HsaEX0069469 @ hg38
Exon Skipping
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48094763-48107082:+
Coord C1 exon
chr7:48094763-48094827
Coord A exon
chr7:48099670-48099787
Coord C2 exon
chr7:48106873-48107082
Length
118 bp
Sequences
Splice sites
3' ss Seq
ACTTTCTTGTTTTTTAACAGTGA
3' ss Score
9.77
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GGTCCTGCCTCAGTTGGCGGAATGGCGGCCACGGGAGCCAATGCAGAGAAAGCTGAAAGTCACAA
Seq A exon
TGATTGCCCCGTCAGACTTTTAAATCCAAACATAGCAAAAATGAAAGAAGATATTCTCTATCATTTCAATCTCACCACTAGCAGACACAATTTCCCAGCCTTGTTTGGAGATGTGAAG
Seq C2 exon
GTCTGGAGCCCGGCACTGTGGTCATAACAGAGCAGGCAGTGGATACCTGCTTCAAGGCAGAGTTTGAGCAGATTGTCCTGGGGAAGCGGGTCATCCGGAAAACGGACCTTAACAAGAAGCTGGTGCAGGAGCTGTTGCTGTGTTCTGCAGAGCTGAGCGAGTTCACCACAGTGGTGGGGAACACCATGTGCACCTTGGACTTCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696_MULTIEX2-2/5=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.473 A=0.015 C2=0.260
Domain overlap (PFAM):
C1:
NO
A:
PF0104815=PNP_UDP_1=PU(0.1=0.0)
C2:
PF0104815=PNP_UDP_1=FE(27.9=100)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCAGTTGGCGGAATGGC
R:
TCCAAGGTGCACATGGTGTTC
Band lengths:
257-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development