HsaEX6016333 @ hg19
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:166025246-166032954:-
Coord C1 exon
chr2:166032641-166032954
Coord A exon
chr2:166026940-166027058
Coord C2 exon
chr2:166025246-166025335
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-'3-5,'3-4,4-5=AN
Average complexity
A_S
Mappability confidence:
88%=100=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:
PF0008319=Sugar_tr=PU(38.9=70.0)
C2:
PF0008319=Sugar_tr=FE(41.7=100),PF0052026=Ion_trans=PU(4.4=6.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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
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)