HsaEX0048747 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137515379-137520043:-
Coord C1 exon
chr9:137519917-137520043
Coord A exon
chr9:137516383-137516467
Coord C2 exon
chr9:137515379-137515519
Length
85 bp
Sequences
Splice sites
3' ss Seq
CATTTCTTTCACTGGATTAGGTC
3' ss Score
7.27
5' ss Seq
TAGGTAAGG
5' ss Score
9.31
Exon sequences
Seq C1 exon
GAGAGCCAGGCCATCCCTCTCGTGTCTGTAGCCAGTGTGGCTGCCGGGAAGGCCAAGAAGCAGGTGTTCTATGGCGAAGAAGAGCGGCTTAAAAAGCCACCGCGGCTCCAGGAGTCCTGTGACTCAG
Seq A exon
GTCCATGTGACTTGATGGGGCAGCAGCTGTCCTGGATGAGGTCTTGGCAGAGACCAGGGCCGGGGGTGCTCATGGGCCTCTGTAG
Seq C2 exon
ATCACGGGGGCGGCCGCCCGGCAGCTGCTGGGCCCCTGCTGAAGAGGAGCCACTCCGTCCCCGCGCCTTCCATTCGCAAACAGATCTTGGAGGAGCTGGAGAAGCCCGGGGCAGGTGACCCTGACCCTTCGGCCCCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX3-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.275 A=0.034 C2=0.848
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000406427fB5343
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
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:
AAGGCCAAGAAGCAGGTGTTC
R:
TCCAGCTCCTCCAAGATCTGT
Band lengths:
179-264
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