HsaEX0033131 @ hg38
Exon Skipping
Gene
ENSG00000162687 | KCNT2
Description
potassium sodium-activated channel subfamily T member 2 [Source:HGNC Symbol;Acc:HGNC:18866]
Coordinates
chr1:196342079-196398671:-
Coord C1 exon
chr1:196398563-196398671
Coord A exon
chr1:196373140-196373248
Coord C2 exon
chr1:196342079-196342228
Length
109 bp
Sequences
Splice sites
3' ss Seq
ACCTATTTTATTTCAAACAGATC
3' ss Score
9.18
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
Exon sequences
Seq C1 exon
GATCACCAAACAATTTTGAGAGCATGGGCTGTGAAAGATTTTGCTCCAAATTGTCCTTTGTATGTCCAGATATTAAAGCCTGAAAATAAATTTCACATCAAATTTGCTG
Seq A exon
ATCATGTTGTTTGTGAAGAAGAGTTTAAATACGCCATGTTAGCTTTAAACTGTATATGCCCAGCAACATCTACACTTATTACACTACTGGTTCATACCTCTAGAGGGCA
Seq C2 exon
AGAAGGCCAGCAATCGCCAGAACAATGGCAGAAGATGTACGGTAGATGCTCCGGGAATGAAGTCTACCACATTGTTTTGGAAGAAAGTACATTTTTTGCTGAATATGAAGGAAAGAGTTTTACATATGCCTCTTTCCATGCACACAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162687_MULTIEX1-1/4=C1-4
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=0.057
Domain overlap (PFAM):
C1:
PF0349313=BK_channel_a=PU(15.6=27.0)
A:
PF0349313=BK_channel_a=FE(34.0=100)
C2:
PF0349313=BK_channel_a=FE(47.2=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAATTTTGAGAGCATGGGC
R:
TTGTGTGCATGGAAAGAGGCA
Band lengths:
248-357
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development