Special

HsaEX6042609 @ hg38

Exon Skipping

Gene
Description
acyl-CoA synthetase medium-chain family member 1 [Source:HGNC Symbol;Acc:HGNC:18049]
Coordinates
chr16:20625423-20637451:-
Coord C1 exon
chr16:20636739-20637451
Coord A exon
chr16:20627189-20627316
Coord C2 exon
chr16:20625423-20625522
Length
128 bp
Sequences
Splice sites
3' ss Seq
GAGCTCTCTTCTTTTTGCAGGGT
3' ss Score
9.21
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
CAGTTTCATATGGAGGCCTCAGTTGAAAACTGCATTATTGTGAGCATGAACACCGCTGACCCTGGCAGCCAGGGCATCACACACAGTAGGTAGGAAAGAATACCTAGAGGCTGCACTGGGAGCCCTCTCTAGCAAGTGGTGCTTTTCATTTTTTTTGATCACTGTTTTCCAACTTGAAGACACATTGGTGACATCTACTAACTCATGAAACATAGACCCTTGGCTTGAGTTTCACATTTGCGTATTTTAAAGGCTTTTGACAGTTTTATTCCATTTTCTGATGTTTCCTCTGTTATTTCATCCACACTGGTGTCCCATGCATAAACCAGACAGTGCTTGGGTGGGGCAGAAGGGCTGCGGCCTCCTGCAGTGTATGATTCACAGGCCTCTTGCTACAGGTCATTGATGACAAGGGCAGCATCCTGCCACCTAACACAGAAGGAAACATTGGCATCAGAATCAAACCTGTCAGGCCTGTGAGCCTCTTCATGTGCTATGAG
Seq A exon
GGTGACCCAGAGAAGACAGCTAAAGTGGAATGTGGGGACTTCTACAACACTGGGGACAGAGGTAAGATGGATGAAGAGGGCTACATTTGTTTCCTGGGGAGGAGTGATGACATCATTAATGCCTCTGG
Seq C2 exon
GTATCGCATCGGGCCTGCAGAGGTTGAAAGCGCTTTGGTGGAGCACCCAGCGGTGGCGGAGTCAGCCGTGGTGGGCAGCCCAGACCCGATTCGAGGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166743-'21-28,'21-25,23-28=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.027 A=0.092 C2=0.088
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(8.0=100)
A:
PF0050123=AMP-binding=PD(0.1=0.0),PF0050123=AMP-binding=PD(91.3=95.5)
C2:
PF131931=AMP-binding_C=PU(32.1=76.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
HIGH PSI
([2])
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCCACACTGGTGTCCCAT
R:
ACCAAAGCGCTTTCAACCTCT
Band lengths:
242-370
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains