Special

HsaINT0143235 @ hg38

Intron Retention

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14173]
Coordinates
chr16:787077-787477:-
Coord C1 exon
chr16:787354-787477
Coord A exon
chr16:787180-787353
Coord C2 exon
chr16:787077-787179
Length
174 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
3' ss Seq
CGATTCTCCCTCTCCTGCAGCTG
3' ss Score
10.7
Exon sequences
Seq C1 exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
Seq A exon
GTAAGACCTGGTCAGTCCTGGGGTGGGGCGTGGGGACTCAGGATTCCCACCCCACTTGGGCAGCCCTGGCTCAGAGCCTCCCACCACGCTCTACGTGGTTGCTTGGTGTTAGGTGGGCTCCCCGGCAGCACTGGGCTGCCCCGTGAACTGCGTGCGATTCTCCCTCTCCTGCAG
Seq C2 exon
CTGCGGGGGCACATCCAGGAGAGCCGGGTAACCATCAGCCATGCCATTGGCAGGAACAGCACGGAGGGCCGGGCCCACACCATGTGCATCGAGGGCTCGCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376:ENST00000007264:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.208
Domain overlap (PFAM):

C1:
PF0160011=Corona_S1=FE(30.8=100),PF0084917=PseudoU_synth_2=FE(27.0=100)
A:
NA
C2:
PF0084917=PseudoU_synth_2=PD(23.7=80.0)


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:
TTCTGCCACCAGCTGGATTTC
R:
GAGCCCTCGATGCACATGG
Band lengths:
221-395
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