HsaEX0068593 @ hg38
Exon Skipping
Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Source:HGNC Symbol;Acc:HGNC:28082]
Coordinates
chr9:137078976-137080142:+
Coord C1 exon
chr9:137078976-137079148
Coord A exon
chr9:137079256-137079449
Coord C2 exon
chr9:137080002-137080142
Length
194 bp
Sequences
Splice sites
3' ss Seq
ATCCCTGGTCTTGGCTGCAGGTG
3' ss Score
8.44
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
Exon sequences
Seq C1 exon
ACGGCAACGGGGGCCTCTACTGCGCGCTGGAGGACCACAAGATCCTGGAGGACATGGAGCGCCGGGGAGTGGAGTTTGTGCACGTGTACTGTGTGGACAACATCCTGGTGCGGCTGGCGGACCCTGTCTTCATCGGCTTCTGTGTGTTGCAGGGCGCAGACTGTGGCGCCAAG
Seq A exon
GTGGTGGAAAAGGCATACCCCGAGGAGCCCGTGGGCGTGGTGTGCCAGGTGGACGGTGTCCCCCAGGTGGTGGAGTACAGCGAGATCAGTCCTGAGACCGCACAGCTACGTGCCTCCGACGGGAGCCTGCTGTACAATGCAGGCAACATCTGCAACCACTTCTTCACCCGAGGCTTCCTTAAGGCGGTCACCAG
Seq C2 exon
GGAGTTTGAGCCTTTGCTGAAGCCACACGTGGCTGTGAAGAAGGTCCCGTATGTGGATGAGGAGGGGAATCTGGTAAAGCCGCTAAAACCGAACGGGATAAAGATGGAGAAGTTTGTGTTTGATGTGTTCCGGTTTGCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355-'7-7,'7-6,8-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=FE(18.9=100)
A:
PF0170413=UDPGP=FE(21.3=100)
C2:
PF0170413=UDPGP=FE(15.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACCACAAGATCCTGGAGG
R:
TATCCCGTTCGGTTTTAGCGG
Band lengths:
243-437
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development