HsaEX6041479 @ hg38
Exon Skipping
Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14173]
Coordinates
chr16:787077-787981:-
Coord C1 exon
chr16:787556-787981
Coord A exon
chr16:787354-787477
Coord C2 exon
chr16:787077-787179
Length
124 bp
Sequences
Splice sites
3' ss Seq
TGGACTCTGTCCCACTCCAGGTT
3' ss Score
8.64
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
GGCTTAGGTCAGGCAGGGCCCTTCAGGTCAGCCCGGAGCAGGCTGACTCCTTGACTCCCCAGCTGACGCCCTGGGGACTGATCTCGGGGACTGAGGATGCAGGTGCACAGTAGGGCTGCGGACCCGGCTCGGTGGCTTCGCACCGGAGCCCGGGTGGGGCGGTGCGGGTACCTCTGTATGCTGGGCTGGGGGCGCACCACGTGCTCACAGCACACGCACCCACGCGTGGCTCGGCAGGCCGGCCATGGAGCCAGGCAGCGTGGAGAACCTGTCCATCGTGTACCGGAGCCGCGACTTCCTGGTGGTCAACAAGCACTGGGACGTTCGCATTGACAGCAAGGCGTGGCGGGAGACTCTGACCCTGCAGAAGCAGCTGCGGTACCGCTTTCCCGAGCTGGCCGACCCTGACACCTGCTACGGGTTCAG
Seq A exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
Seq C2 exon
CTGCGGGGGCACATCCAGGAGAGCCGGGTAACCATCAGCCATGCCATTGGCAGGAACAGCACGGAGGGCCGGGCCCACACCATGTGCATCGAGGGCTCGCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376-'2-9,'2-6,4-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.208
Domain overlap (PFAM):
C1:
PF0160011=Corona_S1=PU(45.1=98.4),PF0084917=PseudoU_synth_2=PU(28.9=72.1)
A:
PF0160011=Corona_S1=FE(30.8=100),PF0084917=PseudoU_synth_2=FE(27.0=100)
C2:
PF0084917=PseudoU_synth_2=PD(23.7=80.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACCTGTCCATCGTGTACCG
R:
GCCCTCGATGCACATGGTG
Band lengths:
258-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains