HsaINT0027471 @ hg19
Intron Retention
Gene
ENSG00000092529 | CAPN3
Description
calpain 3, (p94) [Source:HGNC Symbol;Acc:1480]
Coordinates
chr15:42703082-42703543:+
Coord C1 exon
chr15:42703082-42703198
Coord A exon
chr15:42703199-42703484
Coord C2 exon
chr15:42703485-42703543
Length
286 bp
Sequences
Splice sites
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
3' ss Seq
GCCTGTGCATTCTTTCACAGGAG
3' ss Score
9.68
Exon sequences
Seq C1 exon
GATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCA
Seq A exon
GTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAG
Seq C2 exon
GAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092529-CAPN3:NM_024344:21
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=PD(13.9=35.0),PF134991=EF-hand_7=FE(41.9=100)
A:
NA
C2:
PF0003627=EF-hand_1=PD(84.2=84.2)
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:
TCCACCTCAACAACCAGCTCT
R:
TCCAGAACGTTGAGCTTGATGA
Band lengths:
172-458
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)