HsaEX6064309 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137543724-137547659:-
Coord C1 exon
chr9:137547585-137547659
Coord A exon
chr9:137547309-137547396
Coord C2 exon
chr9:137543724-137543815
Length
88 bp
Sequences
Splice sites
3' ss Seq
GTGTTTCCACTCTCGGCCAGCTG
3' ss Score
6.72
5' ss Seq
TTCGTGAGT
5' ss Score
7.9
Exon sequences
Seq C1 exon
GCTGACTTCTGCCTGGGCACCGCCCTGCACTCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG
Seq A exon
CTGACGGGGATTGCAGTTGGAGCCCTCCTGGCCCTGGCCTTGGTTGGTGTCCTCATCCTTTTCATGTTCAGAAGGCTTAGACAATTTC
Seq C2 exon
GTGACCACACTCCCCAACACCCTTGTGGAGAACACTGCCCTGCCCCGGCAGCGGGCCAGGAAGAGGACCAAGGTGCTGTCTTTGGCCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX5-3/4=2-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.001 C2=0.129
Domain overlap (PFAM):
C1:
PF094725=MtrF=PU(22.6=28.0)
A:
PF094725=MtrF=PD(71.0=73.3)
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:
GCTGACTTCTGCCTGGGC
R:
CTCTTGGCCAAAGACAGCACC
Band lengths:
167-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains