HsaEX1028711 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137484587-137493082:-
Coord C1 exon
chr9:137493013-137493082
Coord A exon
chr9:137491626-137492110
Coord C2 exon
chr9:137484587-137484736
Length
485 bp
Sequences
Splice sites
3' ss Seq
AGGCTGTCCTCTCTCACCAGGTC
3' ss Score
10.26
5' ss Seq
AAGGTCACA
5' ss Score
1.86
Exon sequences
Seq C1 exon
GTGGTGACTCGGCTGATTCATCTCTTGGGTGAGAAGATCCTGGGCAGCCTCCAGCAGGGACCTGTGACAG
Seq A exon
GTCCCACATACTCAAGGACTCTGACCCTTTATCTCTGCTGGACAGCATTTGACCCCAGATCCCCTTGCCATTCTGGGAGCTCCTCTCTCCTGCCTTCTGCCTCTGTGCCTGCTGCTCTCTGCCTGGAGCCCTCAGAAGAGCCTGGCTGCTCCCGCGTGTCCTGCATCTCCGTCTCAGCACAGCCTCCCTGGCCTCCCCATCCGCCCAGCACTCTCAGCTCCCTTTCCGCTTCCTTTTTCTTCTCTGTGCTTGTCACCCCCGACACATTGCATGACCTGTCACCTGCCTCTGGCATTGGCGTGTGAGCTGGCTGGGAGCAGGAGCCTGCGTCTGTGTTCACACAGTGACGTGTGCACAGCATTGAACGTCTGTCCAAGAAGCGGATGGATGCACAGAGGGCCACACAGAGGCAGCGAAGTGTGAGCCCCACTCTAGGGTGACCCCATCTTCATCTGAGTTCCTCTGCAAAACCGTTTCCAAATAAG
Seq C2 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX4-10/12=9-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.052 A=0.020 C2=0.090
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000406427fB22953


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTGACTCGGCTGATTCAT
R:
GATGGCGCTGAGGGCATG
Band lengths:
219-704
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains