Special

HsaEX0055699 @ hg19

Exon Skipping

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:14173]
Coordinates
chr16:837354-838383:-
Coord C1 exon
chr16:838256-838383
Coord A exon
chr16:837556-837744
Coord C2 exon
chr16:837354-837477
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_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

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(45.5=98.4),PF0084917=PseudoU_synth_2=PU(26.5=72.1)
C2:
PF0160011=Corona_S1=FE(31.1=100),PF0084917=PseudoU_synth_2=FE(24.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
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