HsaEX1006928 @ hg38
Exon Skipping
Gene
ENSG00000182472 | CAPN12
Description
calpain 12 [Source:HGNC Symbol;Acc:HGNC:13249]
Coordinates
chr19:38741777-38742528:-
Coord C1 exon
chr19:38742410-38742528
Coord A exon
chr19:38742248-38742325
Coord C2 exon
chr19:38741777-38741910
Length
78 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTTTTTTTTTTTGAGATG
3' ss Score
4.56
5' ss Seq
CAGGTTCAA
5' ss Score
1.19
Exon sequences
Seq C1 exon
GTAACTGCTGGTTCCTTGCAGCTGCCGCCTCCCTTACTCTGTATCCCCGGCTCCTGCGCCGGGTGGTCCCTCCTGGACAGGATTTCCAGCATGGCTACGCAGGCGTCTTCCACTTCCAG
Seq A exon
ATGGAATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCCCGCCCCCAG
Seq C2 exon
CTCTGGCAGTTTGGCCGCTGGATGGACGTCGTGGTGGATGACAGGCTGCCCGTGCGTGAGGGGAAGCTGATGTTCGTGCGCTCGGAACAGCGGAATGAGTTCTGGGCCCCACTCCTGGAGAAGGCCTACGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182472-'8-8,'8-7,9-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=FE(13.1=100)
A:
PF0064816=Peptidase_C2=PD(6.6=26.9),PF139001=GVQW=PU(76.9=76.9),PF0064816=Peptidase_C2=PU(2.0=15.4)
C2:
PF139001=GVQW=PD(15.4=8.9),PF0064816=Peptidase_C2=FE(21.6=100)
Main Inclusion Isoform:
ENST00000328867fB11290
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GCCGCCTCCCTTACTCTGTAT
R:
GAACATCAGCTTCCCCTCACG
Band lengths:
171-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains