HsaINT0145944 @ hg19

Intron Retention

Gene

ENSG00000196876 | SCN8A

Description

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

Coordinates

chr12:52099201-52100499:+

Coord C1 exon

chr12:52099201-52099407

Coord A exon

chr12:52099408-52100205

Coord C2 exon

chr12:52100206-52100499

Length

798 bp

Sequences

Splice sites

5' ss Seq

CAGGTTGGT

5' ss Score

8.08

3' ss Seq

TGCTGTGGCTTCTTTCCTAGGCT

3' ss Score

8.65

Exon sequences

Seq C1 exon

ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG

Seq A exon

GTTGGTGATGAATTCTTTGCAATAGACCTTCCTGCCAGATCATGGTGACTAAGACCCCATCTGATTTTCACTGCAGTTGATCTTTTCTAGGCATATTTTCAAATAGAGGCCATTGGTCTGATGAAAATAACCCAAGTAACAACTGCAGATGGTTGCTCCAATTATTCCATTTGTCTTAACAGCCAAATTGTTTGTTCATATCATCTTTTGTTGAATTGCTCAACTGTTCAGTGTGCAACCGCCATGATGACTGGGAAGAAAAAAGTGACCAGGGCAGTTTATATAGTGTTTCACATAAGCATATTCTTTTTCTTGGGAGAAATGTTAAGATTCCTGTGGTCATAAAAAGTATTATTTCTAATTAAAAAGAAGATACAGGCAAAATATTAAAGTAAAACTTGAAAGACATTTGTGATCTCATCACCTTAACACTTAACTTTCTCATCCTTATCTAAATGTACATGTATTTATACATTTTTAGGACCCATAATATATAATGTTACTTAGCATTCATTTCCAGACTTGCTCAGAAGGGATCCTCTGGTACCAAGGCAGCAGTCAAGTTCTTGTCTGAAATGCTCAAGAGAATAACTCCCAAAGTTCTCACCACTGGGTTCTGCTCTGTTCACTTAGGGCTGTGTGCCAGAATACACAGAAACCCTCTAACAGTCTAGGTTTCCTGCCTCCTTTTTTCCTCCTTTCCCTTCAGTAGGGAAATGTTCTGTACTAACTGGTTGGCTTTGGGTGGCTCCAGTTAATTGCCCTGGTCTGGCTTCCCTGCTGTGGCTTCTTTCCTAG

Seq C2 exon

GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG

VastDB Features

Vast-tools module Information

Secondary ID

ENSG00000196876-SCN8A:NM_014191:10

Average complexity

IR-S

Mappability confidence:

NA

Protein Impact

ORF disruption upon sequence inclusion

No structure available

Features

Disorder rate (Iupred):

C1=0.116 A=NA C2=0.898

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:

NA

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:

NA

Main Skipping Isoform:

ENSP00000346534