HsaEX0029119 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65967731-65974441:-
Coord C1 exon
chr7:65974295-65974441
Coord A exon
chr7:65970282-65970366
Coord C2 exon
chr7:65967731-65967907
Length
85 bp
Sequences
Splice sites
3' ss Seq
CTTCTGCCTTTTGTGGACAGGAT
3' ss Score
8.11
5' ss Seq
GGGGTGAGC
5' ss Score
5.97
Exon sequences
Seq C1 exon
GCAGTTCTTCAACAACGTTTCTCTGCATCACCACATGCAGGTGATGGAAGAAGTGGTGCGTAGGGACAAGAACCACCCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCTAGAATCTGCTGGCTACTACTTGAA
Seq A exon
GATGGTGATCGCTCACACCAAATCCTTGGACCCCTCCCGGCCTGTGACCTTTGTGAGCAACTCTAACTATGCAGCAGACAAGGGG
Seq C2 exon
GCTCCGTATGTGGATGTGATCTGTTTGAACAGCTACTACTCTTGGTATCACGACTACGGGCACCTGGAGTTGATTCAGCTGCAGCTGGCCACCCAGTTTGAGAACTGGTATAAGAAGTATCAGAAGCCCATTATTCAGAGCGAGTATGGAGCAGAAACGATTGCAGGGTTTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-8/8=7-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0283612=Glyco_hydro_2_C=FE(16.2=100)
A:
PF0283612=Glyco_hydro_2_C=FE(10.2=100)
C2:
PF0283612=Glyco_hydro_2_C=FE(19.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGTGGTGCGTAGGGACAAG
R:
CTGAATCAACTCCAGGTGCCC
Band lengths:
176-261
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