HsaEX1043057 @ hg38
Exon Skipping
Gene
ENSG00000007001 | UPP2
Description
uridine phosphorylase 2 [Source:HGNC Symbol;Acc:HGNC:23061]
Coordinates
chr2:158121409-158123895:+
Coord C1 exon
chr2:158121409-158121618
Coord A exon
chr2:158123371-158123593
Coord C2 exon
chr2:158123749-158123895
Length
223 bp
Sequences
Splice sites
3' ss Seq
CCTCTTTTTTTTTCTCCCAGCAC
3' ss Score
8.9
5' ss Seq
CTGGTAGGA
5' ss Score
6.77
Exon sequences
Seq C1 exon
GGATTGCACCAGGGACTGTTGTAATAACGGATATAGCTGTAGACTCCTTCTTTAAGCCCCGGTTTGAACAGGTCATTTTGGACAACATTGTCACCCGAAGTACTGAACTGGACAAAGAACTGTCTGAAGAACTGTTCAACTGTAGCAAAGAAATCCCCAACTTCCCAACCCTCGTTGGACATACAATGTGTACCTATGATTTTTATGAAG
Seq A exon
CACCCATCCCTGGGCCATTCCCCAGTCATTGGAGCAACCTGAGATTTTCCTCAAAGGGCAGCTCTCACAGCAACCCCCCGCTTCCTGATTTCCCTGGGCACAGTGCTGGCTGCTGCAGCCACTCAACAGTTACTGACCCCAGAACTGAGGTCCTCGGCCATGAAGGCTCCTTCCTACGTATGAGACTCCTCAGCTAGGGACAGCATCGCTCCACAGTCCTCTG
Seq C2 exon
GCCAAGGCCGACTAGATGGAGCACTGTGCTCCTTTTCCAGAGAAAAAAAGTTAGACTACTTGAAGAGAGCATTTAAAGCTGGTGTCAGGAATATTGAAATGGAATCTACAGTGTTTGCAGCTATGTGTGGACTCTGTGGTCTAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007001_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.062 C2=0.000
Domain overlap (PFAM):
C1:
PF0104815=PNP_UDP_1=FE(27.9=100)
A:
PF0104815=PNP_UDP_1=PD(1.8=4.5)
C2:
PF0104815=PNP_UDP_1=FE(19.5=100)
Main Inclusion Isoform:
ENST00000605860fB29449
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
ACTCCTTCTTTAAGCCCCGGT
R:
CAGAGTCCACACATAGCTGCA
Band lengths:
304-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains