HsaEX6079222 @ hg38
Exon Skipping
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63558086-63560327:-
Coord C1 exon
chr20:63560171-63560327
Coord A exon
chr20:63559928-63560095
Coord C2 exon
chr20:63558086-63559370
Length
168 bp
Sequences
Splice sites
3' ss Seq
CCTCACCTCCCATCCCGCAGGGA
3' ss Score
9.94
5' ss Seq
TCGGTGAGG
5' ss Score
8.99
Exon sequences
Seq C1 exon
GTCCGTATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGG
Seq A exon
GGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAATGTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCG
Seq C2 exon
GAGACCACCTCCTTCTGCGCTGCTGCCCCCTCTGGCGTAGCCTCCTGGACTTCTGCGAGGCTCAGCAGACCCTCGTGCCTGCCGGCCAGGTGCGCGTCTGCAGGAGGCCAACTATGCCTTCCTGAAGAGCCCTCTCCACCTGCAAGGTGCCAGGACTGGGAGGGAAAGTCCAGGGCCCCCCCACCCTCCCCACCACCCTCCGCCATCAGCCTGCCTGGGCCAGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGCAAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGGAAACCCTGTGGAGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATGGTGTCTGTGGAGTTCAGGTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'28-35,'28-34,29-35=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(25.1=100)
A:
PF130871=AAA_12=FE(27.1=100)
C2:
PF130871=AAA_12=PD(1.4=7.1)
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:
TCTGAGATCAGCAAGGCCCTT
R:
CCTGGACTTTCCCTCCCAGTC
Band lengths:
247-415
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains