HsaEX0021047 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56528841-56530133:-
Coord C1 exon
chr6:56529974-56530133
Coord A exon
chr6:56529448-56529774
Coord C2 exon
chr6:56528841-56528925
Length
327 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTAAACTTTGCTTAGGCC
3' ss Score
6.63
5' ss Seq
CGGGTATTT
5' ss Score
4.84
Exon sequences
Seq C1 exon
GAATCGTCAGTTGGAAGGTATCTCGGTGGTAGCACAGCAATTTCATGAAACCTTAGAACCACTGAACGAGTGGCTTACAACCATAGAAAAGAGGCTGGTGAATTGTGAACCCATAGGAACCCAAGCATCTAAACTTGAGGAACAAATTGCACAGCACAAA
Seq A exon
GCCTTAGAAGATGACATCATCAATCACAATAAACATTTACACCAGGCTGTTAGCATTGGCCAGTCCTTAAAGGTTTTGAGCTCCAGGGAGGATAAAGATATGGTGCAGAGTAAATTAGACTTCTCTCAAGTATGGTACATTGAGATTCAAGAGAAAAGTCACAGCAGGTCTGAGCTCCTCCAGCAGGCCTTATGTAATGCTAAGATTTTTGGGGAAGATGAAGTTGAACTGATGAACTGGCTGAATGAAGTGCATGACAAACTGAGCAAGCTCTCAGTCCAGGATTACAGCACTGAGGGGCTATGGAAGCAGCAGTCTGAACTTCGG
Seq C2 exon
GTTCTGCAAGAGGACATCTTACTCAGGAAACAAAATGTAGATCAGGCTTTACTAAATGGTTTAGAACTACTTAAACAAACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX1-2/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(40.6=79.6)
A:
PF0043516=Spectrin=PD(57.5=56.0),PF0043516=Spectrin=PU(38.2=35.8)
C2:
PF0043516=Spectrin=FE(27.5=100)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCAGTTGGAAGGTATCTCGG
R:
TGGTTTGTTTAAGTAGTTCTAAACCA
Band lengths:
238-565
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development