HsaEX6016352 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165367217-165373347:+
Coord C1 exon
chr2:165367217-165367371
Coord A exon
chr2:165370126-165370299
Coord C2 exon
chr2:165373225-165373347
Length
174 bp
Sequences
Splice sites
3' ss Seq
TAGAATTTTTTGACTTACAGGCC
3' ss Score
6.94
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
ACTGTGTACGGAAGTTCAAGTGTTGTCAGATAAGCATAGAAGAAGGCAAAGGGAAACTCTGGTGGAATTTGAGGAAAACATGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTGAGCAGTGGGGCTCTG
Seq A exon
GCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACCATGTTAGAATATGCTGACAAGGTTTTCACTTACATATTCATTCTGGAAATGCTGCTAAAGTGGGTTGCATATGGTTTTCAAGTGTATTTTACCAATGCCTGGTGCTGGCTAGACTTCCTGATTGTTGAT
Seq C2 exon
GTCTCACTGGTTAGCTTAACTGCAAATGCCTTGGGTTACTCAGAACTTGGTGCCATCAAATCCCTCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=PD(19.8=84.6)
A:
PF0052026=Ion_trans=PU(17.0=67.2)
C2:
PF0052026=Ion_trans=FE(17.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGAAGTTCAAGTGTTGTCAGA
R:
CAAAGCTCTCAGTGGCCTCAG
Band lengths:
250-424
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains