Special

HsaEX0046869 @ hg38

Exon Skipping

Gene
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78400677-78415027:+
Coord C1 exon
chr17:78400677-78400855
Coord A exon
chr17:78403568-78404089
Coord C2 exon
chr17:78414879-78415027
Length
522 bp
Sequences
Splice sites
3' ss Seq
TTCTTTCACGTCTTCCCCAGGGG
3' ss Score
9.92
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
Exon sequences
Seq C1 exon
TGCAAACCTGAGTGACTCCTACTTCACCAACCGCCAGGACCGCTACGTGTTCCTGCAGGACTGTGCGGAGATTGCCGACTTCTTCACGGAGCTGGTGGACGCGGTGGGGGATGTGTCCCTGCAGCTGCAGGGGGACGACACGGTGCAGGTGGTGGATGGGATGGTGCATCCTTACAAAG
Seq A exon
GGGACCGGGCCGAGTACTGCAAGGCAGCCAATAAGAGGGTCATGGATGTGATCAACTCAGCCAGGACCCGCCAGCAGATGCTGCATGCCCAGACCTTCCACAGCAACTCTCTTTTGACCCAGGAAGATGCAGCAGCTGCTGGGGATCGCAGACCAGCCCCTGACACCTGGATTTATCCGCTGATTCAGATGAAGCCCTTCGAGATTCAAATCGATGAGATTGTCACTGAGACCCTGTTGACTGAGGCGGAGCGCGGGGCAAAGGTCTACCTCACCACTGGCTATTTCAACCTGACCCAGGCCTACATGGACCTGGTCTTGGGCACTCGGGCTGAGTACCAGATCCTGCTGGCCTCACCAGAGGTGAATGGCTTCTTTGGGGCCAAGGGGGTGGCCGGCGCCATCCCAGCGGCCTATGTGCACATCGAGCGACAGTTCTTCAGTGAGGTGTGCAGCCTGGGACAGCAGGAGCGGGTCCAGCTTCAGGAGTACTGGCGGAGGGGCTGGACGTTCCACGCCAAAG
Seq C2 exon
GCCTCTGGCTGTACCTGGCAGGGAGCAGCCTGCCCTGTCTCACGCTGATTGGCTCTCCTAATTTTGGGTACAGGTCAGTTCACCGGGACCTGGAGGCCCAGATTGCGATCGTGACGGAGAACCAGGCCCTGCAGCAGCAGCTTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157-'22-20,'22-15,29-20
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.024 C2=0.033
Domain overlap (PFAM):

C1:
PF130911=PLDc_2=PD(21.9=57.4)
A:
PF130911=PLDc_2=PU(67.1=65.1)
C2:
PF130911=PLDc_2=FE(28.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAACCTGAGTGACTCCTAC
R:
CAGGGCCTGGTTCTCCGTC
Band lengths:
310-832
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