HsaINT0124821 @ hg38
Intron Retention
Gene
ENSG00000007541 | PIGQ
Description
phosphatidylinositol glycan anchor biosynthesis class Q [Source:HGNC Symbol;Acc:HGNC:14135]
Coordinates
chr16:578379-578938:+
Coord C1 exon
chr16:578379-578505
Coord A exon
chr16:578506-578784
Coord C2 exon
chr16:578785-578938
Length
279 bp
Sequences
Splice sites
5' ss Seq
TCAGTGAGT
5' ss Score
7.68
3' ss Seq
GGCCTACCCCACCCTGCCAGGCT
3' ss Score
4.17
Exon sequences
Seq C1 exon
CACGTGGCCGAGGAGCTCCAGCATCTGCTGCAGTGGCTGATGGGTGCTCCCGCCGGGCTCAAGATGAACCGTGCACTGGACCAGGTGCTGGGCCGCTTCTTCCTCTACCACATCCACCTGTGGATCA
Seq A exon
GTGAGTGCAGGGCAGGCGGGGGCCCCAGGGACCCCAGAGCTTGCTGAAGAGGGTAGGGACCCAGCCAGACCCCGCCCCCTGTGCCCCCAACTCTGCTCCCCAGCGTCCTGTGTGTGTGAGGCCTGCTGTGCTCAGCTGAGGGCTGGGGCCTGGGCACCTCCCGAGGGCTGACCCCACCCTGCCAGGCTACACGCACCTCATGTCCTGTGTGTGTGAGGGTTGTGCTGGGCCGAGGGCTGGGGTCTGAGCGCCTCCTGAGGGCCTACCCCACCCTGCCAG
Seq C2 exon
GCTACATCCACCTCATGTCCCCCTTCGTGGAGCACATCCTTTGGCACGTGGGCCTCTCGGCCTGCCTGGGCCTGACGGTGGCCCTGTCCCTCCTCTCGGACATTATCGCCCTCCTCACCTTCCACATCTACTGCTTTTACGTCTATGGAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007541:ENST00000321878:5
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:
PF0502410=Gpi1=FE(22.1=100)
A:
NA
C2:
PF0502410=Gpi1=FE(26.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCCGAGGAGCTCCAG
R:
TGGCTCCATAGACGTAAAAGCA
Band lengths:
277-556
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