HsaINT1011952 @ hg38
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56631883-56633037:-
Coord C1 exon
chr6:56632854-56633037
Coord A exon
chr6:56632041-56632853
Coord C2 exon
chr6:56631883-56632040
Length
813 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
3' ss Seq
AAACATATTTATTTTCACAGAGG
3' ss Score
5.58
Exon sequences
Seq C1 exon
ATAAAGACAATGCTACCTGGTGAACATCAGCAAGTTCTAAGTAATCTACAATCTCGTTTTGAAGATTTTCTGGAAGATAGCCAGGAATCCCAAGTCTTTTCAGGCTCAGATATAACACAACTGGAAAAGGAGGTTAATGTATGTAAGCAGTATTATCAAGAACTTCTTAAATCTGCAGAAAGAG
Seq A exon
GTAAAGCATGGGGATCCCTGTCTTTTTTTCCCCATAGGTGTTTAGTTCTGGCTATTTTTTGCTCTCAATGGGAATCTCAATCTTAGGTATATTGTATCACCCAGCCTATGATATGTAGACACAATTGGTGGAACGGTAAAAGCATGTTTGAGGTAGGAAGACTCAAGAAGGGATTAATTTGTTTCCAAATGATAAATTAATGAAAGGTGCCAACCAACTGGTTGGACAAACAACGAATTCTTACTTTTCAACGTTTTCACTATTTTGCAATCCTTCAGTTTCAGAAAAGATTCAATTATTTTCCCATTTACCAAACTTGGATTTTATACAAGGATTAAAGCAAAAGGTTTTTGCCTAGTTAACTTTTGTTAAATACAGATTTTATTCTGAACTTTAAAAATTTTAATTAGAGACAATTTTATTAGTAATATTCTATTTTTTAAAAATCTTAAACATTAAATATTATTTACCTAATATTTACTTTTAAGGATTTTTATTTGATTTTTGTAATTAATTTTTGCAGCTAATATAATTCACATTTTTGTGAACATAAAATAGCAACGTATTACTTTGGACAGCATTTAATCGGAAATTGGTACTTCAAATGGCATTTGGGAAATTTTATTAATTCTTCTTAAATTTTAAGATTTATGTTTTAAGATTTATATCCTTAGAATGGGTTTGTGATGAAAACAGGAATCATTTGCTTGACTAGCTGTGTCCCAGTAATATAAAATTCTCATATTAAAACATAAACAGAAGCTTCTAAGAGATAGAAAACAAGGTATTTTCTAAACATATTTATTTTCACAG
Seq C2 exon
AGGAGCAAGAGGAATCAGTTTATAATCTCTACATCTCTGAAGTTCGAAACATTAGACTTCGGTTAGAGAACTGTGAAGATCGGCTGATTAGACAGATTCGAACTCCCCTGGAAAGAGATGATTTGCATGAAAGTGTGTTCAGAATCACAGAACAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:24
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:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGACAATGCTACCTGGTGAACA
R:
GTTCTGTGATTCTGAACACACTT
Band lengths:
334-1147
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains