Special

HsaEX0046865 @ hg19

Exon Skipping

Gene
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:30029]
Coordinates
chr17:76374735-76394432:+
Coord C1 exon
chr17:76374735-76374889
Coord A exon
chr17:76388557-76388746
Coord C2 exon
chr17:76394333-76394432
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
CGGCGAGTCTCCATGGCGGTGGCGGCGGCAGCTGCGGCGGGACCCGTGTTCTGGAGGCGACTGCTGGGCCTCCTGCCTGGCCGCCCAGGGCTGGCCGCGCTCCTGGGACGCCTGTCCGACCGCCTCGGCAGGAACCGGGACCGCCAGCGCAGGAG
Seq A exon
GTCACCATGGCTGTTATTGGCTCCCTTGCTGTCCCCAGCTGTTCCCCAGGTCACCTCCCCACCTTGCTGCCTGTGTCCAGAAGGCGTGCACCGGTTCCAGTGGATCAGAAACCTGGTTCCAGAATTTGGAGTCTCCAGTTCTCACGTTAGGGTGCTTTCTTCCCCGGCAGAGTTTTTCGAGCTCATGAAG
Seq C2 exon
GTGGACTGCCTGGAAAGTACTCTAGAAAAGTCACTCCAAGCAAAGTTTCCTTCAAATCTCAAGGTCTCCATTCTCTTAGACTTCACGCGGGGCTCACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX1-2/4=C1-4
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.028 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF130911=PLDc_2=PU(0.7=1.9)
C2:
PF130911=PLDc_2=PU(23.8=91.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAGTCTCCATGGCGGTGG
R:
CCCCGCGTGAAGTCTAAGAGA
Band lengths:
244-434
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