ENST00000540810.5 EPS8L1

Information
Transcript ID
ENST00000540810.5
Genome
hg38
Position
chr19:55,075,903-55,087,848
Strand
+
CDS length
1,980
Amino acid length
660
Gene symbol
EPS8L1
Gene type
protein-coding
Gene description
EPS8 signaling adaptor L1
Gene Entrez Gene ID
54869
Variants

Display target variant


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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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Target data :
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
Search Word
Target data :
MGeND data only
Category :
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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
1 55,075,903 55,075,919
2 55,076,408 55,076,461
3 55,079,690 55,079,851
4 55,080,129 55,080,278
5 55,080,772 55,080,854
6 55,081,231 55,081,492
7 55,081,773 55,081,899
8 55,082,092 55,082,180
9 55,082,275 55,082,349
10 55,082,454 55,082,602
11 55,083,378 55,083,519
12 55,083,616 55,083,644
13 55,085,841 55,085,973
14 55,086,061 55,086,192
15 55,086,392 55,086,518
16 55,086,714 55,086,888
17 55,087,303 55,087,435
18 55,087,528 55,087,848
CDS
Exon number Type Start Stop
3 CDS 55,079,765 55,079,851
4 CDS 55,080,129 55,080,278
5 CDS 55,080,772 55,080,854
6 CDS 55,081,231 55,081,492
7 CDS 55,081,773 55,081,899
8 CDS 55,082,092 55,082,180
9 CDS 55,082,275 55,082,349
10 CDS 55,082,454 55,082,602
11 CDS 55,083,378 55,083,519
12 CDS 55,083,616 55,083,644
13 CDS 55,085,841 55,085,973
14 CDS 55,086,061 55,086,192
15 CDS 55,086,392 55,086,518
16 CDS 55,086,714 55,086,888
17 CDS 55,087,303 55,087,435
18 CDS 55,087,528 55,087,614
Other genome
Genome Chromosome Start End Links
hg19 chr19 55,587,271 55,599,216 Link
CDS sequence
ATGGATAGCCAGGGCCGAGTCTGGGCACAGGAGATGCTGCTGCGAGTGTCTCCCGACCATGTCACGCTGCTCGACCCGGCCTCCAAGGAGGAGCTGGAGTCGTACCCACTGGGCGCCATCGTGCGCTGTGACGCGGTGATGCCACCCGGCAGGAGCCGCTCGTTGCTGCTGCTCGTGTGCCAGGAACCCGAGCGCGCGCAGCCCGACGTGCACTTCTTCCAGGGCCTGCGCCTCGGGGCGGAGCTGATCCGAGAGGACATCCAGGGGGCTCTGCACAATTACCGCTCGGGCCGCGGGGAGCGCAGGGCGGCGGCGCTCAGGGCCACGCAGGAGGAGTTGCAGCGCGACCGCTCGCCCGCCGCTGAGACCCCGCCCCTGCAGCGCCGCCCGTCAGTCCGCGCAGTGATCAGCACCGTAGAGCGGGGCGCGGGCCGCGGACGACCCCAGGCGAAGCCCATTCCCGAGGCAGAGGAGGCGCAGAGGCCTGAGCCGGTGGGGACCTCGAGCAACGCTGACTCGGCCTCCCCGGACCTGGGTCCCCGGGGTCCTGACCTGGCGGTTCTGCAGGCGGAGCGGGAAGTGGACATCCTGAACCACGTGTTCGACGACGTAGAGAGCTTTGTATCGAGGCTGCAGAAGTCGGCGGAGGCGGCCAGGGTGCTGGAGCACCGGGAACGCGGCCGCAGGAGCCGGCGCCGGGCGGCTGGGGAGGGCTTGCTGACGCTGCGGGCCAAGCCGCCCTCGGAGGCCGAGTACACCGACGTGCTGCAGAAGATCAAGTACGCCTTCAGCCTGCTGGCCCGGCTGCGCGGCAACATCGCCGACCCCTCCTCTCCGGAGCTGTTGCACTTCCTTTTCGGGCCTCTGCAGATGATTGTGAACACGTCGGGGGGGCCGGAGTTCGCGAGCAGTGTGCGGCGGCCGCATCTGACATCGGATGCCGTGGCGCTGCTGCGGGACAACGTCACTCCACGTGAAAACGAGCTCTGGACCTCGCTGGGGGACTCGTGGACCCGCCCCGGGCTGGAGCTGTCCCCGGAGGAGGGACCCCCATACAGACCCGAGTTCTTCAGCGGCTGGGAGCCGCCGGTCACTGACCCGCAGAGCCGCGCCTGGGAGGACCCAGTTGAGAAACAGCTACAGCACGAGCGGAGGCGCCGGCAGCAAAGCGCCCCCCAGGTCGCTGTCAATGGTCACCGAGACTTGGAGCCAGAATCTGAGCCTCAGCTGGAGTCAGAGACAGCAGGAAAATGGGTCCTGTGTAATTATGACTTCCAGGCCCGCAACAGCAGTGAGCTGTCGGTCAAGCAGCGGGACGTACTGGAGGTCCTGGATGACAGTCGTAAGTGGTGGAAGGTTCGGGACCCAGCGGGGCAGGAGGGATATGTGCCCTACAACATCCTGACACCCTACCCCGGACCCCGGCTGCACCACAGCCAAAGCCCTGCCCGCAGCCTGAACAGCACTCCTCCTCCACCACCAGCCCCAGCCCCGGCCCCACCTCCAGCTCTGGCTCGGCCCCGCTGGGACAGGCCCCGCTGGGACAGCTGCGATAGCCTCAACGGCTTGGACCCCAGCGAGAAGGAGAAATTCTCCCAGATGCTCATCGTCAACGAGGAACTGCAGGCGCGCCTGGCCCAGGGCCGCTCGGGACCGAGCCGCGCAGTCCCAGGGCCCCGCGCCCCGGAACCGCAGCTCAGCCCGGGCTCGGACGCCTCCGAGGTCCGCGCCTGGCTGCAGGCCAAGGGCTTTAGCTCCGGGACCGTGGACGCGCTGGGTGTGCTGACCGGGGCGCAGCTTTTCTCGCTGCAGAAGGAGGAGCTGCGGGCGGTGAGCCCCGAGGAGGGGGCACGTGTGTACAGCCAGGTCACCGTGCAGCGCTCGCTGCTGGAGGACAAAGAGAAAGTGTCAGAGCTGGAGGCAGTGATGGAGAAGCAAAAGAAGAAGGTGGAAGGCGAGGTGGAAATGGAGGTCATTTGA
Amino sequence
MDSQGRVWAQEMLLRVSPDHVTLLDPASKEELESYPLGAIVRCDAVMPPGRSRSLLLLVCQEPERAQPDVHFFQGLRLGAELIREDIQGALHNYRSGRGERRAAALRATQEELQRDRSPAAETPPLQRRPSVRAVISTVERGAGRGRPQAKPIPEAEEAQRPEPVGTSSNADSASPDLGPRGPDLAVLQAEREVDILNHVFDDVESFVSRLQKSAEAARVLEHRERGRRSRRRAAGEGLLTLRAKPPSEAEYTDVLQKIKYAFSLLARLRGNIADPSSPELLHFLFGPLQMIVNTSGGPEFASSVRRPHLTSDAVALLRDNVTPRENELWTSLGDSWTRPGLELSPEEGPPYRPEFFSGWEPPVTDPQSRAWEDPVEKQLQHERRRRQQSAPQVAVNGHRDLEPESEPQLESETAGKWVLCNYDFQARNSSELSVKQRDVLEVLDDSRKWWKVRDPAGQEGYVPYNILTPYPGPRLHHSQSPARSLNSTPPPPPAPAPAPPPALARPRWDRPRWDSCDSLNGLDPSEKEKFSQMLIVNEELQARLAQGRSGPSRAVPGPRAPEPQLSPGSDASEVRAWLQAKGFSSGTVDALGVLTGAQLFSLQKEELRAVSPEEGARVYSQVTVQRSLLEDKEKVSELEAVMEKQKKKVEGEVEMEVI*