ENST00000696588.1 DKC1

Information
Transcript ID
ENST00000696588.1
Genome
hg38
Position
chrX:154,764,239-154,777,664
Strand
+
CDS length
936
Amino acid length
312
Gene symbol
DKC1
Gene type
protein-coding
Gene description
dyskerin pseudouridine synthase 1
Gene Entrez Gene ID
1736
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
Search Word
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
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Target data :
MGeND data only
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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
1 154,764,239 154,765,530
2 154,765,907 154,765,998
3 154,766,216 154,766,400
4 154,766,997 154,767,061
5 154,767,256 154,767,382
6 154,768,302 154,768,432
7 154,769,167 154,769,310
8 154,770,759 154,770,879
9 154,773,131 154,773,249
10 154,774,602 154,774,705
11 154,775,195 154,775,273
12 154,776,187 154,776,324
13 154,776,799 154,777,664
CDS
Exon number Type Start Stop
5 CDS 154,767,352 154,767,382
6 CDS 154,768,302 154,768,432
7 CDS 154,769,167 154,769,310
8 CDS 154,770,759 154,770,879
9 CDS 154,773,131 154,773,249
10 CDS 154,774,602 154,774,705
11 CDS 154,775,195 154,775,273
12 CDS 154,776,187 154,776,324
13 CDS 154,776,799 154,776,867
Other genome
Genome Chromosome Start End Links
hg19 chrX 153,992,514 154,005,939 Link
CDS sequence
ATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAG
Amino sequence
MIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE*