HsaEX6066381 @ hg38
Exon Skipping
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel subfamily H member 3 [Source:HGNC Symbol;Acc:HGNC:6252]
Coordinates
chr12:49554337-49556476:+
Coord C1 exon
chr12:49554337-49554554
Coord A exon
chr12:49555620-49555951
Coord C2 exon
chr12:49556370-49556476
Length
332 bp
Sequences
Splice sites
3' ss Seq
CTGTCCCTCACTATCCCTAGGTG
3' ss Score
11.26
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGAAGGGCGACCTGATCGGCTGTGAGCTGCCCCGGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACAGCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTGCAGAG
Seq A exon
GTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCACGCTGGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGGTCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGGCTGCACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCACGTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAGGGCAGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCCCACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCCCCCAGATCTGAGCCCCAG
Seq C2 exon
GGTAGTAGATGGCATTGAAGACGGCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGGCCCGGAATGTAGCAGCAGCCCCTCCCCTGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519_MULTIEX2-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.078 A=0.967 C2=0.987
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PD(53.4=64.4)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
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:
GACCTGATCGGCTGTGAGCT
R:
GAGGGGCTGCTGCTACATTC
Band lengths:
306-638
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains