HsaEX0019990 @ hg38
Exon Skipping
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45769736-45771665:-
Coord C1 exon
chr19:45771568-45771665
Coord A exon
chr19:45770971-45771060
Coord C2 exon
chr19:45769736-45770640
Length
90 bp
Sequences
Splice sites
3' ss Seq
CCTGTCCCTTCTCTCTCCAGCTA
3' ss Score
12.23
5' ss Seq
AGGGTACGT
5' ss Score
9.15
Exon sequences
Seq C1 exon
TCAACTACGCGAGGCAGAGGCTCGGAACCGGGACCTAGAGGCACACGTCCGGCAGTTGCAGGAGCGGATGGAGTTGCTGCAGGCAGAGGGAGCCACAG
Seq A exon
CTAGATGGCCCCCCGGCCGTGGCTGTGGGCCAGTGCCCGCTGGTGGGGCCAGGCCCCATGCACCGCCGCCACCTGCTGCTCCCTGCCAGG
Seq C2 exon
GTCCCTAGGCCTGGCCTATCGGAGGCGCTTTCCCTGCTCCTGTTCGCCGTTGTTCTGTCTCGTGCCGCCGCCCTGGGCTGCATTGGGTTGGTGGCCCACGCCGGCCAACTCACCGCAGTCTGGCGCCGCCCAGGAGCCGCCCGCGCTCCCTGAACCCTAGAACTGTCTTCGACTCCGGGGCCCCGTTGGAAGACTGAGTGCCCGGGGCACGGCACAGAAGCCGCGCCCACCGCCTGCCAGTTCACAACCGCTCCGAGCGTGGGTCTCCGCCCAGCTCCAGTCCTGTGATCCGGGCCCGCCCCCTAGCGGCCGGGGAGGGAGGGGCCGGGTCCGCGGCCGGCGAACGGGGCTCGAAGGGTCCTTGTAGCCGGGAATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGGGGGATCACAGACCATTTCTTTCTTTCGGCCAGGCTGAGGCCCTGACGTGGATGGGCAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936_MULTIEX1-2/2=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.846 A=0.546 C2=0.174
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:
NO
C2:
NO


Other Inclusion 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:
CTCGGAACCGGGACCTAGAG
R:
CAACCCAATGCAGCCCAGG
Band lengths:
168-258
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