HsaEX0029117 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65974295-65975071:-
Coord C1 exon
chr7:65974919-65975071
Coord A exon
chr7:65974526-65974704
Coord C2 exon
chr7:65974295-65974441
Length
179 bp
Sequences
Splice sites
3' ss Seq
TTGGCTCTGCTATCTCCTAGATC
3' ss Score
7.75
5' ss Seq
GCCGTGAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTGCAGCTGACTGCACAGACGTCACTGGGGCCTGTGTCTGACTTCTACACACTCCCTGTGGGGATCCGCACTGTGGCTGTCACCAAGAGCCAGTTCCTCATCAATGGGAAACCTTTCTATTTCCACGGTGTCAACAAGCATGAGGATGCGGAC
Seq A exon
ATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGGTGAAGGACTTCAACCTGCTTCGCTGGCTTGGTGCCAACGCTTTCCGTACCAGCCACTACCCCTATGCAGAGGAAGTGATGCAGATGTGTGACCGCTATGGGATTGTGGTCATCGATGAGTGTCCCGGCGTGGGCCTGGCGCTGCC
Seq C2 exon
GCAGTTCTTCAACAACGTTTCTCTGCATCACCACATGCAGGTGATGGAAGAAGTGGTGCGTAGGGACAAGAACCACCCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCTAGAATCTGCTGGCTACTACTTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-6/8=5-7
Average complexity
C1
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:
PF0070316=Glyco_hydro_2=PD(21.6=43.1),PF0283612=Glyco_hydro_2_C=PU(8.6=51.0)
A:
PF0283612=Glyco_hydro_2_C=FE(19.5=100)
C2:
PF0283612=Glyco_hydro_2_C=FE(16.2=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:
GGGGCCTGTGTCTGACTTCTA
R:
AGATTCTAGGTGGGACGCAGG
Band lengths:
257-436
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