HsaEX0029116 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65974526-65976202:-
Coord C1 exon
chr7:65976015-65976202
Coord A exon
chr7:65974919-65975071
Coord C2 exon
chr7:65974526-65974704
Length
153 bp
Sequences
Splice sites
3' ss Seq
TGGTGCTTTGGCTGTCATAGGTG
3' ss Score
6.97
5' ss Seq
GACGTGTGT
5' ss Score
3.49
Exon sequences
Seq C1 exon
GGCTGGTGAATTACCAGATCTCTGTCAAGGGCAGTAACCTGTTCAAGTTGGAAGTGCGTCTTTTGGATGCAGAAAACAAAGTCGTGGCGAATGGGACTGGGACCCAGGGCCAACTTAAGGTGCCAGGTGTCAGCCTCTGGTGGCCGTACCTGATGCACGAACGCCCTGCCTATCTGTATTCATTGGAG
Seq A exon
GTGCAGCTGACTGCACAGACGTCACTGGGGCCTGTGTCTGACTTCTACACACTCCCTGTGGGGATCCGCACTGTGGCTGTCACCAAGAGCCAGTTCCTCATCAATGGGAAACCTTTCTATTTCCACGGTGTCAACAAGCATGAGGATGCGGAC
Seq C2 exon
ATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGGTGAAGGACTTCAACCTGCTTCGCTGGCTTGGTGCCAACGCTTTCCGTACCAGCCACTACCCCTATGCAGAGGAAGTGATGCAGATGTGTGACCGCTATGGGATTGTGGTCATCGATGAGTGTCCCGGCGTGGGCCTGGCGCTGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-5/8=4-6
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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=PD(0.1=0.0)
A:
PF0070316=Glyco_hydro_2=PD(21.6=43.1),PF0283612=Glyco_hydro_2_C=PU(8.6=51.0)
C2:
PF0283612=Glyco_hydro_2_C=FE(19.5=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:
GCAGAAAACAAAGTCGTGGCG
R:
TCCCATAGCGGTCACACATCT
Band lengths:
256-409
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