Special

HsaEX0017132 @ hg38

Exon Skipping

Gene
Description
carnitine O-acetyltransferase [Source:HGNC Symbol;Acc:HGNC:2342]
Coordinates
chr9:129107814-129110804:-
Coord C1 exon
chr9:129110483-129110804
Coord A exon
chr9:129109179-129109277
Coord C2 exon
chr9:129107814-129108077
Length
99 bp
Sequences
Splice sites
3' ss Seq
TGCACCAACCCTAATTTCAGGAC
3' ss Score
6.48
5' ss Seq
CAGGTGGAT
5' ss Score
3.56
Exon sequences
Seq C1 exon
ATCGATGCCCCGTCCCCGCCCCACAGCCAACCTCCCGGGCACCGTTGCCCGCCCGGGGCCCGCTACCGGCCCAGGCCCCGCCTCGCGAGTCCTCCTCCCCGGGTGCCTTCCCGCAGCCCGCTCGGCCCAGAGGGTGGGCGCGGGGCTGCCTCTACCGGCTGGCGGCTGTAACTCAGCGACCTTGGCCCGAAGGCTCTAGCAAGGACCCACCGACCCCAGCCGCGGCGGCGGCGGCGCGGACTTTGCCCGGTGTGTGGGGCGGAGCGGACTGCGTGTCCGCGGACGGGCAGCGAAGATGTTAGCCTTCGCTGCCAGGACCGTG
Seq A exon
GACCGATCCCAGGGCTGTGGTGTAACCTCAGCGGCCAGGCAGTCTCTGTCCTCCAGCCAAGTTTTCCCTCATCAAAACGATCTTCGCAGATTCTGACAG
Seq C2 exon
GTGAAGCCTCTGGGCTTCCTGAAGCCCTTCTCCTTGATGAAGGCTTCCAGCCGCTTCAAGGCACACCAGGATGCACTGCCACGGCTGCCCGTGCCCCCTCTCCAGCAGTCCCTGGACCACTACCTGAAGGCGCTGCAGCCCATCGTGAGTGAGGAGGAGTGGGCCCACACCAAGCAGCTGGTGGATGAGTTTCAGGCCTCAGGAGGTGTAGGGGAGCGCCTGCAGAAGGGGCTGGAGCGTCGGGCCAGGAAGACGGAGAACTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095321-'1-11,'1-6,4-11=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.129 C2=0.135
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0075515=Carn_acyltransf=PU(10.8=71.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
GAAGGCTCTAGCAAGGACCCA
R:
TCAAGGAGAAGGGCTTCAGGA
Band lengths:
171-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development