HsaEX1002515 @ hg38
Exon Skipping
Gene
ENSG00000183747 | ACSM2A
Description
acyl-CoA synthetase medium-chain family member 2A [Source:HGNC Symbol;Acc:HGNC:32017]
Coordinates
chr16:20469512-20471216:+
Coord C1 exon
chr16:20469512-20469719
Coord A exon
chr16:20470816-20470958
Coord C2 exon
chr16:20471073-20471216
Length
143 bp
Sequences
Splice sites
3' ss Seq
TGATCTCACTTTTTTTGCAGATA
3' ss Score
10.26
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
GTCTCATCTTTATGCCTGGAACCATCCAGATGAAATCCACTGACATACTGTATAGGTTGCAGATGTCTAAGGCCAAGGCTATTGTTGCTGGGGATGAAGTCATCCAAGAAGTGGACACAGTGGCATCTGAATGTCCTTCTCTGAGAATTAAGCTACTGGTGTCTGAGAAAAGCTGTGATGGGTGGCTGAACTTCAAGAAACTACTAAA
Seq A exon
ATATAAAGTCAGACACAGAGACGTTAAATAAGTAGTTTAAGGTTGCATTGATAACAAAGTGTGAAACTTCAGTAGTTTTCAAACCCAACTCTGATTGACTCAGACTCCCATGATCTTAATCACTCAGCAGCCTCTCTTGTGAG
Seq C2 exon
TGAGGCATCCACCACTCATCACTGTGTGGAGACTGGAAGCCAGGAAGCATCTGCCATCTACTTCACTAGTGGGACCAGTGGTCTTCCCAAGATGGCAGAACATTCCTACTCGAGCCTGGGCCTCAAGGCCAAGATGGATGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183747_MULTIEX4-1/3=C1-2
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=PD(15.0=75.0)
A:
PF0050123=AMP-binding=PD(2.7=36.4)
C2:
PF0050123=AMP-binding=FE(11.6=100)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
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:
CAAGAAGTGGACACAGTGGCA
R:
CAGCATCCATCTTGGCCTTGA
Band lengths:
247-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains