Special

HsaEX0012357 @ hg19

Exon Skipping

Gene
ENSG00000182472 | CAPN12
Description
calpain 12 [Source:HGNC Symbol;Acc:13249]
Coordinates
chr19:39221747-39224844:-
Coord C1 exon
chr19:39224782-39224844
Coord A exon
chr19:39224343-39224421
Coord C2 exon
chr19:39221747-39221863
Length
79 bp
Sequences
Splice sites
3' ss Seq
GACTCATCCTTCCTGCCCAGGCC
3' ss Score
7.6
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
CATGGGCAAAGCCTGGCCTTACACCACTTCCAGCAGCTCTGGGGCTACCTCCTGGAGTGGCAG
Seq A exon
GCCATATTTAACAAGTTCGATGAGGACACCTCTGGAACCATGAACTCCTACGAGCTGAGGCTGGCACTGAATGCAGCAG
Seq C2 exon
GCTTCCACCTGAACAACCAGCTGACCCAGACCCTCACCAGCCGCTACCGGGATAGCCGTCTGCGTGTGGACTTCGAGCGGTTCGTGTCCTGTGTGGCCCACCTCACCTGCATCTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182472_MULTIEX1-5/5=4-C2
Average complexity
C1*
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:
PF0003627=EF-hand_1=PU(6.9=9.5)
A:
PF0003627=EF-hand_1=PD(86.2=92.6)
C2:
PF134991=EF-hand_7=PD(46.3=77.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGCCTTACACCACTTCCAG
R:
AGAAGATGCAGGTGAGGTGGG
Band lengths:
168-247
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