HsaEX6079212 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63568358-63570611:-
Coord C1 exon
chr20:63570504-63570611
Coord A exon
chr20:63569148-63569665
Coord C2 exon
chr20:63568358-63568999
Length
518 bp
Sequences
Splice sites
3' ss Seq
CCGTCTGGCCTCCTCTCCAGGAG
3' ss Score
9.3
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
CTGGCAGAGACCCTTGATGGAGTGCGTGTCACCTGCAACCAGCCCCTGATGTACCAGGCCCAGGAGAGGAAGACCCAGTACAGCTGGACGTTTGCCGTCCACTCTGAG
Seq A exon
GAGCCCCTGCTACACGTGGCCCTGCTGAAGCAGGAGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTGCGTGTGCAGGCTGCCTCGTTCGGCACCTTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCAGGGGCGTCGCCCAGGACCCTGCAGGAATCTGGCGCTCGGCCACCCTGAGGAGATGGAGCGCTGGCACACTGGCAACCGCCACGTGGTGCCTGGCGTGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAGTACAAGGGCCCTGCCCTGGCCCTGGAGTTCAACCGCAGCAGCGTGGCCTCGGGCCCCATCTCACCAACCAACTATCGGCAGAGGATGCACCAGTTTCTCTATGAGGAGGAGGCGGCTCAGCAGCAGCTGGTGGCCAA
Seq C2 exon
GCTGACCCTGCGGGGCCAGGTGTTCCTGAAGACGGCATTGCAGACGCCAGCGCTGAACATGCTCTTCGCGCCTCCGGGAGCACTGTACGCAGAGGTCCCCGTCCCCTCCTCCCTGATGCCAGACACAGACCAGGGCTTCCTGCTGGGCCGGGCGGTCAGCACAGCCCTGGTGGCCCCTGTACCTGCACCCGACAATACGGTGTTCGAGGTGCGGCTGGAGAGGCGGGCCAGCTCAGAGCAGGCGCTGTGGCTGCTGCTTCCGGCCCGCTGCTGCTTGGCCCTGGGGCTGCAGCCTGAGGCCCGCCTGGTCCTGGAGGTGCAGTTCCAGATTGACCCGATGACCTTCCGCCTCTGGCACCAGGCAGTGGACACACTGCCTGAGGAGCAGCTGGTGGTGCCCGACTTGCCCACCTGCGCCCTGCCCAGACCTTGGTCTGTCCCACCCTTGCGGCGTGGCAACCGCAAGCAGGAGCTGGCCGTGGCGCTCATCGCGGGCTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'7-10,'7-8,10-10=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=0.162 C2=0.005
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF130861=AAA_11=PU(31.9=28.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
CGTTTGCCGTCCACTCTGAG
R:
GGGTCAATCTGGAACTGCACC
Band lengths:
356-874
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains