ENST00000679883.1 BSCL2

Information
Transcript ID
ENST00000679883.1
Genome
hg38
Position
chr11:62,690,275-62,709,537
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 :
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 62,690,275 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 62,709,147 62,709,537
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 62,457,747 62,477,009 Link
CDS sequence
ATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGACCAGATCAAAGGACCGGACAAAGAGGAGGAACCACCAGCTGCTGCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGGGTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGATACCTGCTATACAACTTCCCGATGACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCTACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGGCCTGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGATCCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGCGGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCTTTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTAGAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAGTTCCTGA
Amino sequence
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS*