Special

HsaEX0032971 @ hg19

Exon Skipping

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Coordinates
chr1:211192125-211276944:-
Coord C1 exon
chr1:211276838-211276944
Coord A exon
chr1:211263904-211264032
Coord C2 exon
chr1:211192125-211192598
Length
129 bp
Sequences
Splice sites
3' ss Seq
CCTTTTGATATTCCTTTCAGGGA
3' ss Score
9.7
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA
Seq A exon
GGACACCTGTGTGGTTCTTTGTGAAAATTGCTCCAATTCGAAACGAACAGGATAAAGTGGTTTTATTTCTTTGCACTTTCAGTGACATAACAGCTTTCAAACAGCCAATTGAGGATGATTCATGTAAAG
Seq C2 exon
GTCCTACAGCTGGGCTCAGACATCCTTCCCCAGTACAAGCAAGAGGCACCAAAGACTCCCCCTCACATCATCTTACATTATTGTGTTTTTAAGACCACGTGGGATTGGATCATCTTGATCTTGACCTTCTATACAGCCATCTTGGTCCCTTATAATGTCTCCTTCAAAACCAGGCAGAATAATGTGGCCTGGCTGGTTGTTGATAGCATCGTGGATGTTATCTTTTTGGTGGACATTGTGCTCAATTTTCATACCACCTTTGTTGGACCAGCAGGGGAGGTGATTTCTGACCCCAAACTTATCCGCATGAACTACCTGAAGACGTGGTTTGTGATTGACCTTCTGTCCTGTTTGCCATATGATGTCATCAACGCTTTTGAGAACGTGGATGAGGTTAGTGCCTTTATGGGTGATCCAGGGAAGATTGGTTTTGCTGATCAGATTCCACCACCACTGGAGGGGAGAGAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143473_MULTIEX1-1/4=C1-3
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF134261=PAS_9=FE(34.0=100)
A:
PF134261=PAS_9=PD(29.2=70.5)
C2:
PF084125=Ion_trans_N=WD(100=37.3),PF0052026=Ion_trans=PU(37.2=58.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCGGCAAACATTTGAGAACT
R:
AGCCAGGCCACATTATTCTGC
Band lengths:
258-387
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