Special

HsaEX6095707 @ hg19

Exon Skipping

Gene
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46275029-46278292:-
Coord C1 exon
chr19:46278207-46278292
Coord A exon
chr19:46275899-46276010
Coord C2 exon
chr19:46275029-46275186
Length
112 bp
Sequences
Splice sites
3' ss Seq
CTCCCTCCTCCTCTCCCCAGGGA
3' ss Score
12.87
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GAGACACTGTCGGACATTCGGGAAGGTGCGCCGCTAGGGGTCCACCTGCCTTTTGTGGGCTACTCCTACTCCTGCATGGCCCTCAG
Seq A exon
GGACAGTGAGGTCCCAGGCCCCACACCCATGGAACTGGAGGCCGAGCAGCTGCTTGAGCCACACGTGCAAGCGCCCAGCCTGGAGCCCTCGGTGTCCCCACAGGATGAAACA
Seq C2 exon
GCTGAAGTGGCAGTTCCAGCGGCTGTCCCTGCGGCAGAGGCTGAGGCCGAGGTGACGCTGCGGGAGCTCCAGGAAGCCCTGGAGGAGGAGGTGCTCACCCGGCAGAGCCTGAGCCGGGAGATGGAGGCCATCCGCACGGACAACCAGAACTTCGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-'12-14,'12-13,13-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.152 A=0.947 C2=0.955
Domain overlap (PFAM):

C1:
NO
A:
PF104814=CENP-F_N=PU(26.9=73.7),PF041569=IncA=PU(18.5=52.6),PF0126119=AP_endonuc_2=PU(0.6=2.6)
C2:
PF104814=CENP-F_N=FE(50.5=100),PF041569=IncA=FE(49.5=100),PF136001=DUF4140=FE(53.6=100),PF0126119=AP_endonuc_2=FE(44.1=100),PF093045=Cortex-I_coil=PU(59.5=88.7),PF102674=Tmemb_cc2=FE(50.5=100),PF0157614=Myosin_tail_1=FE(54.7=100),PF032458=Phage_lysis=PU(40.0=79.2),PF154781=LKAAEAR=FE(56.5=100),PF060097=Laminin_II=PU(57.8=90.6),PF088265=DMPK_coil=PU(50.8=58.5),PF139491=ALIX_LYPXL_bnd=PU(44.4=83.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
GAGACACTGTCGGACATTCGG
R:
CTGGCGAAGTTCTGGTTGTCC
Band lengths:
244-356
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains