HsaEX0012366 @ hg38
Exon Skipping
Gene
ENSG00000092529 | CAPN3
Description
calpain 3 [Source:HGNC Symbol;Acc:HGNC:1480]
Coordinates
chr15:42388928-42392722:+
Coord C1 exon
chr15:42388928-42389096
Coord A exon
chr15:42389953-42390096
Coord C2 exon
chr15:42392639-42392722
Length
144 bp
Sequences
Splice sites
3' ss Seq
CATTCTCCATCGGGCCTCAGGAT
3' ss Score
6.26
5' ss Seq
CGGGTGTGT
5' ss Score
5.31
Exon sequences
Seq C1 exon
GCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACATGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGAT
Seq A exon
GATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGG
Seq C2 exon
ACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092529-'5-18,'5-16,6-18=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.375 C2=0.036
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=FE(18.9=100)
A:
PF0064816=Peptidase_C2=PD(4.4=18.8),PF0064816=Peptidase_C2=PU(30.4=93.8)
C2:
PF0064816=Peptidase_C2=FE(18.2=100)
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCCATGGTTCCTACGAAGC
R:
CCGTGACAGAGTAGGCGTGA
Band lengths:
242-386
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development