HsaINT0131704 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63561823-63562203:-
Coord C1 exon
chr20:63562072-63562203
Coord A exon
chr20:63561985-63562071
Coord C2 exon
chr20:63561823-63561984
Length
87 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
3' ss Seq
CTCCTATTCTCTGGCTGCAGGTA
3' ss Score
9.04
Exon sequences
Seq C1 exon
TGATCCCCAGCAGGTTCCTGGAGCGGCAGACCTACAACATCCCCGGAGGCCGCCACAAGCTGAACCCCAGCCAGAACGTGGCGGTCAGGGAGGCTCTGGAGAAGCCTTTCACGGTCATTCAGGGCCCACCAG
Seq A exon
GTAGGGCCCATGCCGGGGGAGCCGCAGGCTGCCTTGGGCCACAGGGACCCACAGGGTGGGCTACAATCTCCTATTCTCTGGCTGCAG
Seq C2 exon
GTACAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGCCCCCCCCGTGGGGAGAAGCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.378 A=NA C2=0.200
Domain overlap (PFAM):
C1:
PF130861=AAA_11=PU(10.1=55.6)
A:
NA
C2:
PF130861=AAA_11=FE(21.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTCTGGAGAAGCCTTTCAC
R:
GCAGTACAAGATGCAGGGACC
Band lengths:
169-256
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains