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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Category | : |
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Search word | : | |
Filtering | : |
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*