Special

HsaEX6066381 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49948120-49950259:+
Coord C1 exon
chr12:49948120-49948337
Coord A exon
chr12:49949403-49949734
Coord C2 exon
chr12:49950153-49950259
Length
332 bp
Sequences
Splice sites
3' ss Seq
CTGTCCCTCACTATCCCTAGGTG
3' ss Score
11.26
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGAAGGGCGACCTGATCGGCTGTGAGCTGCCCCGGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACAGCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTGCAGAG
Seq A exon
GTGGACACCAGCTCCCTGAGCGGCGACAATACCCTTATGTCCACGCTGGAGGAGAAGGAGACAGATGGGGAGCAGGGCCCCACGGTCTCCCCAGCCCCAGCTGATGAGCCCTCCAGCCCCCTGCTGTCCCCTGGCTGCACCTCCTCATCCTCAGCTGCCAAGCTGCTATCCCCACGTCGAACAGCACCCCGGCCTCGTCTAGGTGGCAGAGGGAGGCCAGGCAGGGCAGGGGCTTTGAAGGCTGAGGCTGGCCCCTCTGCTCCCCCACGGGCCCTAGAGGGGCTACGGCTGCCCCCCATGCCATGGAATGTGCCCCCAGATCTGAGCCCCAG
Seq C2 exon
GGTAGTAGATGGCATTGAAGACGGCTGTGGCTCGGACCAGCCCAAGTTCTCTTTCCGCGTGGGCCAGTCTGGCCCGGAATGTAGCAGCAGCCCCTCCCCTGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-'10-11,'10-10,11-11=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=0.041 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PD(53.4=64.4)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCTGATCGGCTGTGAGCT
R:
GAGGGGCTGCTGCTACATTC
Band lengths:
306-638
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains