HsaEX6002904 @ hg38
Exon Skipping
Gene
ENSG00000014216 | CAPN1
Description
calpain 1 [Source:HGNC Symbol;Acc:HGNC:1476]
Coordinates
chr11:65182701-65183592:+
Coord C1 exon
chr11:65182701-65182968
Coord A exon
chr11:65183128-65183197
Coord C2 exon
chr11:65183474-65183592
Length
70 bp
Sequences
Splice sites
3' ss Seq
GGACTCTGGGTCTCTCGTAGGAA
3' ss Score
6.15
5' ss Seq
TGGGTAGGC
5' ss Score
6.03
Exon sequences
Seq C1 exon
GATGTCGGAGGAGATCATCACGCCGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACG
Seq A exon
GAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGG
Seq C2 exon
GGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000014216_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=PU(11.3=38.2)
A:
PF0064816=Peptidase_C2=FE(15.9=100)
C2:
PF0064816=Peptidase_C2=PD(13.2=81.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGTTACAAGGACCTGGGTC
R:
AATGGAAGATGCCGGCATAGC
Band lengths:
179-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains