HsaEX6016358 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165323156-165331568:+
Coord C1 exon
chr2:165323156-165323500
Coord A exon
chr2:165326852-165326984
Coord C2 exon
chr2:165331330-165331568
Length
133 bp
Sequences
Splice sites
3' ss Seq
ATCTGAAATTCTACTTCTAGGGC
3' ss Score
7.82
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
TCCTTACTGAGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTCAGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACCTTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGGCGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATGAATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCTTCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG
Seq A exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
Seq C2 exon
AACTTGAAGAATCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGACTGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTTGTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCACTATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'32-39,'32-35,33-39=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.534 A=0.333 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(51.1=100)
A:
PF119333=DUF3451=PD(16.6=82.2)
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AAGATGCATAGCGCTGTGGAC
R:
AATGCAGATGGTGATGGCCAG
Band lengths:
248-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains