Special

HsaINT0027381 @ hg38

Intron Retention

Gene
ENSG00000182472 | CAPN12
Description
calpain 12 [Source:HGNC Symbol;Acc:HGNC:13249]
Coordinates
chr19:38731107-38733781:-
Coord C1 exon
chr19:38733703-38733781
Coord A exon
chr19:38731224-38733702
Coord C2 exon
chr19:38731107-38731223
Length
2479 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
3' ss Seq
CAGAAGCAGCCTCCCCCTAGGCT
3' ss Score
0.69
Exon sequences
Seq C1 exon
GCCATATTTAACAAGTTCGATGAGGACACCTCTGGAACCATGAACTCCTACGAGCTGAGGCTGGCACTGAATGCAGCAG
Seq A exon
GTGTGGACAGGGTCCTGGGGTGGTCGTGGGGACAGGACCTGTTCTCTCCCATCCCATTGTCTCCAAGTCCCCCTGCTCAGCTGTGGCCGTCTGCACTGTGGCCATCCACAGGCCCACACCTTAGCTTGTTGCCAGTCCCTGGCAGGGGTTGGGTGACCCTGAAAGAGGCCAAATAAGGAAGGAGAAGGGCAAGGGGCGTGTGTGGGGTGGGGAGGACATGAAAGGGGGATGTGCCTGGTAGGGGTTCTGGGGCAGGGAGAGGCCCCTCCAGGAAGGGGAAGATTAGGAGCTGGTATCTGAGAGGGTCTGGCCCCCAGGGCAGCATGGTAGAATGTTCTGGATTCTGGTGCACCGGGGTTGGAATCCTCACTCTACTGACTCCAGGAGGGGCCCTGGGCACTTGACTTCATCTCTTTGAGCCTCCATTTTCCTCTCTAAAATGGCCAGGGCCTGGTGTGGTGGCTCACACCTATGGTCCCAGCTACTCAGGAGGCTGAGGCTTGAGGATGGCTTGAGCCCGGGAGGCTGAGGCTGCAGTGAGCCGTGATTGTGCCTGGGTGACAGAGCAAGAGCCTGCCTCTCAAAAAAAAAAAAAAAAAGCTAGTACACAGGGTGGTGAGGAGTCGTCCATGCACTGCAGGGCATAGCACTTAGTGATTGGAGAATGCAGCTTTCATTACCAAAAGCCCCAAAGAGAGCCGGCCAATGGCCTCTGCTACTAGGCTGAGTTCCTCCTGATGAGCTGGAACAAGCCCAGCACAACATCCTAACCAAGAAAGAGAGCCAGAGAGAAAGGCTTTCCATGGGCTCCAAGGCAGATGAGACAGTACAGCACTGTGACCCTCATGTGGAGGGGATTTGGAGAGTGGGCTGGGGTCAGAACTTGGAGTTCCCAGATCCCCAACCCCACTCTGGGGCCTGTCTGCCACCACACAGCAGATGGAGCCACAGGGAGATGGGGGCTGGGGTGACTGTGATGGAGTCGGAGAGCCAGAGGGAGAGGGTTTGGGTGTGGCTGTGAGTGTGAGACCCAGAGAAGGTGGTCAAGTGTCCAAAAGAGCCAGCCGGGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCTAAGGCAGGCAGATTGCCAGATTGCTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGCGGAACCCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCATTGTACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAGAAAAAGCCCAAGTCAAAGGGGGAGAAATGGGGTCAGAGACAGCCAAGGATTGGGAGACGTGGGGCAGAGAGGGAGAGGCTGGGCCGGAGATAGACAGGAGTGGAGGTGAGGGAGCAAGGACTCACAGCAGGTGGCAGGTGGCAGGCTTGTGTTCACGCATCTGGCACCAGTGAGTGCCTGTTACATGCCAGGAGTTATTCCAGGAAGAAGGAAACTGATAAAGTGCCCTTGAGAATTTCTCAAACGGGAACTCCTGCAGTGGCAGCTGAGGGGCTCCAGCGCCTTCTCGGGTCCTTCCACCCCATCTGGCTGGGTTTCCCCATAGCCCTGGGCATGGCAGCCTCCACCCCTATGCCCGAGGGCAGATGAATGCCAGAGGGAGTGACCTGGGGCAGGTCACACGGGCAGGAAGAGGCTGCAGGCCACCTGCCCTCCTGTTAAAACAGCACCTGGCACTGGGCACAGCATGAAATGGCACTTACTTGGTAGATATTTGTGAAGAGAATGAACACACAGAATGGGGGTGAAGATGGGCTTTGGAAGCAGCAGAAGCCCATGAAACGGTACTTGGAACTGGGTTTGTCTGGCCGTGTGGGAGACAAAGGTCATCAGGCACAACCTTGCATCTCAGAAGGGGTCAAGAACCCATTGTTTTGGGTTTTTAAAAGCCTCCAATGAGACTCCACAGCAGACATGGTTTCTCAGCTTTAGAAATCGCCTCTGAGGTAGACTGTAAGGAAACTGACTCCATATGGGATTGACTATATTTTTTGCTGCACAGAAATATCCTCCAGTGCCCACTGGCAAGGAGAAAGCCCCACAGGATTTAAGGAGTAACAGTACCCACACATCGAGTCACGTGTCAGACGCTGTCCTGAGCGTTCTGTCTTCACACACCCTATGGGGTCGGGGCTGTCTTAGTCCGTTTGATGGATGAGGAAACAGGCCCAGAGGATTGAAGGGATCAGCCTGTACTCACCCTGCCGGGATGGGGCAGAGTTGGGGTGTGACACCCTGTGGCATTCATGTCCTCCCTGAGGAGGTGGGGTGGGGATGCAATGCCAAGGTGGGTTCCCTGTGGGCCACTGGGCTCAGAAGCAGCCTCCCCCTAG
Seq C2 exon
GCTTCCACCTGAACAACCAGCTGACCCAGACCCTCACCAGCCGCTACCGGGATAGCCGTCTGCGTGTGGACTTCGAGCGGTTCGTGTCCTGTGTGGCCCACCTCACCTGCATCTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182472:ENST00000328867:18
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:
PF0003627=EF-hand_1=PD(86.2=92.6)
A:
NA
C2:
PF134991=EF-hand_7=PD(46.3=77.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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

  • Autistic and control brains
  • Pre-implantation embryo development