HsaEX0029114 @ hg19
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase, beta [Source:HGNC Symbol;Acc:4696]
Coordinates
chr7:65441002-65445396:-
Coord C1 exon
chr7:65445211-65445396
Coord A exon
chr7:65444386-65444528
Coord C2 exon
chr7:65441002-65441189
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
TCAGGCCCCACCGTGGACATGCCAGTTCCCTCCAGCTTCAATGACATCAGCCAGGACTGGCGTCTGCGGCATTTTGTCGGCTGGGTGTGGTACGAACGGGAGGTGATCCTGCCGGAGCGATGGACCCAGGACCTGCGCACAAGAGTGGTGCTGAGGATTGGCAGTGCCCATTCCTATGCCATCGTG
Seq A exon
GTATCCCAAGGGTTACTTTGTCCAGAACACATATTTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTGTACACGACACCCACCACCTACATCGATGACATCACCGTCACCACCAGCGTGGAGCAAGACAGTG
Seq C2 exon
GGCTGGTGAATTACCAGATCTCTGTCAAGGGCAGTAACCTGTTCAAGTTGGAAGTGCGTCTTTTGGATGCAGAAAACAAAGTCGTGGCGAATGGGACTGGGACCCAGGGCCAACTTAAGGTGCCAGGTGTCAGCCTCTGGTGGCCGTACCTGATGCACGAACGCCCTGCCTATCTGTATTCATTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-2/7=C1-3
Average complexity
C3*
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:
PF0070316=Glyco_hydro_2=FE(73.8=100),PF0283612=Glyco_hydro_2_C=PU(0.7=3.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGTTCCCTCCAGCTTCAAT
R:
CGCCACGACTTTGTTTTCTGC
Band lengths:
254-397
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)