HsaEX6037293 @ hg38
Exon Skipping
Gene
ENSG00000135773 | CAPN9
Description
calpain 9 [Source:HGNC Symbol;Acc:HGNC:1486]
Coordinates
chr1:230774554-230780336:+
Coord C1 exon
chr1:230774554-230774631
Coord A exon
chr1:230778973-230779133
Coord C2 exon
chr1:230780179-230780336
Length
161 bp
Sequences
Splice sites
3' ss Seq
GTCTCTCCGCTTTGCTGCAGGAT
3' ss Score
9.29
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
TTCTCCGGAGTGGCGTTCTGTTGGTCCAGCTGAGCAGAAGCGTCTGTGTCACACTGCTCTGGATGATGGGGAATTCTG
Seq A exon
GATGGCATTTAAGGACTTCAAGGCCCACTTTGATAAAGTGGAGATCTGCAACCTCACTCCCGATGCCCTGGAGGAAGACGCGATCCACAAATGGGAGGTGACGGTCCATCAGGGAAGCTGGGTTCGCGGCTCCACGGCTGGGGGCTGCCGCAATTTCCTGG
Seq C2 exon
ATACCTTTTGGACCAATCCACAAATAAAATTGTCTCTGACTGAGAAAGATGAGGGGCAGGAGGAGTGTAGTTTCCTTGTAGCCCTGATGCAGAAAGATAGAAGGAAACTCAAGAGATTTGGTGCCAATGTGCTGACAATCGGCTATGCCATTTATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135773-'12-12,'12-11,16-12=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.111 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=FE(12.7=100)
A:
PF0064816=Peptidase_C2=PD(6.4=34.5),PF0106717=Calpain_III=PU(16.3=43.6)
C2:
PF0106717=Calpain_III=FE(35.4=100)
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:
TTCTCCGGAGTGGCGTTCT
R:
GCATAGCCGATTGTCAGCACA
Band lengths:
226-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains