HsaINT0027464 @ hg19
Intron Retention
Gene
ENSG00000092529 | CAPN3
Description
calpain 3, (p94) [Source:HGNC Symbol;Acc:1480]
Coordinates
chr15:42700409-42701578:+
Coord C1 exon
chr15:42700409-42700522
Coord A exon
chr15:42700523-42701500
Coord C2 exon
chr15:42701501-42701578
Length
978 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTCT
5' ss Score
2.68
3' ss Seq
TTTCCTTTGTGCCTCCACAGCCA
3' ss Score
10.4
Exon sequences
Seq C1 exon
CCCATCATCTTCGTTTCGGACAGAGCAAACAGCAACAAGGAGCTGGGTGTGGACCAGGAGTCAGAGGAGGGCAAAGGCAAAACAAGCCCTGATAAGCAAAAGCAGTCCCCACAG
Seq A exon
GTGTCTGGGCATGTGGCATGGGTGGGGTGGCCAGCACGCTACAGGGGCTTCCTATGCGCTTGGGATACACAGGGGCTGGAGGCTTCCCAGGAGTTTGTCTTGAACATCTGGAGGTTTGAATTTGTCCCACTGACCTTTTCTTTCAGCAAGTTCCCCTGAAATTTGGGCTGCTGCTTGGGTGAATATCCCAGGATGGGGGTTCCATTCTAGGAGTGGACTGGCAGGCTGAGCCTCCCATGGAGCTGATCCAGCCAGGATACAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAG
Seq C2 exon
CCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092529-CAPN3:NM_024344:15
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.707 A=NA C2=0.721
Domain overlap (PFAM):
C1:
PF156271=CEP76-C2=PD(19.0=50.0)
A:
NA
C2:
PF038858=DUF327=FE(30.9=100),PF134051=EF-hand_6=PU(28.2=42.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCATCATCTTCGTTTCGGACA
R:
TCTCCTGCTATCTGCTTGAAAATGT
Band lengths:
191-1169
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)