HsaEX6016347 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165097252-165113058:-
Coord C1 exon
chr2:165112885-165113058
Coord A exon
chr2:165100302-165100424
Coord C2 exon
chr2:165097252-165097524
Length
123 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTTTTCCTTTTGTAGGTT
3' ss Score
12.19
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
GCCTTTGAAGATATATACATTGAACAGCGAAAGACTATCAAAACCATGCTAGAATATGCTGACAAAGTCTTTACCTATATATTCATTCTGGAAATGCTTCTCAAATGGGTTGCTTATGGATTTCAAACATATTTCACTAATGCCTGGTGCTGGCTAGATTTCTTGATCGTTGAT
Seq A exon
GTTTCTTTGGTTAGCCTGGTAGCCAATGCTCTTGGCTACTCAGAACTCGGTGCCATCAAATCATTACGGACATTAAGAGCTTTAAGACCTCTAAGAGCCTTATCCCGGTTTGAAGGCATGAGG
Seq C2 exon
GTGGTTGTGAATGCTCTTGTTGGAGCAATTCCCTCTATCATGAATGTGCTGTTGGTCTGTCTCATCTTCTGGTTGATCTTTAGCATCATGGGTGTGAATTTGTTTGCTGGCAAGTTCTACCACTGTGTTAACATGACAACGGGTAACATGTTTGACATTAGTGATGTTAACAATTTGAGTGACTGTCAGGCTCTTGGCAAGCAAGCTCGGTGGAAAAACGTGAAAGTAAACTTTGATAATGTTGGCGCTGGCTATCTTGCACTGCTTCAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'34-44,'34-39,36-44=AN
Average complexity
A_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:
PF0052026=Ion_trans=PU(17.3=67.2)
A:
PF0052026=Ion_trans=FE(17.7=100)
C2:
PF0052026=Ion_trans=FE(39.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCACTAATGCCTGGTGCTGG
R:
CTTGCCAAGAGCCTGACAGTC
Band lengths:
243-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains