Special

HsaEX6054693 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:HGNC Symbol;Acc:18864]
Coordinates
chr3:19498260-19554817:+
Coord C1 exon
chr3:19498260-19498474
Coord A exon
chr3:19551855-19551893
Coord C2 exon
chr3:19554462-19554817
Length
39 bp
Sequences
Splice sites
3' ss Seq
ACTTCTGTTTGTTCTTTCAGGTG
3' ss Score
13.05
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
GGAAAGGGGATTTAATTGGAGCAAATCTATCAATTAAGGACCAAGTGATCAAGACCAATGCAGATGTAAAGGCTTTAACCTACTGTGATCTCCAGTGTATCATCCTCAAAGGACTCTTTGAAGTGCTAGACCTTTACCCAGAATATGCTCACAAATTCGTGGAAGACATTCAGCATGACCTCACATACAACCTCCGAGAAGGTCATGAGAGTGAT
Seq A exon
GTGATATCAAGACTATCAAACAAATCTATGGTCTCACAG
Seq C2 exon
TCAGAGCCCAAGGGAAATGGCAACATCAACAAGCGACTCCCATCCATTGTGGAAGATGAGGAAGAGGAGGAGGAGGGGGAGGAAGAGGAGGCAGTCTCCCTCTCTCCCATCTGCACAAGGGGATCTTCTTCGCGCAACAAGAAGGTTGGAAGCAATAAAGCCTACCTGGGCTTAAGCTTAAAGCAACTGGCCTCGGGAACGGTGCCCTTTCACTCGCCTATCAGAGTCTCCAGGTCAAATTCCCCCAAAACCAAGCAGGAAATTGACCCCCCCAACCATAATAAAAGGAAAGAGAAGAACTTGAAATTGCAACTTTCAACTTTGAATAATGCTGGACCCCCAGACCTCAGTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960-'13-14,'13-13,14-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.769 C2=0.815
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PD(53.4=65.3)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCCGAGAAGGTCATGAGA
R:
GAGACTGCCTCCTCTTCCTCC
Band lengths:
124-163
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains