HsaEX6020969 @ hg19
Exon Skipping
Gene
ENSG00000006788 | MYH13
Description
myosin, heavy chain 13, skeletal muscle [Source:HGNC Symbol;Acc:7571]
Coordinates
chr17:10248784-10254011:-
Coord C1 exon
chr17:10253873-10254011
Coord A exon
chr17:10249997-10250115
Coord C2 exon
chr17:10248784-10248933
Length
119 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTTCTCTTCCTTCAGTGG
3' ss Score
9.82
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
AATGCCATTGACATCCTGGGCTTCAGCTCAGAGGAGAAAGTCGGGATCTACAAACTGACGGGAGCCGTGATGCATTATGGGAACATGAAGTTCAAGCAGAAGCAGCGTGAGGAGCAGGCGGAGCCAGACGGCACCGAAG
Seq A exon
TGGCTGACAAAGCCGGATACCTGATGGGACTGAATTCTGCAGAAATGCTGAAGGGCCTGTGCTGTCCAAGGGTGAAGGTTGGCAATGAATATGTCACTAAAGGGCAAAATGTCCAGCAG
Seq C2 exon
GTGACCAATTCGGTGGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTGTGGATGGTCACCCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATCGGGGTCTTGGACATTGCTGGCTTTGAGATCTTTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000006788-'12-13,'12-12,13-13=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=0.245 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(6.7=100)
A:
PF0006316=Myosin_head=FE(5.7=100)
C2:
PF0006316=Myosin_head=FE(7.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCAGAGGAGAAAGTCGGG
R:
TGTCCAAGACCCCGATGAAGT
Band lengths:
242-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)