Special

HsaEX6066387 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49934682-49936622:+
Coord C1 exon
chr12:49934682-49934915
Coord A exon
chr12:49935413-49935547
Coord C2 exon
chr12:49936489-49936622
Length
135 bp
Sequences
Splice sites
3' ss Seq
GAGTTTGTTTTTGTGCCCAGGGC
3' ss Score
7.4
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
ACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCG
Seq A exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
Seq C2 exon
GTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-'1-2,'1-1,2-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.013 A=0.261 C2=0.333
Domain overlap (PFAM):

C1:
PF134261=PAS_9=PU(70.1=94.9),PF051168=S6PP=PU(60.2=67.1)
A:
PF134261=PAS_9=PD(29.0=67.4),PF051168=S6PP=PD(38.6=73.9)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTTCCCCGTGGTCTACT
R:
TTGAAGCCTTTGGATCGTGCC
Band lengths:
243-378
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains