HsaINT0123714 @ hg38
Intron Retention
Gene
ENSG00000087157 | PGS1
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78398252-78399537:+
Coord C1 exon
chr17:78398252-78398351
Coord A exon
chr17:78398352-78399347
Coord C2 exon
chr17:78399348-78399537
Length
996 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
3' ss Seq
TTTTCTCTGTCCGTGTTCAGGCC
3' ss Score
11.62
Exon sequences
Seq C1 exon
GTGGACTGCCTGGAAAGTACTCTAGAAAAGTCACTCCAAGCAAAGTTTCCTTCAAATCTCAAGGTCTCCATTCTCTTAGACTTCACGCGGGGCTCACGAG
Seq A exon
GTAGGTGGCATGCAAGCCTGGCCCCTCCTGCTTCCTGTGTCAGATCCTCAGTCCCAAGAGGGGTTACTGTCACCCCCTCATCCCCAGGCAGAGTCAAGGCTATTTGAAGATCATCCAAGCTGGCCCAGGGCTGCCTGATTGTGTGAGTTAGGATTTTTTTCTTCAGCAAGTGACTGAAAGCCCAACTAAAAACAGCTTAGGCAGGAGCCGAGTGCAGTGGCATGCCCTGTAGTCCCACTTGCGTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCAGGAGTTTGAGTCCAGCCTGGGCAACATAGCCAGACTTTGTCTCATGAAAAACTGCCTTAGGCAAAAAGACTTTTTGTGGACTCCTGTGACTGATCTGCTTTGGGTGGCTTGTGATTTGGGGTTTGGCCGTGTCACCAGGATTCATCCCCTAGCTGTTTCCTTTGGGCTGGCTTCCTTCTCAGGCTCTGTGTGGTGGCCCCTGGTGGCTTAGGCTTGTCTCCCCATGACACCTTGTCTTTTGGAAGAGTCTGATTCCATGAGAATCGGGTCAAAGCTCCTGACTGGCCTGACGGTGGCATGCCCAGCTGGGAGCTTGGAGTGTGCCGAGTAGCCCAGCCCAGGCCTGCGTGCTCCCTCATGGAGCTGGGGGTGAGGGGCAAGGTGGGTAGGGTCGTCTTCACCCAGAGCAGAAATGCTGCGAGTGGGTGGGGTAGTGCCCCAGGAGAAGGTTGGGTGCAGTTACCAGGAGAAGGGTGAATGGGTGCTGTGTGGCAAGAAGAGCAGGCGTCTGCCACGCTGAGGACTTCAGGCCTGAGACATGGCCAGCATGCAGGACAGAGGTTGGCCTGGAAGTCCTCTGGCTAGGAGTAGCCCCAGCTGGTGTGACTGATTCAGGTGGACGGCACAGGTGAAGGCGAGGCCACGTGGAGGTGGCTCCTCATTGGGGGCAGGACGCCTTCCTGTTGTGAGTCAGGTGCCGTTTTCTCTGTCCGTGTTCAG
Seq C2 exon
GCCGGAAGAACTCCCGCACAATGCTGCTCCCACTCCTGCGGAGGTTCCCAGAGCAGGTCCGAGTCTCCCTCTTTCACACGCCGCACCTCCGTGGGCTGCTTCGGCTCCTCATCCCTGAGCGCTTCAACGAGACCATCGGCCTCCAGCACATTAAGGTGTACCTCTTCGACAACAGCGTCATCTTGAGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157:ENST00000262764:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF130911=PLDc_2=FE(20.6=100)
A:
NA
C2:
PF130911=PLDc_2=FE(39.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACTGCCTGGAAAGTACTCT
R:
CGCTCAAGATGACGCTGTTGT
Band lengths:
288-1284
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