HsaEX0033121 @ hg38
Exon Skipping
Gene
ENSG00000162687 | KCNT2
Description
potassium sodium-activated channel subfamily T member 2 [Source:HGNC Symbol;Acc:HGNC:18866]
Coordinates
chr1:196398563-196408364:-
Coord C1 exon
chr1:196408195-196408364
Coord A exon
chr1:196405959-196406141
Coord C2 exon
chr1:196398563-196398671
Length
183 bp
Sequences
Splice sites
3' ss Seq
AACCTTATACTTTTTAACAGTCT
3' ss Score
6.04
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
TGGGAAAGATTTTGGCCAGTAAATATGATAAATATCTACCAAAGATGGCAAAATTGATCATGAAAGAAAATAATAGGATGTGATCTTATGCAGGAGTGGAAGGTTTTTCTTGGATAAGGGTGTAAAACTTTCGTCCATTTTAACAAAAGGGAAAACAGTATATATAGAAG
Seq A exon
TCTACATATTAGACCTGGATGTTCTAATTATGAACAAAATAGACCCTGACCTCAAGGTGCTTTTGAGTCCAATCTACTGTGAGGCCTTCCTAGGGCCATCTGTGAAGAAATTGTTCTCTGGGCAAGGATCACATTTGGCAAGAATTGTTTATACAACAATACATTCGAATGTTTTCAAGACAG
Seq C2 exon
GATCACCAAACAATTTTGAGAGCATGGGCTGTGAAAGATTTTGCTCCAAATTGTCCTTTGTATGTCCAGATATTAAAGCCTGAAAATAAATTTCACATCAAATTTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162687_MULTIEX5-7/7=6-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0349313=BK_channel_a=PU(15.6=27.0)
Main Inclusion Isoform:
ENST00000294725fB3520
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAAAGATTTTGGCCAGTA
R:
TCAGGCTTTAATATCTGGACATACA
Band lengths:
253-436
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