Evidence Details for CACNA1D
Basic Information Top
| Gene Symbol: | CACNA1D ( CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, L type, alpha 1D subunit |
| Band: | 3p21.1 |
| Quick Links | Entrez ID:776; OMIM: 114206; Uniprot ID:CAC1D_HUMAN; ENSEMBL ID: ENSG00000157388; HGNC ID: 1391 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CACNA1D|776|nucleotide
ATGATGATGATGATGATGATGAAAAAAATGCAGCATCAACGGCAGCAGCAAGCGGACCACGCGAACGAGGCAAACTATGCAAGAGGCACCAGACTTCCTCTTTCT
GGTGAAGGACCAACTTCTCAGCCGAATAGCTCCAAGCAAACTGTCCTGTCTTGGCAAGCTGCAATCGATGCTGCTAGACAGGCCAAGGCTGCCCAAACTATGAGC
ACCTCTGCACCCCCACCTGTAGGATCTCTCTCCCAAAGAAAACGTCAGCAATACGCCAAGAGCAAAAAACAGGGTAACTCGTCCAACAGCCGACCTGCCCGCGCC
CTTTTCTGTTTATCACTCAATAACCCCATCCGAAGAGCCTGCATTAGTATAGTGGAATGGAAACCATTTGACATATTTATATTATTGGCTATTTTTGCCAATTGT
GTGGCCTTAGCTATTTACATCCCATTCCCTGAAGATGATTCTAATTCAACAAATCATAACTTGGAAAAAGTAGAATATGCCTTCCTGATTATTTTTACAGTCGAG
ACATTTTTGAAGATTATAGCGTATGGATTATTGCTACATCCTAATGCTTATGTTAGGAATGGATGGAATTTACTGGATTTTGTTATAGTAATAGTAGGATTGTTT
AGTGTAATTTTGGAACAATTAACCAAAGAAACAGAAGGCGGGAACCACTCAAGCGGCAAATCTGGAGGCTTTGATGTCAAAGCCCTCCGTGCCTTTCGAGTGTTG
CGACCACTTCGACTAGTGTCAGGAGTGCCCAGTTTACAAGTTGTCCTGAACTCCATTATAAAAGCCATGGTTCCCCTCCTTCACATAGCCCTTTTGGTATTATTT
GTAATCATAATCTATGCTATTATAGGATTGGAACTTTTTATTGGAAAAATGCACAAAACATGTTTTTTTGCTGACTCAGATATCGTAGCTGAAGAGGACCCAGCT
CCATGTGCGTTCTCAGGGAATGGACGCCAGTGTACTGCCAATGGCACGGAATGTAGGAGTGGCTGGGTTGGCCCGAACGGAGGCATCACCAACTTTGATAACTTT
GCCTTTGCCATGCTTACTGTGTTTCAGTGCATCACCATGGAGGGCTGGACAGATGTGCTCTACTGGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTAT
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ATGATGATGATGATGATGATGAAAAAAATGCAGCATCAACGGCAGCAGCAAGCGGACCACGCGAACGAGGCAAACTATGCAAGAGGCACCAGACTTCCTCTTTCT
GGTGAAGGACCAACTTCTCAGCCGAATAGCTCCAAGCAAACTGTCCTGTCTTGGCAAGCTGCAATCGATGCTGCTAGACAGGCCAAGGCTGCCCAAACTATGAGC
ACCTCTGCACCCCCACCTGTAGGATCTCTCTCCCAAAGAAAACGTCAGCAATACGCCAAGAGCAAAAAACAGGGTAACTCGTCCAACAGCCGACCTGCCCGCGCC
CTTTTCTGTTTATCACTCAATAACCCCATCCGAAGAGCCTGCATTAGTATAGTGGAATGGAAACCATTTGACATATTTATATTATTGGCTATTTTTGCCAATTGT
GTGGCCTTAGCTATTTACATCCCATTCCCTGAAGATGATTCTAATTCAACAAATCATAACTTGGAAAAAGTAGAATATGCCTTCCTGATTATTTTTACAGTCGAG
ACATTTTTGAAGATTATAGCGTATGGATTATTGCTACATCCTAATGCTTATGTTAGGAATGGATGGAATTTACTGGATTTTGTTATAGTAATAGTAGGATTGTTT
AGTGTAATTTTGGAACAATTAACCAAAGAAACAGAAGGCGGGAACCACTCAAGCGGCAAATCTGGAGGCTTTGATGTCAAAGCCCTCCGTGCCTTTCGAGTGTTG
CGACCACTTCGACTAGTGTCAGGAGTGCCCAGTTTACAAGTTGTCCTGAACTCCATTATAAAAGCCATGGTTCCCCTCCTTCACATAGCCCTTTTGGTATTATTT
GTAATCATAATCTATGCTATTATAGGATTGGAACTTTTTATTGGAAAAATGCACAAAACATGTTTTTTTGCTGACTCAGATATCGTAGCTGAAGAGGACCCAGCT
CCATGTGCGTTCTCAGGGAATGGACGCCAGTGTACTGCCAATGGCACGGAATGTAGGAGTGGCTGGGTTGGCCCGAACGGAGGCATCACCAACTTTGATAACTTT
GCCTTTGCCATGCTTACTGTGTTTCAGTGCATCACCATGGAGGGCTGGACAGATGTGCTCTACTGGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTAT
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>CACNA1D|776|protein
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAARQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARA
LFCLSLNNPIRRACISIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLF
SVILEQLTKETEGGNHSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKTCFFADSDIVAEEDPA
PCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAIGWEWPWVYFVSLIILGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVSGEGENRGCCGSLWCWWRRRGAAKAGPSGCRRWGQAISKSKLSRRW
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MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAARQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARA
LFCLSLNNPIRRACISIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLF
SVILEQLTKETEGGNHSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKTCFFADSDIVAEEDPA
PCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAIGWEWPWVYFVSLIILGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVSGEGENRGCCGSLWCWWRRRGAAKAGPSGCRRWGQAISKSKLSRRW
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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 | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS 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.