HsaEX6064309 @ hg19
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140441282-140442111:-
Coord C1 exon
chr9:140442037-140442111
Coord A exon
chr9:140441761-140441848
Coord C2 exon
chr9:140441282-140441361
Length
88 bp
Sequences
Splice sites
3' ss Seq
GTGTTTCCACTCTCGGCCAGCTG
3' ss Score
6.72
5' ss Seq
TTCGTGAGT
5' ss Score
7.9
Exon sequences
Seq C1 exon
GCTGACTTCTGCCTGGGCACCGCCCTGCACTCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG
Seq A exon
CTGACGGGGATTGCAGTTGGAGCCCTCCTGGCCCTGGCCTTGGTTGGTGTCCTCATCCTTTTCATGTTCAGAAGGCTTAGACAATTTC
Seq C2 exon
GACAAGCACAGCCCACTCCTCAGTACCGGTTCCGGAAGAGAGACAAAGTGATGTTTTACGGCCGGAAGATCATGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-'1-4,'1-2,2-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF058086=Podoplanin=PU(22.5=36.0),PF041569=IncA=PU(6.8=40.0),PF094725=MtrF=PU(22.6=28.0)
A:
PF058086=Podoplanin=FE(72.5=100),PF041569=IncA=FE(19.7=100),PF094725=MtrF=PD(71.0=73.3)
C2:
PF058086=Podoplanin=PD(0.1=0.0),PF041569=IncA=FE(17.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGACTTCTGCCTGGGC
R:
CTTCCTCATGATCTTCCGGCC
Band lengths:
155-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)