HsaEX6066587 @ hg19

Exon Skipping

Gene

ENSG00000196876 | SCN8A

Description

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

Coordinates

chr12:52100206-52139819:+

Coord C1 exon

chr12:52100206-52100499

Coord A exon

chr12:52115330-52115692

Coord C2 exon

chr12:52139687-52139819

Length

363 bp

Sequences

Splice sites

3' ss Seq

TTCCCTGTCTGCCCCTGCAGTCA

3' ss Score

9.9

5' ss Seq

GAGGTGAAA

5' ss Score

2.91

Exon sequences

Seq C1 exon

GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG

Seq A exon

TCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAG

Seq C2 exon

GCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000196876-'15-17,'15-16,16-17=AN

Average complexity

A_S

Mappability confidence:

100%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.898 A=0.405 C2=0.022

Domain overlap (PFAM):

C1:

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)

A:

PF0310514=SPX=PD(28.9=46.3),PF119333=DUF3451=FE(52.4=100)

C2:

PF119333=DUF3451=PD(17.0=86.7)

Main Inclusion Isoform:

ENSP00000346534