ENST00000599848.5 UPF1

Information
Transcript ID
ENST00000599848.5
Genome
hg38
Position
chr19:18,832,001-18,868,229
Strand
+
CDS length
3,390
Amino acid length
1,130
Gene symbol
UPF1
Gene type
protein-coding
Gene description
UPF1 RNA helicase and ATPase
Gene Entrez Gene ID
5976
Variants

Display target variant


Search Word
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Search word :
Filtering :
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 18,832,001 18,832,440
2 18,845,980 18,846,119
3 18,847,744 18,847,833
4 18,850,075 18,850,242
5 18,850,688 18,850,868
6 18,852,135 18,852,296
7 18,852,987 18,853,104
8 18,853,252 18,853,350
9 18,854,601 18,854,709
10 18,854,879 18,855,038
11 18,855,124 18,855,242
12 18,855,925 18,856,089
13 18,856,186 18,856,300
14 18,856,877 18,857,020
15 18,857,320 18,857,533
16 18,860,321 18,860,438
17 18,860,826 18,860,982
18 18,862,010 18,862,152
19 18,863,438 18,863,612
20 18,864,170 18,864,251
21 18,865,289 18,865,450
22 18,865,561 18,865,778
23 18,866,044 18,866,166
24 18,866,521 18,868,229
CDS
Exon number Type Start Stop
1 CDS 18,832,210 18,832,440
2 CDS 18,845,980 18,846,119
3 CDS 18,847,744 18,847,833
4 CDS 18,850,075 18,850,242
5 CDS 18,850,688 18,850,868
6 CDS 18,852,135 18,852,296
7 CDS 18,852,987 18,853,104
8 CDS 18,853,252 18,853,350
9 CDS 18,854,601 18,854,709
10 CDS 18,854,879 18,855,038
11 CDS 18,855,124 18,855,242
12 CDS 18,855,925 18,856,089
13 CDS 18,856,186 18,856,300
14 CDS 18,856,877 18,857,020
15 CDS 18,857,320 18,857,533
16 CDS 18,860,321 18,860,438
17 CDS 18,860,826 18,860,982
18 CDS 18,862,010 18,862,152
19 CDS 18,863,438 18,863,612
20 CDS 18,864,170 18,864,251
21 CDS 18,865,289 18,865,450
22 CDS 18,865,561 18,865,778
23 CDS 18,866,044 18,866,163
Other genome
Genome Chromosome Start End Links
hg19 chr19 18,942,810 18,979,038 Link
CDS sequence
ATGAGCGTGGAGGCGTACGGGCCCAGCTCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCTCCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGCAGACGCCCCCCGGCGGCCCCGGCGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAGCTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGGGCTGTGGACGACAGTGTAGCCAAGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAAGGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGATCCTGCCTGCGTGGTTTACTGTAATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATCACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGGACGGGCCCCTGGGGGAGACAGTCCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCTGACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGCCAGAGCAGCCTCAAGGACATCAACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAAGATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCACGGCACAGCAGATCAACAAGCTGGAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACGAGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACCAGTACCAGAACATATTCGGGCCCCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATCACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCCTACTTCACTTTGCCCAAGACTGACTCTGGTAATGAGGATTTAGTCATAATTTGGTTAAGAGACATGCGGCTCATGCAGGGGGATGAGATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAAAGGGATCGGCCACGTCATCAAGGTCCCTGATAATTATGGCGATGAGATCGCCATTGAGCTGCGGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGACCTCCTTTGACAGGATGCAGAGCGCATTGAAAACGTTTGCCGTGGATGAGACCTCGGTGTCTGGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCCAAGCGCTTCACGGCGCAGGGCCTCCCCGACCTCAACCACTCCCAGGTTTATGCCGTGAAGACTGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGCCACCATCGTCTACCACCTGGCCCGGCAAGGCAACGGGCCGGTGCTGGTGTGTGCTCCGAGCAACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCGCCAAGAGCCGTGAGGCCATCGACTCCCCGGTGTCTTTTCTGGCCCTGCACAACCAGATCAGGAACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCGTCTGCCGACGAGAAGCGGTACCGGGCCTTGAAGCGCACCGCAGAGAGAGAGCTGCTGATGAACGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCGCTCCATTTTAATCGACGAAAGCACCCAGGCCACCGAGCCGGAGTGCATGGTTCCCGTGGTCCTCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGAAGGCGGCCAAGGCCGGGCTGTCACAGTCGCTCTTCGAGCGCCTGGTGGTGCTGGGCATCCGGCCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTCTACGAGGGCTCCCTCCAGAATGGTGTCACTGCAGCGGATCGTGTGAAGAAGGGATTTGACTTCCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAGCTCGGGCACCTCCTACCTGAACAGGACCGAGGCTGCGAACGTGGAGAAGATCACCACGAAGTTGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCTACCTGGTGCAGTACATGCAGTTCAGCGGCTCCCTGCACACCAAGCTCTACCAGGAGGTGGAGATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCCAACGAGCACCAAGGCATTGGCTTTTTAAATGACCCCAGGCGTCTGAACGTGGCCCTGACCAGAGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCACCTGCTGAACTACTATAAGGAGCAGAAGGTGCTGGTGGAGGGGCCGCTCAACAACCTGCGTGAGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCATGACCACAGCCATGTATGATGCCCGGGAGGCCATCATCCCAGGCTCCGTCTATGATCGGAGCAGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGCCCTAGCCACGTGGCTGCCATGAACATTCCCATCCCCTTCAACCTGGTCATGCCACCCATGCCACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGACTGGTCGTGGGGGACGCCAGAAGAACCGCTTTGGGCTTCCTGGACCCAGCCAGACTAACCTCCCCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCTACATCTCCATGAGCCAGCCTTCCCAGATGAGCCAGCCCGGCCTCTCCCAGCCGGAGCTGTCCCAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACGTACCAGGGAGAGCGGGCTTACCAGCATGGCGGGGTGACGGGGCTGTCCCAGTATTAA
Amino sequence
MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGIHDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVIIWLRDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLLNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY*