HsaEX0029666 @ hg38
Exon Skipping
Gene
ENSG00000198265 | HELZ
Description
helicase with zinc finger [Source:HGNC Symbol;Acc:HGNC:16878]
Coordinates
chr17:67178659-67188616:-
Coord C1 exon
chr17:67188319-67188616
Coord A exon
chr17:67185012-67185145
Coord C2 exon
chr17:67178659-67178926
Length
134 bp
Sequences
Splice sites
3' ss Seq
CTTGTGTGGACAACATTCAGAGA
3' ss Score
1.09
5' ss Seq
CAGGTATAA
5' ss Score
7.46
Exon sequences
Seq C1 exon
CCTGCAAGAATGCTGTATCGTGTAGCATTGCTTTATGATGCTCATCGTCCTCATTTTAGTATCATTGCAATATCTGCCGGAGATAGTACTACCCAGGTATCACAAGAAGTCCCAGAAAACTGTCAAGAATGGATAGGAGGAAAGATGGCCCAAAATGGATTAGATCATTACGTGTATAAAGTCGGGATAGCATTTAACACAGAAATATTTGGAACTTTTCGCCAAACCATAGTTTTCGACTTTGGATTGGAACCAGTACTCATGCAAAGAGTAATGATTGATGCAGCTTCTACAGAAG
Seq A exon
AGACATTGAGAGCAAGATAACTGCTTTGTTAAATTGGTGACAATCTGACAGCCTGGCTAATTTGATCTTCAGCCTCAGCCAGTTCATCATTGGATCTTCCTTGGCCTGGAATTAGGAGAAAAGTGTCATTCCAG
Seq C2 exon
ATCTCGAATACCTGATGCATGCAAAACAGCAGCTAGTAACCACAGCTAAACGTTGGGATTCTTCCTCTAAGACTATTATAGATTTTGAACCTAATGAAACTACTGATTTGGAGAAGAGCCTTCTTATCAGATACCAAATTCCCCTCTCTGCTGACCAGCTATTTACTCAGTCCGTTTTAGACAAATCATTGACCAAGAGCAACTATCAGTCACGGTTACATGACCTTCTTTATATTGAGGAGATAGCCCAGTATAAAGAAATCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198265_MULTIEX2-7/8=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.010 A=0.167 C2=0.001
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000358691fB3166
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCGGAGATAGTACTACCCAGG
R:
GCTGCTGTTTTGCATGCATCA
Band lengths:
256-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development