HsaEX1002516 @ hg38
Exon Skipping
Gene
ENSG00000183747 | ACSM2A
Description
acyl-CoA synthetase medium-chain family member 2A [Source:HGNC Symbol;Acc:HGNC:32017]
Coordinates
chr16:20469512-20471689:+
Coord C1 exon
chr16:20469512-20469719
Coord A exon
chr16:20471073-20471216
Coord C2 exon
chr16:20471536-20471689
Length
144 bp
Sequences
Splice sites
3' ss Seq
ACAATCTGTGTCTCTGTCAGTGA
3' ss Score
7.68
5' ss Seq
TGGGTAAGC
5' ss Score
8.84
Exon sequences
Seq C1 exon
GTCTCATCTTTATGCCTGGAACCATCCAGATGAAATCCACTGACATACTGTATAGGTTGCAGATGTCTAAGGCCAAGGCTATTGTTGCTGGGGATGAAGTCATCCAAGAAGTGGACACAGTGGCATCTGAATGTCCTTCTCTGAGAATTAAGCTACTGGTGTCTGAGAAAAGCTGTGATGGGTGGCTGAACTTCAAGAAACTACTAAA
Seq A exon
TGAGGCATCCACCACTCATCACTGTGTGGAGACTGGAAGCCAGGAAGCATCTGCCATCTACTTCACTAGTGGGACCAGTGGTCTTCCCAAGATGGCAGAACATTCCTACTCGAGCCTGGGCCTCAAGGCCAAGATGGATGCTGG
Seq C2 exon
TTGGACAGGCCTGCAAGCCTCTGATATAATGTGGACCATATCAGACACAGGTTGGATACTGAACATCTTGTGCTCACTTATGGAACCTTGGGCATTAGGAGCATGCACATTTGTTCATCTCTTGCCAAAGTTTGACCCACTGGTTATTCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183747_MULTIEX4-2/3=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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=FE(11.6=100)
C2:
PF0050123=AMP-binding=FE(12.3=100)
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGATGTCTAAGGCCAAGGC
R:
GCTCCTAATGCCCAAGGTTCC
Band lengths:
252-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains