HsaEX6036568 @ hg19
Exon Skipping
Gene
ENSG00000143473 | KCNH1
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:210970850-211093411:-
Coord C1 exon
chr1:211092982-211093411
Coord A exon
chr1:210977309-210977508
Coord C2 exon
chr1:210970850-210971102
Length
200 bp
Sequences
Splice sites
3' ss Seq
CTCCTCCTCCTCACCTCTAGCAC
3' ss Score
8.87
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GGCATCAGCAGCCTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGTCTTGGGCGAGTGGCCCGTAAGCTGGACCACTACATTGAATATGGAGCTGCTGTGCTGGTCCTGCTGGTGTGTGTGTTTGGGCTGGCTGCACACTGGATGGCCTGCATCTGGTACAGCATTGGGGACTATGAGATCTTTGACGAGGACACCAAGACAATCCGCAACAACAGCTGGCTGTACCAACTAGCGATGGACATTGGCACCCCTTACCAGTTTAATGGGTCTGGCTCAGGGAAGTGGGAAGGTGGTCCCAGCAAGAATTCTGTCTACATCTCCTCGTTGTATTTCACAATGACCAGCCTCACCAGTGTGGGCTTTGGGAACATCGCCCCATCCACAGACATTGAGAAGATCTTTGCAGTGGCCATCATGATGATTGGCT
Seq A exon
CACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCTACCAGGTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATTGTGTCCACTTGGTCCATGTCCAGAGGCATTGACACAGAGAAG
Seq C2 exon
GTCCTGCAGATCTGCCCCAAGGACATGAGAGCCGACATCTGCGTGCACCTGAACCGCAAGGTGTTCAAGGAGCACCCGGCCTTCCGGCTGGCCAGTGATGGCTGCCTCCGGGCACTGGCCATGGAGTTCCAGACGGTGCACTGTGCCCCAGGGGACCTCATCTACCATGCAGGAGAGAGCGTTGACAGCCTCTGCTTTGTGGTTTCTGGCTCCCTGGAGGTGATCCAAGATGATGAGGTGGTGGCCATTCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473-'7-7,'7-6,8-7=AN
Average complexity
A_C1
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=FE(57.9=100)
A:
PF0052026=Ion_trans=PD(4.0=14.9)
C2:
PF0002724=cNMP_binding=PU(45.5=47.1),PF078836=Cupin_2=PU(85.4=48.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCCATCCACAGACATTGAG
R:
GCCACCACCTCATCATCTTGG
Band lengths:
300-500
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)