HsaEX0069471 @ hg38
Exon Skipping
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48101824-48107082:+
Coord C1 exon
chr7:48101824-48101982
Coord A exon
chr7:48103297-48103411
Coord C2 exon
chr7:48106873-48107082
Length
115 bp
Sequences
Splice sites
3' ss Seq
GTGTTTCTCCCTGGTTCCAGCAT
3' ss Score
8.12
5' ss Seq
TAGGTAAGG
5' ss Score
9.31
Exon sequences
Seq C1 exon
TTTGTGTGTGTTGGTGGAAGCCCCTCCCGGATGAAAGCCTTCATCAGGTGCGTTGGTGCAGAGCTGGGCCTTGACTGCCCAGGTAGAGACTATCCCAACATCTGTGCGGGAACTGACCGCTATGCCATGTATAAAGTAGGACCGGTGCTGTCTGTCAGT
Seq A exon
CATGGTATGGGCATTCCTTCTATCTCAATCATGTTGCATGAGCTCATAAAGCTGCTGTACTATGCCCGGTGCTCCAACGTCACTATCATCCGCATTGGCACTTCTGGTGGGATAG
Seq C2 exon
GTCTGGAGCCCGGCACTGTGGTCATAACAGAGCAGGCAGTGGATACCTGCTTCAAGGCAGAGTTTGAGCAGATTGTCCTGGGGAAGCGGGTCATCCGGAAAACGGACCTTAACAAGAAGCTGGTGCAGGAGCTGTTGCTGTGTTCTGCAGAGCTGAGCGAGTTCACCACAGTGGTGGGGAACACCATGTGCACCTTGGACTTCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696_MULTIEX2-4/5=3-C2
Average complexity
C2
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=0.260
Domain overlap (PFAM):
C1:
PF0104815=PNP_UDP_1=FE(20.7=100)
A:
PF0104815=PNP_UDP_1=FE(15.1=100)
C2:
PF0104815=PNP_UDP_1=FE(27.9=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACTGACCGCTATGCCATGT
R:
TCCAAGGTGCACATGGTGTTC
Band lengths:
249-364
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