Special

HsaEX0040955 @ hg38

Exon Skipping

Gene
Description
myosin heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:23212]
Coordinates
chr19:50230525-50232070:+
Coord C1 exon
chr19:50230525-50230623
Coord A exon
chr19:50230825-50230999
Coord C2 exon
chr19:50231930-50232070
Length
175 bp
Sequences
Splice sites
3' ss Seq
CTGCTGCGCTCTGGTTCCAGCTC
3' ss Score
8.67
5' ss Seq
CTGGTTTGT
5' ss Score
4.29
Exon sequences
Seq C1 exon
ACCTGCTGGAGAAGTCGCGGGCCATCCGCCAGGCCAAGGACGAGTGCAGCTTCCACATCTTCTACCAGCTGCTGGGGGGCGCTGGAGAGCAGCTCAAAG
Seq A exon
CTCTGTCCCGGGTCTGGCTCGCGCCCGCTGTCACGGCCACGCAGCCCCCGCCGCCTGGTGGCTCCTGCTCACGCTCGCTTCCGAAGCTCCGTGGCTTCTCTCTCGCGCGGCTTCTCCTCACTCCGGCGGGTGACTCCGGCTTTGCTGAGGCTCCTCCTGGTTCCTGACGACGCTG
Seq C2 exon
CCGACCTCCTCCTCGAGCCCTGCTCCCACTACCGGTTCCTGACCAACGGGCCGTCATCCTCTCCCGGCCAGGAGCGGGAACTCTTCCAGGAGACGCTGGAGTCGCTGCGGGTCCTGGGATTCAGCCACGAGGAAATCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105357_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.273 C2=0.146
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=FE(14.8=100)
A:
PF0006316=Myosin_head=PD(1.8=7.1)
C2:
PF0006316=Myosin_head=FE(6.9=100)


Main Inclusion Isoform:
ENST00000601313fB4480


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
ACCTGCTGGAGAAGTCGCG
R:
ATTTCCTCGTGGCTGAATCCC
Band lengths:
235-410
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