HsaEX1002514 @ hg38
Exon Skipping
Gene
ENSG00000183747 | ACSM2A
Description
acyl-CoA synthetase medium-chain family member 2A [Source:HGNC Symbol;Acc:HGNC:32017]
Coordinates
chr16:20475650-20477449:+
Coord C1 exon
chr16:20475650-20475773
Coord A exon
chr16:20476469-20476659
Coord C2 exon
chr16:20477369-20477449
Length
191 bp
Sequences
Splice sites
3' ss Seq
CCTTGGAAGAACTTTTGCAGAAG
3' ss Score
-1.91
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
TTACAAGTTCCCCCATCTACAGAACTGCGTCACTGTAGGGGAGTCCCTTCTTCCAGAAACTCTGGAGAACTGGAGGGCCCAGACAGGACTGGACATCCGAGAATCCTATGGCCAGACAGAAACG
Seq A exon
AAGGTTGACGGCAGCTCTGTGGTATGAAAGAGCCAGGAAGAGCTCTGCAAATATGAATAAGGACAATGGAGTTGTGGCAAGCATACCCTGGCAGGGGCCTCCCACCATTCAGAGGAGGACATGTTTAGGATATGCTTACAAGGACACTCAGGTTCCCATGATCTTAATCACTCAGCAGCCTCTCTTCTGAG
Seq C2 exon
GGATTAACTTGCATGGTTTCCAAGACAATGAAAATCAAACCAGGATACATGGGAACGGCTGCTTCCTGTTATGATGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183747_MULTIEX3-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(12.9=100)
A:
PF0050123=AMP-binding=PD(1.9=66.7)
C2:
PF0050123=AMP-binding=FE(6.3=100)
Main Inclusion Isoform:
ENST00000219054fB8608
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGTTCCCCCATCTACAGA
R:
TGTACATCATAACAGGAAGCAGCC
Band lengths:
202-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains