HsaEX0055699 @ hg38
Exon Skipping
Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14173]
Coordinates
chr16:787354-788383:-
Coord C1 exon
chr16:788256-788383
Coord A exon
chr16:787556-787744
Coord C2 exon
chr16:787354-787477
Length
189 bp
Sequences
Splice sites
3' ss Seq
ACCCACGCGTGGCTCGGCAGGCC
3' ss Score
5.15
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GGGCGGAAGCGCTGCCAGGCGTCCGGAGCGGAGCTTCCAGGGTCTCTGGGTCGCCAGCGCGCGGGCGCGCGGCTGGAGCCGGCGCCGGGCACGGCATCGGGGGCCTGGACTGCACGGCCCGGCAGCAG
Seq A exon
GCCGGCCATGGAGCCAGGCAGCGTGGAGAACCTGTCCATCGTGTACCGGAGCCGCGACTTCCTGGTGGTCAACAAGCACTGGGACGTTCGCATTGACAGCAAGGCGTGGCGGGAGACTCTGACCCTGCAGAAGCAGCTGCGGTACCGCTTTCCCGAGCTGGCCGACCCTGACACCTGCTACGGGTTCAG
Seq C2 exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376-'0-6,'0-3,2-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF0160011=Corona_S1=PU(45.1=98.4),PF0084917=PseudoU_synth_2=PU(28.9=72.1)
C2:
PF0160011=Corona_S1=FE(30.8=100),PF0084917=PseudoU_synth_2=FE(27.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAGCTTCCAGGGTCTCTG
R:
CAATGCCAGGTAAGCCTTGGT
Band lengths:
224-413
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development