HsaEX6024317 @ hg19
Exon Skipping
Gene
ENSG00000198265 | HELZ
Description
helicase with zinc finger [Source:HGNC Symbol;Acc:16878]
Coordinates
chr17:65199435-65214938:-
Coord C1 exon
chr17:65214711-65214938
Coord A exon
chr17:65212015-65212051
Coord C2 exon
chr17:65199435-65199559
Length
37 bp
Sequences
Splice sites
3' ss Seq
CTTGTATTTTTGTTTTGCAGAAA
3' ss Score
10.35
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
GATTTTTGTCCCTGAGTCATGGAAGACAGAAGAGCTGAAAAGTCATGTGAACAAGCATGTGAATCACTTAAGAGGCAGGACTATGAAATGGCCCTCAAGCACTGCACAGAGGCCCTTCTTTCTCTTGGCCAGTACTCCATGGCAGACTTCACAGGGCCTTGTCCATTGGAAATAGAACGCATCAAAATCGAGAGTCTTCTCTACAGAATTGCCTCATTTTTGCAACTG
Seq A exon
AAAAATTATGTGCAAGCTGATGAAGATTGTAGACATG
Seq C2 exon
TGCTGGGAGAAGGACTGGCCAAGGGAGAAGATGCCTTTCGGGCAGTGCTTTGCTGCATGCAGCTGAAAGGGAAGCTCCAACCTGTATCCACCATTCTTGCCAAGTCACTCACAGGAGAGTCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198265-'5-6,'5-5,6-6=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=0.000
Domain overlap (PFAM):
C1:
PF134141=TPR_11=PU(80.5=94.3)
A:
PF134141=TPR_11=FE(14.6=100)
C2:
PF134141=TPR_11=PD(2.4=4.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGACTTCACAGGGCCTTGTC
R:
AAAGGCATCTTCTCCCTTGGC
Band lengths:
124-161
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)