ENST00000680433.1 ERN1

Information
Transcript ID
ENST00000680433.1
Genome
hg19
Position
chr17:62,116,440-62,207,485
Strand
-
CDS length
2,718
Amino acid length
906
Gene symbol
ERN1
Gene type
protein-coding
Gene description
endoplasmic reticulum to nucleus signaling 1
Gene Entrez Gene ID
2081
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
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
20 62,116,440 62,122,842
19 62,125,218 62,125,345
18 62,126,415 62,126,562
17 62,130,140 62,130,339
16 62,130,632 62,130,731
15 62,131,610 62,131,799
14 62,132,098 62,132,188
13 62,133,035 62,133,308
12 62,135,162 62,135,353
11 62,137,829 62,137,947
10 62,141,346 62,141,511
9 62,142,569 62,142,647
8 62,144,031 62,144,292
7 62,145,550 62,145,651
6 62,149,341 62,149,463
5 62,152,535 62,152,607
4 62,157,022 62,157,094
3 62,158,135 62,158,168
2 62,175,481 62,175,601
1 62,207,336 62,207,485
CDS
Exon number Type Start Stop
20 CDS 62,122,654 62,122,842
19 CDS 62,125,218 62,125,345
18 CDS 62,126,415 62,126,562
17 CDS 62,130,140 62,130,339
16 CDS 62,130,632 62,130,731
15 CDS 62,131,610 62,131,799
14 CDS 62,132,098 62,132,188
13 CDS 62,133,035 62,133,308
12 CDS 62,135,162 62,135,353
11 CDS 62,137,829 62,137,947
10 CDS 62,141,346 62,141,511
9 CDS 62,142,569 62,142,647
8 CDS 62,144,031 62,144,292
7 CDS 62,145,550 62,145,651
6 CDS 62,149,341 62,149,463
5 CDS 62,152,535 62,152,607
4 CDS 62,157,022 62,157,094
3 CDS 62,158,135 62,158,168
2 CDS 62,175,481 62,175,601
1 CDS 62,207,336 62,207,389
Other genome
Genome Chromosome Start End Links
hg38 chr17 64,039,080 64,130,125 Link
CDS sequence
ATGCCGGCCCGGCGGCTGCTGCTGCTGCTGACGCTGCTGCTGCCCGGCCTCGGGATTTTTGGAAGTACCAGCACAGTGACGCTTCCTGAAACCTTGTTGTTTGTGTCAACGCTGGATGGAAGTTTGCATGCTGTCAGCAAGAGGACAGGCTCAATCAAATGGACTTTAAAAGAAGATCCAGTCCTGCAGGTCCCAACACATGTGGAAGAGCCTGCCTTTCTCCCAGATCCTAATGATGGCAGCCTGTATACGCTTGGAAGCAAGAATAATGAAGGCCTGACGAAACTTCCTTTTACCATCCCAGAATTGGTGCAGGCATCCCCATGCCGAAGTTCAGATGGAATCCTCTACATGGGTAAAAAGCAGGACATCTGGTATGTTATTGACCTCCTGACCGGAGAGAAGCAGCAGACTTTGTCATCGGCCTTTGCAGATAGTCTCTGCCCATCAACCTCTCTTCTGTATCTTGGGCGAACAGAATACACCATCACCATGTACGACACCAAAACCCGAGAGCTCCGGTGGAATGCCACCTACTTTGACTATGCGGCCTCACTGCCTGAGGACGACGTGGACTACAAGATGTCCCACTTTGTGTCCAATGGTGATGGGCTGGTGGTGACTGTGGACAGTGAATCTGGGGACGTCCTGTGGATCCAAAACTACGCCTCCCCTGTGGTGGCCTTTTATGTCTGGCAGCGGGAGGGTCTGAGGAAGGTGATGCACATCAATGTCGCTGTGGAGACCCTGCGCTATCTGACCTTCATGTCTGGGGAGGTGGGGCGCATCACAAAGTGGAAGTACCCGTTCCCCAAGGAGACAGAGGCCAAGAGCAAGCTGACGCCCACTCTGTATGTTGGGAAATACTCTACCAGCCTCTATGCCTCTCCCTCAATGGTACACGAGGGGGTTGCTGTCGTGCCCCGCGGCAGCACACTTCCTTTGCTGGAAGGGCCCCAGACTGATGGCGTCACCATTGGGGACAAGGGGGAGTGTGTGATCACGCCCAGCACGGACGTCAAGTTTGATCCCGGACTCAAAAGCAAGAACAAGCTCAACTACTTGAGGAATTACTGGCTTCTGATAGGACACCATGAAACCCCACTGTCTGCGTCTACCAAGATGCTGGAGAGATTTCCCAACAATCTACCCAAACATCGGGAAAATGTGATTCCTGCTGATTCAGAGAAAAAGAGCTTTGAGGAAGTTATCAACCTGGTTGACCAGACTTCAGAAAACGCACCTACCACCGTGTCTCGGGATGTGGAGGAGAAGCCCGCCCATGCCCCTGCCCGGCCCGAGGCCCCCGTGGACTCCATGCTTAAGGACATGGCTACCATCATCCTGAGCACCTTCCTGCTGATTGGCTGGGTGGCCTTCATCATCACCTATCCCCTGAGCATGCATCAGCAGCAGCAGCTCCAGCACCAGCAGTTCCAGAAGGAACTGGAGAAGATCCAGCTCCTGCAGCAGCAGCAGCAGCAGCTGCCCTTCCACCCACCTGGAGACACGGCTCAGGACGGCGAGCTCCTGGACACGTCTGGCCCGTACTCAGAGAGCTCGGGCACCAGCAGCCCCAGCACGTCCCCCAGGGCCTCCAACCACTCGCTCTGCTCCGGCAGCTCTGCCTCCAAGGCTGGCAGCAGCCCCTCCCTGGAACAAGACGATGGAGATGAGGAAACCAGCGTGGTGATAGTTGGGAAAATTTCCTTCTGTCCCAAGGATGTCCTGGGCCATGGAGCTGAGGGCACAATTGTGTACCGGGGCATGTTTGACAACCGCGACGTGGCCGTGAAGAGGATCCTCCCCGAGTGTTTTAGCTTCGCAGACCGTGAGGTCCAGCTGTTGCGAGAATCGGATGAGCACCCGAACGTGATCCGCTACTTCTGCACGGAGAAGGACCGGCAATTCCAGTACATTGCCATCGAGCTGTGTGCAGCCACCCTGCAAGAGTATGTGGAGCAGAAGGACTTTGCGCATCTCGGCCTGGAGCCCATCACCTTGCTGCAGCAGACCACCTCGGGCCTGGCCCACCTCCACTCCCTCAACATCGTTCACAGAGACCTAAAGCCACACAACATCCTCATATCCATGCCCAATGCACACGGCAAGATCAAGGCCATGATCTCCGACTTTGGCCTCTGCAAGAAGCTGGCAGTGGGCAGACACAGTTTCAGCCGCCGATCTGGGGTGCCTGGCACAGAAGGCTGGATCGCTCCAGAGATGCTGAGCGAAGACTGTAAGGAGAACCCTACCTACACGGTGGACATCTTTTCTGCAGGCTGCGTCTTTTACTACGTAATCTCTGAGGGCAGCCACCCTTTTGGCAAGTCCCTGCAGCGGCAGGCCAACATCCTCCTGGGTGCCTGCAGCCTTGACTGCTTGCACCCAGAGAAGCACGAAGACGTCATTGCACGTGAATTGATAGAGAAGATGATTGCGATGGATCCTCAGAAACGCCCCTCAGCGAAGCATGTGCTCAAACACCCGTTCTTCTGGAGCCTAGAGAAGCAGCTCCAGTTCTTCCAGGACGTGAGCGACAGAATAGAAAAGGAATCCCTGGATGGCCCGATCGTGAAGCAGTTAGAGAGAGGCGGGAGAGCCGTGGTGAAGATGGACTGGCGGGAGAACATCACTGTCCCCCTCCAGACAGGTGATCATGCTGCAGCGTGTGAGAGGGCAGGTTGCAAAAGTCGCTGCCGCCTTTCCAAAAAGTAA
Amino sequence
MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDPVLQVPTHVEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGKKQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLGRTEYTITMYDTKTRELRWNATYFDYAASLPEDDVDYKMSHFVSNGDGLVVTVDSESGDVLWIQNYASPVVAFYVWQREGLRKVMHINVAVETLRYLTFMSGEVGRITKWKYPFPKETEAKSKLTPTLYVGKYSTSLYASPSMVHEGVAVVPRGSTLPLLEGPQTDGVTIGDKGECVITPSTDVKFDPGLKSKNKLNYLRNYWLLIGHHETPLSASTKMLERFPNNLPKHRENVIPADSEKKSFEEVINLVDQTSENAPTTVSRDVEEKPAHAPARPEAPVDSMLKDMATIILSTFLLIGWVAFIITYPLSMHQQQQLQHQQFQKELEKIQLLQQQQQQLPFHPPGDTAQDGELLDTSGPYSESSGTSSPSTSPRASNHSLCSGSSASKAGSSPSLEQDDGDEETSVVIVGKISFCPKDVLGHGAEGTIVYRGMFDNRDVAVKRILPECFSFADREVQLLRESDEHPNVIRYFCTEKDRQFQYIAIELCAATLQEYVEQKDFAHLGLEPITLLQQTTSGLAHLHSLNIVHRDLKPHNILISMPNAHGKIKAMISDFGLCKKLAVGRHSFSRRSGVPGTEGWIAPEMLSEDCKENPTYTVDIFSAGCVFYYVISEGSHPFGKSLQRQANILLGACSLDCLHPEKHEDVIARELIEKMIAMDPQKRPSAKHVLKHPFFWSLEKQLQFFQDVSDRIEKESLDGPIVKQLERGGRAVVKMDWRENITVPLQTGDHAAACERAGCKSRCRLSKK*