HsaEX6064315 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137505983-137520043:-
Coord C1 exon
chr9:137519917-137520043
Coord A exon
chr9:137515379-137515519
Coord C2 exon
chr9:137505983-137506083
Length
141 bp
Sequences
Splice sites
3' ss Seq
TACGGCTGCCTCCCCAGCAGATC
3' ss Score
5.3
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
GAGAGCCAGGCCATCCCTCTCGTGTCTGTAGCCAGTGTGGCTGCCGGGAAGGCCAAGAAGCAGGTGTTCTATGGCGAAGAAGAGCGGCTTAAAAAGCCACCGCGGCTCCAGGAGTCCTGTGACTCAG
Seq A exon
ATCACGGGGGCGGCCGCCCGGCAGCTGCTGGGCCCCTGCTGAAGAGGAGCCACTCCGTCCCCGCGCCTTCCATTCGCAAACAGATCTTGGAGGAGCTGGAGAAGCCCGGGGCAGGTGACCCTGACCCTTCGGCCCCACAAG
Seq C2 exon
GGGGCCCAGGCAGTGCCACTTCTGATCTGGGGATGGCATGTGACCGTGCCAGGGTCTTCCTGCACTCGGACGAGCACCCCGGGAGCTCCGTGGCCAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-'18-28,'18-23,21-28=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.275 A=0.848 C2=0.794
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000406427fB22951
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GAGAGCCAGGCCATCCCTC
R:
TTGCTGGCCACGGAGCTC
Band lengths:
227-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains