HsaEX0029676 @ hg19
Exon Skipping
Gene
ENSG00000198265 | HELZ
Description
helicase with zinc finger [Source:HGNC Symbol;Acc:16878]
Coordinates
chr17:65124767-65134230:-
Coord C1 exon
chr17:65134047-65134230
Coord A exon
chr17:65132086-65132314
Coord C2 exon
chr17:65124767-65124971
Length
229 bp
Sequences
Splice sites
3' ss Seq
TTAAAAAATTTTCTTTGTAGGAA
3' ss Score
9.05
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTGTTTGAAGTGGTGGAACGTGTAGAAGAGTTAAGAAGGAAGTGGCCAGTAGCGTGGGGGAAGTTAGATGATGGCAGTATTGGTGTGGTGACTCCATATGCTGATCAAGTGTTTAGAATACGTGCTGAACTTCGAAAAAAGAGATTATCTGATGTTAATGTAGAAAGGGTGCTAAATGTTCAAG
Seq A exon
GAAAGCAATTCAGAGTTTTGTTTCTTAGCACAGTACGTACAAGACATACTTGTAAACATAAACAGACACCAATTAAAAAGAAAGAGCAACTTCTGGAAGATTCCACAGAGGACTTAGATTATGGTTTTTTATCTAACTACAAGCTTCTCAATACTGCCATCACAAGAGCACAATCCCTGGTTGCTGTGGTGGGTGATCCCATTGCTCTGTGCTCTATTGGAAGATGCAG
Seq C2 exon
GAAATTTTGGGAACGGTTTATTGCCCTGTGTCATGAAAACAGTAGCCTACATGGAATCACTTTTGAACAGATCAAAGCCCAGTTAGAGGCTTTAGAACTAAAGAAGACATATGTGTTGAATCCGCTGGCACCTGAATTTATCCCCCGGGCTCTAAGACTGCAGCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198265_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.013 C2=0.232
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(28.6=100)
A:
PF130871=AAA_12=PD(31.5=87.0)
C2:
PF0714510=PAM2=WD(100=26.1)
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:
AGCGTGGGGGAAGTTAGATGA
R:
GTCTTAGAGCCCGGGGGATAA
Band lengths:
292-521
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)