HsaINT0145994 @ hg19
Intron Retention
Gene
ENSG00000169432 | SCN9A
Description
sodium channel, voltage-gated, type IX, alpha subunit [Source:HGNC Symbol;Acc:10597]
Coordinates
chr2:167144947-167149882:-
Coord C1 exon
chr2:167149741-167149882
Coord A exon
chr2:167145154-167149740
Coord C2 exon
chr2:167144947-167145153
Length
4587 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CAATTTCCATTTTTCCCTAGACG
3' ss Score
8.22
Exon sequences
Seq C1 exon
TCAGTGTCCAGAGGGGTACACCTGTGTGAAAATTGGCAGAAACCCTGATTATGGCTACACGAGCTTTGACACTTTCAGCTGGGCCTTCTTAGCCTTGTTTAGGCTAATGACCCAAGATTACTGGGAAAACCTTTACCAACAG
Seq A exon
GTGAGTACCAAGAGAAACATGCATTGTATTTTTGAATGGCATATGTACCTGGTGTATGTTAAGAGCCTGTATTAGGAGGTTTTTTATTTATTTGAGAATGGAGGAAACTCTATTATCTTATTACCAAAATTATAAGTGTTTTACTCCCATCACTAATAATATGGGTAGTTCTCGAATCATAAATAATTTTCTTATCTTTTCTGGGCATATTTAATCTCTAGATCTCTCGCCTTCCTGAGTATATCATCCCATGGGGTCCTAGTTAAGTACCAGGACATACTGTAATGTTTTCTCAAGCTGCTCCTGCACATGGACTGTTTTCCATGCGTGCTTGGGATGGCCTGAAGAGAAGAGGCTCTCTGATGTTCACCTGCTCACCATGTTTTATTTTTGAACTCCTATTTAAAGTTAAAGATGCAATTCATTTCTCTAAGTTTTTCTCTCCCAAATCAATTGCTCCCAACTGTAGACTTCCATGATTTTTTGTATTTTCTTCCATTTATATCATTGATCTCTTGTATTGCAAGTGGTAATTCATGTGGCTATTTCCTCTAACTTGAATGTGAACCTCTTGGGGCTGTGGTCTCCATTTACTTGTATAGTCTCAGCAGCCAAGCCAAAAGGAAGGAGACCAAAATGATTATTCTATAGTACACATAACAATGATTCACTTTTCTCAGAATAGCTGCAGATCTGTTTTTTTTTCTTTTTTGGCCTATTTTATATTTACTTTATTTCCGAGAATATTATAAATGAATTCGGAAATTATGTAAGATGCACTTTACAGCAAAAATGGGAATGCAAATATTTTTTAAATATGCAAGAAGTGGTCACCTTTACTCAAAATTAAAGAAACACAAATAAAAAAATTAAAATAATTTTTCATCAGAGGTAAGACTTATTTTTCATTTAATATCAGTTGATACTATCCTAAATTCACTTTAAAATGCTTTGTATGATAAAAGTATATTACATTATACAATTATTAATAGAAATGTTAATTATCTTATAAATTTGTTTAAGTTACTTGTAGATTCTTAATATTAGACCTTTGTCAGATGGGTAGATTGCCAAATTTTTCTCCCATTCTATAGTTTGCCTGTTCACTCTGATGTTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAGTTATATCCCATTTGTCAATTTTGGCTTTGGTTGCAATTGCTTTTGGTATTTTTGTCATGAAGTCTTTGCCCATGCCTATTTCCTGAATGGTGTTGCCTAGGTTTTCTTCTAGGGTTTTCATGGTTTGGGGTTTTACATTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGAGCCCAGTTTCAGTTTTCTGCATATGGCTAGCCAGCTTCCCCAGCACCATTTATTATATAGGGAATCCTTTCCACATTGCTTGTTTTTGTCAGGTTTGTCGAAGATCAGATGCTTGTAGAAGTGTGGTGTTATTTCTGAGGTCTCTATTCTATTCCATTGGCCTATATGTCTGTTTGGGTACCACTACCATGCTGTTTTGGTTACTGTAACCTCATAGTATAGTTTGAAGTCAGGTAGGCTGATGCCTCCAGCTTTGTTCTTTTTGCTTAGAATTGTCTTTGCTATATGTGCTCTTTCCTGGTTTCATATGAAATTTAAAGTAGTTTTCTAATTCTGTGAAGATGTCAATGGTAATTTGATGGGACTAGCATTGAATCTATAAATTACTTTCGGCAGTATGGCCATTTACATGACATTGATTCTTCCTATCCATGAGTATGGAATGTTTTTCCATTTGTTTGTGTCCTCTCTTGTTTCCTTGAGTAGTGGCTTGTAGTTCTTGAAGAGGTCTTTCATATCCTTTGTAAGCTGTATTCCTAGGTATTTTATTCTCTTTATAGCAATTGCAAATGGGAGTTTATTCATGATTTGGCTCTCTGCTTGTCTATTGTTGGTGTATAGGAATGCCTGTGATTTTTGCACATTGATTTTGTATCCTGATACCTTGCTGAAGTTGCTTATCAGTTTAAAGAGTTTTGGGGCTGAGATGATCGGGTTTTCTAAATATAGAATCATGTCATTTGCAGAGACAATTTGACTTCCGGTCTTCCTATTTGAATACCCTTTATTTCTTTCTCTTGTCTGATTGCCCTGGCCAGAAATTCCAACACTATATTGAATAGCAGTGGTGAGAGAGGGCATCCTTGTCTTGTGCCAGTTTTTAAAGGGAATGCTTCCAGCTTTTTCCCATTCAGTATGATATTGGCTATGGAGTTTTCATAAATAGCTCTTATTATTTTGAGATATGTTCCATCAATACCTAGTTTATTGATAGTTTTTAACATGAATGGATGTTGCATTTTATTGAAGACCTTCTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCATTGGTTCTGTTTATGTGATGGATTACATTTATTGATTTGCATATATTGAACCAGCCTTGCATCCCATCAAAAAGTGGGCAAAGGATATGAACAGAGACTTCTCAAAAGAAGACATTTATGCGGCCAAAAAACATGAAAAAAAGCTCAACATCAGTGATCATTAAGAAACGCAAATCAAAACCACAATGAGATACCATCTCAAGTCAGTCAGAATGGTGATTATTAAAAAGTTGAGAAACAATAGATTCTGGTGAGGCTATGAAGAAATAGTAGCACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACAATTTTGAAGACAGTGAGGCAATTCCTTAAGGACCTAGAACCAGAAATACCATTTGACCTAGCAATCCCATTACTGGGTATATACCGAAACGAATATAAATCATTCTACTACAAAGACACATGCACACATATGTTTATTGCAGTACTATTTACAATAGCAAAGAGATGGAATCAACTCAAATGCCCATCAATGTTAAATTGTATAAAGAAAATGTGGTACATATACACCATGGAATACTATGCAGCCATTAAAAAAGAATGAGATCATGTCCTTTACAGGGACATGGATGAAGCTGGAAGCCATCATCCTCAGCAAACTAATACAGGAAGAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGGAGTTGAACAATTTGAACACATGGACACAGGGAGGGGAACAACACACACCGGGGCCTGTTGGGGGGTGGGAGGCAAGGGGAGGGAGAACGTTAGGACAACTACCTAATGCATGCAGGTCTTAAAACCTAGATAATGGGTTGATAGGTGGAGCAAACCACCATAGCACATGTATACCTGTGTAACCAACCTGCATGTTCTTCACATGTATCCCATAACTTAAACATATGAAAAAAAGCTCATCATCACTGGCCATTAGAGAAATGCAATTCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGTGATAATTAAAAAGTCAGAAAATAACAGATGCTGGAGAAAATGTGGAGAAATAGGAATGCTTTTAAACTGTTGGTAGGAGTGTAAATTAGTTCAACCAGTGTGGAAGACAGTGACCCAGCAATCCCATTACTGGGTATATACCCAAAAGATTACATATCATTCTATGGTAAAGACACATGCACACATATGTTTATTGTGGCACTATTCACAATAGCAAAGACTGGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGAATAAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTAGAAACCATCATTCTCAGCAAACTAAAACAGGAACAGAAAACCAAACAACGCATGTTCTCACTCATGAGTGAGAGGTGGGCAATGAGAACACATGGGCAATGAGAAGATCATCACACACTGGGGCCTGTCGGTGGTGGGGGGCAAAGGGAGGAATAGCATTAGGAGACATACCTAATGTAGGTAACAGGTTGATGGGTGCAGCAAACCACCATGGCACGTGTCTACCCATGTAACAAACCTGCACGTTATGCCAAAAAAAAGAAAAAAAGAAAAAAAAATCTCTGTACCTTCAGTTTAATTTTCCTCTAATCCTAAAACTATTTTGAAAAAAAATTCTATTTTAAAAAGCAAAGAAAGCGAAAAAAAAAGTTAATTGAAAATACCTATGAGATGAATAAAGTAATTAAATAAGACCATCTGCCTAGTGTTAACATTCAATGATATTATTAATATTTGATGATAAAGAAAGAAAAGATAGAATTTTAACAGTAAAAGGGACTATGGATATCACCTGTTCCTAAAATTTGAAAGTGAGCAAAGGATTTAATTTTATGAGTAATTTTCAGACTGTAGGAAAAAATGCATGATTTTTATACTACTACACTTAATAATCAAGAATCTTACATGACTTTAGTACAAGCATATTACATTGCTATATTCTTCGTACTGAAAATGTGTTTAATATTTGTTTTCCATGAAGATATAACTTTTCTCTTTATATTTTTGATAACATGAGATTATACCAAACTGTCAGATTTGCTCATGCCTGTCAAATTGAAATAATTTACTAAAAAAACTTTTTATTGTTCAAATGACAATTTCCATTTTTCCCTAG
Seq C2 exon
ACGCTGCGTGCTGCTGGCAAAACCTACATGATCTTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTGGTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAATTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-SCN9A:NM_002977:9
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=0.014
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(19.0=100),PF0253517=Zip=PU(11.2=41.7)
A:
NA
C2:
PF0052026=Ion_trans=PD(12.5=44.9),PF0253517=Zip=FE(38.0=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
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)