HsaEX0069470 @ hg38
Exon Skipping
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48099670-48107082:+
Coord C1 exon
chr7:48099670-48099787
Coord A exon
chr7:48101824-48101982
Coord C2 exon
chr7:48106873-48107082
Length
159 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTTCTCTGGCTGCAGTTT
3' ss Score
8
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
Exon sequences
Seq C1 exon
TGATTGCCCCGTCAGACTTTTAAATCCAAACATAGCAAAAATGAAAGAAGATATTCTCTATCATTTCAATCTCACCACTAGCAGACACAATTTCCCAGCCTTGTTTGGAGATGTGAAG
Seq A exon
TTTGTGTGTGTTGGTGGAAGCCCCTCCCGGATGAAAGCCTTCATCAGGTGCGTTGGTGCAGAGCTGGGCCTTGACTGCCCAGGTAGAGACTATCCCAACATCTGTGCGGGAACTGACCGCTATGCCATGTATAAAGTAGGACCGGTGCTGTCTGTCAGT
Seq C2 exon
GTCTGGAGCCCGGCACTGTGGTCATAACAGAGCAGGCAGTGGATACCTGCTTCAAGGCAGAGTTTGAGCAGATTGTCCTGGGGAAGCGGGTCATCCGGAAAACGGACCTTAACAAGAAGCTGGTGCAGGAGCTGTTGCTGTGTTCTGCAGAGCTGAGCGAGTTCACCACAGTGGTGGGGAACACCATGTGCACCTTGGACTTCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696_MULTIEX2-3/5=2-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.000 C2=0.260
Domain overlap (PFAM):
C1:
PF0104815=PNP_UDP_1=PU(0.1=0.0)
A:
NO
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:
AGCAGACACAATTTCCCAGCC
R:
GAAGTCCAAGGTGCACATGGT
Band lengths:
242-401
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