Special

HsaINT0143236 @ hg38

Intron Retention

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14173]
Coordinates
chr16:786827-787179:-
Coord C1 exon
chr16:787077-787179
Coord A exon
chr16:786929-787076
Coord C2 exon
chr16:786827-786928
Length
148 bp
Sequences
Splice sites
5' ss Seq
AGGGTGTGG
5' ss Score
2.35
3' ss Seq
ACCTGCCTTCTGCGCCCCAGGTT
3' ss Score
8.29
Exon sequences
Seq C1 exon
CTGCGGGGGCACATCCAGGAGAGCCGGGTAACCATCAGCCATGCCATTGGCAGGAACAGCACGGAGGGCCGGGCCCACACCATGTGCATCGAGGGCTCGCAGG
Seq A exon
GTGTGGCAGGCAGGGACCCACCGGGCGGGCATCGTGGGTTGGGGTGGGCCTGGGCAGGCAGGGACCCACCGGGCGGGCATCGTGCGTTGGGGTGGGCCTGGGCCCCGGGTCAGTCCCACTAACCTCACACCTGCCTTCTGCGCCCCAG
Seq C2 exon
GTTGTGAGAACCCAAAGCCAAGCCTCACAGATCTCGTGGTTCTGGAACACGGGCTGTACGCAGGCGATCCTGTCTCCAAAGTGCTGCTGAAGCCGCTCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376:ENST00000007264:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.208 A=NA C2=0.019
Domain overlap (PFAM):

C1:
PF0084917=PseudoU_synth_2=PD(23.7=80.0)
A:
NA
C2:
PF0160011=Corona_S1=PD(13.4=53.3),PF0084917=PseudoU_synth_2=PD(16.3=56.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGGCACATCCAGGAGAG
R:
CGTGAGCGGCTTCAGCAG
Band lengths:
200-348
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