HsaEX1027816 @ hg38
Exon Skipping
Gene
ENSG00000087157 | PGS1
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78378640-78392665:+
Coord C1 exon
chr17:78378640-78378808
Coord A exon
chr17:78380562-78380687
Coord C2 exon
chr17:78392476-78392665
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTGCATTTTCATTTTTTCAGTGT
3' ss Score
9.1
5' ss Seq
TAGGTGACT
5' ss Score
3.75
Exon sequences
Seq C1 exon
AGCGGAAGCGGAAGCGGCGAGTCTCCATGGCGGTGGCGGCGGCAGCTGCGGCGGGACCCGTGTTCTGGAGGCGACTGCTGGGCCTCCTGCCTGGCCGCCCAGGGCTGGCCGCGCTCCTGGGACGCCTGTCCGACCGCCTCGGCAGGAACCGGGACCGCCAGCGCAGGAG
Seq A exon
TGTTTAACAAAAGACCTGCTCATCTCTGGGTGACGAAGTCAGATGACTTCTACGTCCTGGCATCAAACCACTGAGATTTGGTTTACAGTTTCAAAAAAATGTTCTACCCTTGAAGACAAGATTTAG
Seq C2 exon
GTCACCATGGCTGTTATTGGCTCCCTTGCTGTCCCCAGCTGTTCCCCAGGTCACCTCCCCACCTTGCTGCCTGTGTCCAGAAGGCGTGCACCGGTTCCAGTGGATCAGAAACCTGGTTCCAGAATTTGGAGTCTCCAGTTCTCACGTTAGGGTGCTTTCTTCCCCGGCAGAGTTTTTCGAGCTCATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX1-1/16=C1-4
Average complexity
S
Mappability confidence:
95%=100=95%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=1.000 C2=0.019
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF130911=PLDc_2=PU(14.7=35.9)
Main Inclusion Isoform:
ENST00000262764fB22387
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCGGCGAGTCTCCATG
R:
CTTCTGGACACAGGCAGCAAG
Band lengths:
242-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains