Evidence Details for CACNA1C
Basic Information Top
| Gene Symbol: | CACNA1C ( CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,MGC120730,TS ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, L type, alpha 1C subunit |
| Band: | 12p13.33 |
| Quick Links | Entrez ID:775; OMIM: 114205; Uniprot ID:CAC1C_HUMAN; ENSEMBL ID: ENSG00000151067; HGNC ID: 1390 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CACNA1C|775|nucleotide
ATGGTCAATGAGAATACGAGGATGTACATTCCAGAGGAAAACCACCAAGGTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCA
GCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGATGGGCAGCGCTGGCAAT
GCGACCATCTCCACAGTCAGCTCCACGCAGCGGAAGCGGCAGCAATATGGGAAACCCAAGAAGCAGGGCAGCACCACGGCCACACGCCCGCCCCGAGCCCTGCTC
TGCCTGACCCTGAAGAACCCCATCCGGAGGGCCTGCATCAGCATTGTCGAATGGAAACCATTTGAAATAATTATTTTACTGACTATTTTTGCCAATTGTGTGGCC
TTAGCGATCTATATTCCCTTTCCAGAAGATGATTCCAACGCCACCAATTCCAACCTGGAACGAGTGGAATATCTCTTTCTCATAATTTTTACGGTGGAAGCGTTT
TTAAAAGTAATCGCCTATGGACTCCTCTTTCACCCCAATGCCTACCTCCGCAACGGCTGGAACCTACTAGATTTTATAATTGTGGTTGTGGGGCTTTTTAGTGCA
ATTTTAGAACAAGCAACCAAAGCAGATGGGGCAAACGCTCTCGGAGGGAAAGGGGCCGGATTTGATGTGAAGGCGCTGAGGGCCTTCCGCGTGCTGCGCCCCCTG
CGGCTGGTGTCCGGAGTCCCAAGTCTCCAGGTGGTCCTGAATTCCATCATCAAGGCCATGGTCCCCCTGCTGCACATCGCCCTGCTTGTGCTGTTTGTCATCATC
ATCTACGCCATCATCGGCTTGGAGCTCTTCATGGGGAAGATGCACAAGACCTGCTACAACCAGGAGGGCATAGCAGATGTTCCAGCAGAAGATGACCCTTCCCCT
TGTGCGCTGGAAACGGGCCACGGGCGGCAGTGCCAGAACGGCACGGTGTGCAAGCCCGGCTGGGATGGTCCCAAGCACGGCATCACCAACTTTGACAACTTTGCC
TTCGCCATGCTCACGGTGTTCCAGTGCATCACCATGGAGGGCTGGACGGACGTGCTGTACTGGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTT
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ATGGTCAATGAGAATACGAGGATGTACATTCCAGAGGAAAACCACCAAGGTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCA
GCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGATGGGCAGCGCTGGCAAT
GCGACCATCTCCACAGTCAGCTCCACGCAGCGGAAGCGGCAGCAATATGGGAAACCCAAGAAGCAGGGCAGCACCACGGCCACACGCCCGCCCCGAGCCCTGCTC
TGCCTGACCCTGAAGAACCCCATCCGGAGGGCCTGCATCAGCATTGTCGAATGGAAACCATTTGAAATAATTATTTTACTGACTATTTTTGCCAATTGTGTGGCC
TTAGCGATCTATATTCCCTTTCCAGAAGATGATTCCAACGCCACCAATTCCAACCTGGAACGAGTGGAATATCTCTTTCTCATAATTTTTACGGTGGAAGCGTTT
TTAAAAGTAATCGCCTATGGACTCCTCTTTCACCCCAATGCCTACCTCCGCAACGGCTGGAACCTACTAGATTTTATAATTGTGGTTGTGGGGCTTTTTAGTGCA
ATTTTAGAACAAGCAACCAAAGCAGATGGGGCAAACGCTCTCGGAGGGAAAGGGGCCGGATTTGATGTGAAGGCGCTGAGGGCCTTCCGCGTGCTGCGCCCCCTG
CGGCTGGTGTCCGGAGTCCCAAGTCTCCAGGTGGTCCTGAATTCCATCATCAAGGCCATGGTCCCCCTGCTGCACATCGCCCTGCTTGTGCTGTTTGTCATCATC
ATCTACGCCATCATCGGCTTGGAGCTCTTCATGGGGAAGATGCACAAGACCTGCTACAACCAGGAGGGCATAGCAGATGTTCCAGCAGAAGATGACCCTTCCCCT
TGTGCGCTGGAAACGGGCCACGGGCGGCAGTGCCAGAACGGCACGGTGTGCAAGCCCGGCTGGGATGGTCCCAAGCACGGCATCACCAACTTTGACAACTTTGCC
TTCGCCATGCTCACGGTGTTCCAGTGCATCACCATGGAGGGCTGGACGGACGTGCTGTACTGGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTT
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>CACNA1C|775|protein
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAARQAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALL
CLTLKNPIRRACISIVEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA
ILEQATKADGANALGGKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYNQEGIADVPAEDDPSP
CALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVAGGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNV
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MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAARQAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALL
CLTLKNPIRRACISIVEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA
ILEQATKADGANALGGKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYNQEGIADVPAEDDPSP
CALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVAGGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNV
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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) | Yes | 0 (0) | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 1 (1) | 1 (3) | 0 (0) | 23 (8) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Timothy syndrome (601005) |
| Description | Timothy syndrome (long QT syndrome with syndactyly). Among 5 children with Timothy syndrome, 3 had autism, one had ASD, and one had severe language delay |
| Reference(s) | 15454078; 20301577; |
| Level | Level 4: The disorder is a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| C Yuen RK, 2017 | - | WGS |  | | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| MIXED/OTHERS | ||||||||||
| Li J, 2015_1 | China | FBAT;Haploview | 553 | 553 (-) |  | | autism | 6 years - |
- 1659 | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Brett M, 2014 | - | Illumina HiSeq2000 | - | - | autism | - | - | - | 8 | Sanger sequencing |
| Alvarez-Mora MI, 2016 | - | Illumina MiSeq | | | ASD | - | - | - | 44 | Sanger sequencing |
| Wen Z, 2017 | China | Illumina HiSeq 2500 | | | ASD | - | - | - | 120 | Sanger sequencing |
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.