HsaEX0019989 @ hg19
Exon Skipping
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46274229-46274923:-
Coord C1 exon
chr19:46274826-46274923
Coord A exon
chr19:46274608-46274654
Coord C2 exon
chr19:46274229-46274318
Length
47 bp
Sequences
Splice sites
3' ss Seq
CCTCTTTCTTCTCCTTCCAGCTG
3' ss Score
12
5' ss Seq
CATGTAAGA
5' ss Score
5.58
Exon sequences
Seq C1 exon
TCAACTACGCGAGGCAGAGGCTCGGAACCGGGACCTAGAGGCACACGTCCGGCAGTTGCAGGAGCGGATGGAGTTGCTGCAGGCAGAGGGAGCCACAG
Seq A exon
CTGTCACGGGGGTCCCCAGTCCCCGGGCCACGGATCCACCTTCCCAT
Seq C2 exon
CTAGATGGCCCCCCGGCCGTGGCTGTGGGCCAGTGCCCGCTGGTGGGGCCAGGCCCCATGCACCGCCGCCACCTGCTGCTCCCTGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-'15-17,'15-16,16-17
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.765 A=1.000 C2=0.644
Domain overlap (PFAM):
C1:
PF104814=CENP-F_N=PD(27.2=82.4),PF041569=IncA=FE(31.4=100),PF136001=DUF4140=FE(34.0=100),PF0126119=AP_endonuc_2=FE(28.0=100),PF093045=Cortex-I_coil=PD(39.2=91.2),PF102674=Tmemb_cc2=FE(32.0=100),PF0157614=Myosin_tail_1=FE(34.7=100),PF032458=Phage_lysis=FE(31.4=100),PF154781=LKAAEAR=PD(34.8=94.1),PF060097=Laminin_II=FE(39.8=100),PF088265=DMPK_coil=PD(47.5=85.3),PF139491=ALIX_LYPXL_bnd=FE(33.3=100)
A:
PF041569=IncA=PD(0.9=6.2),PF0126119=AP_endonuc_2=FE(12.9=100),PF032458=Phage_lysis=FE(14.7=100),PF139491=ALIX_LYPXL_bnd=FE(16.0=100)
C2:
PF0126119=AP_endonuc_2=PD(10.3=41.4),PF032458=Phage_lysis=PD(9.8=34.5),PF139491=ALIX_LYPXL_bnd=PD(2.1=6.9)


Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
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
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)