HsaINT0027548 @ hg38
Intron Retention
Gene
ENSG00000203697 | CAPN8
Description
calpain 8 [Source:HGNC Symbol;Acc:HGNC:1485]
Coordinates
chr1:223616898-223619453:-
Coord C1 exon
chr1:223619293-223619453
Coord A exon
chr1:223618282-223619292
Coord C2 exon
chr1:223616898-223618281
Length
1011 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
ACTAATGTGTCCCTGTGTAGGCT
3' ss Score
8.51
Exon sequences
Seq C1 exon
GATGTCACTTTCAGATTTCGTGAGGCAGTTCTCTCGGTTGGAGATCTGCAACCTGTCCCCGGACTCTCTGAGTAGCGAGGAGGTGCACAAATGGAACCTGGTCCTGTTCAACGGCCACTGGACCCGGGGCTCCACAGCTGGGGGCTGCCAGAACTACCCAG
Seq A exon
GTAAGGTGAAGGGCTGCCTTGGCCCAACCTCCTCCAGCTTATCCTCCCTGAGCTGGGTCATTTTATGTAATTTTTTGGTGCTATTTTGTGTGTTTTTTTGAGACAGGGCCTTGCTCTGTTCCCCAGGTTGGAGTGTAGTGGCACGATCTCTGCTCATCACAACCTCCGCCTCCCGGGCTCAAGTGATCCTCTCACCTCAGCCTTCTTAGTAGCTGGGACCACAGGCATGCACCACCATGCCTGGCTAATTTTTAAAAAATGTTTTTGTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCGAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGTTGTGAGCCACCGTGCCCAGCCCTATGTGTTAATCTTTGGATAAGGCCTTTGGACTTTGTTCTTTGACTTCTGGGCACCCTCTGGAGGCCCTGCTTCTCCCTAGGGCTTGGAGGCCAGGGTTGTGAGGGTGGGCAGTGGCTCTGCAGCCGCTCAGCTGCAGCCTGAACCATGTGTTCAAACCATCCCTGCTTCACCCACCTGCCCTGCCCGCAAAGGACGTGCTTTCCACACTAGCCCTGCTCTTGGCACCTTATGCTAAGGCCTCCTGTTCTTCCCTTGGGCTTTTGCCCCTTCCTCCCCACTCCCCTCCCCACACCCAGCTGGCTAGCAGTCACCCTGCTGACCTCTGGGACAGAGTGGCTGATGGTGCGCTAGGGGAACACGGGTACAACATCTGCTGTTTCAATAGGCTGCATCCAATAGAGCTGCTGTTTCACTGTGTGTTTGTGCCTGAGTTGGAGGTGGAGGGGCAAAGACAGCGTGGGCCGTGATGGCCACACACAGGGCATGCGTGTCATGGGGACTCAGACCCTGGTGGAGATAGTATGGTGCAAAGCATGGCCTCCGCACTAACCCTGGGTCCTCACCTGGTGCAAGGTGGGAAGCTTTCCTGGCTCGCAGAAGATCACTAATGTGTCCCTGTGTAG
Seq C2 exon
GCTCCTCCTAGGTTGAATCAGCTGAGGCAGCACCTGATGAAGAAACTCAGGAAGACAGCCCCACATCTCTAAGGAGAAATGAAGAAAAGCAAATCCTGCTCTCTCTACTTTTCACCTCCTGCTCCCCATGTTCCCTGCCTGGTTTGCTGTTGATCTGTTGATTGACTTAGACTGTAAGCGCATGGGGCAGGGCCAGTCACTTTCTTCTCATGACAGAGCTCACTGCAGGGCTGTGCTCGGTGCTAGGGAAGCAGCATTAGAATAAAACCCCACCTGGATGCAGTGCTGGGTCTTGACAAGTTCTCTCTTCTTTCATCACCCATCCAACCCAAAGCTCCCGGTTCAGGCAGCTGTGACCAGAGTGCTGAACAGAGAGGAAGGAAAGGGGTCCACATCCTGCCCTTGTTGCTTGATTTAGACTCTGGGAAGGGCATTTCCCTCTTCTGAGCTTCAGTTTCCTAGTCCTCCAGATGGGGTTCAACCTTCCAACCTTACTGGGTCACTGCAAGCCTTGGAACACAGAGTGTGTAGGGAAGCACTTTGTAAACTGTGTAGCATTATATAAATGGGAGTATTATTTTTATGGCCCATTCTCTTCCTCCAGTACTGTTAAGGAGTAAACAAAAAATGTATGGATTGCAGTAATGTTGCATTTGGGAGAAATTAAAATATGCTCACCATTAGCAAGCTCTTAGAAAATGTGGAGGAAATTTGCATGGATCATTTTGGGAGCTCAGAACTGTAGGGGGTGCACAAGGTATCTGGATGCACCAAATCACAGTCCCATCCATGCTGCCAACTAGCTGTCAGGAAGACATGGATAGTTCCTGCCCTTTGGTAGTGATGGAAGTATAGGCGATTACAGATTTTTTTTTCCATCTCCTATGGGATCCACAGATATCCGGCTTTAAAATCCATAAACTTGAGCCCTAAAACAAACAAACAAACAAAACACAGCAACAAAAAAACAAAACAAAACAAAACAAACAACCCCCCCCCCCAAAAAAAAAGTGGAAGTGGGGATTCTGAGAAGGTGGAATTGAATAAGTAATCCTACTGTAAAGAAAAGTGATAATCAATGGCTCTTGGTCACCTGTGAATGCCTTGTTATTTTCCAAGTTAGACTCTTCTTTAAAGGATGTAAGGAAAAATCCCATGCCCTTCCACTTCTTTTTTCCTCCCGGGCACATCATTATTGAAATTGTTGAGGCCCTAGAGTGGAGACACCTGTCAGGCGTGCCTTCTGCAATTTTGCTCTGCCACTGGACTCTGTCATAGACTTGCTGCATATCCTTGGATGATCCTTTTAATCTCTCCGTGCCTTGGCTTGTGTACTTACTATTCTGAGAGATTTAAAAAAAGCCATCTTTGAAATGAAGGAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000203697:ENST00000366873:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.058 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0064816=Peptidase_C2=PD(6.3=34.5),PF0106717=Calpain_III=PU(15.2=43.6)
A:
NA
C2:
PF0106717=Calpain_III=PD(3.8=25.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGGCAGTTCTCTCGGTTG
R:
GAAGAAAGTGACTGGCCCTGC
Band lengths:
349-1360
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