HsaEX0055289 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63562520-63568074:-
Coord C1 exon
chr20:63566844-63568074
Coord A exon
chr20:63566378-63566453
Coord C2 exon
chr20:63562520-63566231
Length
76 bp
Sequences
Splice sites
3' ss Seq
CGGCCCTGCTGCGTCTTCAGGTC
3' ss Score
9.13
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
TGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTATGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGGCCCGGGCGGCCGAGCACACGCTGCTGCACCGCCTCTTCCTGTGCTACCAGCAGGAGACTCACGAGGTGGCGCGGCAGAGCCGCCTGGTCTTCCACGAGAACTACCGCTGCACGGACGCCATTGTCAGCTTCATCTCGCGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGGGCAAGGTTCCGCCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCAGCCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCGCGAGCAGAGGTGCATCTGTGTCGTTTCCCACGGTGCCCAG
Seq A exon
GTCAGTGCACTGAGGCAGGAGCTGAGGAGGCGGGACCTAGGCCAGGTGTCTGTCGGCAGTTTTGAGATCCTGCCAG
Seq C2 exon
GGCGGCAGTTCCGGGTCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCTGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTGCGTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCAGGCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTGCGGCAGCACCAGCAGGAGACGCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.060 A=0.000 C2=0.123
Domain overlap (PFAM):
C1:
PF130861=AAA_11=PD(67.5=49.2),PF130871=AAA_12=PU(61.5=48.1)
A:
PF130871=AAA_12=FE(12.2=100)
C2:
PF130871=AAA_12=PD(25.4=4.2),PF0077314=RNB=WD(100=29.1)
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:
AGGTGCATCTGTGTCGTTTCC
R:
ACTACCACCAGCTGGGACTG
Band lengths:
178-254
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