HsaEX6008182 @ hg38
Exon Skipping
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48090250-48107082:+
Coord C1 exon
chr7:48090250-48090364
Coord A exon
chr7:48094763-48094827
Coord C2 exon
chr7:48106873-48107082
Length
65 bp
Sequences
Splice sites
3' ss Seq
CTGTGATTTTTTTTCCTTAGGGT
3' ss Score
11.35
5' ss Seq
CAAGTAAGG
5' ss Score
7.66
Exon sequences
Seq C1 exon
GGCTTGGTGAGGTGACTCGCGGTCGCGGGTGACTCGCCGGCAGGACACTGCCTGGAACGCCTGGAGCGCCTCCCACTGCAGACGTCTGTCCGCCTCCAGCCGCTCTCCTCTGACG
Seq A exon
GGTCCTGCCTCAGTTGGCGGAATGGCGGCCACGGGAGCCAATGCAGAGAAAGCTGAAAGTCACAA
Seq C2 exon
GTCTGGAGCCCGGCACTGTGGTCATAACAGAGCAGGCAGTGGATACCTGCTTCAAGGCAGAGTTTGAGCAGATTGTCCTGGGGAAGCGGGTCATCCGGAAAACGGACCTTAACAAGAAGCTGGTGCAGGAGCTGTTGCTGTGTTCTGCAGAGCTGAGCGAGTTCACCACAGTGGTGGGGAACACCATGTGCACCTTGGACTTCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696_MULTIEX2-1/5=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.473 C2=0.260
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0104815=PNP_UDP_1=FE(27.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCACTGCAGACGTCTGTC
R:
CTCCTGCACCAGCTTCTTGTT
Band lengths:
177-242
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains