Special

HsaEX6071635 @ hg38

Exon Skipping

Gene
Description
potassium voltage-gated channel subfamily H member 5 [Source:HGNC Symbol;Acc:HGNC:6254]
Coordinates
chr14:62802329-62950559:-
Coord C1 exon
chr14:62950133-62950559
Coord A exon
chr14:62849653-62849852
Coord C2 exon
chr14:62802329-62802581
Length
200 bp
Sequences
Splice sites
3' ss Seq
TATCATTTCTTCTCTTTCAGCTC
3' ss Score
11.51
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
GGAATCAGCAGTCTCTTCAGTTCTTTAAAAGTGGTGCGTCTCTTACGACTGGGCCGTGTGGCTAGGAAACTGGACCATTACCTAGAATATGGAGCAGCAGTCCTCGTGCTCCTGGTGTGTGTGTTTGGACTGGTGGCCCACTGGCTGGCCTGCATATGGTATAGCATCGGAGACTACGAGGTCATTGATGAAGTCACTAACACCATCCAAATAGACAGTTGGCTCTACCAGCTGGCTTTGAGCATTGGGACTCCATATCGCTACAATACCAGTGCTGGGATATGGGAAGGAGGACCCAGCAAGGATTCATTGTACGTGTCCTCTCTCTACTTTACCATGACAAGCCTTACAACCATAGGATTTGGAAACATAGCTCCTACCACAGATGTGGAGAAGATGTTTTCGGTGGCTATGATGATGGTTGGCT
Seq A exon
CTCTTCTTTATGCAACTATTTTTGGAAATGTTACAACAATTTTCCAGCAAATGTATGCCAACACCAACCGATACCATGAGATGCTGAATAATGTACGGGACTTCCTAAAACTCTATCAGGTCCCAAAAGGCCTTAGTGAGCGAGTCATGGATTATATTGTCTCAACATGGTCCATGTCAAAAGGCATTGATACAGAAAAG
Seq C2 exon
GTCCTCTCCATCTGTCCCAAGGACATGAGAGCTGATATCTGTGTTCATCTAAACCGGAAGGTTTTTAATGAACATCCTGCTTTTCGATTGGCCAGCGATGGGTGTCTGCGCGCCTTGGCGGTAGAGTTCCAAACCATTCACTGTGCTCCCGGGGACCTCATTTACCATGCTGGAGAAAGTGTGGATGCCCTCTGCTTTGTGGTGTCAGGATCCTTGGAAGTCATCCAGGATGATGAGGTGGTGGCTATTTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140015-'13-18,'13-16,16-18=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(64.8=100)
A:
PF0052026=Ion_trans=PD(4.6=14.9)
C2:
PF0002724=cNMP_binding=PU(45.5=47.1)


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:
TGCTGGGATATGGGAAGGAGG
R:
CGGGAGCACAGTGAATGGTTT
Band lengths:
306-506
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains