Special

HsaEX0032986 @ hg38

Exon Skipping

Gene
Description
potassium voltage-gated channel subfamily H member 6 [Source:HGNC Symbol;Acc:HGNC:18862]
Coordinates
chr17:63542241-63544411:+
Coord C1 exon
chr17:63542241-63542434
Coord A exon
chr17:63543576-63543660
Coord C2 exon
chr17:63544249-63544411
Length
85 bp
Sequences
Splice sites
3' ss Seq
ACCCTCTTGCTTCCCATAAGGCA
3' ss Score
5.34
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GAAAGAATGACATCTTTGGGGAACCCGTCAGCCTCCATGCCCAGCCAGGCAAGTCCAGTGCAGACGTGCGGGCTCTGACCTACTGCGACCTGCACAAGATCCAGCGGGCAGATCTGCTGGAGGTGCTGGACATGTACCCGGCCTTTGCGGAGAGCTTCTGGAGTAAGCTGGAGGTCACCTTCAACCTGCGGGAC
Seq A exon
GCAGCCGGGGGTCTCCACTCATCCCCCCGACAGGCTCCTGGCAGCCAAGACCACCAAGGTTTCTTTCTCAGTGACAACCAGTCAG
Seq C2 exon
ATGCAGCCCCTCCCCTGAGCATCTCAGATGCATCTGGCCTCTGGCCTGAGCTACTGCAGGAAATGCCCCCAAGGCACAGCCCCCAAAGCCCTCAGGAAGACCCAGATTGCTGGCCTCTGAAGCTGGGCTCCAGGCTAGAGCAGCTCCAGGCCCAGATGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000173826_MULTIEX1-2/4=C1-4
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.802 C2=0.741
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PD(53.4=72.3)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000456941fB17982


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAGGTGCTGGACATGTAC
R:
CTGGGTCTTCCTGAGGGCTTT
Band lengths:
183-268
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