HsaEX6024326 @ hg38
Exon Skipping
Gene
ENSG00000198265 | HELZ
Description
helicase with zinc finger [Source:HGNC Symbol;Acc:HGNC:16878]
Coordinates
chr17:67135970-67145890:-
Coord C1 exon
chr17:67145743-67145890
Coord A exon
chr17:67137931-67138114
Coord C2 exon
chr17:67135970-67136198
Length
184 bp
Sequences
Splice sites
3' ss Seq
GTGTGTGTTTGTTTTTAAAGGTG
3' ss Score
10.12
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
TTATACCTCTGAGCTTTTCTATGAGGGCAAACTGATGGCCAGTGGGAAGCAGCCAGCACACAAAGATTTCTACCCACTAACTTTCTTTACAGCACGAGGAGAAGATGTACAAGAAAAAAATAGCACAGCTTTTTATAATAATGCAGAG
Seq A exon
GTGTTTGAAGTGGTGGAACGTGTAGAAGAGTTAAGAAGGAAGTGGCCAGTAGCGTGGGGGAAGTTAGATGATGGCAGTATTGGTGTGGTGACTCCATATGCTGATCAAGTGTTTAGAATACGTGCTGAACTTCGAAAAAAGAGATTATCTGATGTTAATGTAGAAAGGGTGCTAAATGTTCAAG
Seq C2 exon
GAAAGCAATTCAGAGTTTTGTTTCTTAGCACAGTACGTACAAGACATACTTGTAAACATAAACAGACACCAATTAAAAAGAAAGAGCAACTTCTGGAAGATTCCACAGAGGACTTAGATTATGGTTTTTTATCTAACTACAAGCTTCTCAATACTGCCATCACAAGAGCACAATCCCTGGTTGCTGTGGTGGGTGATCCCATTGCTCTGTGCTCTATTGGAAGATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198265-'68-69,'68-68,69-69=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.013
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(23.0=100)
A:
PF130871=AAA_12=FE(28.6=100)
C2:
PF130871=AAA_12=PD(31.5=87.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCACGAGGAGAAGATGTACA
R:
GCAACCAGGGATTGTGCTCTT
Band lengths:
243-427
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains