Special

HsaEX0032985 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 5 [Source:HGNC Symbol;Acc:6254]
Coordinates
chr14:63246446-63316570:-
Coord C1 exon
chr14:63316371-63316570
Coord A exon
chr14:63269047-63269299
Coord C2 exon
chr14:63246446-63246642
Length
253 bp
Sequences
Splice sites
3' ss Seq
TCATCTCTCACCTTCTTTAGGTC
3' ss Score
10.54
5' ss Seq
TAGGTACTG
5' ss Score
5.9
Exon sequences
Seq C1 exon
CTCTTCTTTATGCAACTATTTTTGGAAATGTTACAACAATTTTCCAGCAAATGTATGCCAACACCAACCGATACCATGAGATGCTGAATAATGTACGGGACTTCCTAAAACTCTATCAGGTCCCAAAAGGCCTTAGTGAGCGAGTCATGGATTATATTGTCTCAACATGGTCCATGTCAAAAGGCATTGATACAGAAAAG
Seq A exon
GTCCTCTCCATCTGTCCCAAGGACATGAGAGCTGATATCTGTGTTCATCTAAACCGGAAGGTTTTTAATGAACATCCTGCTTTTCGATTGGCCAGCGATGGGTGTCTGCGCGCCTTGGCGGTAGAGTTCCAAACCATTCACTGTGCTCCCGGGGACCTCATTTACCATGCTGGAGAAAGTGTGGATGCCCTCTGCTTTGTGGTGTCAGGATCCTTGGAAGTCATCCAGGATGATGAGGTGGTGGCTATTTTAG
Seq C2 exon
GGAAGGGTGATGTATTTGGAGACATCTTCTGGAAGGAAACCACCCTTGCCCATGCATGTGCGAACGTCCGGGCACTGACGTACTGTGACCTACACATCATCAAGCGGGAAGCCTTGCTCAAAGTCCTGGACTTTTATACAGCTTTTGCAAACTCCTTCTCAAGGAATCTCACTCTTACTTGCAATCTGAGGAAACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140015-'9-12,'9-10,10-12
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0052026=Ion_trans=PD(4.6=14.9)
A:
PF0002724=cNMP_binding=PU(45.5=47.1),PF078836=Cupin_2=PU(64.1=48.2)
C2:
PF0002724=cNMP_binding=PD(53.4=71.2),PF078836=Cupin_2=PD(34.4=33.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAACACCAACCGATACCAT
R:
AGAAGGAGTTTGCAAAAGCTGT
Band lengths:
303-556
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