HsaEX0048756 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137462179-137463531:-
Coord C1 exon
chr9:137463415-137463531
Coord A exon
chr9:137462685-137462833
Coord C2 exon
chr9:137462179-137462331
Length
149 bp
Sequences
Splice sites
3' ss Seq
CAGGGCTGGCTTCTCCCTAGCGG
3' ss Score
4.54
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
Exon sequences
Seq C1 exon
GCTCCCTGTGGTGGTACGTGCGTGCCAGCATGTCCCTGTCCGGTTACATGCCCCCTCTCTGTGACCCGAAGGACGGACACCTGCTGATGGACGGGGGCTACATCAACAACCTCCCAG
Seq A exon
CGGATGTGGCCCGGTCCATGGGGGCAAAAGTGGTGATCGCCATTGACGTGGGCAGCCGAGATGAGACGGACCTCACCAACTATGGGGATGCGCTGTCTGGGTGGTGGCTGCTGTGGAAACGCTGGAACCCCTTGGCCACGAAAGTCAAG
Seq C2 exon
GTGTTGAACATGGCAGAGATTCAGACGCGCCTGGCCTACGTGTGTTGCGTGCGGCAGCTGGAGGTGGTGAAGAGCAGTGACTACTGCGAGTACCTGCGCCCCCCCATCGACAGCTACAGCACCCTGGACTTCGGCAAGTTCAACGAGATCTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX2-9/14=8-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0173417=Patatin=FE(23.4=100)
A:
PF0173417=Patatin=PD(2.4=8.0)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CATGTCCCTGTCCGGTTACATG
R:
GCAGATCTCGTTGAACTTGCC
Band lengths:
242-391
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development