HsaINT0073789 @ hg38
Intron Retention
Gene
ENSG00000169919 | GUSB
Description
glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696]
Coordinates
chr7:65979399-65979911:-
Coord C1 exon
chr7:65979727-65979911
Coord A exon
chr7:65979542-65979726
Coord C2 exon
chr7:65979399-65979541
Length
185 bp
Sequences
Splice sites
5' ss Seq
CAAGTGGGT
5' ss Score
4.82
3' ss Seq
CCACAGTCCTCCCATCCTAGGTA
3' ss Score
6.15
Exon sequences
Seq C1 exon
TGGGTGAATGGGGTCGACACGCTAGAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCCAGGTGGGGCCCCTGCCCTCCCGGCTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCATCCAATACCTGACTGACACCTCCAA
Seq A exon
GTGGGTACCATCCTGCCTCCATTGCACACACCCACCTTCCCGCCCCACCCTGTGGTCTTCCTGGTAGGGACTGGGTGGCCTTCACAGAGTGGAGGCCTTGGATCTGGGGAGGCCAGGGAGGCCTGTGAGCTGAGGTCAGGGGACCCAGAGCAAGGGCCCAGCAAACCACAGTCCTCCCATCCTAG
Seq C2 exon
GTATCCCAAGGGTTACTTTGTCCAGAACACATATTTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTGTACACGACACCCACCACCTACATCGATGACATCACCGTCACCACCAGCGTGGAGCAAGACAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169919:ENST00000304895:3
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=PD(15.8=61.2),PF0070316=Glyco_hydro_2=PU(15.7=32.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGACACGCTAGAGCATGAG
R:
CAGAAGTACAGACCGCTGCAG
Band lengths:
252-437
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