HsaINT0145949 @ hg38
Intron Retention
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51762503-51766027:+
Coord C1 exon
chr12:51762503-51762676
Coord A exon
chr12:51762677-51765670
Coord C2 exon
chr12:51765671-51766027
Length
2994 bp
Sequences
Splice sites
5' ss Seq
TTGGTATTC
5' ss Score
0.59
3' ss Seq
TGGGTTTTTTTTTTCCTTAGCTC
3' ss Score
8.07
Exon sequences
Seq C1 exon
GTTTTCACTGGAATTTTCACAGCGGAAATGTTCCTGAAGCTCATAGCCATGGATCCCTACTATTATTTCCAAGAAGGTTGGAACATTTTTGACGGATTTATTGTCTCCCTCAGTTTAATGGAACTGAGTCTAGCAGACGTGGAGGGGCTTTCAGTGCTGCGATCTTTCCGATTG
Seq A exon
GTATTCCATATTTCTCCAATTTCTTTTAACATTTCCTATCTTGCAGCTACTAGAAAGAGTTCTGCATAAATTAATTTGATGATTTAAAAAATATATTAGCTGTATTTTACTCCCAATTCCAGTTATTTGGCTTAGCTACTAAAATACTAAAAACTTTCCTAAAATACCTGATATGGAAGTTAGTTGTTAAAAATCAATAAGCAAACAGAAATCAATTTTAAGAAGCTCTTTAGAAAATGCTGCTTAATCTAAGAGATGTCTAAGATGATAAGTGAAAAATAAGACCCAAGACAATAGATGAAGAAAATGAACTCCCCCAAGGCCCAGTGTGAGGTCTAATTTGGGTTTGCTAGTGAATCTATTTTTTTAAATCTGAACATCTCCTTGAAATGGCAAGAATTTCTCCTTGTTCAAAGATGACTTTCTTCATTTCTTCTGTCATGGTAGCCCTTCCAAAAAATGAGAATAAAATAAGGTTTTTAAATACAGATGGTTCCCAACTTATGATGGCTCAACTTATAATTTTTCCGCTTTACATTCTGCAAAAAAGCAGTGCACGTTCAGTAGAAACCATACTTTGAGTACCCATACAACCGTCCTGTTTTTCACTTTCAGTATAGTATTCAATAAATTACATGAGATATTCAATACTTTATTATAAAATGGGCTTTGTGTTAGATGATTTTGGCCAACTGTAGGCGAATGTAAGTGTTCAGAACATGTTTAAGGTAGGCTAGGCTAAGATGTGATGTTCAGTAGGTTACGTATATTAAATGCATTTTTACTTACAGCAGTTTCAACTTAAAATGGGTTTATTGGGACATAACCCCATCATAAGTCAAGGAGCATCTGTATTATATTGAAATTAGTTGTTGAACATTGGCTTTATTTTCTCTATCATTAGCTAAAAAGGAGTTTGTATTAATGTATTTGAAGAAGTTAGTGTTTAAGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAACAGAGATTTCACTCAGTCAAAGTCACAAATAACTGCCAAATTTTTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAAGCCACTCTGTTGAAAACAATATGAGTGGCCCAGATGTCTGCATATAGGGTAACACCTGGTAAATATTGAACTCTCTGATAAGATAACTTTTCAATTAAAAAAAAGTTAAAATTGTGCTGTTGCCTTCTACCAAAATTCCTATTACATTCTATGTTAGTTATTTGTTAGCATATGACATCTAATGATGATCTCATAATTATAATTTTATTGGCCACACTGCCATAGCCTTTATGCGTTATAATTCTCAGGCTGGGCCAGGCACAGTGGCTTACACCTGTAATCCCAGCACTTCAGGAGGCCAAGGCGGGCGCATCACTTGAGGTCAGGAATTTGAGACCAGCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCACGTTGCTGCACACCAGCCTGGGCGGCAGAGTGAGACTCTGTCTCAAAAATAAATAAATAAATAAATAAAAAATAATTAACACTCTGTTAGCCAAGATCTTGTGATTATTTATTACAGAATATAGATATTTCATGATTGACAGGTACTAAAAGTTCTGTCCTCTGAATAACAGTATAGGCTCTTTTCTTTTTTTTTTTTTTCTTAGACATAGTCTCATTCTGCTGTCCAGGTTGAAGTGCAGTGGTGTGATCTCGGCTCACCTCAACCTCCACCTCCCAGATTCAAGTGATTGTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCTGCACCACCACACTTGGCTAATTTTTGTATTTTTTATTAGAGACGGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTCATCTGCCTACCTCAGCCTCCCAAATGCTAGGATTACAGGCATGAGCCACTGCACCTGGCCAGTATAGGCTCTTTTCATAAGATGACTGATGTATGTGGAACTGCCCCTGTTTGAGAGTTGTGCTTTTCCTCCAAGTTATTCCAAGCATATCACAACGGTTTTTTTTTTAATCAGCCATTGATTATTTATTGGCAAGCAAAATAGGTATTTAGAATTTTTTAATGTTTGCTTTTTTAAGGAGATGGATTTTTTTTTAAACTGTCCTTCCCATACTAGTCTTTTGGTTTCCTACAAATCACATTTTATTTCACTTGTCCTGTGAGAAGTCAAGGGAAAATTAGTAGGAAAGGGATATGTTCATATGTGGGTTTTCAAAAAGCAGACTGACTCAGATCTAAAGTAAGGGACTAAGGCAGTATTCCTGGCTTCTAGTTACAATTTTTTCAGCTACTCTGAAATTAATCAGTTTTCCCTTATTTATGTCTCAGTTTCTCCCCATTTAGTCTGAGACACTGTTAGACAGTCCTGGGAATTTTCCAAGGGTGCTCAATATATTTAATCTGATCTTCCTAATTTTATGTTTTTATTTTAGCCATGTGGTGAGAAAATTGATTGAGTATCATTTATTTTTTTGTTTGGGTTTTTTTTTTCCTTAG
Seq C2 exon
CTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACCCTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGCTACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCATGACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACCATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTCATGGTGATTGGCAACTTGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876:ENST00000354534:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(30.0=100)
A:
NA
C2:
PF0052026=Ion_trans=FE(62.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
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