HsaINT0131699 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63559928-63560327:-
Coord C1 exon
chr20:63560171-63560327
Coord A exon
chr20:63560096-63560170
Coord C2 exon
chr20:63559928-63560095
Length
75 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
3' ss Seq
CCTCACCTCCCATCCCGCAGGGA
3' ss Score
9.94
Exon sequences
Seq C1 exon
GTCCGTATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGG
Seq A exon
GTGAGGCTGGGGGCTCGTGGGTGGGGCCGGGAGGGTGGGCGCAGCGGCAGCAGGGCCTCACCTCCCATCCCGCAG
Seq C2 exon
GGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAATGTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(25.1=100)
A:
NA
C2:
PF130871=AAA_12=FE(27.1=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:
CTGAGATCAGCAAGGCCCTTC
R:
CCACAACGAAGCCCAGAAACT
Band lengths:
183-258
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains