Special

HsaEX0055698 @ hg19

Exon Skipping

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:14173]
Coordinates
chr16:836827-837477:-
Coord C1 exon
chr16:837354-837477
Coord A exon
chr16:837077-837179
Coord C2 exon
chr16:836827-836928
Length
103 bp
Sequences
Splice sites
3' ss Seq
CGATTCTCCCTCTCCTGCAGCTG
3' ss Score
10.7
5' ss Seq
AGGGTGTGG
5' ss Score
2.35
Exon sequences
Seq C1 exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
Seq A exon
CTGCGGGGGCACATCCAGGAGAGCCGGGTAACCATCAGCCATGCCATTGGCAGGAACAGCACGGAGGGCCGGGCCCACACCATGTGCATCGAGGGCTCGCAGG
Seq C2 exon
GTTGTGAGAACCCAAAGCCAAGCCTCACAGATCTCGTGGTTCTGGAACACGGGCTGTACGCAGGCGATCCTGTCTCCAAAGTGCTGCTGAAGCCGCTCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.029 C2=0.000
Domain overlap (PFAM):

C1:
PF0160011=Corona_S1=FE(31.1=100),PF0084917=PseudoU_synth_2=FE(24.7=100)
A:
PF0160011=Corona_S1=PD(22.0=82.9),PF0084917=PseudoU_synth_2=FE(20.5=100)
C2:
PF0160011=Corona_S1=PD(13.4=53.3),PF0084917=PseudoU_synth_2=PD(16.3=56.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCAGCTGGATTTCTCCACC
R:
CGTGAGCGGCTTCAGCAG
Band lengths:
218-321
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