HsaEX0048751 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137480312-137484736:-
Coord C1 exon
chr9:137484587-137484736
Coord A exon
chr9:137480960-137481023
Coord C2 exon
chr9:137480312-137480480
Length
64 bp
Sequences
Splice sites
3' ss Seq
ACTGGTGGTGGTGTTTTCAGGCC
3' ss Score
7.02
5' ss Seq
CAGGTGCGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
Seq A exon
GCCCGACCCTGCTGCTGACTAGTGACAACATAAAACGGCGCCTTGGCTCCGCTGCCCTGGACAG
Seq C2 exon
TGTTCACGAGTACCGGCTGTCCAGCTGGCTGGGGCAGCAGGAGGACACCCACAGGATCGTGCTCTACCAGGCAGATGGCACGCTCACACCCTGGACCCAGCGCTGCGTGCGCCAGGCCGACTGCATCCTCATCGTGGGCCTGGGTGACCAGGAGCCCACAGTGGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX2-1/14=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.090 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGCCCGTGTCAGAGGAAG
R:
ATCTGCCTGGTAGAGCACGAT
Band lengths:
148-212
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