HsaINT0027547 @ hg38
Intron Retention
Gene
ENSG00000203697 | CAPN8
Description
calpain 8 [Source:HGNC Symbol;Acc:HGNC:1485]
Coordinates
chr1:223619293-223620266:-
Coord C1 exon
chr1:223620192-223620266
Coord A exon
chr1:223619454-223620191
Coord C2 exon
chr1:223619293-223619453
Length
738 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
CTCTGGTGCCTCTGCCCCAGGAT
3' ss Score
7.2
Exon sequences
Seq C1 exon
TGCACCAGAGTGGAATCACATAGACCCCCGGCGGAAGGAAGAACTGGACAAGAAAGTTGAGGATGGAGAATTCTG
Seq A exon
GTGAGAGAGTTTTCTGCTGAAGCGCTGTCCCATTGGTGATGGGTCCATTTTCAGTTCTGATGTGAACTCTAGGTCTCTGGGTCTTCCAGGAAGGCGACATGGTTCCTGATCATGGTGAATTCATTCTTCTCCTTTTGTCCTGGTATAATTCCACCTCTATACCAGCACGTCTAAAGCACTGAAACCATGATATCTAGGCCCTCAACCTGGCTTAGCTATCAGCCTGTCTTTCTCAGTTCTATTATCTTTCCAATGAACTGAGAGCACTGCTTCTATCTCTTTAAGCTAAGATTTACCTACCATCAATATGGGAGAACTTCCTTTGCTAGTGAGCTAAGGAAGATAATAAGGATACTCCTTGAATATGGTACGGCTTAGCTGGACATCACTCCGAATTAAACAAAAAGAAACCTCTTGTGAGCTTAGACTTAACCCAATCTAGAGGCAGAGGCTTTGTTGAGATGACCTCCTGGGGTCTTTTGCAGTTTACAGTTCAGATCCTTTGCTTGGTTGTTAAGATATGTGTGTGGGGCTCCCTGTAAGAGCCAAGAAGCTAGCGCTAGTGAAGAATGTGGACTGTTGTCTCTGCGTGTTTGTATCAGTGTGCTGTAGGAAAGATCAAGCTAGCCCACGGCCTCTAGGGCCTGTGCCACAGGGCTCCTTCCCGTGCTCAGTATGCGTGCCTTTAATCACAACCCAGCCCTCTTCACTGAGAGCCCTCTGGTGCCTCTGCCCCAG
Seq C2 exon
GATGTCACTTTCAGATTTCGTGAGGCAGTTCTCTCGGTTGGAGATCTGCAACCTGTCCCCGGACTCTCTGAGTAGCGAGGAGGTGCACAAATGGAACCTGGTCCTGTTCAACGGCCACTGGACCCGGGGCTCCACAGCTGGGGGCTGCCAGAACTACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000203697:ENST00000366873:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.308 A=NA C2=0.058
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=FE(8.3=100)
A:
NA
C2:
PF0064816=Peptidase_C2=PD(6.3=34.5),PF0106717=Calpain_III=PU(15.2=43.6)
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:
TGCACCAGAGTGGAATCACAT
R:
CTGGGTAGTTCTGGCAGCCC
Band lengths:
236-974
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