HsaEX0046865 @ hg38
Exon Skipping
Gene
ENSG00000087157 | PGS1
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78378640-78398351:+
Coord C1 exon
chr17:78378640-78378808
Coord A exon
chr17:78392476-78392665
Coord C2 exon
chr17:78398252-78398351
Length
190 bp
Sequences
Splice sites
3' ss Seq
TTGCATATTTCTTTAACCAGGTC
3' ss Score
8.35
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
AGCGGAAGCGGAAGCGGCGAGTCTCCATGGCGGTGGCGGCGGCAGCTGCGGCGGGACCCGTGTTCTGGAGGCGACTGCTGGGCCTCCTGCCTGGCCGCCCAGGGCTGGCCGCGCTCCTGGGACGCCTGTCCGACCGCCTCGGCAGGAACCGGGACCGCCAGCGCAGGAG
Seq A exon
GTCACCATGGCTGTTATTGGCTCCCTTGCTGTCCCCAGCTGTTCCCCAGGTCACCTCCCCACCTTGCTGCCTGTGTCCAGAAGGCGTGCACCGGTTCCAGTGGATCAGAAACCTGGTTCCAGAATTTGGAGTCTCCAGTTCTCACGTTAGGGTGCTTTCTTCCCCGGCAGAGTTTTTCGAGCTCATGAAG
Seq C2 exon
GTGGACTGCCTGGAAAGTACTCTAGAAAAGTCACTCCAAGCAAAGTTTCCTTCAAATCTCAAGGTCTCCATTCTCTTAGACTTCACGCGGGGCTCACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX1-4/16=C1-6
Average complexity
C3*
Mappability confidence:
94%=100=94%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=0.019 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF130911=PLDc_2=PU(0.7=1.9)
C2:
PF130911=PLDc_2=FE(20.6=100)
Main Skipping Isoform:
ENST00000586510fB22385
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCGGCGAGTCTCCATG
R:
CCCCGCGTGAAGTCTAAGAGA
Band lengths:
251-441
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