HsaINT0027459 @ hg38
Intron Retention
Gene
ENSG00000092529 | CAPN3
Description
calpain 3 [Source:HGNC Symbol;Acc:HGNC:1480]
Coordinates
chr15:42399492-42401810:+
Coord C1 exon
chr15:42399492-42399652
Coord A exon
chr15:42399653-42401640
Coord C2 exon
chr15:42401641-42401810
Length
1988 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
3' ss Seq
CTTCCTTTCTGGGGGTGCAGATA
3' ss Score
6.03
Exon sequences
Seq C1 exon
GATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAG
Seq A exon
GTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAG
Seq C2 exon
ATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092529:ENST00000318023:9
Average complexity
IR
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:
PF0064816=Peptidase_C2=PD(12.8=34.5),PF0106717=Calpain_III=PU(15.5=43.6)
A:
NA
C2:
PF0106717=Calpain_III=FE(36.1=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:
TCCTATGAGGATTTCATCTACCATT
R:
CAATGGTGAAGAGACTGGCCC
Band lengths:
310-2298
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