HsaINT0052552 @ hg19
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56394246-56394931:-
Coord C1 exon
chr6:56394772-56394931
Coord A exon
chr6:56394573-56394771
Coord C2 exon
chr6:56394246-56394572
Length
199 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
3' ss Seq
TTTTTTTAAACTTTGCTTAGGCC
3' ss Score
6.63
Exon sequences
Seq C1 exon
GAATCGTCAGTTGGAAGGTATCTCGGTGGTAGCACAGCAATTTCATGAAACCTTAGAACCACTGAACGAGTGGCTTACAACCATAGAAAAGAGGCTGGTGAATTGTGAACCCATAGGAACCCAAGCATCTAAACTTGAGGAACAAATTGCACAGCACAAA
Seq A exon
GTAAGATATAAATCACACATTAGCGAGGTTCAGTTTTTATTGTGTGGTTTTGTGACATAAATTTGAGTTATGTACTATTGTTTTGTTTAATTGCAAACTAAATCCATTTAACATGTCATGCTTTAGTTTTATTTATGTTTTCATTTTTATTTGTCCATTCTTTTTGTTTTTCTTCTTTATTTTTTTAAACTTTGCTTAG
Seq C2 exon
GCCTTAGAAGATGACATCATCAATCACAATAAACATTTACACCAGGCTGTTAGCATTGGCCAGTCCTTAAAGGTTTTGAGCTCCAGGGAGGATAAAGATATGGTGCAGAGTAAATTAGACTTCTCTCAAGTATGGTACATTGAGATTCAAGAGAAAAGTCACAGCAGGTCTGAGCTCCTCCAGCAGGCCTTATGTAATGCTAAGATTTTTGGGGAAGATGAAGTTGAACTGATGAACTGGCTGAATGAAGTGCATGACAAACTGAGCAAGCTCTCAGTCCAGGATTACAGCACTGAGGGGCTATGGAAGCAGCAGTCTGAACTTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_015548:46
Average complexity
IR-S
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=PD(57.5=56.0),PF0043516=Spectrin=PU(38.2=35.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGGTGAATTGTGAACCCA
R:
AGCTCAGACCTGCTGTGACTT
Band lengths:
244-443
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)