HsaEX0029114 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65976015-65979911:-
Coord C1 exon
chr7:65979727-65979911
Coord A exon
chr7:65979399-65979541
Coord C2 exon
chr7:65976015-65976202
Length
143 bp
Sequences
Splice sites
3' ss Seq
CCACAGTCCTCCCATCCTAGGTA
3' ss Score
6.15
5' ss Seq
GTGGTGAGG
5' ss Score
6.13
Exon sequences
Seq C1 exon
TGGGTGAATGGGGTCGACACGCTAGAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCCAGGTGGGGCCCCTGCCCTCCCGGCTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCATCCAATACCTGACTGACACCTCCAA
Seq A exon
GTATCCCAAGGGTTACTTTGTCCAGAACACATATTTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTGTACACGACACCCACCACCTACATCGATGACATCACCGTCACCACCAGCGTGGAGCAAGACAGTG
Seq C2 exon
GGCTGGTGAATTACCAGATCTCTGTCAAGGGCAGTAACCTGTTCAAGTTGGAAGTGCGTCTTTTGGATGCAGAAAACAAAGTCGTGGCGAATGGGACTGGGACCCAGGGCCAACTTAAGGTGCCAGGTGTCAGCCTCTGGTGGCCGTACCTGATGCACGAACGCCCTGCCTATCTGTATTCATTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-3/8=2-4
Average complexity
C2*
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=PD(15.8=61.2),PF0070316=Glyco_hydro_2=PU(15.7=32.7)
C2:
PF0283713=Glyco_hydro_2_N=PD(0.1=0.0)
Main Skipping Isoform:
ENST00000421103fB16840
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATCAGCAACCTGGTCCAG
R:
ACACCTGGCACCTTAAGTTGG
Band lengths:
258-401
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