HsaINT0123718 @ hg38
Intron Retention
Gene
ENSG00000087157 | PGS1
Description
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:HGNC:30029]
Coordinates
chr17:78414879-78419675:+
Coord C1 exon
chr17:78414879-78415027
Coord A exon
chr17:78415028-78419545
Coord C2 exon
chr17:78419546-78419675
Length
4518 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
3' ss Seq
TGTCTGTTCCTCTTCCTCAGGAG
3' ss Score
10.65
Exon sequences
Seq C1 exon
GCCTCTGGCTGTACCTGGCAGGGAGCAGCCTGCCCTGTCTCACGCTGATTGGCTCTCCTAATTTTGGGTACAGGTCAGTTCACCGGGACCTGGAGGCCCAGATTGCGATCGTGACGGAGAACCAGGCCCTGCAGCAGCAGCTTCACCAG
Seq A exon
GTTGGTCGCAGCAAGTGGGATTTCCCAGGGCGCTGAGGGTGTGGCTGGGGGCCCAGGCTCACCCGTGCTGTGGGGCTGCCCTGAGAGCTGTTTCCTGAGGCAACGAGTGAGACTCAGAGCAGAGCAAGAAAGACTCTGGGTCTCCAAGAGTGCAGTGATGGGTGGCTGAGCCTTGGAAGATCATGCCTGTGACTTCCCAGACGCGTTGCACCCCACGTCCTGGGGACTTTTTCTTTCTCTGCACTAGGGGAGACCACCATTTTCTCCCTGGGACCTTTTCCTTTTAAGACAAAGGGTCAACTGTTAAAGGTTCGGCATTGGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCAGGTGGGTCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCACCTTTACTAAAAATGCAAGAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAAGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAATAAAAGGGTTCAACAGTGGTTTCGGCCCTCGTTTGATAATAGTAGCCCATTTTCTCTTTGAGGGAGATAAAAGAAGGTTACCAGGAGTTGGTGAATGCTTCGGGATGACCCTCTATTTGATGACCTGTGACAGTGTGGTTAGACTTTTGAAATGGGAGCGTGTTACCCTTTTGTCTGAGACCTCGATGGTGCCTTGGGCTCATGAATTCGTGACCTTTGCAATAACACTTTTCCATGGAAGGCACCAACTTCCCTTTTCCATTCCTGGAGATGCAGATAACACTGCCGCAGGCCAGAGCCCAGAGGCATCGGACGGTAACTTTGTGAAGCTTTTATGCTCCAGGGTTTGGGAATAACTGTTGCAAAATTGTCAGAGCCTTTGTTGATGGACGAGGAAATGGTCACTGATGTGTTCCCTGGGATCTGTCCTCCTGCAGCCTGGGAATCTTGTCAGTGACTGATTGATTGGGGCCTTGGTGCCAGGAAAGGCTTCACGACCACGACAGGCGCAAGAGGAAGTGAAGCGGTCATCCTCTGGGTGGGCCAGTGGGGTAATGGGTTTGCTCAGGTTTCTTCCTACAGTGAGGTTTACAGCAAATGACTGAGGAAGCCCCCACAAGCTGAGAGATTCCAGTAATAGGGTGACAAGCTGGCCTTGGAGCCAGGCTAGTGGGAAAGACCTGAGCCTGCAGCTTTCAACAGCGGGCTTTCCTGGACTTCTACTTCAATTGCAGAGAGCCGTTCGCAGAGACTTCCACTGTAGCTCTGTGCCAGGGCGGTAGAGAGTCCTTGGTGACTTTGGCCAGGGGCCAGGATGGGTTCTGCGTGGATCTGAGTTGCTTGGGGGAGCAAGTCCTCCAGGCCTGTGCCTGGGGTCCTGGTACTGACCGTCCTCCCCCACTGCCCTAGTAAGGGCACTGAACCCACATCCTGGATCTTGAGAAAAGCTGGGGCCGCCTGTGGTTAGCAGCTGCTTTCTCAAATGACATATTTGGGATATTTTCTTTTTCTTCCCAAACCTGAATCTCAGGGGCTTTTGCCTGTGGGAGGGTGGAGGGTGGTAGGTCTGCTACTGTAGCTCTTCCATTCTTTAGGGATAGACTGATTTCTCTGCCTGTGAAACGCAGAAATATGTTTCCAGATAATTCCACCTATGCTTATATACTGGGACGGCAGCTGCTCTCCTGAGCCCTACAGTGCCCGGTCCCTAGAGGCCAAATCCTGCTGGGACTGCCCAGCCTCTAGCCTCCCCACAACCCAGAAAGTCCCTAAAGCCCCAGCCACCGTGGGCTCCCTGCTCTCTGAAGCTGTCTCTGGAGATCTGCTTGGGAATTCAGGGAGGGGCCCTCCTATTCATGTCACATTGGGCACTGGGAATGGGGAGATATTTTTATCAGAATCTGAAGCCCCTCCCTCCACTTAGTACATACAATAAACACTGAAAGCTTCCTGGTTTTGTTCAGGGAACACAGTTTACCACTTGTGACCCAAGAAAGACTCCCTCGAACAGCGTCGTAACCTCGTCAGCTGACTTCCTTCTCCATCCCTGTTGTGGAGTCTGTGAGGAAACCTAAGTGTTTCTGGTAATTTAGTTGCAATCTTGGCCGGGTATTCATTTGAAGACACAAAGCTGGAGCCAGGTCTGTGGAGACTCCTGCAAACCAGCCCCCTGAGACCAGAGCTGGCTCTTCCATCAGGCACGTCCAGCCAGGGATTGGGACCTCAGCAGCAATTAGGAGGCCCCATGTCTGTGACACGCGGGGCTGCGGGGCTGCTCAGTTGGGAGTGTGGCATGGACCCACGATGGGGCCCACTGAGCATGGGACGGGGGCAGGGGGTAATGAAGTCGGGGCCTGGCTTTCCCCAGCTCTTGATGGGAAAAGCCAAGGCCACATTCTGTAGGGTTCTGGAGTGTGGGGTGACCCCTTCCTGACCCCCCGGGGCAGAGGAGTTGCCAGGGCTGTGTCCTCCCTCCCGGCCTCCTGAGCAGGGAGTGTGCCACTTTGAGTGGCACAGGCCACCGCTGCTGCTGTCCTGCGGTTGGCACTGTGCTTCTGTGGTCATCACCTGTGGTCCTCACGGCGGTGTGGATGTAGGTATGGCCCGGACATTACGGTGGAGAGCGCTGGAGACTCAGTGGAGGAGAGAGGGCTAGAGTCGCGGTGCAACTGTGTGAGCGCTGCCAGGCGCCCCACTGAGGACACTGAGGAGAGAGCACTTGGAGGGCAGACTCTTACAAGAGAAGCTTTTCAAAGATCCCAAACACCATTTCGGACAAAGCATATATAAATTTTTTTTTTTTTTTTTTTTTAATGGAGTCTTGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATGGGTGCATGCCATCACGCCCGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTAATCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGCATATATAAATGTTTTTAAACCTGTTTTTAAATATGAAATTAACATGTGTTCACTATAAAAATTAAGAAAAACGGAAAGAAACTAACCCTTTCTGTAGGGAAAACCACTGAAGCCATTGTGATGATTGGCCGCCTGCCTTCTGTGTACAGCGCACGGAGGCACAGCTTTAAGCATCAGATGACGATTCTGTCGTGTGTGTGTATTTCGTGTCCAGCTTCCTTTGCCTGCCGATTTCTGGGCACTTTCCCATATGATTAGGTCAACACTCTTCTCATGGCGAAAACTGGTTTGTCATATGAGTTGTTAATAAGTTCGTGGTGAATGCTGGTTTGTCATATGAGTTGTTAATAAGTTGACTGTTGGACATTTAGGTGGTTTCCAGTTTTTCCTTGTTATAAATATTGTGATAAATATCTGTATATAAAAATCTTAGCGCATAGTGATTTTCTTGGGGTAAGCTCTTGCAAAGGGAGCTTTATAAGGTTCTTGATACCTGTTGCCAGAGCTCACTCTAGAGGATGACTTGTCCCCCTTGCCCTCAGCACTAAGCGTTCATCAGTGTGGGGGATAATGACATCACAGATGTCATTGGCACAAATTGGCTTTGTGCCAATTTGATAGAAGAAAAACTGTGTCTCATTTAAAAAATACCTCATTTTAATATGCATTACCTCGTTTAGTGAGGGTGAACATTTAAAATATTTTTTCCACCAGTTATATTTCTTCAACTCTAAATTGAAGAAATTTAGAGTCCTTTACATGTCTTGGTCTTAAAAGCCTTTTGGGTTTTTTTTTTGAGACAAGGTCTCACTTTGCCACCCAGGCTGGATTGCAGTGGCAGCATCACAGCTCATGCAGCTTTGACCTCCCGGGCTGAAACCCTTGCCTACCTCAGCCTCCCAAGTTGCTGGGGCTACAGGCACACACCACCATACCCGGCTAATTTTTAGAATTTTTTCATAGAGATGATGTCTTCCCTGTGTTGCCCAGGGTGGCCTCAGACTCCTGAGCTCAAGCGATCCTCCTGTCTCAGCCTCCAAAAGTGTTGGGATTATAGGCTTTAGCCACTGTGCCCAGCCCTTAAAAGTCTTTAGGAACACGGCTTCTTAGCTTTTCTAAGGAATGTTTGACAGTGGCAACTTGTAGGGCCTGGCCTTGCCTGCCACCAGAGCACCCTGGGAATCTCTGGGCCAGGTAGACATGGGAAGTCAGGGTTTTCTGGGCTGGCCTGAGGGGCTGGGCTGGGGCCAGCCGGCCATGTGGTGTGGTGCTGGAGGGGACTCCTCACTATTCCTGTCTGTTCCTCTTCCTCAG
Seq C2 exon
GAGCAAGAGCAGCTCTACCTGAGGTCAGGTGTGGTGTCCTCTGCCACCTTCGAGCAGCCGAGTCGCCAGGTGAAGCTGTGGGTGAAGATGGTGACTCCACTGATCAAGAACTTCTTCTGAGGACAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087157:ENST00000262764:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.033 A=NA 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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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