ENST00000651202.1 TOR1A
Information
- Transcript ID
- ENST00000651202.1
- Genome
- hg19
- Position
- chr9:132,575,244-132,586,523
- Strand
- -
- CDS length
- 948
- Amino acid length
- 316
- Gene symbol
- TOR1A
- Gene type
- protein-coding
- Gene description
- torsin family 1 member A
- Gene Entrez Gene ID
- 1861
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 6 | 132,575,244 | 132,576,501 |
| 5 | 132,580,457 | 132,580,576 |
| 4 | 132,580,799 | 132,580,926 |
| 3 | 132,581,024 | 132,581,199 |
| 2 | 132,584,860 | 132,585,125 |
| 1 | 132,586,187 | 132,586,523 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 132,580,473 | 132,580,576 |
| 4 | CDS | 132,580,799 | 132,580,926 |
| 3 | CDS | 132,581,024 | 132,581,199 |
| 2 | CDS | 132,584,860 | 132,585,125 |
| 1 | CDS | 132,586,187 | 132,586,460 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr9 | 129,812,965 | 129,824,244 | Link |
CDS sequence
ATGGCCTCCGCGAGAGGAGGAACCGGAAGCGTGGGTCTGGCGGCTGCACCGGTTCGCGGTCGGCGCGAGAACAAGCAGGGTGGCGCGGGTCCGGGCATGAAGCTGGGCCGGGCCGTGCTGGGCCTGCTGCTGCTGGCGCCGTCCGTGGTGCAGGCGGTGGAGCCCATCAGCCTGGGACTGGCCCTGGCCGGCGTCCTCACCGGCTACATCTACCCGCGTCTCTACTGCCTCTTCGCCGAGTGCTGCGGGCAGAAGCGGAGCCTTAGCCGGGAGGCACTGCAGAAGGATCTGGACGACAACCTCTTTGGACAGCATCTTGCAAAGAAAATCATCTTAAATGCCGTGTTTGGTTTCATAAACAACCCAAAGCCCAAGAAACCTCTCACGCTCTCCCTGCACGGGTGGACAGGCACCGGCAAAAATTTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACAAGGATCAGTTACAGTTGTGGATTCGAGGCAACGTGAGTGCCTGTGCGAGGTCCATCTTCATATTTGATGAAATGGATAAGATGCATGCAGGCCTCATAGATGCCATCAAGCCTTTCCTCGACTATTATGACCTGGTGGATGGGGTCTCCTACCAGAAAGCCATGTTCATATTTCTCAGCAATGCTGGAGCAGAAAGGATCACAGATGTGGCTTTGGATTTCTGGAGGAGTGGAAAGCAGAGGGAAGACATCAAGCTCAAAGACATTGAACACGCGTTGTCTGTGTCGGTTTTCAATAACAAGAACAATAGTTTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTAACCTTGCCTCACTGCAACCTCTGCCTCCCGGGCTCAAGCGATTCTTGTGCCTCAGCCTCCTGA
Amino sequence
MASARGGTGSVGLAAAPVRGRRENKQGGAGPGMKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNNSFTLSPRLECSGVTLPHCNLCLPGSSDSCASAS*