HsaEX1006952 @ hg38
Exon Skipping
Gene
ENSG00000203697 | CAPN8
Description
calpain 8 [Source:HGNC Symbol;Acc:HGNC:1485]
Coordinates
chr1:223616388-223619453:-
Coord C1 exon
chr1:223619293-223619453
Coord A exon
chr1:223618109-223618281
Coord C2 exon
chr1:223616388-223616488
Length
173 bp
Sequences
Splice sites
3' ss Seq
ACTAATGTGTCCCTGTGTAGGCT
3' ss Score
8.51
5' ss Seq
ACTGTAAGC
5' ss Score
4.95
Exon sequences
Seq C1 exon
GATGTCACTTTCAGATTTCGTGAGGCAGTTCTCTCGGTTGGAGATCTGCAACCTGTCCCCGGACTCTCTGAGTAGCGAGGAGGTGCACAAATGGAACCTGGTCCTGTTCAACGGCCACTGGACCCGGGGCTCCACAGCTGGGGGCTGCCAGAACTACCCAG
Seq A exon
GCTCCTCCTAGGTTGAATCAGCTGAGGCAGCACCTGATGAAGAAACTCAGGAAGACAGCCCCACATCTCTAAGGAGAAATGAAGAAAAGCAAATCCTGCTCTCTCTACTTTTCACCTCCTGCTCCCCATGTTCCCTGCCTGGTTTGCTGTTGATCTGTTGATTGACTTAGACT
Seq C2 exon
TCTTTCCCCAGGAAGACTTGGAGGCAGTGCTGCCCAGTGTAGCCCTCGGATCATGGGATCCTGAATATTCCCAGTCAAGCACTTCTGGGCTCCTCGTTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000203697-'24-18,'24-17,25-18
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.058 A=1.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=PD(6.3=34.5),PF0106717=Calpain_III=PU(15.2=43.6)
A:
PF0106717=Calpain_III=PD(3.8=25.0)
C2:
PF0106717=Calpain_III=PD(16.7=8.9)
Main Inclusion Isoform:
ENST00000366872fB11305
Main Skipping Isoform:
ENST00000366872fB11306
Other Skipping Isoforms:
NA
Associated events
Conservation
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:
GTGAGGCAGTTCTCTCGGTTG
R:
ATCAACGAGGAGCCCAGAAGT
Band lengths:
243-416
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains