HsaEX0048750 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137540642-137542801:-
Coord C1 exon
chr9:137542642-137542801
Coord A exon
chr9:137541417-137541580
Coord C2 exon
chr9:137540642-137540722
Length
164 bp
Sequences
Splice sites
3' ss Seq
TTGCTTGTTCTCATTTAAAGCAC
3' ss Score
7.73
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
GGTCCTGGGCCACTTTGAGAAGCCGCTGTTCCTGGAGCTTTGCAAACACATCGTCTTTGTGCAGCTGCAGGAAGGGGAGCACGTCTTCCAGCCCAGGGAGCCGGACCCCAGCATCTGTGTGGTGCAGGACGGGCGGCTGGAGGTCTGCATCCAGGACACT
Seq A exon
CACGCACTCAGCAAACCCTGGGCTTTGTGTGATCATCACCCTGACCTGCAGGGCTCCTGCCAGCTGTGGTCCCGGGAGTGGGCTGTGATCCCACGCCAGCTCCGGCACTGCCTGTCGGGGTTTCTAGACCAAAAGCGCTGCTGGGCAAATTATTTGGTTCTCAG
Seq C2 exon
GACGGCACCGAGGTGGTGGTGAAAGAGGTTCTGGCGGGAGACAGCGTCCACAGCCTGCTCAGCATCCTGGACATCATCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX1-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.005
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PU(34.7=63.0)
A:
PF0002724=cNMP_binding=PD(18.2=14.5)
C2:
PF0002724=cNMP_binding=PD(18.2=22.9)
Main Inclusion Isoform:
ENST00000406427fB5344
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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:
GTCCTGGGCCACTTTGAGAAG
R:
GATGTCCAGGATGCTGAGCAG
Band lengths:
234-398
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development