ENST00000392111.7 BCS1L

Information
Transcript ID
ENST00000392111.7
Genome
hg19
Position
chr2:219,524,406-219,528,166
Strand
+
CDS length
1,260
Amino acid length
420
Gene symbol
BCS1L
Gene type
protein-coding
Gene description
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Gene Entrez Gene ID
617
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
1 219,524,406 219,524,466
2 219,524,760 219,524,968
3 219,525,662 219,526,030
4 219,526,129 219,526,268
5 219,526,482 219,526,676
6 219,526,920 219,526,983
7 219,527,233 219,527,402
8 219,527,606 219,527,723
9 219,527,857 219,528,166
CDS
Exon number Type Start Stop
3 CDS 219,525,711 219,526,030
4 CDS 219,526,129 219,526,268
5 CDS 219,526,482 219,526,676
6 CDS 219,526,920 219,526,983
7 CDS 219,527,233 219,527,402
8 CDS 219,527,606 219,527,723
9 CDS 219,527,857 219,528,109
Other genome
Genome Chromosome Start End Links
hg38 chr2 218,659,683 218,663,443 Link
CDS sequence
ATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGA
Amino sequence
MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR*