Special

HsaINT0052588 @ hg19

Intron Retention

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56324929-56327954:-
Coord C1 exon
chr6:56327844-56327954
Coord A exon
chr6:56325053-56327843
Coord C2 exon
chr6:56324929-56325052
Length
2791 bp
Sequences
Splice sites
5' ss Seq
GAGGTATTG
5' ss Score
7.44
3' ss Seq
TTGTTGCTGGTTAAATACAGGGA
3' ss Score
3.97
Exon sequences
Seq C1 exon
ATTCTCCATCCTTTAACACGCAATTATGGTAAACCATGGTTGACAAACAGCAAAATGTCAACTCCTTGTAAAGCAGCAGAGTGCTCAGACTTTCCCGTGCCATCTGCAGAG
Seq A exon
GTATTGTAAGGCCCCAGAGTCCAGTCTTAACATTCTCCTTTAACTGAAGCTATCACTCACTAACATCGTTGCACCACTCCCTAAATATATGTACTTTGCTAACCCTATGTCTTTTTATACACTTCTATAAGATAAGTATCAACCGAGCAGTTCTTGGAAGATGTGAGAGTAAGGGGTTAACAGAAAAGATAGTCTGCAGCTCTTTAAACAGTGTCAATTTGACCCAGTCACTCCTGCAGACTACCTCCTTTTTGTTCTCATTCGTACTTAGTTCCACTGTTATCTCTTGGGAGAGTAACATAGAGTAGGTTATAGCCAGACTTAAGTAAAATTTCTTTTAAAGCTACTAAATATACTAGATATAATATGGGCAAGAAGTGCAACACATTCCCTTCAAATGGGAGTAAAAGGCAGTATGATTTGCAAGAGCATCACTGAAAAGAATGTTTACTGAATGTTCACTGTGGGCATGGTCCTTCTGGATGTCTGTTACATTTATACCTGCCCCAAAACTTTGGGCAGGTGTGACATAAGCTCTCAGTATCAGTGCAGGGGGGTCAGAGGGGTAGGCTTAGGTATGCAGAAAGTTATTTGTCATTTTCAACAGGTAATAAATGTATGGGTTTTTTTTAAAGATTTTAATAACTAATTTAAGCATGCTCTAACTTTTTAATACGGCATGATATATGGGGAGAAGATATTTAGGTGATATAAAATTTGCCAAGATGAACTCATGTATCAGGTCATTTACATTCAATTGAAAATCAGCTGTATATCTTTTTAAGAAATTTCACTGTGAAACAACAGACATAGGTACAAAATAATCAGATATTTTATTAGAATCCCAATAATTAGTGGGGAAAAATCCCTAAATACCTTTTCTTGAAATTGAAGAAGGTATTTCACCTTAATGATAAAGGACGTAACTTAAAGGCCAGGATCCTCAAATAAAAGTAATATAATAACTTTTAAAAGCCCTCTTATGCTTTTCAAAACACTTTCTTGTCTGTTACTTAATCCTCACATTAATAATAAGTGACAGGCAGAGAAAAAATGTGTTACCTTCATGACTCCATGGCAATCTCATTGCTGAGAAGTGGGAGAATTGGAACAAAAACAACCCATTCTTTAGCGTTTCCTCATTTCTTCCTCCTCATTTTCCCAAGCCCCTCATTTCCACCCCTTCCCACCAACTGGGTGATGTTAGTATTATATATTACCTCTAGAGATGTCTGTCAATTATTATGGATCTATTATAGCAAAAACAGAGAAAGGTTCAAACAACCTCAAGGGACATATTAACATTTGCTTTAAATATTGAAGGCTATGATGCTGTGTTCAAAATTTTTTTTAAGTGGAAACTCTCTCAAAGTCTAAGTAGTTATTTTGACTAGTGCAAAACTGTGTTTCATTTCAAATAACGTGATGAAACAAAAAACCAAAAAACAACATGTTTCTATGGGAGGGACTGTGAAATAAAATCAAAACAATCAAGGCATTCTGAGAAGAATGATTTTGGTCTTTCACGGTTATGAATTCTGCCACCTTGAGTGGTATGTTTCATAATTTGTGGCTTCTCACTCCCTCGTGTTGTTGAGATTCTGTTTAAGTTAGGAATTTAGCTAGATCAGCATTGTCAGATCTTGGGCAAATCATGTGCCTCCTCAGGCTCTTGATTTTTCACATTTTCAAGGTTATGATTAGGTGAGTGTGAGGATTAATTGTGGTTATGTGTGTAAAAGTATTTTGAAAACTTGAACATTCTATGTATACAAATCACATATAGATACTACACTTAAGTGTATGTATAGTATACACATATGTAGATAAATGACTATTAATATTAATAAGAGTAACTCATGTATCAGATGATTATAACATTTTAAGCTAATAAAGGGAAAATCAGTTGTTTAAAAATATACATGTAATTTGTTTCAATGCATTTCCTCCAAATAGTTCTCTGGCTGTGTTTTCATTGAGGAATATTATATTACATTCCCTATGTTCCTCAAGATACTTGTTTATTTTTTTTAACTTTGGGAGAATTTTTTAAATGTTGTGATCTGGAAAAAGTGCAATGATTGTATAATAAAATCTCATACTTATGATTGTTTTAGACATTCTCTACAAACTCATATAAAGATTGTAAAAAAAAAACTTCTCCAAATGTTGCCTATGTATTTTGTCTGTAAAGACTGTAGAAGTGATAGAGCCAGGAAGTGAAGTGATGTGGTAGCAAGTTATTTAAAAATCACTTTTTTTCTTTTTGCAGTTAAGTTTATTTAAATGATGTCTGTATCCATTATTTATTTACTTATCATTCTGTGTCTGTCTCTGCCTGGCTCCATAAAAGCAATGGAGGCAGCAGAATATCCAGACACAGTTTTTCTCTGCTCCATGCCCCCTCTATGCATGCAGTCACCATCTTTTTAGCAATACACCATTAACTCTGGAATATTCACTGACAGTCTGAAAGATACTAACATACTCACCATTTATTTCTCCTTGCCATCACTTTTATGCTCAGTTTTGGGGGTCTCCATTTTGTTTTCTCTTCAACCATGAATTCATATTGTTTAGAAAGTTTCTTTGAATTCTGAGAGAGAATGAGAAATTAGAAGAGAAAATCAAGTGAGAACCCCATGCCTTATTTAATTGAAGAGTTTCTCCCCCTTCACCTCCTAAAGAGGAATAGTAGAGAGTTTCCACCCATATGTAAAGAAGTGGTGTCAGTGGAATATCATGGTACAGGAGCAATATTTTGAAATGTCTTGTTGCTGGTTAAATACAG
Seq C2 exon
GGAACGCCAATACAAGGAAGCAAGCTTCGACTTCCAGGATATTTATCAGGGAAAGGCTTCCACTCTGGGGAGGACAGTGGCTTGATAACAACTGCAGCTGCCAGAGTCCGAACACAGTTTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_015548:82
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.757 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
(DST)
Chicken
(galGal3)
ALTERNATIVE
(DST)
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