HsaINT0145979 @ hg19
Intron Retention
Gene
ENSG00000169432 | SCN9A
Description
sodium channel, voltage-gated, type IX, alpha subunit [Source:HGNC Symbol;Acc:10597]
Coordinates
chr2:167094604-167099166:-
Coord C1 exon
chr2:167099012-167099166
Coord A exon
chr2:167094778-167099011
Coord C2 exon
chr2:167094604-167094777
Length
4234 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAAT
5' ss Score
6.06
3' ss Seq
CTTGAATATTATTTCCACAGGCT
3' ss Score
6.44
Exon sequences
Seq C1 exon
GTTGTGTATGGAGGTTCTCATGCTGCCAAGTTAACATAGAGTCAGGGAAAGGAAAAATCTGGTGGAACATCAGGAAAACCTGCTACAAGATTGTTGAACACAGTTGGTTTGAAAGCTTCATTGTCCTCATGATCCTGCTCAGCAGTGGTGCCCTG
Seq A exon
GTAAATGATCTGACACCTAAGTCAATATATTGATTAAGTCAATATTCTTTAAAATGAGCTAAAAGATAAAAATATCATGGCAAGTTGTTTTACCTAGAATTAATCCCTATGATTAGTGCCAATGACAAAATTTTACTTGAGCTCAGTAAATAGTTACTGAGCACTCCTACATGCCAGGCATTATCCTTGCTGCCCTGAATGCTGTTGTCCAAAGGACCACCCAGATGGCTATAATAGAAAAGAGAATTTTACTGGCAATATCAGTTTGCAAAACAGGGAGAGAGTCTGTGGCATAAACTGAAAGCACTTTCCCTGTAGAACAAAGAGAGAAGGTTAGAGGTTTTATTAAAATGGGAAAATGTTATATATTGCTCTTTGAGAAAGTTCATTGGCCCTAGTAAGGATCTGGGGAACTGGTAAGCTCCAACTGGCGAGCAACAGTCGTTGGCACAATTAGTCCTAGAGTGTAACAGGTTTCCTCAGAAGCTATAGATAAAACTAATTTCAAGTTACAACAAGCAGCTTCAACAGTCAGTCTTGCAGAGAATTATAATTCTTGGAGTAATGTTTTGTACCCTGAGAGCTTTTCCCCCTGCCTTCTTGACTCTTAGTTGACTGTTAGTTGAGTAGGACAAGAACTACCCAATTTGTATGATCAACTTTCACAATGCAAAGATAAATAAGATCCAGGTACTGTTTATTCTTAAGGAGCTCAGAGCAATGGAGAAGAGAAGAATACAAATGAGTAACTGTAGAGCTTGGATGTGTTTGTAAGCAAAGTGTAAATGTGACAAAGTTCTGTAGCAAGGAGAACAACTGCTTGCAATTTCAGAAACGTAAATGGTGCTTTTCAGGGTCTAGAAAGACGAACAGGAATTTTCTAGTTAGGCAAGGCAGGCTGAGGGGAACAAGTATACAATCGTAAGGAGGCATAAAACAGCATCAGATATTCAGGAAATTAAAAACTGCTGAACTGCAAGTGTGGTGGGAAGAAGAACAAGTACAGGTGGCCAGAGATACTATGAGAAAGCAAGGTCAGCTTGTGAAGCATCTTGTGTGTTATAAAAAGGGAAAACAGATGGTAGTTTTAGGATAAAAGTAGGACAAGTTTCTCATTCTTGTACACATACAAGCAGCTTCCATGAGAGTTGAAAGAGATCTAGTAGAATTACAAGCTACCTGAACCTTTTTCTTAATTGTCATTTTTCCTGCTGACGCTGACAGAGATGAGCCATTAGAAGCCATTAGGAGCCCAGATCTAGCTAGATATACCACTGGAAGTTTCATTATACTAAAAATAGAATACTCAAGAACTTTGTAACTTGCCTCATAGACAGTCTTCATGAGTTTGGACTTTGATTTTACTGTACTTATATGCTAATAGGTTGATCTGATACTGTTTCATGGATGCTGGCAGAAGATATGAGGTGCTTGGGTCAGAGATAAAGGACTTTGTTACTTATGTGTGGAAAGTAGCATGAGTTTCAACATGTTTCTGTTGGTTCCCCCTTTACCCAGGTCTCATGGGGGCATTATATGAGCCTGAATGAGTGTGTACACATATAGTGGATTGATGTCACAGCTGAGGAACACTGAGCTTAGGGAATGCATCCTTTTATACCAAGCAACATAAGCAACCCTGCTCTTTGTCCCAGAGACCCTACCTCATGTCTCAAGGTTGCTCACTGCAAACACAACCCTGAGGAATGTCCTAGGTAAGGAGCAGGCAGAGCCTGGCATTCTTGGCACACTCCCCAACAACCTGCAGGGACCCACTGTGGCTTTCCTTTCCTATCAAGTCTCAACTCTCAGAAACAGAAAATGTGATCAGAAAAGCTCTATTTTCCTTACCTGGAGTCATCCAAGTAGAAATCATGATAGTGTCTACCATGCAATGTATTCCTAGTAACTAAGGAGGTTTATCCCATGCTGACTCACATATGTGACTGAGAATTTCAGAGAGGAGATTACAAAAAAATTAAAGTTTGGAGTAATTCCTTGTTCAAAATGTCTAAAACAGAGGAAGACATTTGGGGAGGGCATTCTCAAAAGTGTATTTTAAATAAATCATATGAGGAAGAAAAGGGAAAGATATTTCAAGAAGCTGGTGTTTGTACTTAGACAGGTTGCCAATTAAACTAGATTTTTTAAAAGTATAGCAAACCCCCATGACACGTGTTTACCTATGTAACAAACCTTCACATGTACCCTCAAACCTAAAATAAAAGTTAAAAAGAAGTAATAGCTCTCATTTAGCTTATACTTATTGTGTTTCAGAATCTTCTTTTAGATTTTCTCATTTAATTTTCAAACAACCCTGTGAGATTATGATATTTTGCTTATTTTACCAATGATGAAGCTGGGTACAGTTTTAAAAGTTGCTTAATGTCCCAAAGCTAGTAAATGACAGAGCTATCACTGAATTGACATCTAAAATCAAAGTCACCATATCTTTTCACTGTGTTGTGGCTCCTCAGAAAGAAGAGTATACACAAAACAGAAATAAATGAGTGGTAACTGAATTTAGTAACAGTAAAGCGTTAAGTCCTAAATCAGATAGAGCTCACATAAGGTCATTCTTGCCTCCTTGCTCCTACATCCACAAAATTGGTTCTGGAAGCTAGAACCCCTGTGGGCTGAATTCTAATTCCTGCTCTGGGACCAGTCAGAGAGAGGTTCTCATCATCAAGACTTCCTGCGGCTCTGCTCTGACCCTGTACACCAGTTCTAGAAACAGGCTTCGTTTTCCTTGTGACTAAGCCCCTTCCTTGTCTTTGTATTTCAAGGACTGAGTCATTGCCATAGTTTCGGTTTAGATGGCTTGCCTGATTCCTCCAGAATTTGGGGGTGGAGTGGAGGGGAGGAAAATCCTGAGGGCTAGAAGCCTCCCTCTGCACTTCAATTCCATTGAATTTCAGAACCTCTGCCAACTGCTGGGACCTTCTTTTTGCATCTTAGTAGGTCCATTCAGTCTTTCTGCCCCAACTTGTCTCTTTTCTTCAATATTGATACCAACAGTTTCCCAAAACTGCTAAGGATAATTTTAGAGTATTGAAAGCAGAACGTAGAATAAGAAGAATCTGAATGGCACAAGTTCATGACTGTAGACAGGTAATAAATATAATATTAACCACGAAGGATACAGGTCTTTGACTTTCATTTTATCCAACAGGGTTAATAGTGTTTCGATCTGAAAGAGAAAGTTCTAACACTTTAGACCTGTTGAGATCAGCAATCATTTTCAGTGTCTCAATGAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACAATGAGCCCAATTTTTCAGTCCTTTCAAATTCTTTGTCAAGGGACATGTGGCTGAAGTCTAAAGTCAAAGTCACCCTGTCCTTTCACTGTGTTGTGGCTCCTCAGACAGAAGAGCATACACAAAATAGGAGTAAATGAGTGATAACCAAAATTAGTAACAGTAAAGCGTAAGCCCTACATTAGATAGAGCTCACCTAATGTTGTCACATAATGTTGTGTGTCACTTACTAAAATTTCTTGGAAAGCATAGGAAGCACCGCATTAATGGAGAGAATAGAACAGTGATTTTTAGAGCTGAAGCTTTGAAGGATAATATATGGATGAATAGTCAAAGGAAAAAGCACCCTCTGTGTTCTATAGGCCTATTAAGCTACTGCAGTCATTCATTTAGCAAATCTTTCCTTTCCTGCTGCTGTTATTAACATGGTACTAGGCACTGGGATGCACAAGCATTTGAGAGCTGAAAGACAGGCTCCACATCCTACTGGTGGGGAAAAAGGGGAGTGTAGGATGTGAAAAGTTTATAACAGTGGCTGGCCATGGGATCATGTCTTAAATTGCTAGGACTTATCCAATTTTAATGGAGAAAGAGGAGGAATCAGATGGAGGTGGAAATGATCAGGTGTCAGAGATCATGAGTCTTTTTGTGGATTATAAGTAATTTCATTCTTTTGCACTTTCTCTTGACCTCTGAAGACCAGCAGCAGCACTGGTGAGAAGGCTAGAACTAACTGTTATATGATAACTGTAAACCAGAAAAAATGTCAGCTGGCCCATGTCAATATTATGTTTCAGCAGTCTTAGCATTAGAATTGTATTTTTCCTGTTTTTTTTAAATGAATCATGAAGCTTAAGTTGTGCATGATTGAAACTTGAATATTATTTCCACAG
Seq C2 exon
GCTTTTGAAGATATTTATATTGAAAGGAAAAAGACCATTAAGATTATCCTGGAGTATGCAGACAAGATCTTCACTTACATCTTCATTCTGGAAATGCTTCTAAAATGGATAGCATATGGTTATAAAACATATTTCACCAATGCCTGGTGTTGGCTGGATTTCCTAATTGTTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-SCN9A:NM_002977:19
Average complexity
IR-S
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:
PF065128=Na_trans_assoc=PD(19.9=84.6)
A:
NA
C2:
PF0052026=Ion_trans=PU(17.0=67.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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)