HsaEX1018357 @ hg38
Exon Skipping
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel subfamily H member 3 [Source:HGNC Symbol;Acc:HGNC:6252]
Coordinates
chr12:49541630-49542839:+
Coord C1 exon
chr12:49541630-49541764
Coord A exon
chr12:49542334-49542408
Coord C2 exon
chr12:49542706-49542839
Length
75 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGGTCCCTGCACTAGCTC
3' ss Score
5.4
5' ss Seq
GAGGTACCT
5' ss Score
7.63
Exon sequences
Seq C1 exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
Seq A exon
CTCCTGGGCTCCTGCTGTAAGTTCCCACACCTCTGCTGACGGCCTCCTGCTAGTTCTCCACCCTGGCCCTGTGAG
Seq C2 exon
GTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.223 A=0.000 C2=0.333
Domain overlap (PFAM):
C1:
PF134261=PAS_9=PD(28.7=67.4),PF051168=S6PP=PD(37.4=73.9)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000257981fB17981
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
CCGTTCTGGTGTCTCCTGGAT
R:
TTGAAGCCTTTGGATCGTGCC
Band lengths:
176-251
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains