HsaEX0040972 @ hg38
Exon Skipping
Gene
ENSG00000078814 | MYH7B
Description
myosin heavy chain 7B [Source:HGNC Symbol;Acc:HGNC:15906]
Coordinates
chr20:34999056-34999906:+
Coord C1 exon
chr20:34999056-34999405
Coord A exon
chr20:34999571-34999695
Coord C2 exon
chr20:34999791-34999906
Length
125 bp
Sequences
Splice sites
3' ss Seq
CAGCACCCTGTCCACTGCAGAGG
3' ss Score
5.48
5' ss Seq
GAGGTCAGG
5' ss Score
4.94
Exon sequences
Seq C1 exon
AAAAAAGCTGGCACTGCGGCTGCAGGAGGCAGAGGAGGGCGTGGAGGCTGCCAACGCCAAGTGCTCATCGTTGGAGAAGGCCAAGCTGCGGCTACAGACAGAGTCAGAGGATGTAACCCTGGAGCTGGAGCGGGCGACCTCAGCAGCTGCTGCGCTGGACAAGAAGCAGCGGCACTTGGAACGGGCACTGGAGGAACGGCGGCGGCAGGAGGAGGAGATGCAGCGGGAGCTGGAGGCGGCACAGAGGGAGTCCCGTGGCCTGGGCACCGAGCTCTTCCGGCTGCGGCACGGCCACGAGGAGGCACTTGAAGCCCTGGAGACGCTCAAGCGGGAGAACAAGAACCTGCAGG
Seq A exon
AGGAGATCAGCGACCTCACAGACCAGGTGAGTCTCAGTGGGAAGAGCATCCAGGAACTGGAGAAAACCAAGAAGGCGCTGGAAGGCGAGAAGAGTGAGATCCAGGCTGCACTGGAGGAGGCAGAG
Seq C2 exon
GGGGCCCTGGAGCTGGAGGAGACCAAGACGCTGCGGATCCAGCTGGAGCTCTCCCAGGTCAAAGCAGAAGTGGACCGGAAGCTGGCAGAGAAAGACGAGGAGTGCGCTAACCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078814_CASSETTE5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.678 A=0.810 C2=0.359
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(13.6=100),PF0003816=Filament=PD(34.2=79.7),PF045827=Reo_sigmaC=PU(68.2=87.3)
A:
PF0157614=Myosin_tail_1=FE(4.8=100),PF045827=Reo_sigmaC=FE(27.2=100)
C2:
PF0157614=Myosin_tail_1=FE(4.4=100),PF045827=Reo_sigmaC=PD(3.3=12.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCAGGAGGAGGAGATGCAG
R:
GCACTCCTCGTCTTTCTCTGC
Band lengths:
252-377
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