Special

HsaEX6022736 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 4 [Source:HGNC Symbol;Acc:6253]
Coordinates
chr17:40328072-40330495:-
Coord C1 exon
chr17:40330349-40330495
Coord A exon
chr17:40330118-40330245
Coord C2 exon
chr17:40328072-40328315
Length
128 bp
Sequences
Splice sites
3' ss Seq
TGCACCTTTCTTCCCAACAGAAA
3' ss Score
10.76
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GCTCAGCCTTTTGGTGCCTCCTGGACATGATGCCCATCAAGAATGAGATGGGGGAGGTCGTGCTGTTCCTCTTTTCCTTCAAGGATATCACTCAGAGTGGAAGCCCAGGACTTGGCCCCCAAGGAGGCCGCGGGGACAGTAATCACG
Seq A exon
AAAACTCCCTTGGTAGAAGGGGAGCCACCTGGAAATTTCGGTCTGCCAGAAGACGGAGCCGTACTGTCCTACACCGACTGACCGGCCACTTTGGCCGCCGGGGCCAGGGAGGCATGAAGGCCAATAAT
Seq C2 exon
AACGTGTTTGAGCCAAAGCCATCAGTGCCCGAGTACAAGGTGGCCTCCGTGGGGGGGTCTCGCTGCCTCCTCCTCCACTACAGCGTCTCCAAGGCCATCTGGGACGGCCTTATCCTCCTTGCCACCTTCTACGTTGCGGTCACCGTCCCCTACAATGTCTGTTTCTCGGGTGACGATGACACCCCCATCACTTCGCGACACACCCTTGTCAGCGACATCGCCGTGGAAATGCTCTTCATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558-'2-3,'2-2,3-3=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.300 A=0.093 C2=0.012
Domain overlap (PFAM):

C1:
PF134261=PAS_9=PD(28.4=62.0)
A:
NO
C2:
PF0052026=Ion_trans=PU(5.7=14.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTGGTGCCTCCTGGACATG
R:
GAGGATAAGGCCGTCCCAGAT
Band lengths:
256-384
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains