ENST00000647087.1 EPS8

Information
Transcript ID
ENST00000647087.1
Genome
hg38
Position
chr12:15,620,412-15,882,324
Strand
-
CDS length
2,469
Amino acid length
823
Gene symbol
EPS8
Gene type
protein-coding
Gene description
EGFR pathway substrate 8, signaling adaptor
Gene Entrez Gene ID
2059
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
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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
23 15,620,412 15,621,430
22 15,623,158 15,623,287
21 15,624,227 15,624,407
20 15,631,442 15,631,664
19 15,640,703 15,640,846
18 15,641,722 15,641,830
17 15,647,127 15,647,260
16 15,650,823 15,651,006
15 15,654,145 15,654,293
14 15,658,079 15,658,153
13 15,658,497 15,658,585
12 15,660,614 15,660,740
11 15,662,026 15,662,099
10 15,665,756 15,665,892
9 15,666,440 15,666,522
8 15,669,387 15,669,536
7 15,669,664 15,669,825
6 15,670,856 15,670,923
5 15,681,226 15,681,302
4 15,682,893 15,682,972
3 15,837,573 15,837,724
2 15,881,107 15,881,199
1 15,882,263 15,882,324
CDS
Exon number Type Start Stop
23 CDS 15,621,317 15,621,430
22 CDS 15,623,158 15,623,287
21 CDS 15,624,227 15,624,407
20 CDS 15,631,442 15,631,664
19 CDS 15,640,703 15,640,846
18 CDS 15,641,722 15,641,830
17 CDS 15,647,127 15,647,260
16 CDS 15,650,823 15,651,006
15 CDS 15,654,145 15,654,293
14 CDS 15,658,079 15,658,153
13 CDS 15,658,497 15,658,585
12 CDS 15,660,614 15,660,740
11 CDS 15,662,026 15,662,099
10 CDS 15,665,756 15,665,892
9 CDS 15,666,440 15,666,522
8 CDS 15,669,387 15,669,536
7 CDS 15,669,664 15,669,825
6 CDS 15,670,856 15,670,923
5 CDS 15,681,226 15,681,302
4 CDS 15,682,893 15,682,951
Other genome
Genome Chromosome Start End Links
hg19 chr12 15,773,346 16,035,258 Link
CDS sequence
ATGAATGGTCATATTTCTAATCATCCCAGTAGTTTTGGAATGTACCCATCTCAGATGAATGGCTACGGATCATCACCTACCTTTTCCCAGACGGACAGAGAACATGGTTCAAAAACAAGTGCAAAGGCCCTTTATGAACAAAGGAAGAATTATGCACGGGACAGTGTCAGCAGTGTGTCAGATATATCTCAATACCGTGTTGAACACTTGACTACCTTTGTCCTGGATCGGAAAGATGCTATGATCACTGTTGATGATGGAATAAGGAAATTGAAATTGCTTGATGCCAAGGGCAAAGTGTGGACTCAAGATATGATTCTTCAAGTGGATGACAGAGCTGTGAGCCTGATTGATTTAGAATCAAAGAATGAACTGGAGAATTTTCCTTTAAACACAATCCAGCACTGCCAAGCTGTGATGCATTCATGCAGCTATGATTCAGTTCTTGCACTGGTGTGCAAAGAGCCAACCCAGAACAAGCCAGATCTTCATCTCTTCCAGTGTGATGAGGTTAAGGCAAACCTAATTAGTGAAGATATTGAAAGTGCAATCAGTGACAGTAAAGGAGGGAAACAGAAGAGGCGGCCCGACGCCCTGAGGATGATTTCCAATGCAGACCCTAGTATACCGCCTCCACCCAGAGCTCCTGCCCCTGCGCCCCCTGGGACCGTCACCCAGGTGGATGTTAGAAGTCGAGTGGCAGCCTGGTCTGCATGGGCAGCCGACCAAGGGGACTTTGAGAAACCAAGGCAGTATCATGAGCAGGAAGAAACACCTGAGATGATGGCAGCCCGCATTGACAGAGATGTGCAAATCTTAAACCACATTTTGGATGACATTGAATTTTTTATCACAAAACTCCAAAAAGCAGCAGAAGCATTTTCTGAGCTTTCTAAAAGGAAGAAAAACAAGAAAGGTAAAAGGAAAGGACCAGGAGAGGGTGTTTTAACGCTGCGGGCAAAACCTCCACCTCCTGATGAATTTCTTGACTGTTTCCAAAAGTTTAAACACGGATTTAACCTTCTGGCCAAACTGAAGTCTCATATTCAGAATCCTAGTGCTGCAGATTTGGTTCACTTTTTGTTTACTCCATTAAATATGGTGGTGCAGGCAACAGGAGGTCCTGAACTAGCCAGTTCAGTACTTAGTCCCCTATTGAATAAGGACACAATTGATTTCTTAAATTATACTGTCAATGGTGATGAACGGCAGCTGTGGATGTCATTGGGAGGAACTTGGATGAAAGCCAGAGCAGAGTGGCCAAAAGAACAGTTTATTCCACCATATGTTCCACGATTCCGCAATGGCTGGGAGCCCCCAATGCTGAACTTTATGGGAGCCACAATGGAACAAGATCTTTATCAACTGGCAGAATCTGTGGCAAATGTAGCAGAACATCAGCGCAAACAGGAAATAAAAAGATTATCCACAGAGCATTCCAGTGTATCAGAGTATCATCCAGCCGATGGCTATGCGTTCAGTAGCAACATTTACACAAGAGGATCCCACCTGGACCAAGGGGAAGCTGCTGTTGCTTTTAAGCCAACTTCTAATCGCCATATAGATAGAAATTATGAACCACTCAAAACACAACCCAAGAAATATGCCAAATCCAAGTATGACTTTGTAGCAAGGAACAACAGTGAGCTCTCGGTTCTAAAGGATGATATTTTAGAGATACTTGATGATCGGAAGCAATGGTGGAAAGTTCGAAATGCAAGTGGAGACTCTGGATTTGTGCCAAATAACATTTTGGATATTGTGAGACCTCCAGAATCTGGATTGGGGCGTGCTGATCCACCTTATACTCATACTATACAGAAACAAAGGATGGAGTATGGCCCAAGACCAGCTGATACTCCCCCTGCTCCATCACCTCCTCCAACACCAGCTCCTGTTCCTGTTCCCCTTCCCCCTTCCACTCCAGCACCTGTTCCTGTGTCAAAGGTCCCAGCAAATATAACACGTCAAAACAGCAGCTCCAGTGACAGTGGTGGCAGTATCGTGCGAGACAGCCAGAGACACAAACAACTTCCGGTGGACCGAAGGAAATCTCAGATGGAGGAAGTGCAAGATGAACTCATCCACAGACTGACCATTGGTCGGAGTGCCGCTCAGAAGAAATTCCATGTGCCACGGCAGAACGTGCCAGTTATCAATATCACTTACGACTCCACACCAGAGGATGTGAAGACGTGGTTACAGTCAAAGGGATTCAACCCTGTGACTGTCAATAGTCTTGGAGTATTAAATGGTGCACAACTTTTCTCTCTCAATAAGGATGAACTGAGGACAGTCTGCCCTGAAGGGGCGAGAGTCTATAGCCAAATCACTGTACAAAAAGCTGCATTGGAGGATAGCAGTGGCAGCTCCGAGTTACAAGAAATTATGAGAAGACGACAGGAAAAAATCAGTGCTGCCGCTAGTGATTCAGGAGTGGAATCTTTTGATGAAGGAAGCAGTCACTAA
Amino sequence
MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVSDISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWAADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKRKKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHSSVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKYDFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADPPYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSSSSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH*