HsaEX0032969 @ hg19
Exon Skipping
Gene
ENSG00000143473 | KCNH1
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:210977309-211192598:-
Coord C1 exon
chr1:211192206-211192598
Coord A exon
chr1:211092982-211093411
Coord C2 exon
chr1:210977309-210977508
Length
430 bp
Sequences
Splice sites
3' ss Seq
CTGTGTTCCTCTTCTCCCAGGGC
3' ss Score
10.36
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTCCTACAGCTGGGCTCAGACATCCTTCCCCAGTACAAGCAAGAGGCACCAAAGACTCCCCCTCACATCATCTTACATTATTGTGTTTTTAAGACCACGTGGGATTGGATCATCTTGATCTTGACCTTCTATACAGCCATCTTGGTCCCTTATAATGTCTCCTTCAAAACCAGGCAGAATAATGTGGCCTGGCTGGTTGTTGATAGCATCGTGGATGTTATCTTTTTGGTGGACATTGTGCTCAATTTTCATACCACCTTTGTTGGACCAGCAGGGGAGGTGATTTCTGACCCCAAACTTATCCGCATGAACTACCTGAAGACGTGGTTTGTGATTGACCTTCTGTCCTGTTTGCCATATGATGTCATCAACGCTTTTGAGAACGTGGATGAG
Seq A exon
GGCATCAGCAGCCTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGTCTTGGGCGAGTGGCCCGTAAGCTGGACCACTACATTGAATATGGAGCTGCTGTGCTGGTCCTGCTGGTGTGTGTGTTTGGGCTGGCTGCACACTGGATGGCCTGCATCTGGTACAGCATTGGGGACTATGAGATCTTTGACGAGGACACCAAGACAATCCGCAACAACAGCTGGCTGTACCAACTAGCGATGGACATTGGCACCCCTTACCAGTTTAATGGGTCTGGCTCAGGGAAGTGGGAAGGTGGTCCCAGCAAGAATTCTGTCTACATCTCCTCGTTGTATTTCACAATGACCAGCCTCACCAGTGTGGGCTTTGGGAACATCGCCCCATCCACAGACATTGAGAAGATCTTTGCAGTGGCCATCATGATGATTGGCT
Seq C2 exon
CACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCTACCAGGTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATTGTGTCCACTTGGTCCATGTCCAGAGGCATTGACACAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473-'5-6,'5-5,7-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF084125=Ion_trans_N=WD(100=45.0),PF0052026=Ion_trans=PU(29.5=49.6)
A:
PF0052026=Ion_trans=FE(57.9=100)
C2:
PF0052026=Ion_trans=PD(4.0=14.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAATAATGTGGCCTGGCT
R:
CCTTTTGGCACCTGGTAGAGC
Band lengths:
350-780
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)