HsaEX0055290 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63561823-63562382:-
Coord C1 exon
chr20:63562288-63562382
Coord A exon
chr20:63562072-63562203
Coord C2 exon
chr20:63561823-63561984
Length
132 bp
Sequences
Splice sites
3' ss Seq
GGGAGGCTGCCCCCTCTCAGTGA
3' ss Score
2.87
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
CCGCAAGGAGGAAGCCGTGCGTGGACTAGAGGAGGCGTCCCCGCTGGTCACCAGCATCGCACTGGGCCGGCCTGTCCCGCAGCCCCTCTGCAGAG
Seq A exon
TGATCCCCAGCAGGTTCCTGGAGCGGCAGACCTACAACATCCCCGGAGGCCGCCACAAGCTGAACCCCAGCCAGAACGTGGCGGTCAGGGAGGCTCTGGAGAAGCCTTTCACGGTCATTCAGGGCCCACCAG
Seq C2 exon
GTACAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGCCCCCCCCGTGGGGAGAAGCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.182 A=0.378 C2=0.200
Domain overlap (PFAM):
C1:
NO
A:
PF130861=AAA_11=PU(10.1=55.6)
C2:
PF130861=AAA_11=FE(21.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCCGTGCGTGGACTAG
R:
AGGACATCCACCGACTTGTTG
Band lengths:
242-374
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development