ENST00000245618.5 EPS8L1

Information
Transcript ID
ENST00000245618.5
Genome
hg19
Position
chr19:55,591,760-55,599,287
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

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 55,591,760 55,591,909
2 55,592,140 55,592,222
3 55,592,599 55,592,860
4 55,593,141 55,593,267
5 55,593,460 55,593,548
6 55,593,643 55,593,717
7 55,593,822 55,593,970
8 55,594,746 55,594,887
9 55,594,984 55,595,012
10 55,597,209 55,597,341
11 55,597,429 55,597,560
12 55,597,760 55,597,886
13 55,598,082 55,598,256
14 55,598,671 55,598,803
15 55,598,896 55,599,287
CDS
Exon number Type Start Stop
1 CDS 55,591,862 55,591,909
2 CDS 55,592,140 55,592,222
3 CDS 55,592,599 55,592,860
4 CDS 55,593,141 55,593,267
5 CDS 55,593,460 55,593,548
6 CDS 55,593,643 55,593,717
7 CDS 55,593,822 55,593,970
8 CDS 55,594,746 55,594,887
9 CDS 55,594,984 55,595,012
10 CDS 55,597,209 55,597,341
11 CDS 55,597,429 55,597,560
12 CDS 55,597,760 55,597,886
13 CDS 55,598,082 55,598,256
14 CDS 55,598,671 55,598,803
15 CDS 55,598,896 55,598,982
Other genome
Genome Chromosome Start End Links
hg38 chr19 55,080,392 55,087,919 Link
CDS sequence
ATGAACAGAACATGGCCAAGAAGGATCTGGGGGAGCAGCCAGGACGAGGCGGAGCTGATCCGAGAGGACATCCAGGGGGCTCTGCACAATTACCGCTCGGGCCGCGGGGAGCGCAGGGCGGCGGCGCTCAGGGCCACGCAGGAGGAGTTGCAGCGCGACCGCTCGCCCGCCGCTGAGACCCCGCCCCTGCAGCGCCGCCCGTCAGTCCGCGCAGTGATCAGCACCGTAGAGCGGGGCGCGGGCCGCGGACGACCCCAGGCGAAGCCCATTCCCGAGGCAGAGGAGGCGCAGAGGCCTGAGCCGGTGGGGACCTCGAGCAACGCTGACTCGGCCTCCCCGGACCTGGGTCCCCGGGGTCCTGACCTGGCGGTTCTGCAGGCGGAGCGGGAAGTGGACATCCTGAACCACGTGTTCGACGACGTAGAGAGCTTTGTATCGAGGCTGCAGAAGTCGGCGGAGGCGGCCAGGGTGCTGGAGCACCGGGAACGCGGCCGCAGGAGCCGGCGCCGGGCGGCTGGGGAGGGCTTGCTGACGCTGCGGGCCAAGCCGCCCTCGGAGGCCGAGTACACCGACGTGCTGCAGAAGATCAAGTACGCCTTCAGCCTGCTGGCCCGGCTGCGCGGCAACATCGCCGACCCCTCCTCTCCGGAGCTGTTGCACTTCCTTTTCGGGCCTCTGCAGATGATTGTGAACACGTCGGGGGGGCCGGAGTTCGCGAGCAGTGTGCGGCGGCCGCATCTGACATCGGATGCCGTGGCGCTGCTGCGGGACAACGTCACTCCACGTGAAAACGAGCTCTGGACCTCGCTGGGGGACTCGTGGACCCGCCCCGGGCTGGAGCTGTCCCCGGAGGAGGGACCCCCATACAGACCCGAGTTCTTCAGCGGCTGGGAGCCGCCGGTCACTGACCCGCAGAGCCGCGCCTGGGAGGACCCAGTTGAGAAACAGCTACAGCACGAGCGGAGGCGCCGGCAGCAAAGCGCCCCCCAGGTCGCTGTCAATGGTCACCGAGACTTGGAGCCAGAATCTGAGCCTCAGCTGGAGTCAGAGACAGCAGGAAAATGGGTCCTGTGTAATTATGACTTCCAGGCCCGCAACAGCAGTGAGCTGTCGGTCAAGCAGCGGGACGTACTGGAGGTCCTGGATGACAGTCGTAAGTGGTGGAAGGTTCGGGACCCAGCGGGGCAGGAGGGATATGTGCCCTACAACATCCTGACACCCTACCCCGGACCCCGGCTGCACCACAGCCAAAGCCCTGCCCGCAGCCTGAACAGCACTCCTCCTCCACCACCAGCCCCAGCCCCGGCCCCACCTCCAGCTCTGGCTCGGCCCCGCTGGGACAGGCCCCGCTGGGACAGCTGCGATAGCCTCAACGGCTTGGACCCCAGCGAGAAGGAGAAATTCTCCCAGATGCTCATCGTCAACGAGGAACTGCAGGCGCGCCTGGCCCAGGGCCGCTCGGGACCGAGCCGCGCAGTCCCAGGGCCCCGCGCCCCGGAACCGCAGCTCAGCCCGGGCTCGGACGCCTCCGAGGTCCGCGCCTGGCTGCAGGCCAAGGGCTTTAGCTCCGGGACCGTGGACGCGCTGGGTGTGCTGACCGGGGCGCAGCTTTTCTCGCTGCAGAAGGAGGAGCTGCGGGCGGTGAGCCCCGAGGAGGGGGCACGTGTGTACAGCCAGGTCACCGTGCAGCGCTCGCTGCTGGAGGACAAAGAGAAAGTGTCAGAGCTGGAGGCAGTGATGGAGAAGCAAAAGAAGAAGGTGGAAGGCGAGGTGGAAATGGAGGTCATTTGA
Amino sequence
MNRTWPRRIWGSSQDEAELIREDIQGALHNYRSGRGERRAAALRATQEELQRDRSPAAETPPLQRRPSVRAVISTVERGAGRGRPQAKPIPEAEEAQRPEPVGTSSNADSASPDLGPRGPDLAVLQAEREVDILNHVFDDVESFVSRLQKSAEAARVLEHRERGRRSRRRAAGEGLLTLRAKPPSEAEYTDVLQKIKYAFSLLARLRGNIADPSSPELLHFLFGPLQMIVNTSGGPEFASSVRRPHLTSDAVALLRDNVTPRENELWTSLGDSWTRPGLELSPEEGPPYRPEFFSGWEPPVTDPQSRAWEDPVEKQLQHERRRRQQSAPQVAVNGHRDLEPESEPQLESETAGKWVLCNYDFQARNSSELSVKQRDVLEVLDDSRKWWKVRDPAGQEGYVPYNILTPYPGPRLHHSQSPARSLNSTPPPPPAPAPAPPPALARPRWDRPRWDSCDSLNGLDPSEKEKFSQMLIVNEELQARLAQGRSGPSRAVPGPRAPEPQLSPGSDASEVRAWLQAKGFSSGTVDALGVLTGAQLFSLQKEELRAVSPEEGARVYSQVTVQRSLLEDKEKVSELEAVMEKQKKKVEGEVEMEVI*