HsaINT0048973 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45772641-45775034:-
Coord C1 exon
chr19:45774949-45775034
Coord A exon
chr19:45772753-45774948
Coord C2 exon
chr19:45772641-45772752
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:ENST00000447742:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.188 A=NA C2=0.946
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF041569=IncA=PU(15.2=66.7),PF0157614=Myosin_tail_1=PU(8.4=33.3),PF0126119=AP_endonuc_2=PU(0.8=4.2)
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