HsaEX1043058 @ hg38
Exon Skipping
Gene
ENSG00000007001 | UPP2
Description
uridine phosphorylase 2 [Source:HGNC Symbol;Acc:HGNC:23061]
Coordinates
chr2:158123749-158135966:+
Coord C1 exon
chr2:158123749-158123895
Coord A exon
chr2:158126213-158126775
Coord C2 exon
chr2:158134748-158135966
Length
563 bp
Sequences
Splice sites
3' ss Seq
GCTCTCTCTGCTACCTGCAGGTT
3' ss Score
9.66
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
GCCAAGGCCGACTAGATGGAGCACTGTGCTCCTTTTCCAGAGAAAAAAAGTTAGACTACTTGAAGAGAGCATTTAAAGCTGGTGTCAGGAATATTGAAATGGAATCTACAGTGTTTGCAGCTATGTGTGGACTCTGTGGTCTAAAAG
Seq A exon
GTTTCCCTCCTGGATGCTTTCTTCTCTACATTTCTGTAGTTACTGCCCTCCACTGCATTTTCTTTCTTATGCTGCTGCTGGACCTGCTGGTAGCTGATTTCCGCCTGCAAATAGCTCTCCCCCAGGCCACTGCTGCAGCCTTTCATGGAGTAGACCCCTTCTAGGCTGCCAACATTCACACTAAAAGTTGCATCTGCAGCTCTGTAGTTCTTGGGAGTATTTCTATCTGAATGTCTTCATGGTGCCAGCGGCTCTTTATCTCCCTCAGATTTACTGTTCTAAAAGGTGGATTCCTGGTATGCTGTCCCCTGGAAGATCAGCCACCAAGTATAGAGACCGAAAACCCCATGGATAGGGTGCTATCATATTCTCTTCTTTCATTACTACTTCATAACATCCTGTTCCCGTAACACTGAAGCTTGGAAGCTGGCATCTGGCACCTTTTGATTTTAACCCATTTATAACGCACTTTGTGTGAGCCAGAAAAGCTTGCTTGGGGAAGGGCTGAGAATGCATTCATGGACAGCTGCTGAAACAGAGGAAGTTAGAGAGGACATCTGATG
Seq C2 exon
CTGCTGTGGTCTGTGTGACACTTCTCGACAGACTCGACTGTGATCAGATCAACTTGCCTCATGATGTCCTGGTGGAGTACCAGCAACGGCCTCAGCTCCTAATCTCCAACTTCATCAGACGGCGGCTTGGACTTTGTGACTAGACGTCCTAACTGGGCAGCCCAACCCTCCCCTGCAAGTTTGTAGCTCAAGTTGTAATGTGAAAGTCATATTTTATTTGTGGCATTTTTATATAGTTCTCATCCACATGCTAAATGGAAAGACTTTATGAAATCCTTCTCTCTTAAAAAGGAATTTATTGTAAAAGAATACTCACACTAAATTAAATTCAAATTTCATTTTAGAATAAGTTAACTAAATCAGTCTAATAATTAAAATTTTAAAACTCCTGGATTATGACATTTGGAGTTTCATATGCAGCATTAATTAAGCTCACATCAAAATAGACCAGCCATTTGCACATAGTTACCAGTCACTCTGTTTCTGAAACCAATCCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007001_MULTIEX1-1/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0104815=PNP_UDP_1=FE(19.5=100)
A:
PF0104815=PNP_UDP_1=PD(7.4=30.9)
C2:
PF0104815=PNP_UDP_1=PD(15.5=81.2)
Main Inclusion Isoform:
ENST00000005756fB29450
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAAGGCCGACTAGATGGAG
R:
CAACTTGAGCTACAAACTTGCAGG
Band lengths:
342-905
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains