Special

HsaEX0046864 @ hg19

Exon Skipping

Gene
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:30029]
Coordinates
chr17:76374735-76388746:+
Coord C1 exon
chr17:76374735-76374889
Coord A exon
chr17:76378745-76378866
Coord C2 exon
chr17:76388557-76388746
Length
122 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTGAGATG
3' ss Score
4.74
5' ss Seq
CAGGTGCCC
5' ss Score
5.77
Exon sequences
Seq C1 exon
CGGCGAGTCTCCATGGCGGTGGCGGCGGCAGCTGCGGCGGGACCCGTGTTCTGGAGGCGACTGCTGGGCCTCCTGCCTGGCCGCCCAGGGCTGGCCGCGCTCCTGGGACGCCTGTCCGACCGCCTCGGCAGGAACCGGGACCGCCAGCGCAGGAG
Seq A exon
ATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGAATACAG
Seq C2 exon
GTCACCATGGCTGTTATTGGCTCCCTTGCTGTCCCCAGCTGTTCCCCAGGTCACCTCCCCACCTTGCTGCCTGTGTCCAGAAGGCGTGCACCGGTTCCAGTGGATCAGAAACCTGGTTCCAGAATTTGGAGTCTCCAGTTCTCACGTTAGGGTGCTTTCTTCCCCGGCAGAGTTTTTCGAGCTCATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX1-1/4=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.028 A=0.238 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF130911=PLDc_2=PU(14.7=35.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
CGACTGCTGGGCCTCCTG
R:
GCACCCTAACGTGAGAACTGG
Band lengths:
253-375
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