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_1 | Discovery | the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). | 144 (17.36%) |  | | ASD | - (4-18) |
- | 404 (-) |
- - | ||
| de Krom, 2008_2 | Replication | Illumina 96 Golden Gate bead array | 128 (14.06%) | | | ASD | - (4-18) |
- | 273 (-) |
- - | ||
CNV Studies TopLinkage Studies Top