HsaINT0131706 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63561350-63561745:-
Coord C1 exon
chr20:63561601-63561745
Coord A exon
chr20:63561467-63561600
Coord C2 exon
chr20:63561350-63561466
Length
134 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
3' ss Seq
CACTGTGTCCTGTCCCCCAGGAG
3' ss Score
10.47
Exon sequences
Seq C1 exon
GACTGCTCCTGAGAAGGATGGAGCTGAAGCCCCTCCGTGTGTACAGTGAGCAGGCTGAGGCCAGCGAGTTCCCAGTGCCGCGTGTGGGCAGCAGGAAGCTGCTCAGGAAGAGCCCCCGGGAGGGGAGGCCGAACCAGAGCCTCAG
Seq A exon
GTGTGCCTGCTGTCTTTGGGGCTTGGGCGGAGTGGGGCCGAGCTGTCCAGACAGTCCTGTGTAGGTGGGTCTCACTGAGCTCTGCCCCCGTGATGGCCCTGCGTGGACAGGGCTCACTGTGTCCTGTCCCCCAG
Seq C2 exon
GAGCATCACCCTGCACCACCGGATCCGGCAGGCCCCCAACCCTTACTCGTCGGAAATCAAGGCCTTTGACACCCGGCTGCAGAGAGGGGAGCTCTTCTCCAGGGAGGACCTGGTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.265 A=NA C2=0.100
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(19.4=100)
A:
NA
C2:
PF130861=AAA_11=FE(15.7=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:
GCTCCTGAGAAGGATGGAGCT
R:
TCCTCCCTGGAGAAGAGCTC
Band lengths:
249-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains