HsaEX0068592 @ hg38
Exon Skipping
Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Source:HGNC Symbol;Acc:HGNC:28082]
Coordinates
chr9:137077501-137078677:+
Coord C1 exon
chr9:137077501-137077821
Coord A exon
chr9:137078050-137078254
Coord C2 exon
chr9:137078502-137078677
Length
205 bp
Sequences
Splice sites
3' ss Seq
CACGGCGCCCGTACCCCCAGGTT
3' ss Score
8.15
5' ss Seq
CTGGTGTGT
5' ss Score
4.96
Exon sequences
Seq C1 exon
CGAGTGCCGACTTGACAGACGGCAGCGGCGACATGGCTTCGGAGCAGGACGTGCGCGCCCGGCTGCAGCGCGCTGGCCAGGAGCACCTCCTGCGCTTCTGGGCCGAGCTGGCGCCGGAGCCACGAGCCGCGCTGCTGGCGGAGCTGGCGCTGCTGGAGCCCGAGGCGCTGCGCGAGCACTGCCGGCGGGCGGCGGAGGCCTGCGCGCGCCCCCACGGCCCGCCGCCCGACTTGGCCGCGCGCCTGCGGCCCCTGCCCCCAGAGCGCGTGGGCAGGGCCAGCCGCAGCGACCCCGAGACACGGCGGCGCTGGGAGGAGGAAG
Seq A exon
GTTTCCGTCAGATTTCTCTGAACAAGGTGGCCGTCCTGCTGCTGGCTGGGGGGCAGGGCACTCGCCTGGGCGTGACCTACCCCAAGGGTATGTACCGTGTGGGGCTGCCCAGCCGGAAGACCCTGTACCAGCTGCAGGCGGAGCGGATTCGGCGGGTGGAGCAGCTGGCCGGTGAGCGCCACGGGACCCGCTGCACCGTCCCCTG
Seq C2 exon
GTACGTCATGACCAGCGAGTTCACTCTGGGGCCCACGGCCGAGTTCTTCAGGGAGCACAACTTCTTCCACCTGGACCCCGCCAACGTGGTCATGTTTGAGCAGCGCCTGCTGCCTGCTGTGACCTTTGATGGCAAGGTTATCCTGGAGCGGAAAGACAAAGTTGCCATGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355-'0-3,'0-0,3-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.562 A=0.029 C2=0.076
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=PU(4.2=16.5)
A:
PF0170413=UDPGP=FE(17.8=100)
C2:
PF0170413=UDPGP=FE(15.5=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACCTCCTGCGCTTCTG
R:
TTGTGCTCCCTGAAGAACTCG
Band lengths:
299-504
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