HsaEX0032992 @ hg19
Exon Skipping
Gene
ENSG00000183960 | KCNH8
Description
potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:HGNC Symbol;Acc:18864]
Coordinates
chr3:19384079-19389457:+
Coord C1 exon
chr3:19384079-19384206
Coord A exon
chr3:19388144-19388226
Coord C2 exon
chr3:19389217-19389457
Length
83 bp
Sequences
Splice sites
3' ss Seq
AACCTTTCTTGAATCCTCAGGTA
3' ss Score
8.4
5' ss Seq
CAAGTAATA
5' ss Score
1.48
Exon sequences
Seq C1 exon
ACAAAGTCAAAGGAAGATCAAGAGCAGGGACCCACTTTGACTCAGCCCGGAGACGGAGTCGAGCAGTCCTTTATCACATCTCTGGGCACCTGCAAAGAAGAGAAAAGAACAAATTGAAAATAAATAAC
Seq A exon
GTACTTCAGGATCCCTGAACACATCACATTAATCTGCCCTTCCCTCAATGAGTGAGACAAGAACACAACATTGTGACCTACAA
Seq C2 exon
AATGTTTTTGTAGATAAACCAGCATTTCCGGAGTATAAAGTTTCTGATGCAAAAAAGTCCAAATTCATACTTCTGCATTTTAGCACTTTTAAAGCTGGCTGGGACTGGCTTATTTTGTTGGCAACGTTTTATGTTGCTGTGACTGTACCTTACAACGTTTGCTTTATTGGCAATGACGACCTGTCCACAACTCGGAGCACAACCGTCAGTGACATTGCAGTGGAGATTCTTTTTATTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.233 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF084125=Ion_trans_N=PU(16.9=30.2)
A:
NO
C2:
PF084125=Ion_trans_N=PD(80.5=76.5),PF0052026=Ion_trans=PU(5.7=14.8)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
ACGGAGTCGAGCAGTCCTTTA
R:
CCCAGCCAGCTTTAAAAGTGC
Band lengths:
179-262
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
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)