Special

HsaINT1011961 @ hg38

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56614356-56624628:-
Coord C1 exon
chr6:56624530-56624628
Coord A exon
chr6:56614485-56624529
Coord C2 exon
chr6:56614356-56614484
Length
10045 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATC
5' ss Score
7.05
3' ss Seq
TTACCGCTCACAACTGTCAGAAG
3' ss Score
2.56
Exon sequences
Seq C1 exon
TTCATGGACCTAAGGACTCGATATACTGCCCTGGTCACTCTCATGACACAATATATTAAATTTGCTGGTGATTCATTGAAGAGGCTGGAAGAGGAGGAG
Seq A exon
GTAATCATTAACAGTGAGCACCCTGTAAATATAAAGGAGCTAGAGATGAGCAGTAACTACAGTGTAGTTTGGGAAAGCAAAACATGTTTCATGATAAATTTATGTGGCCGGTAGCAGATGTACAAATAAATATTGAATTATAAAATTACAATGAAAATGACTGAAGGCCTAAGATTTTTGTTTGTCTTTAAGATTCATTCAAATAGAAAGTCATTTCACTTCATGACTTTACATTTTCACTTCAGGACTCTAATATGGTGGGGTTAATGTCTTAAATAAATTACGAAATTTTGGCAGTTTGGCAGAATATTTTTCGGCTTTCTCACAGCTGAGAGGTATACTTCTTTGAAGTATAGTTACTGCTGGTATGATGTCTACAGGAATACCACACGAACACATTTGTCTTATGCATTTTAAATTAATTTGTATCTCAAGAAGTTAAAATTATTATACATAATGTAAAGATGCTAACTTAGAAGTAGTAGACGTTTTTACAAAATGATACTTTTTAAGAATTTTGGAGTTTTTTGTTGTTTTTTTTTTGCAAAAAGATATAGCACATGGCATTTAAAAAGGCTATTTAAATGCCACTCTGATTTGGAGAACTTCTGCAGCTTTGATTCTGCATTTAAAAATCATATTTCTGCATTTATAAATCATATATTTAAAAATCATATAGGAAGAGTAAGGACTTATTTATAAAGATCAGTGGTCACCAAAGGCTCTTGTATGTAATCTAAAAGGGAGTATGCTATGCTTTGTTATCTTGATGTACTTTCTATTCCCCAGAACAGACAAAAATAGTAGAATGAATGTTGAAATAAATAAATTGTGGGCCATTAGCTATTTTAAATTGGACTGTTGTTGAAATTCTAAAGGTGATTATGCTTAATGTAACTCCATATGAGAGCTGAAACAGCAGTAAACATCTATTGGATGTTACTTTCTCAGTTTCCTAAAAATGTGACCACTTTTATAAACTGTTTTAGTCTGTTCAGAGTTAACAGTTTTCTGCAGCTAAATCACTAACATAGCTAATTGCAAGACTTTATAACCCTCTTCCTTTGTGCTTAGGAGAACCAGGATATTTGTGACCATCTTAAATGCATGCATCTCTCATCTATGAAAGAACATCCATAATTTTCTTATATTTTTAGTTTTTGAGAGATCTTATTCCATTTTAAATGGTATACAGATCTTTTAAATTGAATATGCAGTAGTTAAATATAAAATAAAATAACTTAAGTTCTTTTCTCATAGTATGTATCTGATTATACATATATGGGCCACTTACTCGATTTATCTGATGAGGCAGAATGCTAACAATTGATAGAAACAAAAAATATTTTAGAAGGCCTTAATTGAATGCAAGTTATTATTGTCCTTAAAAATGTCAAAGATTTGTAGTTAATTGAAACCAGCAAATACAGTTATGGAAGAACAAGCGAAGGCTATAATTTAAAATAGGTTAAAAAAAACTACCACTTAACATTACGTTAATGGAATGTCGTGTAAAAGATACATAGCTTAATTTTTAGACTCAAAAGATTGGTGTTTCTGCAACTGAGGTTTGAAGACCCACATGAAAAACCTTGGTCTAAAGCAGAATTTTCCATAATAAACATAAAATCAAAGATGGATGCAAGTTAATTTCAGAAGTAATACTGATTTAGTTAAAAGAAATGTTACTAAAATATCTGTAATAGATATTAGATATTAGAGAGAGATGCTTTAGTCTGTGCTGAGAACAAAATATGCTAAGTATTAATCACCGTGATTAAAGGGCAAGATTGAGGAAGATTTAGAGAAAAGTTAAGGAAGTTATTTTTATGCAAATAAGTTTGAGATCCACAAGAAAGCAAGTCAGCAATTGGACTAAATTATTTCTAGTAATTTTTCTCACATTTGCTAAAAAAGTCAAGAGACAACATGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCACTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGCCTGCCGCCTGCCACCACGCCGGGCTAATTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTTGGGTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGAGATTCTTAACAAATCACTGCATTGCCTAAGGCATTGAGGGTTCAACAACAGATATTTTTTTCTGAGGGAATTTTTAGTTTTTCTAAATCTGAGCATGAGAAATAGCTCAGAATTTCTTAGCAATAGCTAAGTTTTAAAGGAGGTTTGATAAGCAACTGAGACTGTCTTAGAAATAACCTCCTCAAGAAATACTGAAAACTTAGTATTTAAATAGATAAAATGCTCATGTGTCACAGGATTGACCCTGATACTAAAATAAAGAAAATAGAGTGCTGAAGATAACAGATTATGAGATTTGTTTCTGTATGAATTATTATTAGAAACCTTATTTAGGTTAGCAAAGAAAACAACTGAAATTCTCATCAAAATTATTGGAGATCAAGAAATTAGAGGAAGCAAAATAAGATGTATGGTCTGTAATAGAAATTAAATTCTTGAAATTCACCAAAGCTTCTCAATGAAAACAAATCTGTCTAAAATAATTTCTGTATTCCTGTTTAAATTATTTTATGGTGATCTTGAGTTGATGATACAAAACTAACACACTAGAATATTAATAAAGAGAAATTAAATTGTAATTATAAACTAATCCTGATCATGTAGTTCTATAATCAATGTAAAGCATACTCCTCCCAGCTGACATTGATTCTGTCCCTAGTAGAGTAAAAATTTTTTCTTATAATTTTTTCTATACATTGGAGCTGAATCCCTAAGTATATATTTAAAAGCTATTATACTTAACAAATATCTTTATATTTATGGAGTATTTAAAGGTGCTTGTCAAAGTGATTCATATGAGGCATGTTATTAACAACAGCAACAAAATCTGTGAGTATATGAAGCGCATCTTTTCCAGAGCCATCAGGACTGTAGCTGCCTTTGCATTAGCAATTCTGATTATTATAATTGTCATAATATGGCAAGTATAAACAAATAAGGGATCTGACTTTAGAAATTTCAAGTTTTTGTATAATTTTCCTTCTTCCCCATGTTATTTCCTAATTTGGCTCTCTGTTCTAAAGTTCTGTGCTTTGTTTTTTTAACCATAAGACATGGGAATATAAGTATCATTTTTAATTTCTATTAGGTTAGAAAACTAAATTCTTTAGCATCATTTGGTTCCTATGTGTTGGGTGTTCTTCCTACCTCTTAGGATTATGTTGCATGCAAGAGAAGAAAGGGCACCGTCGTGAGAGTTTTATTTCCCACTTTGTCACTCACCCAATGTGAGTTTGCAAAAATATCTGTCCTCCTCGTTTCTCCCTTTCCTCATCTGTTGTAAATTCCCTTCTTGCTATAAAATTCTAAGCTAGCTAATTTTTAAAATAAAATTATTCCTGAGGGGCAAAAAGATATTCTTCAGAAAACCTGTCGTGAAGGGTTTTTTGTCCTCTTCTGCTGACTTTCTGAGGCTTCCTCTCTGAAGAAGGTGATGCTGCTGGTGGTGGTGATAGCGCTTGTTCTGCATTTGAGTTCACTTGGTTTTGTAAGTACTTTTATGAACATTGATTCATACGTTGTAAGATATTTTGAACAGAACAGGCTTGACACTTTCAAAATGTCTTTTGTAGATTAAAAGGTGTAAGGAGACTTCTGAACATGGGGCATATTCAGATCTGCTTCAGCGTCAGAAGGCAACAGTGCTTGAGAATAGCAAACTTACAGGAAAGATAAGTGAGTTGGAAAGAATGGTAGCTGAACTAAAGAAACAAAAGTCCCGAGTAGAGGAAGAACTTCCGAAGGTCAGGGAGGCTGCAGAAAATGAATTGAGAAAGCAGCAGAGAAATGTAGAAGATATCTCTCTGCAGAAGATAAGGGCTGAAAGTGAAGCCAAGCAGTACCGCAGGGAACTTGAAACCATTGTGAGAGAGAAGGAAGCCGCTGAAAGAGAACTGGAGCGGGTGAGGCAGCTCACCATAGAGGCCGAGGCTAAAAGAGCTGCCGTGGAAGAGAACCTCCTGAATTTTCGCAATCAGTTGGAGGAAAACACCTTTACCAGACGAACACTGGAAGATCATCTTAAAAGAAAAGATTTAAGTCTCAATGATTTGGAGCAACAAAAAAATAAATTAATGGAAGAATTAAGAAGAAAGAGAGACAATGAGGAAGAACTCTTGAAGCTGATAAAGCAGATGGAAAAAGACCTTGCATTTCAGAAACAGGTAGCAGAGAAACAGTTGAAAGAAAAGCAGAAAATTGAATTGGAAGCAAGAAGAAAAATAACTGAAATTCAGTATACATGTAGAGAAAATGCATTGCCAGTGTGTCCGATCACACAGGCTACATCATGCAGGGCAGTAACGGGTCTCCAGCAAGAACATGACAAGCAGAAAGCAGAAGAACTCAAACAGCAGGTAGATGAACTAACAGCTGCCAATAGAAAGGCTGAACAAGACATGAGAGAGCTGACATATGAACTTAATGCCCTCCAGCTTGAAAAAACGTCATCTGAGGAAAAGGCTCGTTTGCTAAAAGATAAACTAGATGAAACAAATAATACACTCAGATGCCTTAAGTTGGAGCTGGAAAGGAAGGATCAGGCGGAGAAAGGGTATTCTCAACAACTCAGAGAGCTTGGTAGGCAATTGAATCAAACCACAGGTAAAGCTGAAGAAGCCATGCAAGAAGCTAGTGATCTCAAGAAAATAAAGCGCAATTATCAGTTAGAATTAGAATCTCTTAATCATGAAAAAGGGAAACTACAAAGAGAAGTAGACAGAATCACAAGGGCACATGCTGTAGCTGAGAAGAATATTCAGCATTTAAATTCACAAATTCATTCTTTTCGAGATGAGAAAGAATTAGAAAGACTACAAATCTGCCAGAGAAAATCAGATCATCTAAAAGAACAATTTGAGAAAAGCCATGAGCAGTTGCTTCAAAATATCAAAGCTGAAAAAGAAAATAATGATAAAATCCAAAGGCTCAATGAAGAATTGGAGAAAAGTAATGAGTGTGCAGAGATGCTAAAACAAAAAGTAGAGGAGCTTACTAGGCAGAATAATGAAACCAAATTAATGATGCAGAGAATTCAGGCAGAATCAGAGAATATAGTTTTAGAGAAACAAACTATCCAGCAAAGATGTGAAGCACTGAAAATTCAGGCAGATGGTTTTAAAGATCAGCTACGCAGCACAAATGAACACTTGCATAAACAGACAAAAACAGAGCAGGATTTTCAAAGAAAAATTAAATGCCTAGAAGAAGACCTGGCGAAAAGTCAAAATTTGGTAAGTGAATTTAAGCAAAAGTGTGACCAACAGAACATTATCATCCAGAATACCAAGAAAGAAGTTAGAAATCTGAATGCGGAACTGAATGCTTCCAAAGAAGAGAAGCGACGCGGGGAGCAGAAAGTTCAGCTACAACAAGCTCAGGTGCAAGAGTTAAATAACAGGTTGAAAAAAGTACAAGACGAATTACACTTAAAGACCATAGAGGAGCAGATGACCCACAGAAAGATGGTTCTGTTTCAGGAAGAATCTGGTAAATTCAAACAATCAGCAGAGGAGTTTCGGAAGAAGATGGAAAAATTAATGGAGTCCAAAGTCATCACTGAAAATGATATTTCAGGCATTAGGCTTGACTTTGTGTCTCTTCAACAAGAAAACTCTAGAGCCCAAGAAAATGCTAAGCTTTGTGAAACAAACATTAAAGAACTTGAAAGACAGCTTCAACAGTATCGTGAACAAATGCAGCAAGGGCAGCACATGGAAGCAAATCATTACCAAAAATGTCAGAAACTTGAGGATGAGCTGATAGCCCAGAAGCGTGAGGTTGAAAACCTGAAGCAAAAAATGGACCAACAGATCAAAGAGCATGAACATCAATTAGTTTTGCTCCAGTGTGAAATTCAAAAAAAGAGCACAGCCAAAGACTGTACCTTCAAACCAGATTTTGAGATGACAGTGAAGGAGTGCCAGCACTCTGGAGAGCTGTCCTCTAGAAACACTGGACACCTTCACCCAACACCCAGATCCCCTCTGTTGAGATGGACTCAAGAACCACAGCCATTGGAAGAGAAGTGGCAGCATCGGGTTGTTGAACAGATACCCAAAGAAGTCCAATTCCAGCCACCAGGGGCTCCACTCGAGAAAGAGAAAAGCCAGCAGTGTTACTCTGAGTACTTTTCTCAGACAAGCACCGAGTTACAGATAACTTTTGATGAGACAAACCCCATTACAAGACTGTCTGAAATTGAGAAGATAAGAGACCAAGCCCTGAACAATTCTAGACCACCTGTTAGGTATCAAGATAACGCATGTGAAATGGAACTGGTGAAGGTTTTGACACCCTTAGAGGTATACTCTGTGTTCTGAGACCTTATCAGCTACCTAATGTCAAGTTTCCTCATTTGTTTCCTTTCTCTCCTAGACTAAATTTTTAAAACAATTTTGAATGTGATTGGCTCATTGTAGTTCTGACAGGAAAATAATGCTATACTCTTTCTGGTAACTTACTTGAATCTTTATCATAAATTAACTTTAATTTTTGAATGTTTGAGATTAAACATACAGATGTAATAGATATACTGTTATATCTGTGGAGATACATTCTGAAAAATGTGAGTATCAAAAAAGCTAGAAGAACCAAGCAGTTAGCTTTAACTTCTAACATATTCTGTGGCTAGACTTTGTCTTAGTCTTTTTTAAAGATATAATTTTAATACCTTTAATTGTCATCTAAGATAAAATTCAGACTCTGAAAATAATATAATACTTATTCCTGAACCCTCCTTGGTTTGAAATTTTTCTTCTTTTCACTAATCTTGTCTTTGTAATTCAAAGAATTATGTTTGGATTGAGAATGGATAAAGTGACATAATGTTCTTGAGGTGACTTTTAACATTTTATAAATTCCTGTTACAGATAGCTAAGAACAAGCAGTATGATATGCATACAGAAGTCACAACATTAAAACAAGAAAAGAACCCAGTTCCCAGTGCTGAAGAATGGATGCTTGAAGGGTGCAGAGCATCTGGTGGACTCAAGAAAGGGGATTTCCTTAAGAAGGGCTTAGAACCAGAGACCTTCCAGAACTTTGATGGTGATCATGCATGTTCAGTCAGGGATGATGAATTTAAATTCCAAGGGCTTAGGCACACTGTGACTGCCAGGCAGTTGGTGGAAGCTAAGCTTCTGGACATGAGAACAATTGAGCAGCTGCGACTCGGTCTTAAGACTGTTGAAGAAGTTCAGAAAACTCTTAACAAGTTTCTGACGAAAGCCACCTCAATTGCAGGGCTTTACCTAGAATCTACAAAAGAAAAGATTTCATTTGCCTCAGCGGCCGAGAGAATCATAATAGACAAAATGGTGGCTTTGGCATTTTTAGAAGCTCAGGCTGCAACAGGTTTTATAATTGATCCCATTTCAGGTCAGACATATTCTGTTGAAGATGCAGTTCTTAAAGGAGTTGTTGACCCCGAATTCAGAATTAGGCTTCTTGAGGCAGAGAAGGCAGCTGTGGGATATTCTTATTCTTCTAAGACATTGTCAGTGTTTCAAGCTATGGAAAATAGAATGCTTGACAGACAAAAAGGTAAACATATCTTGGAAGCCCAGATTGCCAGTGGGGGTGTCATTGACCCTGTGAGAGGCATTCGTGTTCCTCCAGAAATTGCTCTGCAGCAGGGGTTGTTGAATAATGCCATCTTACAGTTTTTACATGAGCCATCCAGCAACACAAGAGTTTTCCCTAATCCCAATAACAAGCAAGCTCTGTATTACTCAGAATTACTGCGAATGTGTGTATTTGATGTAGAGTCCCAATGCTTTCTGTTTCCATTTGGGGAGAGGAACATTTCCAATCTCAATGTCAAGAAAACACATAGAATTTCTGTAGTAGATACTAAAACAGGATCAGAATTGACCGTGTATGAGGCTTTCCAGAGAAACCTGATTGAGAAAAGTATATATCTTGAACTTTCAGGGCAGCAATATCAGTGGAAGGAAGCTATGTTTTTTGAATCCTATGGGCATTCTTCTCATATGCTGACTGATACTAAAACAGGATTACACTTCAATATTAATGAGGCTATAGAGCAGGGAACAATTGACAAAGCCTTGGTCAAAAAGTATCAGGAAGGCCTCATCACACTTACAGAACTTGCTGATTCTTTGCTGAGCCGGTTAGTCCCCAAGAAAGATTTGCACAGTCCTGTTGCAGGGTATTGGCTGACTGCTAGTGGGGAAAGGATCTCTGTACTAAAAGCCTCCCGTAGAAATTTGGTTGATCGGATTACTGCCCTCCGATGCCTTGAAGCCCAAGTCAGTACAGGGGGCATAATTGATCCTCTTACTGGCAAAAAGTACCGGGTGGCCGAAGCTTTGCATAGAGGCCTGGTTGATGAGGGGTTTGCCCAGCAGCTGCGACAGTGTGAATTAGTAATCACAGGGATTGGCCATCCCATCACTAACAAAATGATGTCAGTGGTGGAAGCTGTGAATGCAAATATTATAAATAAGGAAATGGGAATCCGATGTTTGGAATTTCAGTACTTGACAGGAGGGTTGATAGAGCCACAGGTTCACTCTCGGTTATCAATAGAAGAGGCTCTCCAAGTAGGTATTATAGATGTCCTCATTGCCACAAAACTCAAAGATCAAAAGTCATATGTCAGAAATATAATATGCCCTCAGACAAAAAGAAAGTTGACATATAAAGAAGCCTTAGAAAAAGCTGATTTTGATTTCCACACAGGACTTAAACTGTTAGAAGTATCTGAGCCCCTGATGACAGGAATTTCTAGCCTCTACTATTCTTCCTAATGGGACATGTTTAAATAACTGTGCAAGGGGTGATGCAGGCTGGTTCATGCCACTTTTTCAGAGTATGATGATATCGGCTACATATGCAGTCTGTGAATTATGTAACATACTCTATTTCTTGAGGGCTGCAAATTGCTAAGTGCTCAAAATAGAGTAAGTTTTAAATTGAAAATTACATAAGATTTAATGCCCTTCAAATGGTTTCATTTAGCCTTGAGAATGGTTTTTTGAAACTTGGCCACACTAAAATGTTTTTTTTTTTACGTAGAATGTGGGATAAACTTGATGAACTCCAAGTTCACAGTGTCATTTCTTCAGAACTCCCCTTCATTGAATAGTGATCATTTATTAAATGATAAATTGCACTCGCTGAAAGAGCACGTCATGAAGCACCATGGAATCAAAGAGAAAGATATAAATTCGTTCCCACAGCCTTCAAGCTGCAGTGTTTTAGATTGCTTCAAAAAATGAAAAAGTTTTGCCTTTTTCTGTATATAGTGACCTTCTTTGCATATTAAAATGTTTACCACAATGTCCCATTTCTAGTTAAGTCTTCGCACTTGAAAGCTAACATTATGAATATTATGTGTTGGAGGAGGGGAAGGATTTTCTTCATTCTGTGTATTTTCCTTACATGTACAGTAGACGTTCTCTATTCTATCAGCCTTCTATGGTACCTTTTTGTCAGGACAATTAGGATTGTAATGCTAATGCAAAGGCAGCAATTCAAAGATCTTCTAGTGCCTCATGAATAAAGTTGAGATTTAAAATTTGTAACATTGATGGAACAGCTGGGAGGTTAGACCAATCATTAAGGAATGTATGCCATAGCTTTCTTTGCTACCATAAACATTTTGGAGGTGCATCTGCTATGTGACATGGTAAATATGGTTAAGTGAATGAATAAAATGTTTTAGTAACCTGTGTGTGATGAAAAAAAATTTTTACATTCTTGTTTGCTATGGAGAGGTCAGTTTAATAGCTAAGTCATTTAATGCAGTGTATATTTTTCTTACCGCTCACAACTGTCAG
Seq C2 exon
AAGTCACTGGAAGAAGAAAAGAAAGAACATGTTGAAAAAGCCAAAGAATTGCAAAAATGGGTATCAAATATCAGCAAGACATTGAAAGATGCAGAGAAGGCTGGAAAACCTCCCTTCTCTAAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:32
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.100 A=NA C2=0.535
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
(DST)
Chicken
(galGal3)
ALTERNATIVE
(DST)
Zebrafish
(danRer10)
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