HsaEX1043059 @ 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
chr2:158127965-158128035
Coord C2 exon
chr2:158134748-158135966
Length
71 bp
Sequences
Splice sites
3' ss Seq
TATCTGTGTCTCTCTTAAAGCAA
3' ss Score
8.75
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
GCCAAGGCCGACTAGATGGAGCACTGTGCTCCTTTTCCAGAGAAAAAAAGTTAGACTACTTGAAGAGAGCATTTAAAGCTGGTGTCAGGAATATTGAAATGGAATCTACAGTGTTTGCAGCTATGTGTGGACTCTGTGGTCTAAAAG
Seq A exon
CAAAATCTACTTTAATTAAGCCCCAAACATTCTGATGAAAGATGATAATCCTCTTGTACTGTGAACTTGTG
Seq C2 exon
CTGCTGTGGTCTGTGTGACACTTCTCGACAGACTCGACTGTGATCAGATCAACTTGCCTCATGATGTCCTGGTGGAGTACCAGCAACGGCCTCAGCTCCTAATCTCCAACTTCATCAGACGGCGGCTTGGACTTTGTGACTAGACGTCCTAACTGGGCAGCCCAACCCTCCCCTGCAAGTTTGTAGCTCAAGTTGTAATGTGAAAGTCATATTTTATTTGTGGCATTTTTATATAGTTCTCATCCACATGCTAAATGGAAAGACTTTATGAAATCCTTCTCTCTTAAAAAGGAATTTATTGTAAAAGAATACTCACACTAAATTAAATTCAAATTTCATTTTAGAATAAGTTAACTAAATCAGTCTAATAATTAAAATTTTAAAACTCCTGGATTATGACATTTGGAGTTTCATATGCAGCATTAATTAAGCTCACATCAAAATAGACCAGCCATTTGCACATAGTTACCAGTCACTCTGTTTCTGAAACCAATCCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007001_MULTIEX1-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
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(1.9=33.3)
C2:
PF0104815=PNP_UDP_1=PD(15.5=81.2)
Main Inclusion Isoform:
ENST00000005756fB29451
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:
TGCAGCTATGTGTGGACTCTG
R:
TAGTCACAAAGTCCAAGCCGC
Band lengths:
174-245
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains