HsaEX0032975 @ hg19
Exon Skipping
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]
Coordinates
chr7:150648536-150652994:-
Coord C1 exon
chr7:150652484-150652994
Coord A exon
chr7:150649513-150649941
Coord C2 exon
chr7:150648536-150648923
Length
429 bp
Sequences
Splice sites
3' ss Seq
TCCGCCTTCCCCGGGTGCAGGTC
3' ss Score
8.73
5' ss Seq
GAGGTGGGG
5' ss Score
4.41
Exon sequences
Seq C1 exon
CTGGGCACCGGCGGGGCGGGGGAGCCTAGTGTGGCGGGGTGGGGGTGGGGACCTGGTAGAAGGAGGGGCCGGCTGGAGGAGCTGAGGTTCCGAGTGCGGCCGCTGCTGGGCTGGCGGGCGGGCAGAGCACGGCACCCTGGCAGCAGGGCCCACGCCACGGGGCCATGGGCAGCTCGAGCCAGGCAGGCTGCTGCCCACGCTTACTGCCAGGGTGACCCCAGCCCTGGGGCCCAGCCACAACCACCCTGGCTTCATGCCAGGGGCTGCTCTGGTTGCCAGTCGGCCAGCCTCGGGGGTGCAGCCTGGGCTGGGACTGCTGCTGGGGTGCAGGTGAGGCAGTGGCCGGGCCCTCAGGCCCCAGGGCAGGCAGGCTGCAGGGAGCCAAGTCCTCCATGGCGGCCCCAGCCGGGAAGGCGAGCAGGACAGGGGCTCTGCGGCCCAGGGCCCAGAAAGGCCGGGTGAGGCGGGCCGTGCGCATCTCCAGCCTCGTGGCCCAGGAG
Seq A exon
GTCCTGTCCCTGGGCGCCGACGTGCTGCCTGAGTACAAGCTGCAGGCACCGCGCATCCACCGCTGGACCATCCTGCATTACAGCCCCTTCAAGGCCGTGTGGGACTGGCTCATCCTGCTGCTGGTCATCTACACGGCTGTCTTCACACCCTACTCGGCTGCCTTCCTGCTGAAGGAGACGGAAGAAGGCCCGCCTGCTACCGAGTGTGGCTACGCCTGCCAGCCGCTGGCTGTGGTGGACCTCATCGTGGACATCATGTTCATTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATCGCCGTCCACTACTTCAAGGGCTGGTTCCTCATCGACATGGTGGCCGCCATCCCCTTCGACCTGCTCATCTTCGGCTCTGGCTCTGAGGAG
Seq C2 exon
CTGATCGGGCTGCTGAAGACTGCGCGGCTGCTGCGGCTGGTGCGCGTGGCGCGGAAGCTGGATCGCTACTCAGAGTACGGCGCGGCCGTGCTGTTCTTGCTCATGTGCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACACATGGACTCACGCATCGGCTGGCTGCACAACCTGGGCGACCAGATAGGCAAACCCTACAACAGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCAGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTGCGTCATGCTCATTGGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118-'6-9,'6-8,7-9
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.028 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF084125=Ion_trans_N=WD(100=36.4),PF0052026=Ion_trans=PU(31.6=45.5)
C2:
PF0052026=Ion_trans=FE(62.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAACCACCCTGGCTTCATG
R:
CGCCGTACTCTGAGTAGCGAT
Band lengths:
347-776
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)