ENST00000599848.5 UPF1

Information
Transcript ID
ENST00000599848.5
Genome
hg19
Position
chr19:18,942,810-18,979,038
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 :
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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 18,942,810 18,943,249
2 18,956,789 18,956,928
3 18,958,553 18,958,642
4 18,960,884 18,961,051
5 18,961,497 18,961,677
6 18,962,944 18,963,105
7 18,963,796 18,963,913
8 18,964,061 18,964,159
9 18,965,410 18,965,518
10 18,965,688 18,965,847
11 18,965,933 18,966,051
12 18,966,734 18,966,898
13 18,966,995 18,967,109
14 18,967,686 18,967,829
15 18,968,129 18,968,342
16 18,971,130 18,971,247
17 18,971,635 18,971,791
18 18,972,819 18,972,961
19 18,974,247 18,974,421
20 18,974,979 18,975,060
21 18,976,098 18,976,259
22 18,976,370 18,976,587
23 18,976,853 18,976,975
24 18,977,330 18,979,038
CDS
Exon number Type Start Stop
1 CDS 18,943,019 18,943,249
2 CDS 18,956,789 18,956,928
3 CDS 18,958,553 18,958,642
4 CDS 18,960,884 18,961,051
5 CDS 18,961,497 18,961,677
6 CDS 18,962,944 18,963,105
7 CDS 18,963,796 18,963,913
8 CDS 18,964,061 18,964,159
9 CDS 18,965,410 18,965,518
10 CDS 18,965,688 18,965,847
11 CDS 18,965,933 18,966,051
12 CDS 18,966,734 18,966,898
13 CDS 18,966,995 18,967,109
14 CDS 18,967,686 18,967,829
15 CDS 18,968,129 18,968,342
16 CDS 18,971,130 18,971,247
17 CDS 18,971,635 18,971,791
18 CDS 18,972,819 18,972,961
19 CDS 18,974,247 18,974,421
20 CDS 18,974,979 18,975,060
21 CDS 18,976,098 18,976,259
22 CDS 18,976,370 18,976,587
23 CDS 18,976,853 18,976,972
Other genome
Genome Chromosome Start End Links
hg38 chr19 18,832,001 18,868,229 Link
CDS sequence
ATGAGCGTGGAGGCGTACGGGCCCAGCTCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCTCCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGCAGACGCCCCCCGGCGGCCCCGGCGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAGCTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGGGCTGTGGACGACAGTGTAGCCAAGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAAGGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGATCCTGCCTGCGTGGTTTACTGTAATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATCACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGGACGGGCCCCTGGGGGAGACAGTCCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCTGACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGCCAGAGCAGCCTCAAGGACATCAACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAAGATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCACGGCACAGCAGATCAACAAGCTGGAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACGAGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACCAGTACCAGAACATATTCGGGCCCCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATCACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCCTACTTCACTTTGCCCAAGACTGACTCTGGTAATGAGGATTTAGTCATAATTTGGTTAAGAGACATGCGGCTCATGCAGGGGGATGAGATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAAAGGGATCGGCCACGTCATCAAGGTCCCTGATAATTATGGCGATGAGATCGCCATTGAGCTGCGGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGACCTCCTTTGACAGGATGCAGAGCGCATTGAAAACGTTTGCCGTGGATGAGACCTCGGTGTCTGGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCCAAGCGCTTCACGGCGCAGGGCCTCCCCGACCTCAACCACTCCCAGGTTTATGCCGTGAAGACTGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGCCACCATCGTCTACCACCTGGCCCGGCAAGGCAACGGGCCGGTGCTGGTGTGTGCTCCGAGCAACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCGCCAAGAGCCGTGAGGCCATCGACTCCCCGGTGTCTTTTCTGGCCCTGCACAACCAGATCAGGAACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCGTCTGCCGACGAGAAGCGGTACCGGGCCTTGAAGCGCACCGCAGAGAGAGAGCTGCTGATGAACGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCGCTCCATTTTAATCGACGAAAGCACCCAGGCCACCGAGCCGGAGTGCATGGTTCCCGTGGTCCTCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGAAGGCGGCCAAGGCCGGGCTGTCACAGTCGCTCTTCGAGCGCCTGGTGGTGCTGGGCATCCGGCCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTCTACGAGGGCTCCCTCCAGAATGGTGTCACTGCAGCGGATCGTGTGAAGAAGGGATTTGACTTCCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAGCTCGGGCACCTCCTACCTGAACAGGACCGAGGCTGCGAACGTGGAGAAGATCACCACGAAGTTGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCTACCTGGTGCAGTACATGCAGTTCAGCGGCTCCCTGCACACCAAGCTCTACCAGGAGGTGGAGATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCCAACGAGCACCAAGGCATTGGCTTTTTAAATGACCCCAGGCGTCTGAACGTGGCCCTGACCAGAGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCACCTGCTGAACTACTATAAGGAGCAGAAGGTGCTGGTGGAGGGGCCGCTCAACAACCTGCGTGAGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCATGACCACAGCCATGTATGATGCCCGGGAGGCCATCATCCCAGGCTCCGTCTATGATCGGAGCAGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGCCCTAGCCACGTGGCTGCCATGAACATTCCCATCCCCTTCAACCTGGTCATGCCACCCATGCCACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGACTGGTCGTGGGGGACGCCAGAAGAACCGCTTTGGGCTTCCTGGACCCAGCCAGACTAACCTCCCCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCTACATCTCCATGAGCCAGCCTTCCCAGATGAGCCAGCCCGGCCTCTCCCAGCCGGAGCTGTCCCAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACGTACCAGGGAGAGCGGGCTTACCAGCATGGCGGGGTGACGGGGCTGTCCCAGTATTAA
Amino sequence
MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGIHDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVIIWLRDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLLNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY*