Special

HsaEX0032980 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 4 [Source:HGNC Symbol;Acc:6253]
Coordinates
chr17:40315624-40317711:-
Coord C1 exon
chr17:40317467-40317711
Coord A exon
chr17:40316148-40316186
Coord C2 exon
chr17:40315624-40315976
Length
39 bp
Sequences
Splice sites
3' ss Seq
ACTCTCCTATGTCCCCACAGGGC
3' ss Score
12.76
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
GGAAGGGGGACCTGATTGGAGCAGATATCCCTGAGCCGGGGCAGGAGCCTGGGTTGGGAGCAGACCCAAACTTCGTGCTAAAGACCAGTGCTGATGTGAAAGCTCTGACCTACTGTGGCCTGCAGCAGCTGAGCAGCCGAGGGCTGGCTGAGGTCCTGAGGCTCTATCCTGAGTATGGGGCTGCCTTCCGGGCTGGCCTGCCCCGGGACCTCACCTTCAACCTGCGCCAGGGCTCTGACACCAGT
Seq A exon
GGCCTCAGCCGCTTTTCCCGATCCCCTCGCCTCTCCCAG
Seq C2 exon
CCCCGCTCAGAAAGCCTCGGCTCCTCCTCAGACAAGACGCTGCCATCCATCACAGAGGCCGAGAGTGGCGCGGAGCCTGGGGGTGGTCCCAGGCCCCGACGGCCCCTCCTGCTGCCCAACCTCAGCCCAGCACGGCCTCGGGGCTCCCTGGTCAGCCTTTTGGGCGAGGAGCTGCCCCCATTCTCAGCCCTTGTCTCCTCTCCTTCCTTATCCCCATCCCTGTCCCCTGCCCTGGCTGGCCAGGGCCACAGTGCCTCCCCTCACGGCCCCCCCAGGTGCTCTGCTGCCTGGAAGCCCCCTCAGCTTCTCATTCCCCCACTGGGAACCTTTGGACCTCCGGACCTCAGTCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558-'10-11,'10-10,11-11
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.146 A=0.923 C2=0.864
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PD(58.2=69.5)
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)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATCCTGAGTATGGGGCTGCC
R:
AGCGTCTTGTCTGAGGAGGAG
Band lengths:
122-161
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development