Special

HsaINT0027396 @ hg38

Intron Retention

Gene
ENSG00000162949 | CAPN13
Description
calpain 13 [Source:HGNC Symbol;Acc:HGNC:16663]
Coordinates
chr2:30742326-30743579:-
Coord C1 exon
chr2:30743383-30743579
Coord A exon
chr2:30742360-30743382
Coord C2 exon
chr2:30742326-30742359
Length
1023 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAG
5' ss Score
8.68
3' ss Seq
ACTGTCCTCTGATTTTCTAGGCA
3' ss Score
10.72
Exon sequences
Seq C1 exon
CGGTTCCGGGAGAAATTTCCACCCGTGTTTTTTTCCTCGTTCAGAAACACTGTCCAAAGCTCAAATAATAAATTCCGCCGCAACTTCACCATGACTTACCATCTGAGCCCTGGGAACTATGTTGTGGTTGCACAGACACGGAGAAAATCAGCGGAGTTCTTGCTCCGAATCTTCCTGAAAATGCCAGACAGTGACAG
Seq A exon
GTACAGAACCCTCTGGGATTGTAAATGTTTTATTCTACTTAACTTTATAAAAACACATTGTGTAATTATGGGCAGTTCTCTGTGCATTCGTGCAGCCTGTGCTATGTCACTGGGGACATGATATTGGCCCCACTCTAGAGCAGCTCACCATAAAGGGGGAGCGAGAAAGTCTATGAACCAAGAACCAGACCACAAACAGGATGGGTCCATTGCCAGATGGAAATGCAAAGTGGCACGGGAGGACTGAGTGGCAAGAGGGACTGAGGAAGGCTTCTTGAGGGAAATGACACGTGAGCTGGGCTTTGAAGAAAAACATAATTTAATAGTTTAAAAGGGAAGGCGATGGTAGCCATGGGAAGGTAGGTAGAAGAAAAAAGCATGAATGGCGGGAGGGAAGTGGCTGTGCACAGGGCTGCTTGGAGAGTAAGTAGCATCGGCATCCATACAGGAAGGTGGCATTTGGCCAGCATATCACATGGCCTGAAATGTGGGGTATAGCAGGGAGACAGTGAAAGATGGGCCTGAAAGAAAGAGTCCATCATGGAGGGTCTTCCATGCCAACTTGATCATTCAAGACTGGGACCAGCAAGTGCTCACCCCACTGGGCCCCTTGTCTCCTCTTGGGCCCAAGACAGACATTGCCATCATTATGGCAGTCTTTGCAGCTGAGCATTGGTGAGACCTTCTAAGTCCAGCATGCCAGGCCGCCATCATACCACCAATCAGAGATGGAACCTAAGGCAGAGCCTATCTGCCATACTGACAATGGGGGTTGCTGGAAGTGTGTATCGGGTTGTGGAAGGAACCATTTACTAAACAGTTAAAGACCAGACCATTTCCAGCCAAAAGGCTGGGCTGGTGGCCACGGTGCTGTAGCTGCTCACTTCGTGTCCTGCGGTGCTGAGGGTGCCCCATTCAGGAACTTGGCATCAATATCCAGTGCCACCTGGGTGCCCTCTATATGCAGGCCCCCTTTGAGTGGTGAGCTGGTCATCTTTGTCACACTGTCCTCTGATTTTCTAG
Seq C2 exon
GCACCTGAGCAGCCATTTCAACCTCAGAATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162949:ENST00000295055:13
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=0.667
Domain overlap (PFAM):

C1:
PF0106717=Calpain_III=FE(47.4=100)
A:
NA
C2:
PF0106717=Calpain_III=PD(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTTCCGGGAGAAATTTCCA
R:
TTCATTCTGAGGTTGAAATGGCTG
Band lengths:
230-1253
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