTGACTCTGTGACCAAAGCTGAGAAGAGAAAGCCAGCT
CATAGGGCTCTGTTCAGATCCTGCTTGCGCTGTCCTCGACCCACCCTGGCCCAGCGGGAAAGGAACCAGGCCTCCTGGTCATCCTCCCGCAGGAGCACCTCCACC
ACTGGGAAGCCATCCCAAGCCACTGGCCCAAGCGCCAATTGGGCCAAAGCTGAGCAGCTCACCACCTGTAGCAGCTACCCTTCCTCAGAGGATGAGGACAAGCCC
GCCACTGACCCTGTCCTCCAAGTGGTCTACAAGAGTCAGGGTAAGGAAAGCCCAGGGGAAGAATTCAGTGCTGAAGAGACTGAGGAAACTTTTGTGAAAGCTGAA
ACTGAAAAAAGTGACTATGACACCCCAAACTACCTTCTGTCTCCAGCAGCTGCTCATAGACCCAAGAGTCAGAAATGTGTGGCCTATAAGTTCCGATTGGTGGTA
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>CHRM5|1133|protein
MEGDSYHNATTVNGTPVNHQPLERHRLWEVITIAAVTAVVSLITIVGNVLVMISFKVNSQLKTVNNYYLLSLACADLIIGIFSMNLYTTYILMGRWALGSLACDL
WLALDYVASNASVMNLLVISFDRYFSITRPLTYRAKRTPKRAGIMIGLAWLISFILWAPAILCWQYLVGKRTVPLDECQIQFLSEPTITFGTAIAAFYIPVSVMT
ILYCRIYRETEKRTKDLADLQGSDSVTKAEKRKPAHRALFRSCLRCPRPTLAQRERNQASWSSSRRSTSTTGKPSQATGPSANWAKAEQLTTCSSYPSSEDEDKP
ATDPVLQVVYKSQGKESPGEEFSAEETEETFVKAETEKSDYDTPNYLLSPAAAHRPKSQKCVAYKFRLVVKADGNQETNNGCHKVKIMPCPFPVAKEPSTKGLNP
NPSHQMTKRKRVVLVKERKAAQTLSAILLAFIITWTPYNIMVLVSTFCDKCVPVTLWHLGYWLCYVNSTVNPICYALCNRTFRKTFKMLLLCRWKKKKVEEKLYW
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MEGDSYHNATTVNGTPVNHQPLERHRLWEVITIAAVTAVVSLITIVGNVLVMISFKVNSQLKTVNNYYLLSLACADLIIGIFSMNLYTTYILMGRWALGSLACDL
WLALDYVASNASVMNLLVISFDRYFSITRPLTYRAKRTPKRAGIMIGLAWLISFILWAPAILCWQYLVGKRTVPLDECQIQFLSEPTITFGTAIAAFYIPVSVMT
ILYCRIYRETEKRTKDLADLQGSDSVTKAEKRKPAHRALFRSCLRCPRPTLAQRERNQASWSSSRRSTSTTGKPSQATGPSANWAKAEQLTTCSSYPSSEDEDKP
ATDPVLQVVYKSQGKESPGEEFSAEETEETFVKAETEKSDYDTPNYLLSPAAAHRPKSQKCVAYKFRLVVKADGNQETNNGCHKVKIMPCPFPVAKEPSTKGLNP
NPSHQMTKRKRVVLVKERKAAQTLSAILLAFIITWTPYNIMVLVSTFCDKCVPVTLWHLGYWLCYVNSTVNPICYALCNRTFRKTFKMLLLCRWKKKKVEEKLYW
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Evidence summary TopClick 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 | 1 (2) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 2
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| de Krom, 2008_2 | Replication | Illumina 96 Golden Gate bead array | 128 (14.06%) |  | | ASD | - (4-18) |
- | 273 (-) |
- - | ||
| de Krom, 2008_1 | Discovery | the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). | 144 (17.36%) | | | ASD | - (4-18) |
- | 404 (-) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Philippe, 1999 | Sweden, France, Norway, Italy, Austria, Belgium, U | microsatellite-based genomic screen | |  | autism | 51 | - | 51 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.