Special

HsaEX0049846 @ hg19

Exon Skipping

Gene
Description
palmitoyl-protein thioesterase 2 [Source:HGNC Symbol;Acc:9326]
Coordinates
chr6:32125414-32130399:+
Coord C1 exon
chr6:32125414-32125497
Coord A exon
chr6:32125617-32125701
Coord C2 exon
chr6:32130345-32130399
Length
85 bp
Sequences
Splice sites
3' ss Seq
CTCTTCTTCCCATCCTACAGTAT
3' ss Score
8.25
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
ATCCCCACCACGATGACTTGTACCTCAATGCCAGCAGCTTCCTGGCCCTGATCAATGGGGAAAGAGACCATCCCAATGCCACAG
Seq A exon
TATGGCGGAAGAACTTTCTGCGTGTGGGCCACCTGGTGCTGATTGGGGGCCCTGATGATGGTGTTATTACTCCCTGGCAGTCCAG
Seq C2 exon
CTTCTTTGGTTTCTATGATGCAAATGAGACCGTCCTGGAGATGGAGGAGCAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000221988-'10-21,'10-20,12-21
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=0.076
Domain overlap (PFAM):

C1:
PF0208910=Palm_thioest=FE(10.4=100)
A:
PF0208910=Palm_thioest=PD(32.9=93.1)
C2:
PF0208910=Palm_thioest=FE(6.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCCACCACGATGACTTGTA
R:
TTGCTCCTCCATCTCCAGGAC
Band lengths:
135-220
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development