Special

HsaEX1002517 @ hg38

Exon Skipping

Gene
ENSG00000183747 | ACSM2A
Description
acyl-CoA synthetase medium-chain family member 2A [Source:HGNC Symbol;Acc:HGNC:32017]
Coordinates
chr16:20471073-20475441:+
Coord C1 exon
chr16:20471073-20471216
Coord A exon
chr16:20471536-20471689
Coord C2 exon
chr16:20475362-20475441
Length
154 bp
Sequences
Splice sites
3' ss Seq
TGTTTTGTCTGTGTTTTCAGTTG
3' ss Score
9.69
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
TGAGGCATCCACCACTCATCACTGTGTGGAGACTGGAAGCCAGGAAGCATCTGCCATCTACTTCACTAGTGGGACCAGTGGTCTTCCCAAGATGGCAGAACATTCCTACTCGAGCCTGGGCCTCAAGGCCAAGATGGATGCTGG
Seq A exon
TTGGACAGGCCTGCAAGCCTCTGATATAATGTGGACCATATCAGACACAGGTTGGATACTGAACATCTTGTGCTCACTTATGGAACCTTGGGCATTAGGAGCATGCACATTTGTTCATCTCTTGCCAAAGTTTGACCCACTGGTTATTCTAAAG
Seq C2 exon
ACACTCTCCAGTTATCCAATCAAGAGTATGATGGGTGCCCCCATTGTTTACCGGATGTTGCTACAGCAGGATCTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183747_MULTIEX4-3/3=2-C2
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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(11.6=100)
A:
PF0050123=AMP-binding=FE(12.3=100)
C2:
PF0050123=AMP-binding=FE(6.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCATCCACCACTCATCACTG
R:
CTGGAAAGATCCTGCTGTAGCA
Band lengths:
221-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains