Special

HsaEX0012355 @ hg38

Exon Skipping

Gene
ENSG00000182472 | CAPN12
Description
calpain 12 [Source:HGNC Symbol;Acc:HGNC:13249]
Coordinates
chr19:38733703-38734870:-
Coord C1 exon
chr19:38734813-38734870
Coord A exon
chr19:38734319-38734389
Coord C2 exon
chr19:38733703-38733781
Length
71 bp
Sequences
Splice sites
3' ss Seq
TGACTTTGTTTTTCCTGTAGCCA
3' ss Score
8.85
5' ss Seq
GGGGTACAT
5' ss Score
1.77
Exon sequences
Seq C1 exon
GAGGAAGAACTCAATGCCTCTCAGCTCCAGGCCTTACTAAGCATTGCCCTGGAGCCTG
Seq A exon
CCAGGGCCCATACCTCCACCCCCAGAGAGATCGGGCTCAGGACCTGTGAGCAGCTGCTGCAGTGTTTCGGG
Seq C2 exon
GCCATATTTAACAAGTTCGATGAGGACACCTCTGGAACCATGAACTCCTACGAGCTGAGGCTGGCACTGAATGCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182472_MULTIEX1-3/5=2-5
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0003627=EF-hand_1=PD(86.2=92.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGAACTCAATGCCTCTCAGCT
R:
CATTCAGTGCCAGCCTCAGC
Band lengths:
127-198
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development