Special

HsaEX0048742 @ hg19

Exon Skipping

Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7606408-7607556:+
Coord C1 exon
chr19:7606408-7606570
Coord A exon
chr19:7606870-7606953
Coord C2 exon
chr19:7607447-7607556
Length
84 bp
Sequences
Splice sites
3' ss Seq
TGAACATGTGTCTCCCCCAGGGG
3' ss Score
10.31
5' ss Seq
CAGGTTTGG
5' ss Score
5.63
Exon sequences
Seq C1 exon
GAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAG
Seq A exon
GGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAG
Seq C2 exon
GCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.855 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTCCAAGAGAATGGTCAGC
R:
CTGCAGGGACACGGAGATCC
Band lengths:
171-255
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