HsaEX0048742 @ hg38
Exon Skipping
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7541522-7542670:+
Coord C1 exon
chr19:7541522-7541684
Coord A exon
chr19:7541984-7542067
Coord C2 exon
chr19:7542561-7542670
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_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.843 A=0.993 C2=0.982
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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