HsaEX0048740 @ hg19
Exon Skipping
Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7600395-7601159:+
Coord C1 exon
chr19:7600395-7600463
Coord A exon
chr19:7600819-7600906
Coord C2 exon
chr19:7601077-7601159
Length
88 bp
Sequences
Splice sites
3' ss Seq
CAGTGCCGTTCGTCCCTCAGGTG
3' ss Score
9.62
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
GACTCCGGGCTACCAGATCGGCCGTCCAGCTGGAATCAACCGATGGAGGCTCCGCTGCAAACTGGAATG
Seq A exon
GTGCTTGGCGTGATGATCGGGGCCGGAGTGGCGGTGGTGGTCACGGCCGTGCTCATCCTCCTGGTGGTGCGGAGGCTGCGAGTGCCAA
Seq C2 exon
AAACCCCAGCCCCGGATGGCCCCCGGTATCGGTTCCGGAAGAGGGACAAAGTGCTCTTCTATGGCCGGAAGATTATGCGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444-'5-7,'5-6,6-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.156 A=0.050 C2=0.214
Domain overlap (PFAM):
C1:
PF073326=DUF1469=PU(11.8=66.7)
A:
PF073326=DUF1469=FE(56.9=100)
C2:
PF073326=DUF1469=PD(27.5=50.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GACTCCGGGCTACCAGATCG
R:
CTTCCGCATAATCTTCCGGCC
Band lengths:
152-240
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
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)