HsaINT0048965 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45771350-45771665:-
Coord C1 exon
chr19:45771568-45771665
Coord A exon
chr19:45771397-45771567
Coord C2 exon
chr19:45771350-45771396
Length
171 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CCTCTTTCTTCTCCTTCCAGCTG
3' ss Score
12
Exon sequences
Seq C1 exon
TCAACTACGCGAGGCAGAGGCTCGGAACCGGGACCTAGAGGCACACGTCCGGCAGTTGCAGGAGCGGATGGAGTTGCTGCAGGCAGAGGGAGCCACAG
Seq A exon
GTGAGTCCCTCATGTGTCCCCTTCCCCGGAGGACCGGGAGGAGGTGGGCCGTCTGCTCCGCGGGGCGTGTATAGACACCTGGAGGAGGGAAGGGACCCACGCTGGGGCACGCCGCGCCACCGCCCTCCTTCGCCCCTCCACGCGCCCTATGCCTCTTTCTTCTCCTTCCAG
Seq C2 exon
CTGTCACGGGGGTCCCCAGTCCCCGGGCCACGGATCCACCTTCCCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.846 A=NA C2=0.932
Domain overlap (PFAM):
C1:
PF041569=IncA=FE(31.4=100),PF0157614=Myosin_tail_1=FE(34.7=100),PF0126119=AP_endonuc_2=FE(28.0=100),PF139491=ALIX_LYPXL_bnd=FE(33.3=100),PF032458=Phage_lysis=FE(31.4=100),PF088265=DMPK_coil=PD(47.5=85.3)
A:
NA
C2:
NO
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAACTACGCGAGGCAGAGG
R:
ATGGGAAGGTGGATCCGTGG
Band lengths:
145-316
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