HsaINT0145950 @ hg19
Intron Retention
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52159455-52163119:+
Coord C1 exon
chr12:52159455-52159811
Coord A exon
chr12:52159812-52162648
Coord C2 exon
chr12:52162649-52163119
Length
2837 bp
Sequences
Splice sites
5' ss Seq
GTGGTTAGT
5' ss Score
4.94
3' ss Seq
TTCCAATGCTACTGGCATAGGTG
3' ss Score
4.12
Exon sequences
Seq C1 exon
CTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACCCTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGCTACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCATGACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACCATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTCATGGTGATTGGCAACTTGGTG
Seq A exon
GTTAGTACTAATTTGTAGATATTTTTGTTCTACACCCTGAATATTCTACCCCTGGCCCAGAAGCCCAAGTCCTTCTACTGCTTAGTCCTTCTACTACCCGTCATGTTTGTTGATTTTTATTCTTTCTTGGCCCAGAAACCCTAAGGTACAAATGAAGGAGAGGAGAGAGATACTTACAGAGTGCCTACTTAGTCATGACCCCCACAACTTGTCAACCCTTTTCCTAGAGTTAGGAAAGCAAACTCAGCAAAATTAAGTGACTTTCCCAAATAAATATAGGGCTTGTATTTGAACCTAGACTTTAAAGTCTGTGCCCGTTCGCCTACAGAAGCCTTCCTTTTTCTTAACGACAATTTCTCATCTGTGGTGCTATTGACATCTTGGGCTGGATAATTCTTTGTTGTGGGCTGTCGTGTGCATTGTAGGGTTTAGCAGCGTCCCTCCTGGCCTCTACCCACTAGATGCCAGTAGCATCCTGAGAGCTGTGACAACCAAAAATGTCTGCAGACATTGCCAGATGTCCCTGGGGGGCAAAATTGCCCTCCATTGAGAGCCACTGCTCTAAACCATCTTAGAGTTTTATTTAATTTATATAAATGACAAATCACTTTATTGCTTTACTTTGATCTGTCCACCTGCTCTCTTCTACCTCTGTCTTTAGAAGAGTCACCAACAGATCTTAACACCTTGCTTCTTAAAGTGTGATCTGAGGACTAGCAGCAACAAGATCACTGGAGAGTGTGTTAGAAATGCAGAATTCTAGGCCCCAAATCAGAACTACTGAATCAGAATCTGCATTTTTAACAAGATCCTTGTGTGACTCAAAAGTACACTAAAGTTTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTTCTCACTACTTCAGTGACTATAACAATGGCTTCCCGGTATGTAGCATGATCAACATTTTCAAGCCCTGACTTTGCCACCCTTTCTTCACTCTCCTGTTCTTATTTGTCTCAAAGACATCTCCCCATGGCTGTCTCCAGATACCTGAGCACTTGATAAATATCAGCTGTTACCACTACCCCCTGATGACACTTTTCAGGTTCCCCTTTGCTCAGTAGTCCTTCTGCCCATCTAGTTTCTAGGAACCTATAACTTTGGAGTATTTTCTGTCTCTTTTCTCTCCACTCCCAGCAAATATCTGATGTGTCTTAAATGCATCTTTCTTCATAGTATTTCTGTGGATATCTTTCTTCATAGTATCTAAGATCTGCCCCTTCCTTTGCATTTCTATAATTCATTCAGTACTTTATAAAAATGTGGTCTCAAGACCACCTGCATCATAATTACACAAGTTTCACTCACAAAAAAAGGCCAAGTCCCAGGCTGTATACCAAATCTACTGAATCCAAATATCTTTAGAGTAGGCTAAGGAAATATTTTTAACAAACATCCACACCCCTCACTCCCTGAGATTCTAATGCATGCTAAGATTTGGGATTTCTGTAGCCTAATCCAGACCCTTATCAATTCATGCATGTAACAGCCTCCTAACTTCTGCCCTTCCCCTCTGTATGTAGTTAGTCTGAATGACTCTTTCAAATCTCTGTCATCATCTGTGACTCCTTTACTCAAGAACCAGTAGTGGATCTAATTAAATAAAATTCAGATCCCTCAGCCTGGCCTTCAAAGCCCTCTCCAACTCACCCGCATTTTACCAACCATATTCCTTTTTAACTCTACAAATGGTGCAGATAATCCGAACACTTATAGTTCATTTATTGTTTCCACCCTCCCACTCTGCACATGACTGTTATCTCCTCCTAAAATGTATGCCTTACTCTTCTTCCCAAGTATGACAAAGTAAGGACCAAGTGTAAATCAAGAAGTGAGCACCTCTCCCACTCCTAAAAAGTAAGTCTTAATAAAAATAAATTAATTAACCTTAATGTTCAATGTAGTAAAATAGGAGATTAAAACAAAAATAAATAAAGCTTGTATCTGATGGCTTGACATTTGGCTATGCAAAAAAATATAAAAGTCACCATCACTGTCTTGCTAAAGCGATTTTATTTTTATAAATGTTAGGAAAACAAAATTTGTTCTTAAAATATGATGACATGAAGTGTATTTCAGTTCTACCTTCTTGGTTTTTTGTATGAAAGGATGGCACTTCAAGCCTCATTTTTTTTTCTGACGTGGGTCCTCTCAAACTCTGCTCATGAATATGTGGCATCTGTACACTTTGTGACCCTCCCCAGTAATGTATATTCACCTTTTTATTTTGGGGAAATGTCCTTCCAAAATGGATACAGCCTTTGTTTTTTCTGATTATAAGAGAAGTAATATATTTTCGGGTACATATATATGTATGTAAAACTATAAAAGACCCAAGAAAAGAGGTGCTAAACTCCTTGTATTACAACCAAAACCAAACACATTCCCACCTGGTAACATGAGCATTAAAATACTACGTGGGCCAAACACAACACAACAGAGCCTCTTTGAGTCTGTCACGTGAAGTCCATTGGCTTCCAGTTTGCAACCCTGAGTTCGATGGATAACTTTTCTGCATTTGTTCCTTTTTTCCAATGCTACTGGCATAG
Seq C2 exon
GTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTCAGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCAGTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAGGCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAGAAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAGAAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGATGAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTGGGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAAGGCAGCAAAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-SCN8A:NM_014191:16
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.223
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(65.9=97.6)
A:
NA
C2:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(61.0=84.7)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)