Special

HsaINT0027403 @ hg38

Intron Retention

Gene
ENSG00000162949 | CAPN13
Description
calpain 13 [Source:HGNC Symbol;Acc:HGNC:16663]
Coordinates
chr2:30777567-30787357:-
Coord C1 exon
chr2:30787128-30787357
Coord A exon
chr2:30777640-30787127
Coord C2 exon
chr2:30777567-30777639
Length
9488 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TTTCTCCCTCTTTCCTAAAGGAT
3' ss Score
9.9
Exon sequences
Seq C1 exon
GAAAGGACCTCGGAAGTCTTCTAAGGAGAGTCATGGCGTATTACCAGGAGCCTTCAGTGGAGACCTCCATCATCAAGTTCAAAGACCAGGACTTTACCACCTTGCGGGATCACTGCCTGAGCATGGGCCGGACGTTTAAGGATGAGACATTCCCTGCAGCAGATTCTTCCATAGGCCAGAAGCTGCTCCAGGAAAAACGCCTCTCCAATGTGATATGGAAGCGGCCACAG
Seq A exon
GTGAGTGAGCCCCACACGAGCATACCCAGCTCCAGGGTCCTCGGAGTCGCCTGCCATGGCACCTCCAGCCAAAAGGAGGTGGAGCCAAACCAAACTGGAAGGAGAATGAAATTCACCAGGTATCTCTGCTACAGTGTTGTAGCTACTCAGCAGGATGGGAAGATGCTATAGCAGGAACCAGGAGCCCAGACTCCTGAGTTCTAACCCAGTTCTAACACTAAGTACACCACTAAATTAAAATACCTCAGTTTTTCATCCAAAAAATGGGAAACCACGGGTATGAAGATTGTAGTTGTTGCTCTTTGGAGTCTCCTCCACCCCATAATTGACCCCATCTATCACTCTGTCACCCTTTCTTCTCTTCAGGTGTCAGTATCTTTATATTCTTTTTTCCTTCCCTGTTAGAATTTGCTCAAAGGGAAGATAGCAGGTCAGTCATTTACACTATAGGATGAATTTAAATAATCACCTCTCCTCTCTGCTTTATATTCCCATTCTCGATCTTAGAGAGGCTCGACCACCTGTAAGAGAATTTTAGACATTAACTTTAAAATTAGGGAGAAATTGCAGGACAACATTCAGACCTCCCTGACTCCACAACCCCAGCAGATGGCCACTACCTCTACCTTGCAGCCAGGTGAGCCCTTCTGGTTTTTCTAGAACTATCTTAATTTTAGGGCATGACAAGTCCACGGAAAATATCTCAGCTGACTCAACATTCTGATAATCTCATCAGGACTACTGTTGATGCAAAGCACCCGGATAAGGACCACCCTAAGGACCCTTTTGCCCAAACCTCTATTCACACTTCTGTAGGCACCAGCATAACCTAGAATGAGATAAAATAATAGAATGTCTAGTAAGCTAATCATTATAATATCTGCAACCATTATTGAGCACTGATTAAATGCCAAGCACTGTCTAAACACTTCCCATAAAGTGAAGGTAGGTTACAGAGTAAAGTTATTTTCTATTGGTGACTACTAAGAGGCTATGAGGTCCTCTAAAGTATTTGTCTGGTCTGTGGATATCTAATTCAGTTCTGCACATGGGAAGGAGAACTGAAGACATCAGGCTCTGGGAGGCGACACACCTCTTGCCCTACGTTGGGGCAGATTTGAAGCTTTGGTGAAGGGAAGGGTTAGGGATCAGGTAGGGTTTGGGATGCTGCTTAGAGAAAAGTGGGGTGTTTCAGCATTCTAGGGTCCTCTTATCAGCCATTGGCAGTAAGTCCTCAACAATGATTCTCTTCTTCTAGCCTTTACCTCCTAAGGAGAGCTGAAGCAGAGAATTCTATTTAAAGAAGTTCCAAAAGGTCATTTTTTTCCCTTTGCTATTTTCAGAGGCTGAGATTATTTCAGAAAGTGGTGGGATTTTTTTCTCACAAGGTGCTGAGCAATAGATGTAAGACCATATTTATAGTGTTGAAGAATTTATAACACTTCTCTTTAGAAAGGATTGAGAGATTCTAATTATCTGAATCTCACAACAACTCAACTTGTGATGTCTTTTGGGGGCAAGGAGAAACTGAGGCCAACAGAAGTGAAATTACTTATAAAGAATAATGCCAGGAACCCAAAATAGAGGCAGCCAGGGGCCGAATCTGCTTTTCCCATTACTACTCTCCTCATCCAAAAGCTTACCTGAGCTCTACTGGGGGGACTGGGGACAGGGGTATTTTTCATTCTGGCACTTCTTTTTAGATGTCATATTTCTTTGTCTTTCTTATCACAGTTGACAAGACTTACCTTTGTGTAGTACTTTCCAGAGCTTTCCATGTGTCTTCTCATACTTTATCTGCTTTGTTTTCTCCTAACTTTATAGAAAACTGATGTTCAGACAGGTAATATGATATGCCAAGGTGACATGATTAGAGAGGGAAGGATCCAGAATTTAAATGAAGATTCTTTCCACCTGCTGCACTTTCCCCCCACTGACTTAAGTGCCTAGCAGGGACTCTGCTGGAATTTGGATGAACAAGTACATGAGTGAATGGATGAATGAAGGACCCTATCTACATGTGCCTGATGCATGTTTCAAGTTCACACGTGCAAGAAAGAAACTCTGAGTTGACGTATTTTCCAAGTAGGACAGTAAAGGAAAAAGCCAATGTACTCACCCCTTCGACACTGTGATGTCCTTGACCCACAGTGTACAGCTGTGACTGCAGAGAGCACTGGAAGAGGAGCCACACCAGCCTGGCCCAATCCTAGTAGTAATGGCCACACCCACAGAGTGTTGACCACATGGCAGGCCTGGCTTTAGGAGCTTTGACTCATCAATCTTCACAGTAACTCTATGATAAGGTACTGTTGTGAGCCTCATTTTGCAGCTGAGAAGCAGAATCAGAGAGTAGGGGGACCTCTGCCCAAAGTCATATAGTTAGATGATACTAGAGCTGGAATTTGAACCCAGGAGTCTGGTTCCAAGACCTGAGCTCCTAACACCATGTTACATGACCCTTGTAAGGCCTCATCATAAGCTTATGTCCTATTCTGGGCTCCTGCCTGTCACTAGTAATGTTTTTTGCACTAGTAGAATCTTCTACCTCATGTGAGTAAAACAGGAATCAATCCCTCTCTAAAGTTGATCTATGTTCTGCCCTTTTTTCCCTTTTTAGGGATAAAAATGGCACCTGTACCACATATGATTACTTTAAGTACTAAATGAGTACAATACTTAGAATAGTGTCTAGCACAGTCTAAACACTAAGTAAACACTAGTTTTTGTTACTGTGATTAATTTGGGAAAAGTCATAAGGTAGCAGCCTCAGGGCCTATTCCCTGGGATTCTTGGGTTTTCACAGTCCAGCCATCTCAGCTTCAGTCCTTGGCCAGTTTAAGAAAACTCTTTCAGGGAAAAATGTGGGTCAGGGGCTGAAAGAAGGTTGGCAGGGAGTGTAGAAAATGCCTTTCTTCTCATGTTCTGCTTTTTTTTTTCTTTTTTTTGAGATGGAGTCTTGTTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCCGGGATTACAGGCATGAGCCACCATGCCTGGCTAATTTTTGTACTTTAGTAGAGATGGGGTTTTACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGACACCACACCCAGCCTCATGTTCTGCTTTCTATCACTATTTTTAGAAAGTTGACTGCCAAGCTATAGCTTGCTGAGTGCCTGTCCAGAGGTCTGACCAGTGGCCCTTAAACTTCAACTATATAATGGCTGAGGTAGCACCAAGGTGTTTTAGGCCATCTCCACATTCTAAGTTTTTCCTGACAATGAGAAAGCTCCTCCTGTAGGCAACTGGTAAACCACAAGGGACATCATTCTGTTTTGAGTATTCATCCCAGCTTGGCAGGTTCAACACTAGCCCAGAAGTCAGGGGCATGAGAACCAGGCTTAGCTTTCTATGCCTGGTGCAGAAAAGTTTTGTGTCATATATCTTTCCTTCTTTCTCCTCCCTGCCATCTTACCTACCCTTTCCTTCCTCTGGCTCTTATCCTTCCTTCCTCTAACAATTAATCCAATAATCTAAACCATTTTGCTGCTGAAACTTTTTCTGAAGTAGAAGGAAGCCCCGTTCACATCCTGCTTTATTCTGTTCCCAAGCCCTCCCCCTCCCCCAGCCAGGCTCCGCAGTAGCCCATGATGGTGCCCTGTGCAAATGGCACTGAGAGGACCCGACTCCTCATCAGCCTCAATGCTTCCTACAACCCTGGTCTCAGCAAGGGACAGTGCTAAAGATTATACTTACATGTGAGGTATCTATGTGATATTTCCCTGAGCTAAATTTAGTACTTAGAGTGGACCCCTTTTAGGAGAATTTTTATTTCATGGATAGTTTATCAAGCATGCACACGAGTGAAGTATTATGCTAAGCACTTTACATGCAATATTTCATTTAACTACCCTCACAGTCCTGTGAGGTAGATAATACTATCATCCTCATTAAATAGATCAGCACCATCCAATAGAACATTCTGTGATGATGGAAATGTTCTTCTCGCACTGTTCAATACAGTAGCCACTAGTCCCGTGTGGCTATTGAGCACTTGAAATGTGACTGATGCAACTGAGGGATTAAAGGTTTAACTTTTATTGAATTTAAATTAATTTAAATGTAAGTATCCACATATGGCTTGTGGCTACCATATTGGACAGTACACGATGGTAGACAGTAGAGCTTCACAACAATCACCAGTGTTGTCAGATAAACTGAAATTTCATCTTTGTACCCATTTTATAGTAAAAGACGTTTTACTTCTCAACTGAAAAATGGGCTGTGTGCCCCAAGCACGTTGCTTAACAGGTGTTCGAAGCTCAGCACAGCCCCGTTGTGGCTTCCCGCCTGTGGCCATCCTAGAGGGAGGCACTGCCTATCCCAGTGACATCTTCCTTCCACACAGCCAGAGCAGTTTCTGAAAGGATCATTCACTAGAAACGACTCACCTTGCGACCAAAACGTGCTCTTCAGGAAAGGAAGAGGTTAACAAGGTAAAGTTGTAAGTGCAGGTTAGGTTATGAAAATGTTCCATAAGGCAATAGGTAACAAAAAATGGCAGAAAGTGACCCTGCAAACAGCCAAGTGTCATTCAGCCAGAGAACTTTGATGCCAATAAATCTAAGTCCTCTAGCAAAAATAGAAAAGGGAGTGACGCTGACACCTGTCCCAGACTGAACTCTGGCCACCATGTGAAAAGGCCGAATACTAAGATGCTAAACACAGGGCTCTCTTATCCAAGAGCGGCATGCCGTGTGAGGATGTGGAAGTCTTTAGAGAGAATGCAGAAATATGAAGAGTGCTGTCACATGGAAGACATTATTTCTTGGCATATTTCTCCGTCTACCTCTGGAGACGATTAGGGTAGAGCAGCTGGCTTGAGATCACATCAGAGAGCGTATTTTCTAAGATGCCAGGAGCCCTTGCATTACAAGAGCTCTGACATACCTAATATAACACAGATTACCCCCCAGCTTTGCCTGGAGAAAGGTCTCCACAATCCAGAATTAAGTTCCTAAGATTACTTAGCTTGACTATTGCTGTTGGCTTCTGTATTACTCAGGGTTCTCCAGAGAAAAAGAATCATTAATATATACCCTGTTGACATATTTATTGCTAGTAAATATATCAATATATCTTATATAAATATATCCTAGTATATATCTCATTAACATATTGATGTATATCCTAATAGATATCCTATTGATATATTTATGATGAGAGATTTACTAGGAGGGATTGGCTCACATGCTTATAGAGGATGAGAAGTCCCACAATATGCCACCTGCAATCTGGAGACCCAGGAAAGCCAGTGATGTAGTTAAATCTGAGTGGGAGGCCAGAGAACCAGAGAATGGATGATGTAATTCCCTGTCCAAGGACAGGAAAAGACCAGTGTCTCAGCTCAAGGAGTCAGGCAGAGAAAGGGCAAATTTTCCGTTTATCTTTTTTTCTGTTTAGGCCCTGAATAGACTGGATGGTGCCCACCCACCCTGGGAAGGGAATCTGCTTTGCTAAATCCCCCAACTCAAATGTTAAAGTCATGTGGAAGCACCCTCATGGACATGCCCAGAAGTAATGTTTAGCCAAGTATCTGGGCGCTCCGTGATGCAGTTAGGATGGTATATAAAATTAACCCTCCCAACTTCCTTCTGCACTAATAATGTTTCAGAGCCCTCAAAGGCCAAGTCCATCTCACAGGATCTGAAAACATAAAGTTGAGAAGATGCTGCCTGCTGGTGTGGTCAGAGTGAAGAACAAGACACTATGGAGGCAGACACCTGATTCAGAGCCTGTTTCTTGTGTGACCTGGAACAAATCGGTCAACTTCTCTGAAGCTGCTCCTTGGCCCTGGCTGGGTCTCAGAATCCCCTGAGAAGCTATGTGAATCTTGAACGCTATCTCTGAATGACCTGTGAAATCAAAGTAGTGGGAAGTGGGACACAGCAGTCTCCCTGTCTGTGAAGCTGCTGGGTGATTCACAGTCGGCTGGAGACTGCCCATTGCTGGCAGTTCAGCCTGAATCTAATCCAGGTTCTCATCACACTGGCTTCACTGCCCTCATGTGCCTGACCCATCTGGTAACAGGTGGCCTTCCCAGAGTCAGCACATTCACATTTTCCCAGCCATCTTTACCTGTTTCCTTAATGGGCCTCATCTCAGGAAGTCAGCCTGGCAGACTAAAACGCTCCTGGGTATCATTTCCATCCCTTCCTACCATCTCTCTTTTTCGATTATTGGTCACAGCTCTAAAGTCCAGAGTCCGGAAGGAACAAGCAGCTTAGAGGACAGGAGACATAGAAGCTGCTTTTGTGCCCACCTTTGATGAAAATGACTCCTATGTTTTCCCATAAACTTGAAGTTGACTATTGATTTGTGGTTTGAAATCATCACCATTGAATTTTCATCACATTAAAATATCTTTTTGTTCCTAATTAGCTAAAATTTTTGTTTTTAACTTTTATTGTTCTAGTAAATCATGAAAAGTTGTTGTATGTTTATCAAATGCCTTCATAGAATTTATTGAAAGGATACAAATTTTTCTCCCTTTGGCCCATGTAAGTGCTACTTCATATTATTAGATGTCTGATGTGAAACTATCCTTGCATTCTGCATTTCTACAGCAAATACTATACGATGATAACAAATTATCCAAAATAAGTCTGGTATGTCTGTGTGTTTTCTCTCAGGTTGGGCATCAAGGCTATGCTGGCTTCTTAAATGGTGGCAGGATTCTTTTTTAATTTTTATTTTTACACTGAAACTGTCAATGACACTGGAATTGTCTATTCTCTGAAAGTTTGAGGGAACTCAGAGGAAAAACTGCATGTACCTGTAAGCCTTTACAGCGCATGCGGGTGATACTCTTTGGTAACTTTAAAATACTATTCCAAGGCTGTTAGTCTTTTCAGCTTATTTACTAACATGAGTCAATGTTAGCCAAGTTAATTTTTGTCAAAAAATCATCAGATTTTTTAATTGATTGGCATAGAATTCTACATCATGATTTTATATTTCTAAAATGCAATTTTTAATTCTACTTTTATTTGGGTTTCTCTACCATATTTGCCAAAGGTTGGGTCTATGTAACCCTCCCTCAAATATTAGGTTGGTGCAAAAGTAATTGTGGTTTTTGCCATTGAAAGTAATGGCAAAAACCATTATTGGCCATTACTTTCAATGGCAAATAATAGAACAATTTATTTATTAATCTTGCTGTTTTTCTGGTATATAATTCACTAATTGTTCTTTTCAGTTCTTCCTCCTATTTTTGAGGCTCTTTTTGTCTTTTTCTTTCTAAGATCTATGAATTGACTGCTAAATTCATGTTTTTATTCTATCTTGTTTAATAATGAATGCATCTGAGGCTATGGGTTTGTCTGAGTATAGCCTTTTTAATTTTGCAAATATTTCAAAAGAGGGGGATCAATATTTGTTGAACATGTACTATGTCAGACACTGCGCTAAGTATTTCACATCCTTCCTCATTTGTAAATGTAAGGACTGGTCCAGCTTTACAAGGCTGTTGGGAGCCTACCAGAGAGAACCCAAGGTACCCGCCCTCAGCAAGGGTTTGATGAATGACAGCCATTGCCTTGATTGCATCGTCATTAGATTCTCTCAACTGTCTTTACATTTTGTATTATTGTTCCATTTTACACATGAGGAAACTGAGGCACAGCAAAGTAACGGGAATTGTTCAAGGTCTCAAGGTCACCCAGGGAGAAATATTAGAGTAGGATTGCACAACAGGTCTGTCTGAATGGGCTTTCCAAGCACACCTTCTCCTGCCCTGGGGATCCCTGGAGGGGAGCTAGCAGGACCACAGTGAAGAAGAGCTGTGGCCAAGGTCAAGAAAATGGAGCAAAGCCATTTTTGTTCCTGGTCTGAAAATGCCACAGCCTCCATCTCTTCTTTACTTCTCACGAGTGGAGGATCTTTGACAGCAGGCCTCCTTTGAGACCCTAAGTCCCCTTTTCCAGTAGAGAGAGGAGACAAGTAAAGGCTACTGAAATGCCCTACACCATTTTAAAACTGGCTCTACTTGGAGCTCTGCATGCAGCCGAAGGCCCTCCGGATGTCCTTCCCTCTTTCTTGCATTGGAGGAAATGCCAAAGTTCTGCCCACGATGGCTCTGGCAGAGGGTCGGACCTGGTGCCACCCCAGGGTCCCCCTCACCCGGGAGGGCCTGGGCCTGAGAGTTCCCCTCCCGGCATGTGACGGGGTCAGTTAGTTGTAGAGAAAGCAGCGGGAGGAGTTTGGTAAAATCATCCCCGCAGCCAGGACCCTGTGTTTGCAGGCGGGCACACCTTCGTTTTCCCCTTAGTGTGCATCTCTTCCAGGAAACCTGGGCAGTTTATGAAGAGCTGGCAGGTTCTACAAGGCACATGACTCTGTACATGAATGGCTACTGAGCAAATGAATCCAATTCCAGTTTGCGGGCCTGCTCTCTGCAGACTTATTGGTCAATGTGAAAAGAAATGATATAAGGACCAATTACCAAATTATGCAAATCCAGGAAGAGCTGCACAGAGAGGAGGCCGAGGTCATCCTGGCCAAGTCTAGAGGGCTGGCTGGTGCTGGGGCAGAAGCCAGACCTGTGGCCTGGTGTTCTCCCAAAGTGCCTGGGGATCCCCTTTAGGAACTCTCACAATTTTGGTGCCTGCTGACAGTTCTTCATATTCTTCCCAGATGTGGCAGCACTGGTGGAATCCTCCATAACCACTGTCTCTGGCTGGCAGGCACTATGTGTGTTAGAAGTTAAGGAAGGACCGGGCACTGAGTACCAGCTCCTCACACAAGGGGACTGCGGCCTTCCAGACCCGGTCTGTGAGTTACCCAGGGAGTGGGCAAAGAGCTGAGTCATGTGTACCTTGTATCCCTTACAGCACACGGCTAGACTTAAACCTGTAGTCCAAAATACCTATGCTAATTTCTGAGATATACCATTTCACAACAAAAGCTTTATTATGAAAGTTATAGTACTTTATTATGTTTATAAACCTCTCCTCTAATAAATGTATTCTATTCATTTTTGATGGTTTATTTACAACCTCTTAATAAAACACTGCCTTGTCGAGATGGAATGGCTATTTGATCCAAGGACTCCAAGTCCTTATTTATGTTATCTCTCCATGTAGTATGCTAATGCATTTATGGCCTGTCTTGTCAGTTACATTTACACTCCGTGACACCTGCTGCCTTCCTGGTAGCAATAAAGGCTGAAGAACGTGGTGAACTTTCCTAACTCGGATTTTAAGCACCTATTTAAGAATTAACCTCGACCCTTGAAAGACAAAGTGAATGATGTCGCTTTGGGATACAAAGGAATAAACGATGTTCATAGCTTTTCTCCCTCTTTCCTAAAG
Seq C2 exon
GATCTACCAGGGGGTCCTCCTCACTTCATCCTGGATGATATAAGCAGATTTGACATCCAACAAGGAGGCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162949:ENST00000295055:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.004 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0064816=Peptidase_C2=PU(10.7=48.5)
A:
NA
C2:
PF0064816=Peptidase_C2=FE(10.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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