Special

HsaEX0032976 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49932940-49935547:+
Coord C1 exon
chr12:49932940-49933275
Coord A exon
chr12:49934682-49934915
Coord C2 exon
chr12:49935413-49935547
Length
234 bp
Sequences
Splice sites
3' ss Seq
TGAGAAGTGCTCTCTTGCAGACA
3' ss Score
5.53
5' ss Seq
GCGGTGAGG
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGCCGCGGGGCCTGGAGCCCGGGATTTGTGGGCGGCGAGGGCGCGAGGGGCCGCGCGCCATGCTCCGGGCCCCGACGGCGCGGACGCCCCCTCGCGCGCCAGCGTCCGGCGCGACCCCGGATCCCGGTCTGCGCATTGCCCCCCGACGGCTGCGCTAGGGAGCGCGGGGCCCGGCGGGGGGCGGCCGAGCTGGGCGCCCTCCCCCGGCGCGGAGTCCCCGCACCCCGGAGGGATGGGGCGGGCAGCCGCGGGCGCCTAAGATGCCGGCCATGCGGGGCCTCCTGGCGCCGCAGAACACCTTCCTGGACACCATCGCTACGCGCTTCGACGGCACGC
Seq A exon
ACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCG
Seq C2 exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.013 C2=0.261
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCCCGGTCTGCGCATTG
R:
AGACTAGGAAGAGAGCCACCTC
Band lengths:
292-526
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development