Special

HsaEX0049849 @ hg19

Exon Skipping

Gene
Description
palmitoyl-protein thioesterase 2 [Source:HGNC Symbol;Acc:9326]
Coordinates
chr6:32122364-32123560:+
Coord C1 exon
chr6:32122364-32122554
Coord A exon
chr6:32122807-32122960
Coord C2 exon
chr6:32123465-32123560
Length
154 bp
Sequences
Splice sites
3' ss Seq
GCATTGCCCCCTTCCCACAGACA
3' ss Score
10.24
5' ss Seq
AGGGTAGGC
5' ss Score
7.26
Exon sequences
Seq C1 exon
GCGGGAGCATGCTGGGGCTCTGCGGGCAGCGGCTCCCCGCGGCGTGGGTCCTGCTTCTGTTGCCTTTCCTGCCGCTGCTGCTGCTTGCAGCCCCCGCGCCCCACCGCGCGTCCTACAAGCCGGTCATCGTGGTGCATGGGCTCTTCGACAGCTCGTACAGCTTCCGCCACCTGCTGGAATACATCAATGAG
Seq A exon
ACACACCCCGGGACTGTGGTGACAGTGCTCGATCTCTTCGATGGGAGAGAGAGCTTGCGACCCCTGTGGGAACAGGTGCAAGGGTTCCGAGAGGCTGTGGTCCCCATCATGGCAAAGGCCCCTCAAGGGGTGCATCTCATCTGCTACTCGCAGG
Seq C2 exon
GGGGCCTTGTGTGCCGGGCTCTGCTTTCTGTCATGGATGATCACAACGTGGATTCTTTCATCTCCCTCTCCTCTCCACAGATGGGACAGTATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000221988-'4-13,'4-12,5-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0408311=Abhydro_lipase=WD(100=52.5)
A:
PF0208910=Palm_thioest=FE(19.0=100)
C2:
PF0208910=Palm_thioest=FE(11.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGGGTCCTGCTTCTGTTG
R:
CTCCATACTGTCCCATCTGTGG
Band lengths:
245-399
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development