HsaINT0131707 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63561082-63561466:-
Coord C1 exon
chr20:63561350-63561466
Coord A exon
chr20:63561275-63561349
Coord C2 exon
chr20:63561082-63561274
Length
75 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
ACAAGCAGTGTCCCCGGCAGGTA
3' ss Score
4.04
Exon sequences
Seq C1 exon
GAGCATCACCCTGCACCACCGGATCCGGCAGGCCCCCAACCCTTACTCGTCGGAAATCAAGGCCTTTGACACCCGGCTGCAGAGAGGGGAGCTCTTCTCCAGGGAGGACCTGGTCTG
Seq A exon
GTAAGTGGCAGGGGCCAGGGGGTGGAGCTGCCTGCAGCATGGGGGCCCTGGGGTGACAAGCAGTGTCCCCGGCAG
Seq C2 exon
GTACAAGAAGGTCTTGTGGGAGGCTCGGAAGTTCGAGCTGGACCGGCATGAGGTCATCCTCTGCACCTGCTCCTGTGCAGCCTCTGCCAGCCTCAAAATCCTGGACGTGAGGCAGATCCTTGTTGACGAGGCAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.100 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(15.7=100)
A:
NA
C2:
PF130861=AAA_11=FE(25.8=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:
CTCGTCGGAAATCAAGGCCTT
R:
CGTCCAGGATTTTGAGGCTGG
Band lengths:
179-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains