HsaEX6054692 @ hg19
Exon Skipping
Gene
ENSG00000183960 | KCNH8
Description
potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:HGNC Symbol;Acc:18864]
Coordinates
chr3:19551855-19556920:+
Coord C1 exon
chr3:19551855-19551893
Coord A exon
chr3:19554462-19554817
Coord C2 exon
chr3:19556814-19556920
Length
356 bp
Sequences
Splice sites
3' ss Seq
TATATTATCCACTGATTTAGTCA
3' ss Score
3.76
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GTGATATCAAGACTATCAAACAAATCTATGGTCTCACAG
Seq A exon
TCAGAGCCCAAGGGAAATGGCAACATCAACAAGCGACTCCCATCCATTGTGGAAGATGAGGAAGAGGAGGAGGAGGGGGAGGAAGAGGAGGCAGTCTCCCTCTCTCCCATCTGCACAAGGGGATCTTCTTCGCGCAACAAGAAGGTTGGAAGCAATAAAGCCTACCTGGGCTTAAGCTTAAAGCAACTGGCCTCGGGAACGGTGCCCTTTCACTCGCCTATCAGAGTCTCCAGGTCAAATTCCCCCAAAACCAAGCAGGAAATTGACCCCCCCAACCATAATAAAAGGAAAGAGAAGAACTTGAAATTGCAACTTTCAACTTTGAATAATGCTGGACCCCCAGACCTCAGTCCAAG
Seq C2 exon
GATTGTTGATGGAATTGAAGATGGAAACAGCAGTGAAGAAAGTCAGACTTTTGATTTTGGCTCTGAACGAATCAGATCAGAGCCCAGAATTTCTCCTCCTCTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960-'14-15,'14-14,15-15=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.769 A=0.815 C2=0.973
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF067578=Ins_allergen_rp=PU(2.4=5.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 27453045
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, coimmunoprecipitation. ELM ID: ELMI003176; ELM sequence: LPSIVE; Overlap: FULL
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)