Special

HsaINT1007169 @ hg38

Intron Retention

Gene
Description
chymotrypsin like elastase family member 1 [Source:HGNC Symbol;Acc:HGNC:3308]
Coordinates
chr12:51329684-51340005:-
Coord C1 exon
chr12:51339860-51340005
Coord A exon
chr12:51329834-51339859
Coord C2 exon
chr12:51329684-51329833
Length
10026 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAC
5' ss Score
5.56
3' ss Seq
TCTGTTTCTCCTCCCTGCAGGGT
3' ss Score
13.31
Exon sequences
Seq C1 exon
CCAATGGGCAGCTGGCCCAGACCCTGCAGCAGGCTTACCTGCCCTCTGTGGACTACGCCATCTGCTCCAGCTCCTCCTACTGGGGCTCCACTGTGAAGAACACCATGGTGTGTGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAG
Seq A exon
GTGAACATTTGCAGGGGGTCCCACCCCAGGTCCCGCCACTCTCTGCCTATCCCTCCACCCCTCTTCCTCACCTCCCTATTCGACACTTACTCTTAGTCCTACACAGACTCAATTTTCTACTCTGGCGTCTAAGTGAGAATGATCCTGTGCTGGTAATTCTACACATGCAGAAACTCAAAGTTGAAAGGAACCTTAAAATTGATCTTGCTCGATGCCCTCACTTCAAAGTTTGTACGTGGCCCAACATTTATATGTTGTTGTTGGTATATGTGTGTGTTCTTAGAATTTGTTACCTAGATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGACTGGAGTGCAATGGGACGATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGCTCAGGCTGATCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCATGCCCAGCCAAATTTGTTACCTAGATTTTTTAATGGCAGCGATGCAGCTGAGCCTGGACAGGTGGTTGTGATGCTGTATAAGCAGTACCCTGCTCCCTCTTACCTATCAGTCCTACTTCTCTTGCAGTTCCTCTACCACCATCCCTTTACCCCAGTGATATTTCTGGCAGTATGTACAGGTGAGTTTGATAGGGGAAAGTGCACAAAATAATTTTATAATAGCTTATATATAACAAATATAACCTTCCTCTATTTTGACAAGATCAATCAGCCATAAACTATCTTACAGATTTCTCTTTTTAAGCTTTTTTTATTATTATTATTTTAATATAGAGATGGGGTCTTGCTTTGTGGCCCAGGCTGGTCTCAGACTCCAGGGCTCAAGTGATCCTCCCACATTGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCATGCCCCACCCCAGATTTCTTAATGCAGTTTAACAACTATTCATTATATATCTACTATATGCCAGGCATTGTGCTAAGTGCTAAGGTTACAAAGATGGATCAAACAGTGTCAAGTAAAGAAACCAGAGGCACAGACATACAATAGAACATTGTAATACAATGTGGTTAAGTGTTAATAATCAGGATGTGCACAGGTGATATGGAAGCCCAAGGGTAGGTACCTACCTCTACCTACTGGGGCCAGAAAAGACTTTCCTTCCCCAAGAAACTAGAATTTGTAGTGGGTCCTGAGGGGCAAATAGGAATAGGCCAGGCAAAAAGGAGAAAAGACATTCAGAGGGAGGGAACGGCATGAATAAAGGCAGGGGGCCAAGAAACAACCTAGAGTACATACAGAATTATGGGGCATTCCCTAAGGCTAGAGTAGAGCAGCGGCTGGAGGTCCACAAGCCGAATCTAGCTCACTGCTTGTTTTATATGGCCCATGAGCTTAGAACAGTTATTACATTTTGATTTCTATATATATATATATATATGTATGCGTATGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTTTTTTTTTTCCTGAGATGGAGTCTCACTCTGTCGCCCAGACTGGAGTGCAGTGGCGCAATCTCAGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACATCTGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTTGCAAGGCTGGTCTCGAACTGGCTGGTCTCGGACTCCTGACCTCGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCATATACATATATATATATATTTGTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTTGTACCATCATGGTTCACTTGTAACCTCTGCCTCCCAGGCTCAAGTGATTTTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACATACCACCATACCCAGCTAATTTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGAATTATTACATTTATTAATGGTAAGGAAAAAAAATCAGAATAATAATATGTCATGACACATGAAGAATATATAAAATTTCAGTGCCCATAAATAACATTTCACTGGAACACAGTCACAGTTGCTCATTTACAAACTGTTTATGGCTGCTTTTTTTTTTTTTTTTTTTTTTTGAAGAGATAAGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGGATCACAGGCACATGCCATCACACCCAGCTAATTTTGTTTTGTTTTTGGTAGTGACAAGGTTTCACTATGATGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCGTGAGGCACCATGCCCAGCCTATGGCTGCTTTTGTAGTACAACACAAAGTAGTTGCAATCAAGACGGTATGGCCTGCAAAGCCTGAAATATGTACTGTTTGGCCCTTAACAGAAGAGGTTTGCTGACCCGTGGGCTAGAATAGAAGCTACCACCATACTAGGAAATGTCAGGAGGTAAGACTAGAGAGGCAAGCAAGAGCTGTACAACTCAGGGCTTCAAATGCCAGGCTTGGGGACATGAACCTTATCTCTTGGGCATTGGGAAGCCATCAAAGACTTCTAAACAGGAGACTAGCACAACCAGATTCACCTTTTAGAATTGTTCTTTAGGCATGTTTTTGAAGAAGACAAGAGAGGCAGGGAGATTGCCTAGAGGGCTATTGCAATGATCTAAGCAAGAAATTTGAGGGCCTGAATTAAGGCAGTGGTGATAGGAACCGGAGGAGGGAAGGAGGAGGATCTGGAACAACAGCCAAGCATCTGGTTTAAGTGATTTGGGGGAGGGCACTGTTGCCCTGAGACAAGATTTACAGAGTTTGAGAGAGAAGATGATGAGTTTGGTTCTGGACAACCTTTGTCTGAGATCCCAGTGGGACATTCAGGTATAGCAACCAGTAAGAAATTTGGTGTTTTTTTTGTTTTGTTTGAGACGGAGTCTCCCTCTCTCACCCAGGCTGGAGTGCAGTAGCGCGATCTCAGCTCACTGCCCCCTCTGTCTCACGGGCTCAAGTGATTCTACTACCTCAGGTTCCTAAGTAGCCGGGATTACAGGCATGTGCCACAACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTAAGTCTCGAACTCCTGACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAAGAAATTAGATAGAAAAAGTGGGGCCTGGGGGAAGAGCTGGGCTAGAGATACCTACTGAGAACAAATCAGATCCCATTCCAGGGAAAAACTGTTCAATGAGAAAAGAGCAGTGGGTTGGGAAAGAACTGTCAGAACATAAATACTTGAGTGTTTCAGGGATAAGTGGAGGATAAAGAAACCACTAGGATCTAAGAAAGGAGAAGTAGATGTAAGATAAAAACCTGGTAATAAGGATATTATGAAATCTCAGGAAGTACTTACAGATATCACATAATATACAATTCACCCAGAAGCCACAGTAGGTAAGAGCTGAAAGTGGCCACTTTGGCAATTGTAACCTTGGCAAGAGCAGTTTCAGTGGAGTGGTGAGGGCAGAAGCTTGTCCGAAGGGTAAGAAATAAAGAGGCAATAAGACATATAACCAGCCGGGTGTAGTAGCTCATGCCTGTAATCCCAAGATTTTGGCAGATTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTAGAGACCAGCCTGGGAAATGTAGGGAGACTTCATCTCTATGAAAATTTTAAAAATTAGCTGGATGTGGTGGCGTGCACCTGTAACCCCAGCTACTTGGAAGGCTGAGGTGGGAAGATCACTTGAGCCAAGGAGTTCGAGGCTGCAGTGAGCTATGATCGCACCACGGCACTCCGGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAGAGGACAAAAAAAAAAAAAAAGGAAGAACAAAAAAAGTCTGGTAGCTTTAAGGACAGCAAGTCATGGAGGGAGTGGATCTTCTAAGAGAAGAAAATTGGCCGGGCGCGGTGGCTCCCGCCTGTAATATCAGTGCTTTGGGAGGCTATGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACACCATCTACTAAAAATACAAAAAAGTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTCGAACCTAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAGAGAAAAGAAAATTGAGTGCATAAATAGGCAGAGAGGAAAGAATCCTGTAGAGTCAGACAGAGGTAATAATAATAATGGATGGCACAAGATCCCACAGAAGAAAGAGATGGAACTAAGAGCACAGGTGGAGCTGGCTCTGAACAGGAAGAGGGATACCAGATGTGCACACAGACATAGAAAAGTTTGCTGGATTTGGTAGCCGAACGTTGGCAGGTGTTCTACATTATTGCTTCTAGTTACTCATGAACTAGGAGGAGTCAACTTGACTGCTGAAAATGAAGGGGAAAGGGTTGTATGGGTCTGGACTAGTTAGTGTGAATGGGAGGACAGTCCTCCAAGATGTTGCTGACTGGCTGTTTGGAGACCAGACTACGACCACATGGATATATGATTCACTCTGTTTTACTCAAAGACGGTTTCCTGCATGATTGGGGTAAAAGGACAGGATTGCAGATCAACTGCAAGGTCCAAACTAGATGGAGGAGAGAGAGAAGCTGGCAGGCTGGCTGAAACTATAAAAAATGAAAGGATTAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATGGTGTGAACCGGGGAGGTGGAGCTTGCAGTGAGCTGAAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAGAAAAAAAAAAGGATTAAAAAGTTTTTTGTGTGTATGAGTACAAAGAACCATGGAAATAAAGTAGCCAATTCATCCTAGTTTGCCCTAGACTTTCCTGGTATTAACATTTAAAAGTCCTGTATCCCAGGGACTCTACATGGGAATAAGGGGGAAAATAGACTAATGCATAATGCAACCTCTTCTAGGCCTTCATCAGCCAGCTTCACCTATAACCTCCTAAGGTTTAACCTTTCTGAGTGAATACACATGCCTGTGCTCTCCCATAAGCCCTGAGCTCTAAAAAAACGAGTACTTTTCTTCTGGCTGCCACTCCAAATTGACAGTTCTCAGAGGCAATTGTGTCCCCAGGTCCCTCCCCACTGGAGTTTCTCAAATAGTGTGTCTTCTGGGCTTTCACAGTTCTGGGTCTCCAACCCTTCTCCTCAGAATGGATTCACTTAGAACCTCCCATTTCAATCAACCCATCCCCACTGATTTCTTTTCCAACTCTTCCTTCTGCTCTAAAATCCTCAGCCACACCCTCCCTCTCTCCTGAGGCTTGGTCTCTTTTCGGGTCAATTAGCACAAGACAATAGTATTATATACAATTCATTTATCTATCATTCCTCTAGCCCCTGAAATACTCTCAAATCCCTGATAGAATTTTGGTGGAAGAGATTGTTTTGTTTTGAGTACAATAATCTAAAGAAAACATCGTTTCCTAAATAGCAGTTAGGGTGGAGTACAGGTAGTTCCACTTTAAAGTAATTACCCTTGACTGGGCGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTAAACTCAGGAGTTAGAGATTAGCCTCAGCAACATAGGGAGACCCTGTCTCTGCAAAAATTTAAAAAATTAGCCGGGCGAGGTGGCGCACACTGTGGTCCCAGCTACTTGGAATACTGAAGTGGGAGGACTGCTTGAGCCCAGGAGATTGGGACTGTGGTGAGCTATGATCATACCACTGCACTCCAGCCTGGGCAGAGGCTCTGTCTTAAAAAAAAAAAAACAAAAAAAAAACAGTCGGGCTCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCACAGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATGCAAAATTAGCCAGGTGTGGTGGTTTATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTAGGAGGCGGAAGTGGCAGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAATTAACGGGGAGTGGGGCTACACATCTATACTCCCAGCTACTCAGGCGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGTGGTTGCAGTGAGCCGAAATGGCACTACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAACAAACACACACAGAATTATCCCAGTTTGAAATTTTGGTCTCTTTCCCTAGTTTTTTTTAAGTTTTACTTTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACGGTAGCGTGATCTCAGCTCACTGCAACCTCCTCCTCCTGGGTTCTTGTGCCTCAGCCTCCTCAGTAGCTGGGATGACAGGCATGAGCCACCATACCTGGCTAATTTTTTTTGTATTTTTAGTAGAGTCGGGGTTTCGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGGCGTCACGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACACCTGGCCCCAAGTTTTACTTTTTATTGAAGCTTAAATTGGCAAATAAGATTATGGGGCTCAATAATGGAAAAGAATAGCTACTCTAGTTCTCCCACCCCATGGGAGGCCACTTTCAACTCTTCAGCTGATTCTTTTGGTGTCTACATCTTTAAAATTATATACTTACACTGCTATTTTTGTGTTGACATTATGGCAGATGTGATTCTCTTTATTTTTTATATATACATACCTGCCCTCCAAGCATGACATTTTCTGATCACCATCTCAACCTCTCAAAATATTTTGGTTAGATCAACATTCGGCATTTACTATGATTATATAAAATGCTATTTACAACAAAATCATGTAATATATTCTAGGTTTACTTTTCATTTGCTGCATAACTTTTTTTTTTTTTTTTTAAAGAGACAGGATCTTACTCTGTCACCCAGGCTGGAGTGCAGTAGCACAATCACAGCTCACTGCAGCCTTGAATTTCTGGGCTCAAGAAATCCTCCCACCTCAATCTCCTGAGTAGCCAGGACTACAGGCACATGCCACCACACTCAGCTGATTTTTTAAAATTTTAATAGAGATGGGGGTCTCGGTTTGTACCCCAGGCTGGTCTCAAACTCCTGGCTTTAGCTTAAGCAGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCATAAACCACCAAGGTCAGCCCTTGCTGCACAACTTTTTCAATTTTTTCAATGTCTGTTAAAAATTGTCTTTTTCATTTGCTTAATATAGTCAGTTTTTCATTAATTCAACCCCACACACTCCACTAATTTGTTAAGTGACCTATATCATCTTCTCTTGACCTAGTGGTCTATGTGGATCTATTTGCATTCGTTGTGAGGGATACTTAATGGGTGGGTTTTCCCGGAAACTCCAGACCTTTGATCCAGAAAATGTTGTTTATTTGTTGATTTCCTCCCACTCTATTTTCACTTTTCTCTTTCTAGAATTTCTGTTATTCACATGTTTGCCTCCTAAGCTGGTCCTCTTGTTTTCTCTATATCTTGTTTGTTCTATCTTATGTTCCAACTCTTCCAGTCTCTCATTTCTAAATCTATCAAATCTGTAATTTCCAAAGGCTCTTTTTGCTGTCTGAATGTTGTTTAGTAGTATGCCGTTCTTGTATCATGGATGCATATTAGTCATGTTTTTTGTTTGTGTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCTCAGCTCACTACAACCTCCAGCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTACCACCACGCCCGGCTAATTTTTGTATTTTTAATAGAGTTTTAGGGGTTTCACTGTGTTGGCCTAGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGGAGCCACCATGCCCAGCCTATTAGTTATGGTTTTATTGCTTGTTTTCTTCTCCCTGCATAGTCTTGGTTGCCTTCATTTTTTTATTTAGCTCCTTGTTTCTTTGTTTCAATCTTTATTTTTATATTAGATGAATTCCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGCCCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGGGCCCGGCTAGAGGCATTCTTTAGATGTTTAGTGATCCTTAACCATCTGCTTTTATTTCAGAGTGGGGGTGGTATTTTTACCCAGAGTGGGTGGGCTGATTGGTAGCTCTGAGCCTTAGATGGGGTTCATCAATAGTGGATTCTCTGTCAGGTGATCTGGCTAGGCCATTTTAGTGGAGGACCTCCAATGTCAGTATCTTTAGGTCTTTCCTCTTGGACTGTTCAGTTTTTCCAGAGAAGTATCTTCCCATTTTATGTGTGGCATTATGGACCTGGCATTCTAGAAGCTGAGTAAGAAGGGAGGCAAGATCATATTCCATAAACCCAGGTTCCCAGTTGAGCATGTGACCTAATACATCACTTTCCTCTTCATTCCAGTTTAGTTTAGCATGTTTTGACTACCAAGTCTAAATACTTGGTCTAATTATACCCATTGGTCTAAATGCTGGGGATAAAGAAATTATTAGAATGCCCTATTTTTGCCACCCCAGGTTCAATTTAAGCCAATAAAAGCGATTGAACTTTAGATATTTAAAGTTCTATGCTAGCATTGTGGAGAGGAAAGATCTTGGTAAGAGTTTTTGTCTCAGGAAGCTCATAGACATGTGTGAGGAGGTACAAACAAATTATGAAACCAAAATACAAGGCAGAACATGAAATAAGTGCAGCAAAAGAGAAGAAGTATTGTGGTTGTTTAGAAAGGAAGAAGAGATTCATTTTGATTGTGGGGACATGAAGGAGGTGGAGATTTGCATTGGAGCTTTAAAACCGTACAGAATTTCACAACCAGAGACGGGGGCGGGGGGAGTGCAAGCAAAAGCCCGAAGATCTGGAGTTTTAGGATTCTGTTTCTCCTCCCTGCAG
Seq C2 exon
GGTGACTCTGGGGGCCCCCTCCATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCTGCTTACATCTCCTGGATAAATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610:ENST00000293636:6
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:
PF0008921=Trypsin=FE(20.6=100)
A:
NA
C2:
PF0008921=Trypsin=PD(20.2=94.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
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