HsaEX0048755 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137464340-137484736:-
Coord C1 exon
chr9:137484587-137484736
Coord A exon
chr9:137467430-137467473
Coord C2 exon
chr9:137464340-137464456
Length
44 bp
Sequences
Splice sites
3' ss Seq
TGTGTCCCTGGCTGGTGTAGAGG
3' ss Score
6.07
5' ss Seq
GCGGCATCC
5' ss Score
-3.96
Exon sequences
Seq C1 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
Seq A exon
AGGCTGTGCCCAGGTGGGCGTTCTCAAGGCCTTGGCGGAGTGCG
Seq C2 exon
GGCATGACGTCCTTGATGAAGGCCGCGCTGGACCTCACCTACCCCATCACGTCCATGTTCTCCGGAGCCGGCTTCAACAGCAGCATCTTCAGCGTCTTCAAGGACCAGCAGATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX2-5/14=C1-6
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.090 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0173417=Patatin=FE(31.1=100)
C2:
PF0173417=Patatin=FE(22.8=100)
Main Skipping Isoform:
ENST00000406427fB22947
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGCCCGTGTCAGAGGAAG
R:
CGGAGAACATGGACGTGATGG
Band lengths:
136-180
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