HsaINT0052587 @ hg38
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56460131-56463764:-
Coord C1 exon
chr6:56463565-56463764
Coord A exon
chr6:56460255-56463564
Coord C2 exon
chr6:56460131-56460254
Length
3310 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TTGTTGCTGGTTAAATACAGGGA
3' ss Score
3.97
Exon sequences
Seq C1 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
Seq A exon
GTAAGACTCAGGATGAAGACTTTTCCTCCACCTTTGCAATCAATGTCCCAAGTAGACTTTTGAATGTTCTATTTAGGGCCCTAGAATTTGTAGGACCAGCTATCTCCATTTGTGCACCTTCTCATACTGTGGGAAATACAGGAATTTTTTTTTGAATGTATGCTTTTGCCTAGTGGCCCACATAGAGATGATCTATTTAGGAAGCCTTTGTGATCTTCCAGATTGATTTTTCTTTTTAAAGCTTCATTCATTTTTTTGGTGTGTATGATTTGCCATTGGATCTTTTCACTTATTTTAAATTATTATTCTTACTGTGAAATGTGACTCTTTGCTATGAATATCTCTTTCTGTGGCTTTGTTTTTTTTATCTGCTATCCTTTTCATTTGATTTGCCATTGTTCCATACAGATTCTCCATCCTTTAACACGCAATTATGGTAAACCATGGTTGACAAACAGCAAAATGTCAACTCCTTGTAAAGCAGCAGAGTGCTCAGACTTTCCCGTGCCATCTGCAGAGGTATTGTAAGGCCCCAGAGTCCAGTCTTAACATTCTCCTTTAACTGAAGCTATCACTCACTAACATCGTTGCACCACTCCCTAAATATATGTACTTTGCTAACCCTATGTCTTTTTATACACTTCTATAAGATAAGTATCAACCGAGCAGTTCTTGGAAGATGTGAGAGTAAGGGGTTAACAGAAAAGATAGTCTGCAGCTCTTTAAACAGTGTCAATTTGACCCAGTCACTCCTGCAGACTACCTCCTTTTTGTTCTCATTCGTACTTAGTTCCACTGTTATCTCTTGGGAGAGTAACATAGAGTAGGTTATAGCCAGACTTAAGTAAAATTTCTTTTAAAGCTACTAAATATACTAGATATAATATGGGCAAGAAGTGCAACACATTCCCTTCAAATGGGAGTAAAAGGCAGTATGATTTGCAAGAGCATCACTGAAAAGAATGTTTACTGAATGTTCACTGTGGGCATGGTCCTTCTGGATGTCTGTTACATTTATACCTGCCCCAAAACTTTGGGCAGGTGTGACATAAGCTCTCAGTATCAGTGCAGGGGGGTCAGAGGGGTAGGCTTAGGTATGCAGAAAGTTATTTGTCATTTTCAACAGGTAATAAATGTATGGGTTTTTTTTAAAGATTTTAATAACTAATTTAAGCATGCTCTAACTTTTTAATACGGCATGATATATGGGGAGAAGATATTTAGGTGATATAAAATTTGCCAAGATGAACTCATGTATCAGGTCATTTACATTCAATTGAAAATCAGCTGTATATCTTTTTAAGAAATTTCACTGTGAAACAACAGACATAGGTACAAAATAATCAGATATTTTATTAGAATCCCAATAATTAGTGGGGAAAAATCCCTAAATACCTTTTCTTGAAATTGAAGAAGGTATTTCACCTTAATGATAAAGGACGTAACTTAAAGGCCAGGATCCTCAAATAAAAGTAATATAATAACTTTTAAAAGCCCTCTTATGCTTTTCAAAACACTTTCTTGTCTGTTACTTAATCCTCACATTAATAATAAGTGACAGGCAGAGAAAAAATGTGTTACCTTCATGACTCCATGGCAATCTCATTGCTGAGAAGTGGGAGAATTGGAACAAAAACAACCCATTCTTTAGCGTTTCCTCATTTCTTCCTCCTCATTTTCCCAAGCCCCTCATTTCCACCCCTTCCCACCAACTGGGTGATGTTAGTATTATATATTACCTCTAGAGATGTCTGTCAATTATTATGGATCTATTATAGCAAAAACAGAGAAAGGTTCAAACAACCTCAAGGGACATATTAACATTTGCTTTAAATATTGAAGGCTATGATGCTGTGTTCAAAATTTTTTTTAAGTGGAAACTCTCTCAAAGTCTAAGTAGTTATTTTGACTAGTGCAAAACTGTGTTTCATTTCAAATAACGTGATGAAACAAAAAACCAAAAAACAACATGTTTCTATGGGAGGGACTGTGAAATAAAATCAAAACAATCAAGGCATTCTGAGAAGAATGATTTTGGTCTTTCACGGTTATGAATTCTGCCACCTTGAGTGGTATGTTTCATAATTTGTGGCTTCTCACTCCCTCGTGTTGTTGAGATTCTGTTTAAGTTAGGAATTTAGCTAGATCAGCATTGTCAGATCTTGGGCAAATCATGTGCCTCCTCAGGCTCTTGATTTTTCACATTTTCAAGGTTATGATTAGGTGAGTGTGAGGATTAATTGTGGTTATGTGTGTAAAAGTATTTTGAAAACTTGAACATTCTATGTATACAAATCACATATAGATACTACACTTAAGTGTATGTATAGTATACACATATGTAGATAAATGACTATTAATATTAATAAGAGTAACTCATGTATCAGATGATTATAACATTTTAAGCTAATAAAGGGAAAATCAGTTGTTTAAAAATATACATGTAATTTGTTTCAATGCATTTCCTCCAAATAGTTCTCTGGCTGTGTTTTCATTGAGGAATATTATATTACATTCCCTATGTTCCTCAAGATACTTGTTTATTTTTTTTAACTTTGGGAGAATTTTTTAAATGTTGTGATCTGGAAAAAGTGCAATGATTGTATAATAAAATCTCATACTTATGATTGTTTTAGACATTCTCTACAAACTCATATAAAGATTGTAAAAAAAAAACTTCTCCAAATGTTGCCTATGTATTTTGTCTGTAAAGACTGTAGAAGTGATAGAGCCAGGAAGTGAAGTGATGTGGTAGCAAGTTATTTAAAAATCACTTTTTTTCTTTTTGCAGTTAAGTTTATTTAAATGATGTCTGTATCCATTATTTATTTACTTATCATTCTGTGTCTGTCTCTGCCTGGCTCCATAAAAGCAATGGAGGCAGCAGAATATCCAGACACAGTTTTTCTCTGCTCCATGCCCCCTCTATGCATGCAGTCACCATCTTTTTAGCAATACACCATTAACTCTGGAATATTCACTGACAGTCTGAAAGATACTAACATACTCACCATTTATTTCTCCTTGCCATCACTTTTATGCTCAGTTTTGGGGGTCTCCATTTTGTTTTCTCTTCAACCATGAATTCATATTGTTTAGAAAGTTTCTTTGAATTCTGAGAGAGAATGAGAAATTAGAAGAGAAAATCAAGTGAGAACCCCATGCCTTATTTAATTGAAGAGTTTCTCCCCCTTCACCTCCTAAAGAGGAATAGTAGAGAGTTTCCACCCATATGTAAAGAAGTGGTGTCAGTGGAATATCATGGTACAGGAGCAATATTTTGAAATGTCTTGTTGCTGGTTAAATACAG
Seq C2 exon
GGAACGCCAATACAAGGAAGCAAGCTTCGACTTCCAGGATATTTATCAGGGAAAGGCTTCCACTCTGGGGAGGACAGTGGCTTGATAACAACTGCAGCTGCCAGAGTCCGAACACAGTTTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:91
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.701 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0218712=GAS2=PD(2.5=3.0)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
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