Special

HsaEX0046860 @ hg38

Exon Skipping

Gene
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78414879-78419675:+
Coord C1 exon
chr17:78414879-78415027
Coord A exon
chr17:78417102-78417335
Coord C2 exon
chr17:78419546-78419675
Length
234 bp
Sequences
Splice sites
3' ss Seq
AGCTTCCTGGTTTTGTTCAGGGA
3' ss Score
6.39
5' ss Seq
CAGGCACGT
5' ss Score
2.9
Exon sequences
Seq C1 exon
GCCTCTGGCTGTACCTGGCAGGGAGCAGCCTGCCCTGTCTCACGCTGATTGGCTCTCCTAATTTTGGGTACAGGTCAGTTCACCGGGACCTGGAGGCCCAGATTGCGATCGTGACGGAGAACCAGGCCCTGCAGCAGCAGCTTCACCAG
Seq A exon
GGAACACAGTTTACCACTTGTGACCCAAGAAAGACTCCCTCGAACAGCGTCGTAACCTCGTCAGCTGACTTCCTTCTCCATCCCTGTTGTGGAGTCTGTGAGGAAACCTAAGTGTTTCTGGTAATTTAGTTGCAATCTTGGCCGGGTATTCATTTGAAGACACAAAGCTGGAGCCAGGTCTGTGGAGACTCCTGCAAACCAGCCCCCTGAGACCAGAGCTGGCTCTTCCATCAG
Seq C2 exon
GAGCAAGAGCAGCTCTACCTGAGGTCAGGTGTGGTGTCCTCTGCCACCTTCGAGCAGCCGAGTCGCCAGGTGAAGCTGTGGGTGAAGATGGTGACTCCACTGATCAAGAACTTCTTCTGAGGACAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX1-12/16=11-13
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.033 A=0.056 C2=0.048
Domain overlap (PFAM):

C1:
PF130911=PLDc_2=FE(28.8=100)
A:
NA
C2:
PF130911=PLDc_2=PD(2.9=12.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCTGGCTGTACCTGGC
R:
TCTGTCCTCAGAAGAAGTTCTTGA
Band lengths:
276-510
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development