ENST00000524862.6 BSCL2
Information
- Transcript ID
- ENST00000524862.6
- Genome
- hg38
- Position
- chr11:62,690,295-62,709,536
- Strand
- -
- CDS length
- 1,389
- Amino acid length
- 463
- Gene symbol
- BSCL2
- Gene type
- protein-coding
- Gene description
- BSCL2 lipid droplet biogenesis associated, seipin
- Gene Entrez Gene ID
- 26580
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| 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 |
|---|---|---|
| 12 | 62,690,295 | 62,690,521 |
| 11 | 62,690,612 | 62,690,692 |
| 10 | 62,690,787 | 62,690,867 |
| 9 | 62,691,075 | 62,691,141 |
| 8 | 62,691,280 | 62,691,421 |
| 7 | 62,692,376 | 62,692,473 |
| 6 | 62,692,663 | 62,692,797 |
| 5 | 62,694,568 | 62,694,711 |
| 4 | 62,702,468 | 62,702,549 |
| 3 | 62,705,301 | 62,705,617 |
| 2 | 62,707,109 | 62,707,324 |
| 1 | 62,709,264 | 62,709,536 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 12 | CDS | 62,690,367 | 62,690,521 |
| 11 | CDS | 62,690,612 | 62,690,692 |
| 10 | CDS | 62,690,787 | 62,690,867 |
| 9 | CDS | 62,691,075 | 62,691,141 |
| 8 | CDS | 62,691,280 | 62,691,421 |
| 7 | CDS | 62,692,376 | 62,692,473 |
| 6 | CDS | 62,692,663 | 62,692,797 |
| 5 | CDS | 62,694,568 | 62,694,711 |
| 4 | CDS | 62,702,468 | 62,702,549 |
| 3 | CDS | 62,705,301 | 62,705,617 |
| 2 | CDS | 62,707,109 | 62,707,195 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr11 | 62,457,767 | 62,477,008 | Link |
CDS sequence
ATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGACCAGATCAAAGGACCGGACAAAGAGGAGGAACCACCAGCTGCTGCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGGGTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGATACCTGCTATACAACTTCCCGATGACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCTACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGGCCTGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGATCCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGCGGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCTTTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTAGAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAGTTCCTGA
Amino sequence
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*