HsaEX0048746 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137547309-137550534:-
Coord C1 exon
chr9:137550168-137550534
Coord A exon
chr9:137547585-137547659
Coord C2 exon
chr9:137547309-137547396
Length
75 bp
Sequences
Splice sites
3' ss Seq
CCCCATGCTCTCTGCTGCAGGCT
3' ss Score
9.3
5' ss Seq
ATGGTAATC
5' ss Score
4.14
Exon sequences
Seq C1 exon
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGGCTGCTGTTCTGGGTTCCGGGACAGCCACGTGAGGGCTGTTTACAGAGGGAAGGAGGTGGCTCCTAGCAGATGACAGACACTTCTCAAAAGACAGCTTTTCTTCCTGGAGAACAGACTTTTTCAGCAGGATTTTCCTTTCAGTGAAACATAATTTGACTTGAAAGGAACCCAGGGAAAAGTGTCCAGGTGTGAGCATGAGCGGGTAGAGGTGTGCCCTTGTTTGCTTCAGGCTGTCTGCTTTTCGCCCCTGACTGTTTTTTCTGTTTCTGGCCATGGAGGAAGAGAAAGATGACAGCCCACAG
Seq A exon
GCTGACTTCTGCCTGGGCACCGCCCTGCACTCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG
Seq C2 exon
CTGACGGGGATTGCAGTTGGAGCCCTCCTGGCCCTGGCCTTGGTTGGTGTCCTCATCCTTTTCATGTTCAGAAGGCTTAGACAATTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX5-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.403 A=0.000 C2=0.001
Domain overlap (PFAM):
C1:
NO
A:
PF094725=MtrF=PU(22.6=28.0)
C2:
PF094725=MtrF=PD(71.0=73.3)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTCCAGGTGTGAGCATGAG
R:
GATGAGGACACCAACCAAGGC
Band lengths:
181-256
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