HsaEX6036567 @ hg19
Exon Skipping
Gene
ENSG00000143473 | KCNH1
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:211263904-211280719:-
Coord C1 exon
chr1:211280596-211280719
Coord A exon
chr1:211276838-211276944
Coord C2 exon
chr1:211263904-211264032
Length
107 bp
Sequences
Splice sites
3' ss Seq
AGTTCTTTGGTTGTTTGCAGTTT
3' ss Score
7.3
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
ATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGGCCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGGGCAGAAGTGATGCAAAAAAGCAGCACCTGCAG
Seq A exon
TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA
Seq C2 exon
GGACACCTGTGTGGTTCTTTGTGAAAATTGCTCCAATTCGAAACGAACAGGATAAAGTGGTTTTATTTCTTTGCACTTTCAGTGACATAACAGCTTTCAAACAGCCAATTGAGGATGATTCATGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473-'1-2,'1-1,2-2=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF134261=PAS_9=PU(35.8=90.5)
A:
PF134261=PAS_9=FE(34.0=100)
C2:
PF134261=PAS_9=PD(29.2=70.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTGTGTTGGGGAATGCTCAGA
R:
ACATGAATCATCCTCAATTGGCTGT
Band lengths:
242-349
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)