HsaEX0048745 @ hg38
Exon Skipping
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7554893-7555763:+
Coord C1 exon
chr19:7554893-7555075
Coord A exon
chr19:7555249-7555367
Coord C2 exon
chr19:7555607-7555763
Length
119 bp
Sequences
Splice sites
3' ss Seq
GACTATCTCCCCCATCCCAGCAT
3' ss Score
5.18
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTG
Seq A exon
CATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAG
Seq C2 exon
GGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444_CASSETTE6
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=0.038
Domain overlap (PFAM):
C1:
NO
A:
PF0173417=Patatin=PU(4.8=20.0)
C2:
PF0173417=Patatin=FE(31.1=100)
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:
GCCCTTAAGCAGCTAGTCCTG
R:
CGCTCCGATGAAAGAGCCAAT
Band lengths:
247-366
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