HsaEX6079220 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63560171-63560929:-
Coord C1 exon
chr20:63560795-63560929
Coord A exon
chr20:63560479-63560697
Coord C2 exon
chr20:63560171-63560327
Length
219 bp
Sequences
Splice sites
3' ss Seq
GCGCACATCCTTGCCTGCAGCAT
3' ss Score
5.78
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATG
Seq A exon
CATGAGGGCATCTGTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTG
Seq C2 exon
GTCCGTATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'23-33,'23-32,26-33=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.110 C2=0.000
Domain overlap (PFAM):
C1:
PF130861=AAA_11=PD(6.5=35.6),PF130871=AAA_12=PU(10.1=46.7)
A:
PF130871=AAA_12=FE(34.8=100)
C2:
PF130871=AAA_12=FE(25.1=100)
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:
GTGGTTCTTCTCGGAGACCAC
R:
CCTGGCTCTTGGTGATGGAGG
Band lengths:
292-511
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains