HsaINT0027470 @ hg19
Intron Retention
Gene
ENSG00000092529 | CAPN3
Description
calpain 3, (p94) [Source:HGNC Symbol;Acc:1480]
Coordinates
chr15:42702786-42703198:+
Coord C1 exon
chr15:42702786-42702864
Coord A exon
chr15:42702865-42703081
Coord C2 exon
chr15:42703082-42703198
Length
217 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCTG
5' ss Score
4.87
3' ss Seq
TAACATGGTCCCCTCCACAGGAT
3' ss Score
9.59
Exon sequences
Seq C1 exon
AAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAG
Seq A exon
GTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAG
Seq C2 exon
GATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092529-CAPN3:NM_024344:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0175117=Toprim=FE(20.2=100),PF0003627=EF-hand_1=PD(86.2=92.6)
A:
NA
C2:
PF0175117=Toprim=PD(13.9=35.0),PF134991=EF-hand_7=FE(41.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAACACTATGACACAGACCAGT
R:
GAACATGCCCTCCAGCCTAAC
Band lengths:
188-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)