HsaEX6079219 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63560479-63561274:-
Coord C1 exon
chr20:63561082-63561274
Coord A exon
chr20:63560795-63560929
Coord C2 exon
chr20:63560479-63560697
Length
135 bp
Sequences
Splice sites
3' ss Seq
AGGCCTGCCTATTCCTCCAGGTG
3' ss Score
8.52
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
GTACAAGAAGGTCTTGTGGGAGGCTCGGAAGTTCGAGCTGGACCGGCATGAGGTCATCCTCTGCACCTGCTCCTGTGCAGCCTCTGCCAGCCTCAAAATCCTGGACGTGAGGCAGATCCTTGTTGACGAGGCAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAG
Seq A exon
GTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATG
Seq C2 exon
CATGAGGGCATCTGTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'22-32,'22-31,23-32=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.110
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(25.8=100)
A:
PF130861=AAA_11=PD(6.5=35.6),PF130871=AAA_12=PU(10.1=46.7)
C2:
PF130871=AAA_12=FE(34.8=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:
AAGAAGGTCTTGTGGGAGGCT
R:
CCACGTCTTCAGCTTGCTCTT
Band lengths:
249-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains