HsaEX6079218 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63560795-63561466:-
Coord C1 exon
chr20:63561350-63561466
Coord A exon
chr20:63561082-63561194
Coord C2 exon
chr20:63560795-63560929
Length
113 bp
Sequences
Splice sites
3' ss Seq
CTGCACCTGCTCCTGTGCAGCCT
3' ss Score
6.44
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GAGCATCACCCTGCACCACCGGATCCGGCAGGCCCCCAACCCTTACTCGTCGGAAATCAAGGCCTTTGACACCCGGCTGCAGAGAGGGGAGCTCTTCTCCAGGGAGGACCTGGTCTG
Seq A exon
CCTCTGCCAGCCTCAAAATCCTGGACGTGAGGCAGATCCTTGTTGACGAGGCAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAG
Seq C2 exon
GTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'21-31,'21-30,22-31
Average complexity
S*
Mappability confidence:
88%=75=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.100 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(15.7=100)
A:
PF130861=AAA_11=FE(25.8=100)
C2:
PF130861=AAA_11=PD(6.5=35.6),PF130871=AAA_12=PU(10.1=46.7)
Main Skipping Isoform:
NA
Other Skipping 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:
GAGCATCACCCTGCACCAC
R:
CATGCGGTACTGAGTGTCCAG
Band lengths:
252-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains