HsaINT0052552 @ hg38
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56528841-56530133:-
Coord C1 exon
chr6:56529974-56530133
Coord A exon
chr6:56528926-56529973
Coord C2 exon
chr6:56528841-56528925
Length
1048 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
3' ss Seq
AATGGTACCTGTGTTTTCAGGTT
3' ss Score
8.46
Exon sequences
Seq C1 exon
GAATCGTCAGTTGGAAGGTATCTCGGTGGTAGCACAGCAATTTCATGAAACCTTAGAACCACTGAACGAGTGGCTTACAACCATAGAAAAGAGGCTGGTGAATTGTGAACCCATAGGAACCCAAGCATCTAAACTTGAGGAACAAATTGCACAGCACAAA
Seq A exon
GTAAGATATAAATCACACATTAGCGAGGTTCAGTTTTTATTGTGTGGTTTTGTGACATAAATTTGAGTTATGTACTATTGTTTTGTTTAATTGCAAACTAAATCCATTTAACATGTCATGCTTTAGTTTTATTTATGTTTTCATTTTTATTTGTCCATTCTTTTTGTTTTTCTTCTTTATTTTTTTAAACTTTGCTTAGGCCTTAGAAGATGACATCATCAATCACAATAAACATTTACACCAGGCTGTTAGCATTGGCCAGTCCTTAAAGGTTTTGAGCTCCAGGGAGGATAAAGATATGGTGCAGAGTAAATTAGACTTCTCTCAAGTATGGTACATTGAGATTCAAGAGAAAAGTCACAGCAGGTCTGAGCTCCTCCAGCAGGCCTTATGTAATGCTAAGATTTTTGGGGAAGATGAAGTTGAACTGATGAACTGGCTGAATGAAGTGCATGACAAACTGAGCAAGCTCTCAGTCCAGGATTACAGCACTGAGGGGCTATGGAAGCAGCAGTCTGAACTTCGGGTATTTTGATTTATTTTATTTTATCTTATTTTTTCATTTCAATTGTCATTATTTCTTAGTCCTTATTTCTGTACAATTTTATGTTTATGATGATTTCGATGAATTGCTGTACTTAAAAAAAGACTGTTTATACAGATTACTTTTAATGAAGTCATTTTAAAGAAAAGAGTGACTCTATCCAATTAGCTGGATATTTCACTTTTCATTTTGTTATTTTATTGTTGTATACAAAGACCTGTATTAACCAGTACTTCAGTATGTCCACAAAGCCCATTTTCATAGGGCCCTAAGTATTTTCTGAAAAGGAATATGCTGTGAATTATGGTAGATGAACATGGGACATGGGCCACAGAGGTGAAAAGAAGAGGTCTAAACATGGGAACAATAAGAACATTTGAAAATGTGAGATATTTACTCAAATATGTCTCTGTGAAATCTAATTAAAGTTCTCTGAGATTAACTAATGTTAATGCTAACTTAAATGTTTTTCCCCCCACATAAAAATGGTACCTGTGTTTTCAG
Seq C2 exon
GTTCTGCAAGAGGACATCTTACTCAGGAAACAAAATGTAGATCAGGCTTTACTAAATGGTTTAGAACTACTTAAACAAACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914:ENST00000370788:56
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:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(40.6=79.6)
A:
NA
C2:
PF0043516=Spectrin=FE(27.5=100)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCAGTTGGAAGGTATCTCGG
R:
TGGTTTGTTTAAGTAGTTCTAAACCA
Band lengths:
238-1286
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