HsaEX6066386 @ hg38
Exon Skipping
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel subfamily H member 3 [Source:HGNC Symbol;Acc:HGNC:6252]
Coordinates
chr12:49541630-49543518:+
Coord C1 exon
chr12:49541630-49541764
Coord A exon
chr12:49542706-49542839
Coord C2 exon
chr12:49543275-49543518
Length
134 bp
Sequences
Splice sites
3' ss Seq
GGGCCCCTCTTCTTTCGCAGGTG
3' ss Score
10.44
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
Seq A exon
GTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAG
Seq C2 exon
GGGGTGTTTGGGGAGAAACCAAACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCTGTTGCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCATCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTGTGTGAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGCCCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-'3-8,'3-7,5-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.223 A=0.333 C2=0.012
Domain overlap (PFAM):
C1:
PF134261=PAS_9=PD(28.7=67.4),PF051168=S6PP=PD(37.4=73.9)
A:
NO
C2:
PF0052026=Ion_trans=PU(5.0=14.6)
Main Skipping Isoform:
ENST00000257981fB17981
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGGAGGTGGCTCTCTTCCTAG
R:
GTGCTCACACACACGCTGTAG
Band lengths:
254-388
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains