HsaINT0048973 @ hg19
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46275899-46278292:-
Coord C1 exon
chr19:46278207-46278292
Coord A exon
chr19:46276011-46278206
Coord C2 exon
chr19:46275899-46276010
Length
2196 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
3' ss Seq
CTCCCTCCTCCTCTCCCCAGGGA
3' ss Score
12.87
Exon sequences
Seq C1 exon
GAGACACTGTCGGACATTCGGGAAGGTGCGCCGCTAGGGGTCCACCTGCCTTTTGTGGGCTACTCCTACTCCTGCATGGCCCTCAG
Seq A exon
GTAAGCACTGCCCTGGACGGCCTCCAGGGGCCACGAGGCTGCTTGAGCTTCCTGGGTCCTGCTCCTTGGCAGCCAATGGAGTTGCAGGATCAGTCTTGGAACCTTACTGTTTTGGGCCCAAAGACTCCTAAGAGGCCAGAGTTGGAGGACCTTAAATTTTCAGATCTATGTACTTCAAAATGTTAGATTGAATTTTAAAACCTCAGAGTCACAGACTGGGCTTCCCAGAATCTTGTAACCATTAACTTTTACGTCTGTAGTACACAGAGCCACAGGACTTCAGAACTTGGAAAATATGAAGTTTAGACTTTTACAATCAGTTGTAAAAGAATGCAAATTCTTTGAATCAGCCATATAACAATAAGGCCATTTAAAAGTATTAATTTAGGCGGGCCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCGGGCGCTTGCGGTCCCAGCTACTTGGGAGGCGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTATTTATTTAGGCCGGGTGTGGTGGCTCACGCCTGTAATTCCAGTGCTTTGGGAGGATGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCTCATCTCTACTAAAAAACAAAATTAGCCAGGCGTGGTGGCATATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCAGAACCCAGGAGGGGGAGGTTGTGGTGAGCTGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTTCATCTCAAAAAAAAAAAAAAAAAAGTACTAATTTACAGGCTGGGCATGGTGGCTCACGCTTGGAATCCCAGCACTTTGGGAGGCTGAAGTGGACGGATTGCTTCAGCCCAGGAGTTCAAGACCAGCCTGAGCAACATAATGAGACCCTGTCTCTACAAAAAATTGAAAAAATCGTGCCAGGCATGGTGGTCTGTGCCTGCAGTCCTAGCTACTCAGGAGTCTGAAGTAGGAGAATCACTTGAGCCTGGAGTTTGAGGCTTCAGTGAGCCATGATAGATTCCAGCCTAGGCAACAAAGTGAGACCTGGTCTCAACAAAAGTATTAATTACACAAATAATGCATTGCTTATCACAAGTAAATTAGAAAATACAGATAAGGAAAAGGAAGTTGATATCTCGTGAGCTCACCAGATGGCAGTGGTCCCTGGCTCACACGTGTACTGACACATGTTTAAATAGTGGAGAACAGGTGTTTTTTTGGTTTGTTTTTTTCCCCTTCCTCATGCTACTTTGTCTAAGAGAACAGTTGGTTTTCTAGTCAGCTTTTATTACTGGACAACATTACACATACTATACCTTATCATTAATGAACTCCAGCTTGATTCTGAACCGCTGCGGGGCCTGAACGGTGGGTCAGGATTGAACCCATCCTCTATTAGAACCCAGGCGCATGTCCAGGATAGCTAGGTCCTGAGCCGTGTTCCCACAGGAGGGACTGCTGGGTTGGAGGGGACAGCCACTTCATACCCCAGGGAGGAGCTGTCCCCTTCCCACAGCTGAGTGGGGTGTGCTGACCTCAAGTTGCCATCTTGGGGTCCCATGCCCAGTCTTAGGACCACATCTGTGGAGGTGGCCAGAGCCAAGCAGTCTCCCCATCAGGTCGGCCTCCCTGTCCTGAGGCCCTGAGAAGAGGGGTCTGCAGCGGTCACATGTCAAGGGAGGAGATGAGCTGACCCTAGAACATGGGGGTCTGGACCCCAAGTCCCTGCAGAAGGTTTAGAAAGAGCAGCTCCCAGGGGCCCAAGGCCAGGAGAGGGGCAGGGCTTTTCCTAAGCAGAGGAGGGGCTATTGGCCTACCTGGGACTCTGTTCTCTTCGCTCTGCTGCTCCCCTTCCTCAAATCAGGAGGTCTTGGAAGCAGCTGCCCCTACCCACAGGCCAGAAGTTCTGGTTCTCCACCAGAGAATCAGCATTCTGTCTCCCTCCCCACTCCCTCCTCCTCTCCCCAG
Seq C2 exon
GGACAGTGAGGTCCCAGGCCCCACACCCATGGAACTGGAGGCCGAGCAGCTGCTTGAGCCACACGTGCAAGCGCCCAGCCTGGAGCCCTCGGTGTCCCCACAGGATGAAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-DMPK:NM_004409:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.152 A=NA C2=0.947
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF104814=CENP-F_N=PU(20.4=87.5),PF041569=IncA=PU(15.2=66.7),PF136001=DUF4140=PU(6.2=25.0),PF0126119=AP_endonuc_2=PU(0.8=4.2),PF102674=Tmemb_cc2=PU(15.5=66.7),PF0157614=Myosin_tail_1=PU(8.4=33.3),PF154781=LKAAEAR=PU(6.5=25.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)