HsaINT0145800 @ hg19
Intron Retention
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166179666-166183494:+
Coord C1 exon
chr2:166179666-166180010
Coord A exon
chr2:166180011-166183361
Coord C2 exon
chr2:166183362-166183494
Length
3351 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
ATCTGAAATTCTACTTCTAGGGC
3' ss Score
7.82
Exon sequences
Seq C1 exon
TCCTTACTGAGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTCAGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACCTTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGGCGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATGAATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCTTCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG
Seq A exon
GTGAGGCCAATTAAAATTGCAGCTGATGTGAAGAGAGTTGTGACTGGTGCAGGCAGGAGTGTTTTTCCATTTCCACATCTAAGAATTTGTTGAGTTTGTTGCCCAAAGGCTGGGAGTTTGTTCAATCAAGCTGTTAACTGTCTTGTGAAACTGTTCTATTCAGACTTTTCTACAAAGTAATTAAAAACCTAGGTTGGCTGTCAGAGAATATAATTAGAAGTAATCTTTCATCATTATTACTATGGTATGAAACTCGCCAAAAAGCAAAGCAACAATTTATCAAGCATAATGTTTGATTAATATAGTTAAATTAAATCCAAGGAAATTAATGCTCACTAATTAAATAAATACTTAAGGATTTTGTGATTGTTGTTCATTTAAAAGGAGATTTGAATACTTCCACTTGCAGTAGATACTATTACTAAATAGATTTAAATCCCATAGTACAACATTGCCTCTCTTTGCAGGTCAGAGTGTTGTAACCTTTTTAGCATCCACTCTAATGATCTCAACCATTGTAAATTTATACATGAAGAGCCATTCAAAAAGTACCTGGTTTGGAATCATGGGCTGTCATTTTTAGAGCAGATTCCAATTTTTATATTACTGTCATAAACTCTTATTGTAAACAAAGTGGCCCAAAACCAATCACATGGAAAAGGATTTCAGCTACATACTAGACACTTACAGGGCTATATTATTGAAATTTACTTCATAAACCATAAGAAGCTTTTAATGTTGGTATTAAATAAAATTCCATTAGCTATCAAGACATATTTTGGCAATGTCACTTGATTGTATTTTATAGCATTCAAAATGTCTTCTTATGATTTTTTTTTCACATAGCTCCATTTATTATCATTGAACAAGCTCTTTGAGCCACATTAAAATGATACGGAGTTCGTTTTCAGTTACCTAATGGAGGAGCTTCTTATCTTGGATTATAAAATAGCCATTATCTTCTTCACATTTTTTGCATGGCCTCTCCCCACCTCCTTCTACCAGAGAAGTGTCCAGGTATCCTGCAGTCAGGTTGAACCATGAGAAAAGTAGAACTTTATAGTGGAGGAACCAGGAAGAATGAAGAGAGGACATCAGCTCTTCTTAAAAAATGATCATAGATAACCATGTACCAGACACTGTCCAGAACACTGTACATGTGTTAAGAATCATTTAAGCATCATAACAACCCTTTTTGATAGTTAGTAACATTATCCCAATTTTACAGAGGAGGAAACTGAGGCTTGTGCGTGGTGGAGCTAAGATTTGACCCCAGGTATGCTGGTTACTGAACCTACATTCTATCAACAGTGAAATATTGCCTCCCACTGAGTTATTTTTAATTTCTTTAAATCAAAAAGAAGAGATGGTTAAGGAAATAAACACATAAACACTTTCATTTTAACCAATGTTTCTCAAAATATACTTCACTTTCATACTACTTACATCAGAATCTCATGGGAGGCTTCTTAAAACTAGAGATTCCTGTGCCTACCCAGACCTTTTCAGACCAAACCACTGAGGAGAACAAGGTCTGGGAATCTTCTTCCTTAACAAGCATCCCACATAATTCTTATACATAATAAAGTATGTTTATCACTGATCTTGATAAATGTTAATTGGGTAAACAAAAGCAAATCTACAATTACCATGCAGGAATACAGACAGACTGTCAGTCTGTCAGAAATTATTTAGCATTTATCAATAATTATCATAAATCTCCTGTCCTATCAGAGATGATGGGACAAATCGCTGAAGGCAAAGTTGGGGCCAGCTTGAAGCAAAGCTTTGTGTGGTCCCTTTATTTCCTGCTTCCTCAACTTCATTCTTTAATCTTACAATCTTAAGTGCTTTGAGGCAGGGCACTGTACTATTGCAAAGTTGAGCTGAAGGTGCAAACAAATGAAGTAGGCTTTTGGAGAATGCAGAGGTGAAATGACAATAGAAAATAAATAGCTATGGGCAAATGACACCCTTGAAAGCACATCATTTCCTGTACTTTACACATAAATTCAATCGAGTAATGTCATTAGCAGTTTTGGAATCTATTTGAAAATTAGACAAATCTAGGTTTGTACATGTGCTTCTGTGTAGAACAGAAGGGACTAGATGATCTTCATGTGACTATTTTTTTTTTCCTTAAAACTTTGCCTCTTTCTGACAAGCTGAAATATTTTAAATTCTAAGAGGCACCCTTTGGATTAAAAGACTTTTATTTTTAGAGATAGGTTATTTCTTTTCTTACTAATTTTACTTGTTTTTTTACCTTAAAATTAATTTTAGAATGACCTATATGAATAGTTATCACCATTAGTGACAATCATATGCAATGAGTGGAAATTTTGGTTTTGAATATGTATGCATTAAAATAATTCAACTTACAAAAGATAAAATACTGCTAATTGTTCACATCATAATAGGATGTGACCAAAATAAATAATATTTTGATCATATTATTATATTTTGATCATATTGTTCTTTTAGAAATAGGGAAAGTCCTCAAAGGAATGAAACTTTTTAATTTATTATTAACACTCAGACCTGCATTTGAAATTCTTTAGCTTTACCTTTTTTTTTCCTGTGATAATTGACATCATTGTTTGATCTCCTGAAGTAGGAATAAATTTCCACCCATGTTGAAATCCTGATGAGTTTATTCTGGAGTAGGAGATTATCAGATCATTGTATCATTACTAAAAATCACAGTCCCCCACATTGGTATTATCTCCTTAAATTATAGTCTCAGTGCCAAGGGTGGATTGTTTTGTGGATTAAGTTGTTTTTCAAATATAGGACAAAGTTATAGACTAGTTCTAAAATTTAGTTTTGTAATTAGGAATGTTGGGAAATATTACCTGTGTCTAATGAATGAAGGCATTTTGCAACTGGAATTCACATTTTAGGGGAACTGTTACTGATGCATATGAAGGAGACTTTCAAACCTTTTTGTTCATATATTAAACTACCTGAATATATGTCTATAAAGATCTAAAAACTCAACCTGGGTGAAAATTAAGAAACAATATGTTTTGGTCTGAAGTCCTAAGTGGGATTGGCTGAAATGCTAAAAGGTTATCTGTCCAGTAGTGGACCTGGTCCCTCCAGCCCAAATCCCTGGGATAGAGGCATAGGAAAGCCCACCTTGACAAACCCAGGGCTCCCCAAAAGCTGAAAATCTGACAGACTTTTAAACAACCCCCAAAGAATTATCATTCCAACAATATCTTAGTGAGCTTTTTACATCTGAGAAAGCATGGTGTATATTTAGTTAAATAACACCTGTTGTAGGAATGCTTTGGGCTTTGCTGCTTTCAAAAATAGTGGTTATTTCATCTGAAATTCTACTTCTAG
Seq C2 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-SCN2A:NM_001040142:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.543 A=NA C2=0.333
Domain overlap (PFAM):
C1:
PF0293211=Neur_chan_memb=PD(30.7=61.7),PF119333=DUF3451=FE(51.1=100)
A:
NA
C2:
PF119333=DUF3451=PD(16.6=82.2)
Main Inclusion Isoform:
NA
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)