ENST00000245618.5 EPS8L1

Information
Transcript ID
ENST00000245618.5
Genome
hg38
Position
chr19:55,080,392-55,087,919
Strand
+
CDS length
1,791
Amino acid length
597
Gene symbol
EPS8L1
Gene type
protein-coding
Gene description
EPS8 signaling adaptor L1
Gene Entrez Gene ID
54869
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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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 55,080,392 55,080,541
2 55,080,772 55,080,854
3 55,081,231 55,081,492
4 55,081,773 55,081,899
5 55,082,092 55,082,180
6 55,082,275 55,082,349
7 55,082,454 55,082,602
8 55,083,378 55,083,519
9 55,083,616 55,083,644
10 55,085,841 55,085,973
11 55,086,061 55,086,192
12 55,086,392 55,086,518
13 55,086,714 55,086,888
14 55,087,303 55,087,435
15 55,087,528 55,087,919
CDS
Exon number Type Start Stop
1 CDS 55,080,494 55,080,541
2 CDS 55,080,772 55,080,854
3 CDS 55,081,231 55,081,492
4 CDS 55,081,773 55,081,899
5 CDS 55,082,092 55,082,180
6 CDS 55,082,275 55,082,349
7 CDS 55,082,454 55,082,602
8 CDS 55,083,378 55,083,519
9 CDS 55,083,616 55,083,644
10 CDS 55,085,841 55,085,973
11 CDS 55,086,061 55,086,192
12 CDS 55,086,392 55,086,518
13 CDS 55,086,714 55,086,888
14 CDS 55,087,303 55,087,435
15 CDS 55,087,528 55,087,614
Other genome
Genome Chromosome Start End Links
hg19 chr19 55,591,760 55,599,287 Link
CDS sequence
ATGAACAGAACATGGCCAAGAAGGATCTGGGGGAGCAGCCAGGACGAGGCGGAGCTGATCCGAGAGGACATCCAGGGGGCTCTGCACAATTACCGCTCGGGCCGCGGGGAGCGCAGGGCGGCGGCGCTCAGGGCCACGCAGGAGGAGTTGCAGCGCGACCGCTCGCCCGCCGCTGAGACCCCGCCCCTGCAGCGCCGCCCGTCAGTCCGCGCAGTGATCAGCACCGTAGAGCGGGGCGCGGGCCGCGGACGACCCCAGGCGAAGCCCATTCCCGAGGCAGAGGAGGCGCAGAGGCCTGAGCCGGTGGGGACCTCGAGCAACGCTGACTCGGCCTCCCCGGACCTGGGTCCCCGGGGTCCTGACCTGGCGGTTCTGCAGGCGGAGCGGGAAGTGGACATCCTGAACCACGTGTTCGACGACGTAGAGAGCTTTGTATCGAGGCTGCAGAAGTCGGCGGAGGCGGCCAGGGTGCTGGAGCACCGGGAACGCGGCCGCAGGAGCCGGCGCCGGGCGGCTGGGGAGGGCTTGCTGACGCTGCGGGCCAAGCCGCCCTCGGAGGCCGAGTACACCGACGTGCTGCAGAAGATCAAGTACGCCTTCAGCCTGCTGGCCCGGCTGCGCGGCAACATCGCCGACCCCTCCTCTCCGGAGCTGTTGCACTTCCTTTTCGGGCCTCTGCAGATGATTGTGAACACGTCGGGGGGGCCGGAGTTCGCGAGCAGTGTGCGGCGGCCGCATCTGACATCGGATGCCGTGGCGCTGCTGCGGGACAACGTCACTCCACGTGAAAACGAGCTCTGGACCTCGCTGGGGGACTCGTGGACCCGCCCCGGGCTGGAGCTGTCCCCGGAGGAGGGACCCCCATACAGACCCGAGTTCTTCAGCGGCTGGGAGCCGCCGGTCACTGACCCGCAGAGCCGCGCCTGGGAGGACCCAGTTGAGAAACAGCTACAGCACGAGCGGAGGCGCCGGCAGCAAAGCGCCCCCCAGGTCGCTGTCAATGGTCACCGAGACTTGGAGCCAGAATCTGAGCCTCAGCTGGAGTCAGAGACAGCAGGAAAATGGGTCCTGTGTAATTATGACTTCCAGGCCCGCAACAGCAGTGAGCTGTCGGTCAAGCAGCGGGACGTACTGGAGGTCCTGGATGACAGTCGTAAGTGGTGGAAGGTTCGGGACCCAGCGGGGCAGGAGGGATATGTGCCCTACAACATCCTGACACCCTACCCCGGACCCCGGCTGCACCACAGCCAAAGCCCTGCCCGCAGCCTGAACAGCACTCCTCCTCCACCACCAGCCCCAGCCCCGGCCCCACCTCCAGCTCTGGCTCGGCCCCGCTGGGACAGGCCCCGCTGGGACAGCTGCGATAGCCTCAACGGCTTGGACCCCAGCGAGAAGGAGAAATTCTCCCAGATGCTCATCGTCAACGAGGAACTGCAGGCGCGCCTGGCCCAGGGCCGCTCGGGACCGAGCCGCGCAGTCCCAGGGCCCCGCGCCCCGGAACCGCAGCTCAGCCCGGGCTCGGACGCCTCCGAGGTCCGCGCCTGGCTGCAGGCCAAGGGCTTTAGCTCCGGGACCGTGGACGCGCTGGGTGTGCTGACCGGGGCGCAGCTTTTCTCGCTGCAGAAGGAGGAGCTGCGGGCGGTGAGCCCCGAGGAGGGGGCACGTGTGTACAGCCAGGTCACCGTGCAGCGCTCGCTGCTGGAGGACAAAGAGAAAGTGTCAGAGCTGGAGGCAGTGATGGAGAAGCAAAAGAAGAAGGTGGAAGGCGAGGTGGAAATGGAGGTCATTTGA
Amino sequence
MNRTWPRRIWGSSQDEAELIREDIQGALHNYRSGRGERRAAALRATQEELQRDRSPAAETPPLQRRPSVRAVISTVERGAGRGRPQAKPIPEAEEAQRPEPVGTSSNADSASPDLGPRGPDLAVLQAEREVDILNHVFDDVESFVSRLQKSAEAARVLEHRERGRRSRRRAAGEGLLTLRAKPPSEAEYTDVLQKIKYAFSLLARLRGNIADPSSPELLHFLFGPLQMIVNTSGGPEFASSVRRPHLTSDAVALLRDNVTPRENELWTSLGDSWTRPGLELSPEEGPPYRPEFFSGWEPPVTDPQSRAWEDPVEKQLQHERRRRQQSAPQVAVNGHRDLEPESEPQLESETAGKWVLCNYDFQARNSSELSVKQRDVLEVLDDSRKWWKVRDPAGQEGYVPYNILTPYPGPRLHHSQSPARSLNSTPPPPPAPAPAPPPALARPRWDRPRWDSCDSLNGLDPSEKEKFSQMLIVNEELQARLAQGRSGPSRAVPGPRAPEPQLSPGSDASEVRAWLQAKGFSSGTVDALGVLTGAQLFSLQKEELRAVSPEEGARVYSQVTVQRSLLEDKEKVSELEAVMEKQKKKVEGEVEMEVI*