HsaEX0029117 @ hg19
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase, beta [Source:HGNC Symbol;Acc:4696]
Coordinates
chr7:65432718-65440058:-
Coord C1 exon
chr7:65439906-65440058
Coord A exon
chr7:65439513-65439691
Coord C2 exon
chr7:65432718-65432894
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
GCTCCGTATGTGGATGTGATCTGTTTGAACAGCTACTACTCTTGGTATCACGACTACGGGCACCTGGAGTTGATTCAGCTGCAGCTGGCCACCCAGTTTGAGAACTGGTATAAGAAGTATCAGAAGCCCATTATTCAGAGCGAGTATGGAGCAGAAACGATTGCAGGGTTTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-5/7=4-C2
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:
PF0070316=Glyco_hydro_2=PD(21.6=43.1),PF0283612=Glyco_hydro_2_C=PU(8.6=51.0)
A:
PF0070316=Glyco_hydro_2=PD(4.8=6.7),PF0283612=Glyco_hydro_2_C=FE(21.1=100)
C2:
PF0283612=Glyco_hydro_2_C=FE(19.1=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:
TCACCAAGAGCCAGTTCCTCA
R:
CTGGTGAAACCCTGCAATCGT
Band lengths:
251-430
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)