HsaINT0145811 @ hg38
Intron Retention
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165374685-165377650:+
Coord C1 exon
chr2:165374685-165374966
Coord A exon
chr2:165374967-165377596
Coord C2 exon
chr2:165377597-165377650
Length
2630 bp
Sequences
Splice sites
5' ss Seq
GTAGTAAGT
5' ss Score
8.01
3' ss Seq
TGATATGACTTTTCTTACAGGCC
3' ss Score
9.1
Exon sequences
Seq C1 exon
GTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATGTACTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAGTGAATCTCTTTGCTGGCAAGTTTTACCATTGTATTAATTACACCACTGGAGAGATGTTTGATGTAAGCGTGGTCAACAACTACAGTGAGTGCAAAGCTCTCATTGAGAGCAATCAAACTGCCAGGTGGAAAAATGTGAAAGTAAACTTTGATAACGTAGGACTTGGATATCTGTCTCTACTTCAAGTA
Seq A exon
GTAAGTAATCACTTTATTATTTTCCATGATGTGTAATTAAAATGAGTCTAAAGTTTTTCTTCCTCATAATGAGATATCCACCTGTTAGAATGGCTATTATCAAACAGATAAATGACAATAAATGCTGGCAAGAATGTGAAGAAAAGGGAACCCTTGTACATTGTTGGCAGGGATGTAAATTAGTATAGCTTTTATGGAAAACAGTATGGAGGTTTCTCAAAAAACTAAAAATAGAACCACTATGTGATCCAACAATTCCATTACTGGGTATATATACAAAGGAAATTAAATCAACATGTCAAAGAGATGTCTGCACTCTCACACTCACTGCAGCACTATTCACAATAGCCAAAATATGGAAACAACCTAATTGTCCATCAACAGATATGTGGATAAAGAAAAGTGTGTGTGTGTGTGTGTGTGTGTACATATATGTATATGTATATATATACACACACGTATTTCTATATACACACGTATAGATATACACTGTATATGTATATATCTATACACATATATAGACATACACAGAAACAGTGTTTGTGTATGTGTGCGTGTATATAGAAGTAGTCAGGGAAGGGGCAGAGCCTGTGGCACTAAGAAACTGAGAAAATGTACAAGACTTTTGTTTTCAGAATTACTATGTCCGCACAACAGAAAAAGTATTTCAAAAAGTAAATGCGCTTGAATGTATTTGTTTTCAGTTTAGGAAACTGCTTCTTTTTGTAGAGTGCCTTAAAATAGTATGTTCAACAATATTAAAAAGATTTTCAAAAATAAGCCCTCGTGATTGATGATTGGTAATAATCATTTAAAAACTTATTGGATGTATATATATGTGTGTGTATACACGCACACACACACACACACACCCCTATAGACATACACAATGAAATAGTATTCAGCCTTTAAAGAAGAAGGAAATCCTGTCCTTTTATACAACATTGATTCACCTGGAGGAAATTAAGTGAAATAAGCCAGGCACAGAAAGACAAATGACACATGATGTCACTTATATATGGAATCTAAAAAACACAAACTCACAGAAACAGAAAGCAGAATGACAATCACCAGGGGCTGGGGGATGATGGGAGATGTTGGTCAAAGGATACAAAATTCAATTCGACAGGAAGAATACATTCTGTAGAGCTATTGTACAGCATGGTGACTATAGTTAATAATAATATATTATATACTTGAAAATAGCTAAGTGAGTAGATATGTTTTCTCATCAGAAAAAAATAAGTATAAGAAGCGATAATTATATATTACTTAGCTTGAGTTAGCCATTTCACAATATATATATATTTGAAAACATCATTTTGTACAACATAAATATATTCATTTTTATTTGTCAATTAAAAAATGAATATATTTTTGAAAAGCAATTAAAATAAAAATGCATATACATTTTAGGAACTCTATATAGATGCACTAAAACTATATAAAAATGATATAATACTATACAACAATAAAATAAAATTTTTCTTCCTCTGTGTTTACAAATACTTCCTTAGGCCCATCTGCCTAGATTCCTCTTACCATGATTGAACTATCTTTTCTGCCCCACGCTGGAAACATGATGGTTCTAAAAACTTTATTGTCTCCCTGACTATGCATTTGGTAGCATAGCCAAGTCCTTTGTTACTGGGAGTTTAATCTAGGCACTCATTGTTTTCCTCCCTTCCTACTCTGAGGAAAGAAGTGCTGGCCCCAAGGGGGGTTGAAAAGGGGTGTGTGTGTGTGTGTGTATGTGTCCACACGCGTGTGTGTAGATAGAGAAAGAGAGAGAGACTTTCAAATAGGAAAATTGCTCTCTTGCAAATGAAAACTTTCCAATTAAGACTATTGTGTCTGCTATGCACTCATAATAATTCATTCAGCTATTCAACTGACTGCAGTATTAAATCTCCACTAGCTCCTGGACACAATCCACTTACACGATCCTCAAGACTATTAAAATAGTCAGGAAAGGGGAAGAGCCTGTGGCACTAAGGAACTGAAAAAATGTACAAGAGTTTTATTTTCAAGATCATTATGTCAACGGAGCAGAAAACAAATATTTAAAAAAGGAAATGCAGTAGAATATATTGTTTTCAGATTAGGAAACTGCTTCCTCTTATAGAGTAATCACCTCAAAATAGTATGATCAACAATATTAAGAAGATTTTCAAGAATAAGCTGTCATGATTGGTGATTGGTGTAATAATCATTTAGAAAAGAATAAGTAGAAAGGAAGCATTAAGATAAATAATGCAGCATACTTTTGAGCTTGTCTCATGCTGCTACTATACACATGAAATTTTTTCATCAAAGTTCATGATATATTTTTATATAAACACATCAGAGTCAAAGATTGTTCATATTGTTTTTATGATAGCATATTGTTACAGTAGATCATTATTTAATTATATATGCTAAATATCCACATAAGATGTTATAGAGGAATATAAATTTGAAGTATTTTCAATGCATATCGCAAAACATTGCCCCAAAAGTGAATACAAATTTCAAGCTTATTTATATGCCTGTATTGAATACATGTCAAATAGAATTTTGATCAATTATTCAATTTATTTTCTAAAATTATAATTTTGGGAAAAAAGAAAATGATATGACTTTTCTTACAG
Seq C2 exon
GCCACGTTTAAGGGATGGATGGATATTATGTATGCAGCTGTTGATTCACGAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531:ENST00000283256:22
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(40.6=100)
A:
NA
C2:
PF0052026=Ion_trans=FE(7.4=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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development