HsaEX6066588 @ hg19

Exon Skipping

Gene

ENSG00000196876 | SCN8A

Description

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

Coordinates

chr12:52099201-52115692:+

Coord C1 exon

chr12:52099201-52099407

Coord A exon

chr12:52100206-52100499

Coord C2 exon

chr12:52115330-52115692

Length

294 bp

Sequences

Splice sites

3' ss Seq

TGCTGTGGCTTCTTTCCTAGGCT

3' ss Score

8.65

5' ss Seq

CAGGTAAAC

5' ss Score

7.82

Exon sequences

Seq C1 exon

ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG

Seq A exon

GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG

Seq C2 exon

TCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000196876-'14-16,'14-15,15-16=AN

Average complexity

A_S

Mappability confidence:

100%=100=100%

Protein Impact

Alternative protein isoforms (Ref)

No structure available

Features

Disorder rate (Iupred):

C1=0.116 A=0.898 C2=0.405

Domain overlap (PFAM):

C1:

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)

A:

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)

C2:

PF057587=Ycf1=PD(1.0=2.3),PF0293211=Neur_chan_memb=PD(0.6=0.8),PF0310514=SPX=PD(32.4=50.8),PF119333=DUF3451=FE(65.5=100)

Main Inclusion Isoform:

ENSP00000346534