HsaINT0027548 @ hg19
Intron Retention
Gene
ENSG00000203697 | CAPN8
Description
calpain 8 [Source:HGNC Symbol;Acc:1485]
Coordinates
chr1:223803670-223807155:-
Coord C1 exon
chr1:223806995-223807155
Coord A exon
chr1:223803848-223806994
Coord C2 exon
chr1:223803670-223803847
Length
3147 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
ATCACCTGGGTGACTTCCAGCCA
3' ss Score
3.89
Exon sequences
Seq C1 exon
GATGTCACTTTCAGATTTCGTGAGGCAGTTCTCTCGGTTGGAGATCTGCAACCTGTCCCCGGACTCTCTGAGTAGCGAGGAGGTGCACAAATGGAACCTGGTCCTGTTCAACGGCCACTGGACCCGGGGCTCCACAGCTGGGGGCTGCCAGAACTACCCAG
Seq A exon
GTAAGGTGAAGGGCTGCCTTGGCCCAACCTCCTCCAGCTTATCCTCCCTGAGCTGGGTCATTTTATGTAATTTTTTGGTGCTATTTTGTGTGTTTTTTTGAGACAGGGCCTTGCTCTGTTCCCCAGGTTGGAGTGTAGTGGCACGATCTCTGCTCATCACAACCTCCGCCTCCCGGGCTCAAGTGATCCTCTCACCTCAGCCTTCTTAGTAGCTGGGACCACAGGCATGCACCACCATGCCTGGCTAATTTTTAAAAAATGTTTTTGTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCGAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGTTGTGAGCCACCGTGCCCAGCCCTATGTGTTAATCTTTGGATAAGGCCTTTGGACTTTGTTCTTTGACTTCTGGGCACCCTCTGGAGGCCCTGCTTCTCCCTAGGGCTTGGAGGCCAGGGTTGTGAGGGTGGGCAGTGGCTCTGCAGCCGCTCAGCTGCAGCCTGAACCATGTGTTCAAACCATCCCTGCTTCACCCACCTGCCCTGCCCGCAAAGGACGTGCTTTCCACACTAGCCCTGCTCTTGGCACCTTATGCTAAGGCCTCCTGTTCTTCCCTTGGGCTTTTGCCCCTTCCTCCCCACTCCCCTCCCCACACCCAGCTGGCTAGCAGTCACCCTGCTGACCTCTGGGACAGAGTGGCTGATGGTGCGCTAGGGGAACACGGGTACAACATCTGCTGTTTCAATAGGCTGCATCCAATAGAGCTGCTGTTTCACTGTGTGTTTGTGCCTGAGTTGGAGGTGGAGGGGCAAAGACAGCGTGGGCCGTGATGGCCACACACAGGGCATGCGTGTCATGGGGACTCAGACCCTGGTGGAGATAGTATGGTGCAAAGCATGGCCTCCGCACTAACCCTGGGTCCTCACCTGGTGCAAGGTGGGAAGCTTTCCTGGCTCGCAGAAGATCACTAATGTGTCCCTGTGTAGGCTCCTCCTAGGTTGAATCAGCTGAGGCAGCACCTGATGAAGAAACTCAGGAAGACAGCCCCACATCTCTAAGGAGAAATGAAGAAAAGCAAATCCTGCTCTCTCTACTTTTCACCTCCTGCTCCCCATGTTCCCTGCCTGGTTTGCTGTTGATCTGTTGATTGACTTAGACTGTAAGCGCATGGGGCAGGGCCAGTCACTTTCTTCTCATGACAGAGCTCACTGCAGGGCTGTGCTCGGTGCTAGGGAAGCAGCATTAGAATAAAACCCCACCTGGATGCAGTGCTGGGTCTTGACAAGTTCTCTCTTCTTTCATCACCCATCCAACCCAAAGCTCCCGGTTCAGGCAGCTGTGACCAGAGTGCTGAACAGAGAGGAAGGAAAGGGGTCCACATCCTGCCCTTGTTGCTTGATTTAGACTCTGGGAAGGGCATTTCCCTCTTCTGAGCTTCAGTTTCCTAGTCCTCCAGATGGGGTTCAACCTTCCAACCTTACTGGGTCACTGCAAGCCTTGGAACACAGAGTGTGTAGGGAAGCACTTTGTAAACTGTGTAGCATTATATAAATGGGAGTATTATTTTTATGGCCCATTCTCTTCCTCCAGTACTGTTAAGGAGTAAACAAAAAATGTATGGATTGCAGTAATGTTGCATTTGGGAGAAATTAAAATATGCTCACCATTAGCAAGCTCTTAGAAAATGTGGAGGAAATTTGCATGGATCATTTTGGGAGCTCAGAACTGTAGGGGGTGCACAAGGTATCTGGATGCACCAAATCACAGTCCCATCCATGCTGCCAACTAGCTGTCAGGAAGACATGGATAGTTCCTGCCCTTTGGTAGTGATGGAAGTATAGGCGATTACAGATTTTTTTTTCCATCTCCTATGGGATCCACAGATATCCGGCTTTAAAATCCATAAACTTGAGCCCTAAAACAAACAAACAAACAAAACACAGCAACAAAAAAACAAAACAAAACAAAACAAACAACCCCCCCCCCCAAAAAAAAAGTGGAAGTGGGGATTCTGAGAAGGTGGAATTGAATAAGTAATCCTACTGTAAAGAAAAGTGATAATCAATGGCTCTTGGTCACCTGTGAATGCCTTGTTATTTTCCAAGTTAGACTCTTCTTTAAAGGATGTAAGGAAAAATCCCATGCCCTTCCACTTCTTTTTTCCTCCCGGGCACATCATTATTGAAATTGTTGAGGCCCTAGAGTGGAGACACCTGTCAGGCGTGCCTTCTGCAATTTTGCTCTGCCACTGGACTCTGTCATAGACTTGCTGCATATCCTTGGATGATCCTTTTAATCTCTCCGTGCCTTGGCTTGTGTACTTACTATTCTGAGAGATTTAAAAAAAGCCATCTTTGAAATGAAGGAGTCTTTTTCAATATCCATACGTGGTGTGGCAGGACTGCTTCTTAATTGCCAATTGTGATTCCTCATGCATTATTAAATGACTTTCTCTTGAAGAAAGTGTGTCTCATCAGTGGGCTGCAACACTGAAGCCATCCTGTGAGGCCCCTGGGGTGATGGACAGCAGATTAGTTCTCAGGGGTGCCGCAGGCTGTGCTCTGCAGCTGGGGCCCTCTCAGAGGGAGAATAGGTGTCAATCAGATGGCAAGAGCAGTTGTCTTAATAGTGTCACGGAGAGACCTTTTTGGTAGCTAGTCTCTTCAGGGACTTTCTCCTCTACTGTCCTGGGGACATGCTTTTTACCCAGAGATCTCCCTTCCTCCAGAAGGTGGGTTTGCCTTCACATGTCAAGTGCTGAGAGCAAGGTGATGTTAAGTCTTTCCCCAGGAAGACTTGGAGGCAGTGCTGCCCAGTGTAGCCCTCGGATCATGGGATCCTGAATATTCCCAGTCAAGCACTTCTGGGCTCCTCGTTGATCAAATGGACAAGCACACATTTCCAAATGCGATGCCATATGTCTGTGTGTGTGGATGTGTAGGAAGGTAGGAGGAAATGCCTGACCACCTTGTAAAGAACACTTTCTGAGGCCTGCTTACTAGGCACAGTTTGGATGGAGCTGTGCATTCATTAGGATGATCAAGTTTCTTCCCTTTTACTTTATTCTTCTTCATCTCCTCACCCGCTACGTGGGGAACCACCATCACCTGGGTGACTTCCAG
Seq C2 exon
CCACGTACTGGACCAATCCCCAGTTCAAAATCCGTTTGGATGAAGTGGATGAGGACCAGGAGGAGAGCATCGGTGAACCCTGCTGTACAGTGCTGCTGGGCCTGATGCAGAAAAATCGCAGGTGGCGGAAGCGGATAGGACAAGGCATGCTTAGCATCGGCTATGCCGTCTACCAGGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000203697-CAPN8:NM_001143962:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.036 A=NA C2=0.011
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=PD(6.3=34.5),PF0106717=Calpain_III=PU(92.3=43.6)
A:
NA
C2:
PF0106717=Calpain_III=FE(60.6=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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)