HsaEX0002067 @ hg38
Exon Skipping
Gene
ENSG00000123983 | ACSL3
Description
acyl-CoA synthetase long-chain family member 3 [Source:HGNC Symbol;Acc:HGNC:3570]
Coordinates
chr2:222918046-222921430:+
Coord C1 exon
chr2:222918046-222918155
Coord A exon
chr2:222919064-222919202
Coord C2 exon
chr2:222921280-222921430
Length
139 bp
Sequences
Splice sites
3' ss Seq
GAATGTTGGTGTATTTCTAGGAT
3' ss Score
5.84
5' ss Seq
TGGGTATGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
TTGTTACATTATATGCCACTCTAGGAGGTCCAGCCATTGTTCATGCATTAAATGAAACAGAGGTGACCAACATCATTACTAGTAAAGAACTCTTACAAACAAAGTTGAAG
Seq A exon
GATATAGTTTCTTTGGTCCCACGCCTGCGGCACATCATCACTGTTGATGGAAAGCCACCGACCTGGTCCGAGTTCCCCAAGGGCATCATTGTGCATACCATGGCTGCAGTGGAGGCCCTGGGAGCCAAGGCCAGCATGG
Seq C2 exon
AAAACCAACCTCATAGCAAACCATTGCCCTCAGATATTGCAGTAATCATGTACACAAGTGGATCCACAGGACTTCCAAAGGGAGTCATGATCTCACATAGTAACATTATTGCTGGTATAACTGGGATGGCAGAAAGGATTCCAGAACTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123983-'35-26,'35-24,38-26
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.015 C2=0.058
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(11.6=100)
A:
PF0050123=AMP-binding=PD(25.8=83.0)
C2:
PF0050123=AMP-binding=FE(10.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCACTCTAGGAGGTCCAG
R:
CTGGAATCCTTTCTGCCATCCC
Band lengths:
242-381
Functional annotations
There are 1 annotated functions for this event
PMID: 20429931
[Inferred from paralogous MUTEX event in ASCL6]. Isoforms with different fatty acid Gate-domain motifs (by inclusion of mutually exclusive exons) have different activity and the form lacking this domain, isoform 3 (including no exon), showed no detectable activity.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development