HsaEX0032970 @ hg19
Exon Skipping
Gene
ENSG00000143473 | KCNH1
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:210948690-210977508:-
Coord C1 exon
chr1:210977309-210977508
Coord A exon
chr1:210970850-210971102
Coord C2 exon
chr1:210948690-210948886
Length
253 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCTGTACCTGGCTAGGTC
3' ss Score
9.18
5' ss Seq
TAGGTAGGT
5' ss Score
7.92
Exon sequences
Seq C1 exon
CACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCTACCAGGTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATTGTGTCCACTTGGTCCATGTCCAGAGGCATTGACACAGAGAAG
Seq A exon
GTCCTGCAGATCTGCCCCAAGGACATGAGAGCCGACATCTGCGTGCACCTGAACCGCAAGGTGTTCAAGGAGCACCCGGCCTTCCGGCTGGCCAGTGATGGCTGCCTCCGGGCACTGGCCATGGAGTTCCAGACGGTGCACTGTGCCCCAGGGGACCTCATCTACCATGCAGGAGAGAGCGTTGACAGCCTCTGCTTTGTGGTTTCTGGCTCCCTGGAGGTGATCCAAGATGATGAGGTGGTGGCCATTCTAG
Seq C2 exon
GAAAAGGAGACGTGTTTGGAGATGTGTTCTGGAAGGAAGCCACCCTTGCCCAGTCCTGTGCCAATGTTAGGGCCTTGACCTACTGTGATCTGCATGTGATCAAGCGGGATGCCCTGCAGAAAGTGCTGGAATTCTACACGGCCTTCTCCCATTCCTTCTCCCGGAACCTGATTCTGACGTACAACTTGAGGAAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473_CASSETTE1
Average complexity
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:
PF0052026=Ion_trans=PD(4.0=14.9)
A:
PF0002724=cNMP_binding=PU(45.5=47.1),PF078836=Cupin_2=PU(85.4=48.2)
C2:
PF0002724=cNMP_binding=PD(53.4=71.2),PF078836=Cupin_2=PD(12.5=9.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCACCATCTTCGGGAATG
R:
CCCGCTTGATCACATGCAGAT
Band lengths:
299-552
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)