ENST00000696587.1 DKC1

Information
Transcript ID
ENST00000696587.1
Genome
hg38
Position
chrX:154,762,951-154,777,663
Strand
+
CDS length
1,425
Amino acid length
475
Gene symbol
DKC1
Gene type
protein-coding
Gene description
dyskerin pseudouridine synthase 1
Gene Entrez Gene ID
1736
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 :
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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
1 154,762,951 154,762,981
2 154,764,899 154,764,966
3 154,765,444 154,765,530
4 154,765,907 154,765,998
5 154,766,216 154,766,400
6 154,767,311 154,767,382
7 154,768,302 154,768,432
8 154,769,167 154,769,310
9 154,770,759 154,770,879
10 154,773,131 154,773,249
11 154,774,602 154,774,705
12 154,775,195 154,775,273
13 154,776,187 154,776,324
14 154,776,799 154,777,663
CDS
Exon number Type Start Stop
1 CDS 154,762,966 154,762,981
2 CDS 154,764,899 154,764,966
3 CDS 154,765,444 154,765,530
4 CDS 154,765,907 154,765,998
5 CDS 154,766,216 154,766,400
6 CDS 154,767,311 154,767,382
7 CDS 154,768,302 154,768,432
8 CDS 154,769,167 154,769,310
9 CDS 154,770,759 154,770,879
10 CDS 154,773,131 154,773,249
11 CDS 154,774,602 154,774,705
12 CDS 154,775,195 154,775,273
13 CDS 154,776,187 154,776,324
14 CDS 154,776,799 154,776,867
Other genome
Genome Chromosome Start End Links
hg19 chrX 153,991,226 154,005,938 Link
CDS sequence
ATGGCGGATGCGGAAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAG
Amino sequence
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE*