HsaEX0048738 @ hg19
Exon Skipping
Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7621541-7624037:+
Coord C1 exon
chr19:7621541-7621610
Coord A exon
chr19:7621852-7621968
Coord C2 exon
chr19:7623736-7624037
Length
117 bp
Sequences
Splice sites
3' ss Seq
CCCTCACGCCATCCCCGCAGGCT
3' ss Score
9.71
5' ss Seq
CAGGTCAGC
5' ss Score
7.16
Exon sequences
Seq C1 exon
GACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATG
Seq A exon
GCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAG
Seq C2 exon
CGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444-'31-35,'31-33,32-35
Average complexity
ME(33_32-34_33[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0173417=Patatin=FE(13.8=100)
A:
PF0173417=Patatin=FE(23.4=100)
C2:
PF0173417=Patatin=PD(2.4=4.0)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GATATCACCGCCTCAGCCATG
R:
CTTGACAACCTCTAGCTGCCG
Band lengths:
258-375
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)