Special

HsaEX0046868 @ hg19

Exon Skipping

Gene
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:30029]
Coordinates
chr17:76395429-76400170:+
Coord C1 exon
chr17:76395429-76395618
Coord A exon
chr17:76396758-76396936
Coord C2 exon
chr17:76399649-76400170
Length
179 bp
Sequences
Splice sites
3' ss Seq
TGCATCTTCCCTCCCTGTAGTGC
3' ss Score
8.97
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
GCCGGAAGAACTCCCGCACAATGCTGCTCCCACTCCTGCGGAGGTTCCCAGAGCAGGTCCGAGTCTCCCTCTTTCACACGCCGCACCTCCGTGGGCTGCTTCGGCTCCTCATCCCTGAGCGCTTCAACGAGACCATCGGCCTCCAGCACATTAAGGTGTACCTCTTCGACAACAGCGTCATCTTGAGCGG
Seq A exon
TGCAAACCTGAGTGACTCCTACTTCACCAACCGCCAGGACCGCTACGTGTTCCTGCAGGACTGTGCGGAGATTGCCGACTTCTTCACGGAGCTGGTGGACGCGGTGGGGGATGTGTCCCTGCAGCTGCAGGGGGACGACACGGTGCAGGTGGTGGATGGGATGGTGCATCCTTACAAAG
Seq C2 exon
GGGACCGGGCCGAGTACTGCAAGGCAGCCAATAAGAGGGTCATGGATGTGATCAACTCAGCCAGGACCCGCCAGCAGATGCTGCATGCCCAGACCTTCCACAGCAACTCTCTTTTGACCCAGGAAGATGCAGCAGCTGCTGGGGATCGCAGACCAGCCCCTGACACCTGGATTTATCCGCTGATTCAGATGAAGCCCTTCGAGATTCAAATCGATGAGATTGTCACTGAGACCCTGTTGACTGAGGCGGAGCGCGGGGCAAAGGTCTACCTCACCACTGGCTATTTCAACCTGACCCAGGCCTACATGGACCTGGTCTTGGGCACTCGGGCTGAGTACCAGATCCTGCTGGCCTCACCAGAGGTGAATGGCTTCTTTGGGGCCAAGGGGGTGGCCGGCGCCATCCCAGCGGCCTATGTGCACATCGAGCGACAGTTCTTCAGTGAGGTGTGCAGCCTGGGACAGCAGGAGCGGGTCCAGCTTCAGGAGTACTGGCGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157_MULTIEX2-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.018
Domain overlap (PFAM):

C1:
PF130911=PLDc_2=FE(39.4=100)
A:
PF130911=PLDc_2=PD(26.9=57.4),PF068406=DUF1241=WD(100=73.8)
C2:
PF130911=PLDc_2=PU(67.1=65.1)


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:
CAGGTCCGAGTCTCCCTCTTT
R:
GAGTTGCTGTGGAAGGTCTGG
Band lengths:
246-425
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