HsaEX0019987 @ hg38
Exon Skipping
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45779778-45782478:-
Coord C1 exon
chr19:45782193-45782478
Coord A exon
chr19:45780323-45780381
Coord C2 exon
chr19:45779778-45779869
Length
59 bp
Sequences
Splice sites
3' ss Seq
TGTCCTGTTCCTTCCCCCAGCCC
3' ss Score
11.1
5' ss Seq
GAGGTACTG
5' ss Score
7.67
Exon sequences
Seq C1 exon
GGGACAGCCAGGGACAGGCAGACATGCAGCCAGGGCTCCAGGGCCTGGACAGGGGCTGCCAGGCCCTGTGACAGGAGGACCCCGAGCCCCCGGCCCGGGGAGGGGCCATGGTGCTGCCTGTCCAACATGTCAGCCGAGGTGCGGCTGAGGCGGCTCCAGCAGCTGGTGTTGGACCCGGGCTTCCTGGGGCTGGAGCCCCTGCTCGACCTTCTCCTGGGCGTCCACCAGGAGCTGGGCGCCTCCGAACTGGCCCAGGACAAGTACGTGGCCGACTTCTTGCAGTGGG
Seq A exon
CCCCAAATCCAGGGTTTTCCAAAGTGTGGTTCAAGAACCACCTGCATCTGAATCTAGAG
Seq C2 exon
CGGAGCCCATCGTGGTGAGGCTTAAGGAGGTCCGACTGCAGAGGGACGACTTCGAGATTCTGAAGGTGATCGGACGCGGGGCGTTCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-'0-5,'0-4,1-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.161 C2=0.032
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0006920=Pkinase=PU(17.1=41.9)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCTCGACCTTCTCCTGG
R:
CTCTGCAGTCGGACCTCCTTA
Band lengths:
132-191
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development