HsaINT0145822 @ hg38
Intron Retention
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165313620-165314108:+
Coord C1 exon
chr2:165313620-165313761
Coord A exon
chr2:165313762-165313901
Coord C2 exon
chr2:165313902-165314108
Length
140 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
ATCTCTCTTCCATTTTGCAGACA
3' ss Score
10.12
Exon sequences
Seq C1 exon
CCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCCAACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTCATGACTCAAGACTTCTGGGAAAACCTTTATCAACTG
Seq A exon
GTGAGAACAGATAAAATCATTTTTCTGAGAATCATAAAACACCGAACTCAAGAGAATTGCTGTAGAATATTTTATTACTTAGAGTGTAAGTTTGTAACATCCTATATAAAATTTATTAAAATCTCTCTTCCATTTTGCAG
Seq C2 exon
ACACTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATCTTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAACAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531:ENST00000283256:9
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=0.057
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.2=100),PF0253517=Zip=PU(12.4=43.8)
A:
NA
C2:
PF0052026=Ion_trans=PD(10.7=44.9),PF0253517=Zip=FE(40.2=100),PF0043013=ATP-synt_B=PU(79.5=89.9)
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:
AGGCTGGTAGAAACCCCAACT
R:
TTCAGCCTCTTCCAATGTGGC
Band lengths:
257-397
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