Special

HsaEX6054698 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:HGNC Symbol;Acc:18864]
Coordinates
chr3:19322690-19389457:+
Coord C1 exon
chr3:19322690-19322821
Coord A exon
chr3:19384079-19384206
Coord C2 exon
chr3:19389217-19389457
Length
128 bp
Sequences
Splice sites
3' ss Seq
TGAGTTTTATTTTCCCCCAGACA
3' ss Score
8.97
5' ss Seq
AACGTAGGT
5' ss Score
7.3
Exon sequences
Seq C1 exon
GGTCTCCATTTTGGTGCCTACTGGATATTGTTCCCATAAAGAATGAAAAAGGAGATGTAGTACTTTTTCTGGCCTCGTTCAAAGATATAACAGATACAAAAGTGAAGATTACTCCAGAAGATAAAAAAGAAG
Seq A exon
ACAAAGTCAAAGGAAGATCAAGAGCAGGGACCCACTTTGACTCAGCCCGGAGACGGAGTCGAGCAGTCCTTTATCACATCTCTGGGCACCTGCAAAGAAGAGAAAAGAACAAATTGAAAATAAATAAC
Seq C2 exon
AATGTTTTTGTAGATAAACCAGCATTTCCGGAGTATAAAGTTTCTGATGCAAAAAAGTCCAAATTCATACTTCTGCATTTTAGCACTTTTAAAGCTGGCTGGGACTGGCTTATTTTGTTGGCAACGTTTTATGTTGCTGTGACTGTACCTTACAACGTTTGCTTTATTGGCAATGACGACCTGTCCACAACTCGGAGCACAACCGTCAGTGACATTGCAGTGGAGATTCTTTTTATTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960-'2-5,'2-2,3-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.122 A=0.233 C2=0.000
Domain overlap (PFAM):

C1:
PF134261=PAS_9=PD(28.4=68.9)
A:
PF084125=Ion_trans_N=PU(16.9=30.2)
C2:
PF084125=Ion_trans_N=PD(80.5=76.5),PF0052026=Ion_trans=PU(5.7=14.8)


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:
TCCATTTTGGTGCCTACTGGA
R:
AAATAAGCCAGTCCCAGCCAG
Band lengths:
243-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains