HsaINT0052587 @ hg19
Intron Retention
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56327844-56328562:-
Coord C1 exon
chr6:56328363-56328562
Coord A exon
chr6:56327955-56328362
Coord C2 exon
chr6:56327844-56327954
Length
408 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TTTGCCATTGTTCCATACAGATT
3' ss Score
8.05
Exon sequences
Seq C1 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
Seq A exon
GTAAGACTCAGGATGAAGACTTTTCCTCCACCTTTGCAATCAATGTCCCAAGTAGACTTTTGAATGTTCTATTTAGGGCCCTAGAATTTGTAGGACCAGCTATCTCCATTTGTGCACCTTCTCATACTGTGGGAAATACAGGAATTTTTTTTTGAATGTATGCTTTTGCCTAGTGGCCCACATAGAGATGATCTATTTAGGAAGCCTTTGTGATCTTCCAGATTGATTTTTCTTTTTAAAGCTTCATTCATTTTTTTGGTGTGTATGATTTGCCATTGGATCTTTTCACTTATTTTAAATTATTATTCTTACTGTGAAATGTGACTCTTTGCTATGAATATCTCTTTCTGTGGCTTTGTTTTTTTTATCTGCTATCCTTTTCATTTGATTTGCCATTGTTCCATACAG
Seq C2 exon
ATTCTCCATCCTTTAACACGCAATTATGGTAAACCATGGTTGACAAACAGCAAAATGTCAACTCCTTGTAAAGCAGCAGAGTGCTCAGACTTTCCCGTGCCATCTGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-DST:NM_015548:81
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.703 A=NA C2=0.757
Domain overlap (PFAM):
C1:
PF0218712=GAS2=PD(2.5=3.0)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGGACAAACATGGAACTGC
R:
CAGATGGCACGGGAAAGTCTG
Band lengths:
302-710
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)