Special

HsaINT0143234 @ hg19

Intron Retention

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:14173]
Coordinates
chr16:837354-837744:-
Coord C1 exon
chr16:837556-837744
Coord A exon
chr16:837478-837555
Coord C2 exon
chr16:837354-837477
Length
78 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
3' ss Seq
TGGACTCTGTCCCACTCCAGGTT
3' ss Score
8.64
Exon sequences
Seq C1 exon
GCCGGCCATGGAGCCAGGCAGCGTGGAGAACCTGTCCATCGTGTACCGGAGCCGCGACTTCCTGGTGGTCAACAAGCACTGGGACGTTCGCATTGACAGCAAGGCGTGGCGGGAGACTCTGACCCTGCAGAAGCAGCTGCGGTACCGCTTTCCCGAGCTGGCCGACCCTGACACCTGCTACGGGTTCAG
Seq A exon
GTAGGGGGGGCGGCCGGAGCCCCACGGTGGCGTCTGTGGAGGAAAGTGGCTCAGACTCTGGACTCTGTCCCACTCCAG
Seq C2 exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376-RPUSD1:NM_058192:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

C1:
PF0160011=Corona_S1=PU(45.5=98.4),PF0084917=PseudoU_synth_2=PU(26.5=72.1)
A:
NA
C2:
PF0160011=Corona_S1=FE(31.1=100),PF0084917=PseudoU_synth_2=FE(24.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGACTCTGACCCTGCAGAA
R:
CTCCTTGAAGCACCTGTACGC
Band lengths:
172-250
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