HsaEX0056577 @ hg19

Exon Skipping

Gene

ENSG00000196876 | SCN8A

Description

sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]

Coordinates

chr12:52094928-52099407:+

Coord C1 exon

chr12:52094928-52094991

Coord A exon

chr12:52096557-52096698

Coord C2 exon

chr12:52099201-52099407

Length

142 bp

Sequences

Splice sites

3' ss Seq

ACTTCCCTTTCTTTCTTTAGGCA

3' ss Score

11.6

5' ss Seq

TTGGTGAGT

5' ss Score

9.27

Exon sequences

Seq C1 exon

CAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGG

Seq A exon

GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTG

Seq C2 exon

ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000196876_MULTIEX1-8/8=7-C2

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=0.116

Domain overlap (PFAM):

C1:

PF0052026=Ion_trans=FE(10.1=100),PF146251=Lustrin_cystein=PU(47.2=77.3),PF057587=Ycf1=FE(7.2=100)

A:

PF0052026=Ion_trans=FE(22.6=100),PF146251=Lustrin_cystein=PD(50.0=37.5),PF057587=Ycf1=FE(16.0=100),PF153451=TMEM51=PU(1.2=4.2)

C2:

PF0052026=Ion_trans=PD(14.9=44.9),PF057587=Ycf1=FE(23.2=100),PF153451=TMEM51=FE(41.7=100),PF0293211=Neur_chan_memb=PU(38.4=91.3),PF0310514=SPX=PU(19.3=58.0)

Main Inclusion Isoform:

ENSP00000346534