HsaEX6016333 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165168736-165176444:-
Coord C1 exon
chr2:165176131-165176444
Coord A exon
chr2:165170430-165170548
Coord C2 exon
chr2:165168736-165168825
Length
119 bp
Sequences
Splice sites
3' ss Seq
ACTCGTATTTTCTTTTTCAGACT
3' ss Score
10.27
5' ss Seq
TTCATATCC
5' ss Score
-14.87
Exon sequences
Seq C1 exon
GTAATTCGTATGCAAGAAGCTACACGTAATTAAATGTGCAGGATGAAAAGATGGCACAGGCACTGTTGGTACCCCCAGGACCTGAAAGCTTCCGCCTTTTTACTAGAGAATCTCTTGCTGCTATCGAAAAACGTGCTGCAGAAGAGAAAGCCAAGAAGCCCAAAAAGGAACAAGATAATGATGATGAGAACAAACCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAACCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTGGATCCCTACTATATCAATAAGAAA
Seq A exon
ACTTTTATAGTAATGAATAAAGGAAAGGCAATTTTCCGATTCAGTGCCACCTCTGCCTTGTATATTTTAACTCCACTAAACCCTGTTAGGAAAATTGCTATCAAGATTTTGGTACATTC
Seq C2 exon
TTTATTCAGCATGCTTATCATGTGCACTATTTTGACCAACTGTGTATTTATGACCTTGAGCAACCCTCCTGACTGGACAAAGAATGTAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'4-9,'4-8,5-9=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.330 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.7=6.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTGCAGAAGAGAAAGCCA
R:
AGGAGGGTTGCTCAAGGTCAT
Band lengths:
252-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains