HsaEX0032975 @ hg38
Exon Skipping
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
Coordinates
chr7:150948856-150957502:-
Coord C1 exon
chr7:150957291-150957502
Coord A exon
chr7:150952425-150952853
Coord C2 exon
chr7:150948856-150949049
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
GGGCCATGCACCCACTGCGCAGCGGCTTGCTCAACTCCACCTCGGACTCCGACCTCGTGCGCTACCGCACCATTAGCAAGATTCCCCAAATCACCCTCAACTTTGTGGACCTCAAGGGCGACCCCTTCTTGGCTTCGCCCACCAGTGACCGTGAGATCATAGCACCTAAGATAAAGGAGCGAACCCACAATGTCACTGAGAAGGTCACCCAG
Seq A exon
GTCCTGTCCCTGGGCGCCGACGTGCTGCCTGAGTACAAGCTGCAGGCACCGCGCATCCACCGCTGGACCATCCTGCATTACAGCCCCTTCAAGGCCGTGTGGGACTGGCTCATCCTGCTGCTGGTCATCTACACGGCTGTCTTCACACCCTACTCGGCTGCCTTCCTGCTGAAGGAGACGGAAGAAGGCCCGCCTGCTACCGAGTGTGGCTACGCCTGCCAGCCGCTGGCTGTGGTGGACCTCATCGTGGACATCATGTTCATTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATCGCCGTCCACTACTTCAAGGGCTGGTTCCTCATCGACATGGTGGCCGCCATCCCCTTCGACCTGCTCATCTTCGGCTCTGGCTCTGAGGAG
Seq C2 exon
GGAAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAGGTGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGGAGATCACCTTCAACCTGCGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118_MULTIEX1-1/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.169 A=0.000 C2=0.015
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(31.6=45.5)
C2:
PF0002724=cNMP_binding=PD(53.4=72.3)
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:
GCTACCGCACCATTAGCAAGA
R:
CGCAGGTTGAAGGTGATCTCC
Band lengths:
342-771
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