HsaEX6094931 @ hg19
Exon Skipping
Gene
ENSG00000130402 | ACTN4
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39138310-39191761:+
Coord C1 exon
chr19:39138310-39138547
Coord A exon
chr19:39191240-39191354
Coord C2 exon
chr19:39191642-39191761
Length
115 bp
Sequences
Splice sites
3' ss Seq
CCTTTGTTCTGCTTCCCCAGACC
3' ss Score
9.92
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GCGGCGGCGGCTCGGGCAGAGGGGCGGGAGCTGAGGCGGGAGCGGACAGGCTGGTGGGCGAGCGAGAGGCGGCGGAATGGTGGACTACCACGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGACTACATGGCCCAGGAGGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAG
Seq A exon
ACCTTCACGGCATGGTGCAACTCCCACCTGCGGAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAG
Seq C2 exon
GGGAGCGGTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAAGCTGGTCTCCATCGGGGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'0-3,'0-2,4-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.722 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(1.0=1.9)
A:
PF0030726=CH=FE(37.3=100)
C2:
PF0030726=CH=FE(39.2=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCGGAATGGTGGACTAC
R:
AAGTCCAGCGCTTTGTTCACA
Band lengths:
245-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)