HsaEX0029118 @ hg38
Exon Skipping
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65967731-65974704:-
Coord C1 exon
chr7:65974526-65974704
Coord A exon
chr7:65974295-65974441
Coord C2 exon
chr7:65967731-65967907
Length
147 bp
Sequences
Splice sites
3' ss Seq
CCTTCCCTCCTGGCCCGCAGGCA
3' ss Score
10.68
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
ATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGGTGAAGGACTTCAACCTGCTTCGCTGGCTTGGTGCCAACGCTTTCCGTACCAGCCACTACCCCTATGCAGAGGAAGTGATGCAGATGTGTGACCGCTATGGGATTGTGGTCATCGATGAGTGTCCCGGCGTGGGCCTGGCGCTGCC
Seq A exon
GCAGTTCTTCAACAACGTTTCTCTGCATCACCACATGCAGGTGATGGAAGAAGTGGTGCGTAGGGACAAGAACCACCCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCTAGAATCTGCTGGCTACTACTTGAA
Seq C2 exon
GCTCCGTATGTGGATGTGATCTGTTTGAACAGCTACTACTCTTGGTATCACGACTACGGGCACCTGGAGTTGATTCAGCTGCAGCTGGCCACCCAGTTTGAGAACTGGTATAAGAAGTATCAGAAGCCCATTATTCAGAGCGAGTATGGAGCAGAAACGATTGCAGGGTTTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919_MULTIEX1-7/8=6-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0283612=Glyco_hydro_2_C=FE(19.5=100)
A:
PF0283612=Glyco_hydro_2_C=FE(16.2=100)
C2:
PF0283612=Glyco_hydro_2_C=FE(19.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAGATGTGTGACCGCTATGGG
R:
CTGGTGAAACCCTGCAATCGT
Band lengths:
242-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development