Evidence Details for CACNA1G
Basic Information Top
| Gene Symbol: | CACNA1G ( Ca(V)T.1,Cav3.1,MGC117234,NBR13 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, T type, alpha 1G subunit |
| Band: | 17q21.33 |
| Quick Links | Entrez ID:8913; OMIM: 604065; Uniprot ID:CAC1G_HUMAN; ENSEMBL ID: ENSG00000006283; HGNC ID: 1394 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CACNA1G|8913|nucleotide
ATGGACGAGGAGGAGGATGGAGCGGGCGCCGAGGAGTCGGGACAGCCCCGGAGCTTCATGCGGCTCAACGACCTGTCGGGGGCCGGGGGCCGGCCGGGGCCGGGG
TCAGCAGAAAAGGACCCGGGCAGCGCGGACTCCGAGGCGGAGGGGCTGCCGTACCCGGCGCTGGCCCCGGTGGTTTTCTTCTACTTGAGCCAGGACAGCCGCCCG
CGGAGCTGGTGTCTCCGCACGGTCTGTAACCCCTGGTTTGAGCGCATCAGCATGTTGGTCATCCTTCTCAACTGCGTGACCCTGGGCATGTTCCGGCCATGCGAG
GACATCGCCTGTGACTCCCAGCGCTGCCGGATCCTGCAGGCCTTTGATGACTTCATCTTTGCCTTCTTTGCCGTGGAGATGGTGGTGAAGATGGTGGCCTTGGGC
ATCTTTGGGAAAAAGTGTTACCTGGGAGACACTTGGAACCGGCTTGACTTTTTCATCGTCATCGCAGGGATGCTGGAGTACTCGCTGGACCTGCAGAACGTCAGC
TTCTCAGCTGTCAGGACAGTCCGTGTGCTGCGACCGCTCAGGGCCATTAACCGGGTGCCCAGCATGCGCATCCTTGTCACGTTGCTGCTGGATACGCTGCCCATG
CTGGGCAACGTCCTGCTGCTCTGCTTCTTCGTCTTCTTCATCTTCGGCATCGTCGGCGTCCAGCTGTGGGCAGGGCTGCTTCGGAACCGATGCTTCCTACCTGAG
AATTTCAGCCTCCCCCTGAGCGTGGACCTGGAGCGCTATTACCAGACAGAGAACGAGGATGAGAGCCCCTTCATCTGCTCCCAGCCACGCGAGAACGGCATGCGG
TCCTGCAGAAGCGTGCCCACGCTGCGCGGGGACGGGGGCGGTGGCCCACCTTGCGGTCTGGACTATGAGGCCTACAACAGCTCCAGCAACACCACCTGTGTCAAC
TGGAACCAGTACTACACCAACTGCTCAGCGGGGGAGCACAACCCCTTCAAGGGCGCCATCAACTTTGACAACATTGGCTATGCCTGGATCGCCATCTTCCAGGTC
ATCACGCTGGAGGGCTGGGTCGACATCATGTACTTTGTGATGGATGCTCATTCCTTCTACAATTTCATCTACTTCATCCTCCTCATCATCGTGGGCTCCTTCTTC
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ATGGACGAGGAGGAGGATGGAGCGGGCGCCGAGGAGTCGGGACAGCCCCGGAGCTTCATGCGGCTCAACGACCTGTCGGGGGCCGGGGGCCGGCCGGGGCCGGGG
TCAGCAGAAAAGGACCCGGGCAGCGCGGACTCCGAGGCGGAGGGGCTGCCGTACCCGGCGCTGGCCCCGGTGGTTTTCTTCTACTTGAGCCAGGACAGCCGCCCG
CGGAGCTGGTGTCTCCGCACGGTCTGTAACCCCTGGTTTGAGCGCATCAGCATGTTGGTCATCCTTCTCAACTGCGTGACCCTGGGCATGTTCCGGCCATGCGAG
GACATCGCCTGTGACTCCCAGCGCTGCCGGATCCTGCAGGCCTTTGATGACTTCATCTTTGCCTTCTTTGCCGTGGAGATGGTGGTGAAGATGGTGGCCTTGGGC
ATCTTTGGGAAAAAGTGTTACCTGGGAGACACTTGGAACCGGCTTGACTTTTTCATCGTCATCGCAGGGATGCTGGAGTACTCGCTGGACCTGCAGAACGTCAGC
TTCTCAGCTGTCAGGACAGTCCGTGTGCTGCGACCGCTCAGGGCCATTAACCGGGTGCCCAGCATGCGCATCCTTGTCACGTTGCTGCTGGATACGCTGCCCATG
CTGGGCAACGTCCTGCTGCTCTGCTTCTTCGTCTTCTTCATCTTCGGCATCGTCGGCGTCCAGCTGTGGGCAGGGCTGCTTCGGAACCGATGCTTCCTACCTGAG
AATTTCAGCCTCCCCCTGAGCGTGGACCTGGAGCGCTATTACCAGACAGAGAACGAGGATGAGAGCCCCTTCATCTGCTCCCAGCCACGCGAGAACGGCATGCGG
TCCTGCAGAAGCGTGCCCACGCTGCGCGGGGACGGGGGCGGTGGCCCACCTTGCGGTCTGGACTATGAGGCCTACAACAGCTCCAGCAACACCACCTGTGTCAAC
TGGAACCAGTACTACACCAACTGCTCAGCGGGGGAGCACAACCCCTTCAAGGGCGCCATCAACTTTGACAACATTGGCTATGCCTGGATCGCCATCTTCCAGGTC
ATCACGCTGGAGGGCTGGGTCGACATCATGTACTTTGTGATGGATGCTCATTCCTTCTACAATTTCATCTACTTCATCCTCCTCATCATCGTGGGCTCCTTCTTC
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>CACNA1G|8913|protein
MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCE
DIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPM
LGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGLDYEAYNSSSNTTCVN
WNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIMYFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSSSCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRD
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MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCE
DIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPM
LGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGLDYEAYNSSSNTTCVN
WNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIMYFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSSSCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRD
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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 (1) | 0 (0) | 0 (0) | 3 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 14 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 2
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Strom, 2009_1 | AGRE | custom | 284 | 284 (0.00%) | | | ASD | 8.6 - |
- - | |
| Strom, 2009_2 | AGRE | AGRE Illumina HumanHap550 data | 556 | - (-) | | | ASD | - - |
- - | |
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 TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Turner TN, 2017 | - | Illumina X Ten | - | - | - | 476 | 476 | - | 2064 | 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.