HsaINT0135714 @ hg38
Intron Retention
Gene
ENSG00000172053 | QARS
Description
glutaminyl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:9751]
Coordinates
chr3:49103345-49103706:-
Coord C1 exon
chr3:49103631-49103706
Coord A exon
chr3:49103410-49103630
Coord C2 exon
chr3:49103345-49103409
Length
221 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
3' ss Seq
CCTTGTGCCTATGCTTCTAGGAG
3' ss Score
7.9
Exon sequences
Seq C1 exon
GTGGAGGCTGCTATTAACAGGCACCGGCCCCAGCTCCTGGTGGAACGTTACCATTTCAACATGGGGCTGCTGATGG
Seq A exon
GTGAGCAGGGCCTGGAACGGGGCTATATTGTTCTCTCTGGTCATGCCTTTTCTTCTGGGCACGAGTGAGAAGGAGGTGGGGGAAGGAACAGGAGTGACTTAAAGTGGTCTGGCTGGGCTCAGGCTCTGGTTCTGGTGGTCAGCCAGGACCTTTCCTTGGGAAAGAGGTGGGGGGAGTACTCTTTTTTGCCTTTCTGCAGCTCCTTGTGCCTATGCTTCTAG
Seq C2 exon
GAGAGGCTCGGGCTGTGCTGAAGTGGGCAGATGGCAAAATGATCAAGAATGAAGTGGACATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172053:ENST00000306125:4
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=0.005
Domain overlap (PFAM):
C1:
PF0455810=tRNA_synt_1c_R1=FE(15.3=100)
A:
NA
C2:
PF0455810=tRNA_synt_1c_R1=PD(14.5=54.5),PF0455710=tRNA_synt_1c_R2=PU(8.6=36.4)


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGGCTGCTATTAACAGGC
R:
CTGCATGTCCACTTCATTCTTGA
Band lengths:
140-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development