Special

HsaEX0032993 @ hg38

Exon Skipping

Gene
Description
potassium voltage-gated channel subfamily H member 8 [Source:HGNC Symbol;Acc:HGNC:18864]
Coordinates
chr3:19450106-19456982:+
Coord C1 exon
chr3:19450106-19450305
Coord A exon
chr3:19451155-19451404
Coord C2 exon
chr3:19456768-19456982
Length
250 bp
Sequences
Splice sites
3' ss Seq
TCCTTCATCTTCTCTGACAGCTT
3' ss Score
9.61
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
CCTTGATGCACGCCTTGGTGTTTGGAAACGTGACAGCAATCATACAGAGGATGTACTCCAGATGGTCCCTCTATCACACTAGAACTAAGGATCTGAAAGATTTCATCCGTGTCCATCACTTGCCCCAACAACTCAAGCAGAGGATGCTCGAATATTTTCAAACAACCTGGTCAGTCAACAATGGAATAGATTCAAATGAG
Seq A exon
CTTTTGAAAGACTTTCCAGATGAACTGCGTTCTGACATCACTATGCACTTGAACAAGGAGATCTTACAGTTGTCCCTTTTTGAATGTGCCAGCCGGGGCTGCCTCAGGTCTCTGTCTCTACACATCAAAACCTCTTTCTGTGCTCCGGGGGAGTATCTGCTGCGTCAAGGGGATGCTTTGCAGGCCATCTACTTTGTATGCTCGGGCTCCATGGAAGTTCTTAAAGACAGCATGGTGCTGGCTATTCTTG
Seq C2 exon
GGAAAGGGGATTTAATTGGAGCAAATCTATCAATTAAGGACCAAGTGATCAAGACCAATGCAGATGTAAAGGCTTTAACCTACTGTGATCTCCAGTGTATCATCCTCAAAGGACTCTTTGAAGTGCTAGACCTTTACCCAGAATATGCTCACAAATTCGTGGAAGACATTCAGCATGACCTCACATACAACCTCCGAGAAGGTCATGAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0052026=Ion_trans=PD(4.7=14.9)
A:
PF0002724=cNMP_binding=PU(45.5=47.6)
C2:
PF0002724=cNMP_binding=PD(53.4=65.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATCACTTGCCCCAACAAC
R:
TCTCATGACCTTCTCGGAGGT
Band lengths:
299-549
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