HsaEX0029113 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65979399-65980409:-
Coord C1 exon
chr7:65980224-65980409
Coord A exon
chr7:65979727-65979911
Coord C2 exon
chr7:65979399-65979541
Length
185 bp
Sequences
Splice sites
3' ss Seq
CGTATCTCCTGTGTCTGCAGTGG
3' ss Score
7.34
5' ss Seq
CAAGTGGGT
5' ss Score
4.82
Exon sequences
Seq C1 exon
TCAGGCCCCACCGTGGACATGCCAGTTCCCTCCAGCTTCAATGACATCAGCCAGGACTGGCGTCTGCGGCATTTTGTCGGCTGGGTGTGGTACGAACGGGAGGTGATCCTGCCGGAGCGATGGACCCAGGACCTGCGCACAAGAGTGGTGCTGAGGATTGGCAGTGCCCATTCCTATGCCATCGTG
Seq A exon
TGGGTGAATGGGGTCGACACGCTAGAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCCAGGTGGGGCCCCTGCCCTCCCGGCTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCATCCAATACCTGACTGACACCTCCAA
Seq C2 exon
GTATCCCAAGGGTTACTTTGTCCAGAACACATATTTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTGTACACGACACCCACCACCTACATCGATGACATCACCGTCACCACCAGCGTGGAGCAAGACAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919-'8-8,'8-6,11-8
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:
PF0283713=Glyco_hydro_2_N=FE(32.1=100)
A:
PF0283713=Glyco_hydro_2_N=FE(32.1=100)
C2:
PF0283713=Glyco_hydro_2_N=PD(15.8=61.2),PF0070316=Glyco_hydro_2=PU(15.7=32.7)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGTTCCCTCCAGCTTCAAT
R:
CAGAAGTACAGACCGCTGCAG
Band lengths:
244-429
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