HsaEX6064317 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137484587-137515519:-
Coord C1 exon
chr9:137515379-137515519
Coord A exon
chr9:137501650-137501727
Coord C2 exon
chr9:137484587-137484736
Length
78 bp
Sequences
Splice sites
3' ss Seq
GAAGTCTGCTCTGTTTTTAGGAC
3' ss Score
9.2
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ATCACGGGGGCGGCCGCCCGGCAGCTGCTGGGCCCCTGCTGAAGAGGAGCCACTCCGTCCCCGCGCCTTCCATTCGCAAACAGATCTTGGAGGAGCTGGAGAAGCCCGGGGCAGGTGACCCTGACCCTTCGGCCCCACAAG
Seq A exon
GACTCATCTCTGTTGGATGGCCGGGTGGCGCTTCTGCACGTTCCTGCAGGCACGGTGGTGTCAAGGCAGGGAGACCAG
Seq C2 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX4-4/12=C1-C2
Average complexity
C3
Mappability confidence:
92%=100=92%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.848 A=0.000 C2=0.090
Domain overlap (PFAM):
C1:
NO
A:
PF0002724=cNMP_binding=PU(16.3=57.7)
C2:
NO
Main Skipping Isoform:
ENST00000406427fB22952
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCTTCCATTCGCAAACAGA
R:
CTTCCTCTGACACGGGCATCA
Band lengths:
177-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains