HsaINT0124818 @ hg38
Intron Retention
Gene
ENSG00000007541 | PIGQ
Description
phosphatidylinositol glycan anchor biosynthesis class Q [Source:HGNC Symbol;Acc:HGNC:14135]
Coordinates
chr16:574066-575970:+
Coord C1 exon
chr16:574066-574763
Coord A exon
chr16:574764-575838
Coord C2 exon
chr16:575839-575970
Length
1075 bp
Sequences
Splice sites
5' ss Seq
CCGGTAGGT
5' ss Score
9.39
3' ss Seq
TCCTCTCCACTCCCACGCAGAGT
3' ss Score
7.54
Exon sequences
Seq C1 exon
CCTCCCGGCATGGTGCTCAAGGCCTTCTTCCCCACGTGCTGCGTCTCGACGGACAGCGGGCTGCTGGTGGGACGGTGGGTGCCGGAGCAGAGCAGCGCCGTGGTCCTGGCGGTCCTGCACTTTCCCTTCATCCCCATCCAGGTCAAGCAGCTCCTGGCCCAGGTGCGGCAGGCCAGCCAGGTGGGCGTGGCCGTGCTGGGCACCTGGTGCCACTGCCGGCAGGAGCCCGAGGAGAGCCTGGGCCGCTTCCTGGAGAGCCTGGGTGCTGTCTTCCCCCATGAGCCCTGGCTGCGGCTGTGCCGGGAGAGAGGCGGCACGTTCTGGAGCTGCGAGGCCACCCACCGGCAAGCGCCCACTGCCCCCGGTGCCCCTGGTGAGGACCAGGTCATGCTCATCTTCTATGACCAGCGCCAGGTGTTGCTGTCACAGCTACACCTGCCCACCGTCCTGCCCGACCGCCAGGCTGGAGCCACCACTGCCAGCACGGGGGGCCTGGCTGCCGTCTTCGACACGGTAGCACGCAGTGAGGTGCTCTTCCGCAGTGACCGCTTTGATGAGGGCCCCGTGCGGCTGAGCCACTGGCAGTCGGAGGGCGTGGAGGCCAGCATCCTCGCGGAGCTGGCCAGGCGAGCCTCGGGACCCATTTGCCTGCTGTTGGCCAGCCTGCTGTCGCTGGTCTCAGCTGTCAGTGCCTGCCG
Seq A exon
GTAGGTGTCCCGGGACAGGCAGGTGGCAAAGAGTGGGGTCCCATGAGTGCTGGCCCATCCCTTTGTCTGCAGTGGGCACAGAGGCCCAGATGCGCTCTTCCTGGGCCCGGGCCCCCTCCCACTCCTGCAGCCCGGGCTTTGGCCCCATCCTGCTCTCCCAACCCTCGCCTCTCAGAGGGTGTCCCTCACCCCTGGGGTAGAGCCAGGTCTCTGGGCAGCCTCAGGGATTGCCAGGGGCCCTCCCAGAAGGTGTAGAGGGTGAACCTCAGTGGCTTAGGTCCCTGAAAGAGAAATCAGAAGGTGAGCACAGACATGACTACTGCTGCCTGGGGGTGCTCCTGAGGGCACACAGGCCCGCTGGCCTCCCTGTAGCCCTGCCTGTGCCCCCAGCAGGCCTCTGGACACTGCAGCGCTCATGGGCTGTGGGGGTGTCATCCACTTGCTGGCCCCGTGTGCCTGGGGGAGTGGTCTACAGGCCCTGCTTCTCTCCACAATCACAGGTGCTGCTGGCCAAGGGTCAGTTGAAGCCCAAGGGCCCTGAGGGGCACGGGGGTAGCCCCGAGCTGTGGCTGAGAACAGAGGGCCCCCTTCCACAGGGGACCTCATCTGCCTGGCGGAGGTGCCCCATGGGGAGCAGCTAGGGGTCACCTGCAGTTGCCCCCTGCCTTAGACCCGGGGGTGCATACTCTGGAAGCCTGGGGTGAGAAGCTAGGCCAGCCCAGGAGACCCCGGGCAGCTTTCTGGGCCCTGTCGGCGGGGCGAGGCCCTGGGCCCGTGGGAGTTGCTGCTGGCTGGCAGGCGCTTCTTGGCACCGGCTCTGGGAGCATGTGGTGACCAGGTGGCCCGGGGTCAGCACCTGCGAGGAGGCCAGGCTCCGTGTTAGTCACGTGCACTGTGAGGTGGGCGCGTTGAGCGCTGCCTACCACCACCTGGGCCACCGAGGGCCCCTCCCACCTGCCCCCTGTCCTGCTGAGCTCAGGAGTGTGGCCTGGGTGTTTGTGGTCCCCTGCACAGTGGGGGACGGTGGGAGGAGGATCTGGAGAGGGACACATCACTCCTCTCCACTCCCACGCAG
Seq C2 exon
AGTGTTCAAGCTCTGGCCCCTGTCCTTCCTCGGGAGCAAACTCTCCACGTGCGAACAGCTCCGGCACCGGCTGGAGCACCTCACGCTAATCTTCAGTACACGGAAGGCGGAGAACCCTGCCCAGCTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007541:ENST00000321878:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.037 A=NA C2=0.076
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0502410=Gpi1=PU(0.1=0.0)
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:
CATCTTCTATGACCAGCGCCA
R:
GAGAGTTTGCTCCCGAGGAAG
Band lengths:
351-1426
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