HsaEX6079221 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63559928-63560697:-
Coord C1 exon
chr20:63560479-63560697
Coord A exon
chr20:63560171-63560327
Coord C2 exon
chr20:63559928-63560095
Length
157 bp
Sequences
Splice sites
3' ss Seq
CTGCCCCCTCGGCTCCTCAGGTC
3' ss Score
9.29
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
CATGAGGGCATCTGTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTG
Seq A exon
GTCCGTATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGG
Seq C2 exon
GGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAATGTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'26-34,'26-33,28-34
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.110 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(34.8=100)
A:
PF130871=AAA_12=FE(25.1=100)
C2:
PF130871=AAA_12=FE(27.1=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:
GAGCTGCCCTGTCATCTTTGG
R:
AGCCACATTCACTTGGTTGGG
Band lengths:
246-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains