HsaEX0056542 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166183362-166188078:+
Coord C1 exon
chr2:166183362-166183494
Coord A exon
chr2:166184914-166185048
Coord C2 exon
chr2:166187840-166188078
Length
135 bp
Sequences
Splice sites
3' ss Seq
GCTCCTCCCTGTCCCTCCAGGTA
3' ss Score
12.7
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
Seq A exon
GTAAATCTTTTGAAGATTGTCTGGCCTTCCGCTCCTTGCCATAGCAAAACCACTGAGAGGAAGCTGCCAGTGGTTCTGCTACCGATGTCAGCAGCATGTCTGCTCCCTAAAGCAGGAAGTAGAGAAGGAGACAGG
Seq C2 exon
AACTTGAAGAATCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGACTGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTTGTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCACTATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'17-17,'17-16,18-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(16.6=82.2)
A:
NO
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCAGTATTTTGACCAACACCA
R:
GTACACTGCTGAACTGCTCCG
Band lengths:
251-386
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
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)