HsaEX0032972 @ hg19
Exon Skipping
Gene
ENSG00000143473 | KCNH1
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:211192125-211276944:-
Coord C1 exon
chr1:211276838-211276944
Coord A exon
chr1:211256122-211256240
Coord C2 exon
chr1:211192125-211192598
Length
119 bp
Sequences
Splice sites
3' ss Seq
CACTCTTCCACTTGCTTCAGGCT
3' ss Score
7.01
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA
Seq A exon
GCTGGGGGAAGTTTGCTCGGCTGACAAGAGCACTGACAAGCAGCAGGGGTGTCCTGCAGCAGCTGGCTCCAAGCGTGCAAAAAGGCGAGAATGTCCACAAGCACTCCCGCCTGGCAGAG
Seq C2 exon
GTCCTACAGCTGGGCTCAGACATCCTTCCCCAGTACAAGCAAGAGGCACCAAAGACTCCCCCTCACATCATCTTACATTATTGTGTTTTTAAGACCACGTGGGATTGGATCATCTTGATCTTGACCTTCTATACAGCCATCTTGGTCCCTTATAATGTCTCCTTCAAAACCAGGCAGAATAATGTGGCCTGGCTGGTTGTTGATAGCATCGTGGATGTTATCTTTTTGGTGGACATTGTGCTCAATTTTCATACCACCTTTGTTGGACCAGCAGGGGAGGTGATTTCTGACCCCAAACTTATCCGCATGAACTACCTGAAGACGTGGTTTGTGATTGACCTTCTGTCCTGTTTGCCATATGATGTCATCAACGCTTTTGAGAACGTGGATGAGGTTAGTGCCTTTATGGGTGATCCAGGGAAGATTGGTTTTGCTGATCAGATTCCACCACCACTGGAGGGGAGAGAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473_MULTIEX1-2/4=C1-3
Average complexity
C2
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=FE(34.0=100)
A:
NO
C2:
PF084125=Ion_trans_N=WD(100=37.3),PF0052026=Ion_trans=PU(37.2=58.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCGGCAAACATTTGAGAACT
R:
AGCCAGGCCACATTATTCTGC
Band lengths:
258-377
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)