HsaEX0032991 @ hg38
Exon Skipping
Gene
ENSG00000183960 | KCNH8
Description
potassium voltage-gated channel subfamily H member 8 [Source:HGNC Symbol;Acc:HGNC:18864]
Coordinates
chr3:19148454-19281329:+
Coord C1 exon
chr3:19148454-19148795
Coord A exon
chr3:19253654-19253887
Coord C2 exon
chr3:19281198-19281329
Length
234 bp
Sequences
Splice sites
3' ss Seq
TTCTCCTTGTTTTTCTATAGATA
3' ss Score
10.39
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
GGGAGAGGGAGCCTGCGCCGGGCTGAGCCTGGAGGTGCGGGGCGGGCTCGGGGAGCGCTCTTGGGGCTCCTCCTGCCACAGCCGGGGCGGCTGGAACTCTCTCCCTTTCTCCCTCCATCCTTCCACTTCCCCTGCTCGGCCCCGCCGTCAGGCCGGGTCCCCCTTCCCTGCCGTCATCAGGTTCCCCTTCTCCCTTCTTGGCACTTTCCTTTCGAACCATCCTTCTGGACAAACTTTGATGGAGAATTTCACACCACGCTGGAAAAATGCCGGTTATGAAAGGATTACTGGCGCCGCAAAACACCTTCCTGGACACCATCGCCACCCGTTTTGACGGAACAC
Seq A exon
ATAGCAACTTCATCCTTGCCAATGCCCAGGTGGCTAAGGGTTTCCCCATAGTCTACTGTTCCGATGGCTTCTGCGAGCTTGCTGGATTTGCCCGAACTGAAGTCATGCAGAAGAGTTGTAGCTGCAAGTTCTTATTTGGGGTTGAAACCAATGAGCAACTGATGCTTCAAATAGAAAAGTCACTGGAGGAGAAAACAGAATTCAAAGGAGAAATTATGTTCTACAAGAAAAACG
Seq C2 exon
GGTCTCCATTTTGGTGCCTACTGGATATTGTTCCCATAAAGAATGAAAAAGGAGATGTAGTACTTTTTCTGGCCTCGTTCAAAGATATAACAGATACAAAAGTGAAGATTACTCCAGAAGATAAAAAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960-'0-6,'0-1,7-6
Average complexity
C2
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=0.119
Domain overlap (PFAM):
C1:
PF134261=PAS_9=PU(0.1=0.0)
A:
PF134261=PAS_9=PU(70.6=97.5)
C2:
PF134261=PAS_9=PD(28.4=68.9)
Main Skipping Isoform:
ENST00000328405fB17986
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCTTCCACTTCCCCTGCTC
R:
TTGAACGAGGCCAGAAAAAGT
Band lengths:
308-542
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development