ENST00000348513.12 SMARCE1

Information
Transcript ID
ENST00000348513.12
Genome
hg38
Position
chr17:40,624,962-40,647,818
Strand
-
CDS length
1,236
Amino acid length
412
Gene symbol
SMARCE1
Gene type
protein-coding
Gene description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Gene Entrez Gene ID
6605
Variants

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Target data :
MGeND data only
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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
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
11 40,624,962 40,628,993
10 40,630,714 40,630,924
9 40,631,592 40,631,693
8 40,632,195 40,632,367
7 40,635,931 40,636,102
6 40,636,395 40,636,526
5 40,637,492 40,637,572
4 40,642,455 40,642,559
3 40,645,576 40,645,619
2 40,645,796 40,645,847
1 40,647,773 40,647,818
CDS
Exon number Type Start Stop
11 CDS 40,628,785 40,628,993
10 CDS 40,630,714 40,630,924
9 CDS 40,631,592 40,631,693
8 CDS 40,632,195 40,632,367
7 CDS 40,635,931 40,636,102
6 CDS 40,636,395 40,636,526
5 CDS 40,637,492 40,637,572
4 CDS 40,642,455 40,642,559
3 CDS 40,645,576 40,645,619
2 CDS 40,645,796 40,645,802
Other genome
Genome Chromosome Start End Links
hg19 chr17 38,781,214 38,804,070 Link
CDS sequence
ATGTCAAAAAGACCATCTTATGCCCCACCTCCCACCCCAGCTCCTGCAACACAAATGCCCAGCACACCAGGGTTTGTGGGATACAATCCATACAGTCATCTCGCCTACAACAACTACAGGCTGGGAGGGAACCCGGGCACCAACAGCCGGGTCACGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTCTGGGACCAAGTAAAGGCTTCCAACCCTGACCTAAAGTTGTGGGAGATTGGCAAGATTATTGGTGGCATGTGGCGAGATCTCACTGATGAAGAAAAACAAGAATATTTAAACGAATACGAAGCAGAAAAGATAGAGTACAATGAATCTATGAAGGCCTATCATAATTCCCCCGCGTACCTTGCTTACATAAATGCAAAAAGTCGTGCAGAAGCTGCTTTAGAGGAAGAAAGTCGACAGAGACAATCTCGCATGGAGAAAGGAGAACCGTACATGAGCATTCAGCCTGCTGAAGATCCAGATGATTATGATGATGGCTTTTCAATGAAGCATACAGCCACCGCCCGTTTCCAGAGAAACCACCGCCTCATCAGTGAAATTCTTAGTGAGAGTGTGGTGCCAGACGTTCGGTCAGTTGTCACAACAGCTAGAATGCAGGTCCTCAAACGGCAGGTCCAGTCCTTAATGGTTCATCAGCGAAAACTAGAAGCTGAACTTCTTCAAATAGAGGAACGACACCAGGAGAAGAAGAGGAAATTCCTGGAAAGCACAGATTCATTTAACAATGAACTTAAAAGGTTGTGCGGTCTGAAAGTAGAAGTGGATATGGAGAAAATTGCAGCTGAGATTGCACAGGCAGAGGAACAGGCCCGCAAAAGGCAGGAGGAAAGGGAGAAGGAGGCCGCAGAGCAAGCTGAGCGCAGTCAGAGCAGCATCGTTCCTGAGGAAGAACAAGCAGCTAACAAAGGCGAGGAGAAGAAAGACGACGAGAACATTCCGATGGAGACAGAGGAGACACACCTTGAAGAAACAACAGAGAGCCAACAGAATGGTGAAGAAGGCACGTCTACTCCTGAGGACAAGGAGAGTGGGCAGGAGGGGGTCGACAGTATGGCAGAGGAAGGAACCAGTGATAGTAACACTGGCTCGGAGAGCAACAGTGCAACAGTGGAGGAGCCACCAACAGATCCCATACCAGAAGATGAGAAAAAAGAATAA
Amino sequence
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE*