HsaEX6066589 @ hg19

Exon Skipping

Gene

ENSG00000196876 | SCN8A

Description

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

Coordinates

chr12:52096557-52100499:+

Coord C1 exon

chr12:52096557-52096698

Coord A exon

chr12:52099201-52099407

Coord C2 exon

chr12:52100206-52100499

Length

207 bp

Sequences

Splice sites

3' ss Seq

AATGGCCTTTGTCTTTGCAGACT

3' ss Score

10.93

5' ss Seq

CAGGTTGGT

5' ss Score

8.08

Exon sequences

Seq C1 exon

GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTG

Seq A exon

ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG

Seq C2 exon

GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000196876-'13-15,'13-14,14-15=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=0.116 C2=0.898

Domain overlap (PFAM):

C1:

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)

A:

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)

C2:

PF057587=Ycf1=FE(33.1=100),PF153451=TMEM51=PD(55.2=91.8),PF0293211=Neur_chan_memb=FE(59.1=100),PF0310514=SPX=FE(46.9=100),PF119333=DUF3451=PU(33.5=68.4)

Main Inclusion Isoform:

ENSP00000346534