HsaINT0048969 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45778493-45779359:-
Coord C1 exon
chr19:45779264-45779359
Coord A exon
chr19:45778642-45779263
Coord C2 exon
chr19:45778493-45778641
Length
622 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
3' ss Seq
CATGACGAACCCCTTCTCAGTAC
3' ss Score
3.16
Exon sequences
Seq C1 exon
GTGTCGTGCTTCCGTGAGGAGAGGGACGTGTTGGTGAATGGGGACCGGCGGTGGATCACGCAGCTGCACTTCGCCTTCCAGGATGAGAACTACCTG
Seq A exon
GTGAGCTCCGGGCCGGGGTGACTAGGAAGAGGGACAAGAGCCCGTGCTGTCACTGGACGAGGAGGTGGGGAGAGGAAGCTCTAGGATTGGGGGTGCTGCCCGGAAACGTCTGTGGGAAAGTCTGTGTGCGGTAAGAGGGTGTGTCAGGTGGATGAGGGGCCTTCCCTATCTGAGACGGGGATGGTGTCCTTCACTGCCCGTTTCTGGGGTGATCTGGGGGACTCTTATAAAGATGTCTCTGTTGCGGGGGGTCTCTTACCTGGAATGGGATAGGTCTTCAGGAATTCTAACGGGGCCACTGCCTAGGGAAGGAGTGTCTGGGACCTATTCTCTGGGTGTTGGGTGGCCTCTGGGTTCTCTTTCCCAGAACATCTCAGGGGGAGTGAATCTGCCCAGTGACATCCCAGGAAAGTTTTTTTGTTTGTGTTTTTTTTTGAGGGGCGGGGGCGGGGGCCGCAGGTGGTCTCTGATTTGGCCCGGCAGATCTCTATGGTTATCTCTGGGCTGGGGCTGCAGGTCTCTGCCCAAGGATGGGGTGTCTCTGGGAGGGGTTGTCCCAGCCATCCGTGATGGATCAGGGCCTCAGGGGACTACCAACCACCCATGACGAACCCCTTCTCAG
Seq C2 exon
TACCTGGTCATGGAGTATTACGTGGGCGGGGACCTGCTGACACTGCTGAGCAAGTTTGGGGAGCGGATTCCGGCCGAGATGGCGCGCTTCTACCTGGCGGAGATTGTCATGGCCATAGACTCGGTGCACCGGCTTGGCTACGTGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(11.5=100)
A:
NA
C2:
PF0006920=Pkinase=FE(18.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTCGTGCTTCCGTGAG
R:
CTGTGCACGTAGCCAAGCC
Band lengths:
245-867
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