HsaEX0048740 @ hg38
Exon Skipping
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7535509-7536273:+
Coord C1 exon
chr19:7535509-7535577
Coord A exon
chr19:7535933-7536020
Coord C2 exon
chr19:7536191-7536273
Length
88 bp
Sequences
Splice sites
3' ss Seq
CAGTGCCGTTCGTCCCTCAGGTG
3' ss Score
9.62
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
GACTCCGGGCTACCAGATCGGCCGTCCAGCTGGAATCAACCGATGGAGGCTCCGCTGCAAACTGGAATG
Seq A exon
GTGCTTGGCGTGATGATCGGGGCCGGAGTGGCGGTGGTGGTCACGGCCGTGCTCATCCTCCTGGTGGTGCGGAGGCTGCGAGTGCCAA
Seq C2 exon
AAACCCCAGCCCCGGATGGCCCCCGGTATCGGTTCCGGAAGAGGGACAAAGTGCTCTTCTATGGCCGGAAGATTATGCGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444-'7-13,'7-11,9-13=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.086 A=0.030 C2=0.214
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTCCGGGCTACCAGATCG
R:
CTTCCGCATAATCTTCCGGCC
Band lengths:
152-240
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