HsaINT0073792 @ hg38
Intron Retention
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65974526-65975071:-
Coord C1 exon
chr7:65974919-65975071
Coord A exon
chr7:65974705-65974918
Coord C2 exon
chr7:65974526-65974704
Length
214 bp
Sequences
Splice sites
5' ss Seq
GACGTGTGT
5' ss Score
3.49
3' ss Seq
TTGGCTCTGCTATCTCCTAGATC
3' ss Score
7.75
Exon sequences
Seq C1 exon
GTGCAGCTGACTGCACAGACGTCACTGGGGCCTGTGTCTGACTTCTACACACTCCCTGTGGGGATCCGCACTGTGGCTGTCACCAAGAGCCAGTTCCTCATCAATGGGAAACCTTTCTATTTCCACGGTGTCAACAAGCATGAGGATGCGGAC
Seq A exon
GTGTGTTGGGGCTCCTGGGTCCTTGTCGGGGCTGCTTCTGGTCACCCTCCACTTTCGCCTTCCCTGTGTCCTGCAGTTGAGGGCAGCTCAGGGCAATGAGGCAAATGGCTCCAAATGGAGAGGGGGCTCATGGGGTGGCTCTCCAGGGTCCTGGCTCTCAGAGGAAGTGCAGCTTCGACAGGGACAGGGGTCACTTGGCTCTGCTATCTCCTAG
Seq C2 exon
ATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGGTGAAGGACTTCAACCTGCTTCGCTGGCTTGGTGCCAACGCTTTCCGTACCAGCCACTACCCCTATGCAGAGGAAGTGATGCAGATGTGTGACCGCTATGGGATTGTGGTCATCGATGAGTGTCCCGGCGTGGGCCTGGCGCTGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919:ENST00000304895:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA 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:
NA
C2:
PF0283612=Glyco_hydro_2_C=FE(19.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGACTGCACAGACGTCACTG
R:
TGACCACAATCCCATAGCGGT
Band lengths:
292-506
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