HsaINT0073788 @ hg38
Intron Retention
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65979727-65980409:-
Coord C1 exon
chr7:65980224-65980409
Coord A exon
chr7:65979912-65980223
Coord C2 exon
chr7:65979727-65979911
Length
312 bp
Sequences
Splice sites
5' ss Seq
GTGGTCAGT
5' ss Score
4.85
3' ss Seq
CGTATCTCCTGTGTCTGCAGTGG
3' ss Score
7.34
Exon sequences
Seq C1 exon
TCAGGCCCCACCGTGGACATGCCAGTTCCCTCCAGCTTCAATGACATCAGCCAGGACTGGCGTCTGCGGCATTTTGTCGGCTGGGTGTGGTACGAACGGGAGGTGATCCTGCCGGAGCGATGGACCCAGGACCTGCGCACAAGAGTGGTGCTGAGGATTGGCAGTGCCCATTCCTATGCCATCGTG
Seq A exon
GTCAGTGCGGCCAGGAGCAGGCAGGGCGGGTGGGGGGGCACGGCTGCTGAACAGCATGGGACCTCCAGCTGCCACCCACGGCATGTATGCTGGGGTGGGATGGTGGGGGGTCCTGCCCTGCCCTGCCCTGGGGGCTGTGCCCTGTATAGGGGGATAGGTAGCCTGATCTACCCCATTGGGATGTCATTCTTCCCGTCTGGCTGGAAGGCCCCGGAGCCCCATGCTGCAGGTTATGTGAGGGAGTGCCCGATAGTAGGGCGCCTCCTCATGCCCTGACCTGCAGCCCCCTCCCCGTATCTCCTGTGTCTGCAG
Seq C2 exon
TGGGTGAATGGGGTCGACACGCTAGAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCCAGGTGGGGCCCCTGCCCTCCCGGCTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCATCCAATACCTGACTGACACCTCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919:ENST00000304895:2
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:
PF0283713=Glyco_hydro_2_N=FE(32.1=100)
A:
NA
C2:
PF0283713=Glyco_hydro_2_N=FE(32.1=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:
GGACATGCCAGTTCCCTCCAG
R:
AGGTATTGGATGGTCCCTGGT
Band lengths:
342-654
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