Special

HsaEX6066386 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49935413-49937301:+
Coord C1 exon
chr12:49935413-49935547
Coord A exon
chr12:49936489-49936622
Coord C2 exon
chr12:49937058-49937301
Length
134 bp
Sequences
Splice sites
3' ss Seq
GGGCCCCTCTTCTTTCGCAGGTG
3' ss Score
10.44
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
Seq A exon
GTGGTGGCCGGCGCCGATATGGCCGGGCACGATCCAAAGGCTTCAATGCCAACCGGCGGCGGAGCCGGGCCGTGCTCTACCACCTGTCCGGGCACCTGCAGAAGCAGCCCAAGGGCAAGCACAAGCTCAATAAG
Seq C2 exon
GGGGTGTTTGGGGAGAAACCAAACTTGCCTGAGTACAAAGTAGCCGCCATCCGGAAGTCGCCCTTCATCCTGTTGCACTGTGGGGCACTGAGAGCCACCTGGGATGGCTTCATCCTGCTCGCCACACTCTATGTGGCTGTCACTGTGCCCTACAGCGTGTGTGTGAGCACAGCACGGGAGCCCAGTGCCGCCCGCGGCCCGCCCAGCGTCTGTGACCTGGCCGTGGAGGTCCTCTTCATCCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-'2-3,'2-2,3-3=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=0.261 A=0.333 C2=0.012
Domain overlap (PFAM):

C1:
PF134261=PAS_9=PD(29.0=67.4),PF051168=S6PP=PD(38.6=73.9)
A:
NO
C2:
PF0052026=Ion_trans=PU(5.0=14.6)


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:
GGGAGGTGGCTCTCTTCCTAG
R:
GTGCTCACACACACGCTGTAG
Band lengths:
254-388
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains