HsaEX6016344 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165113816-165128101:-
Coord C1 exon
chr2:165127631-165128101
Coord A exon
chr2:165115455-165115575
Coord C2 exon
chr2:165113816-165113970
Length
121 bp
Sequences
Splice sites
3' ss Seq
AAATGGGATTTTGTTTCCAGAAA
3' ss Score
5.06
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GTTCTGAACCTCTTTCTGGCCTTATTGTTGAGTTCATTTAGCTCAGACAACCTTGCTGCTACTGATGATGACAATGAAATGAATAATCTGCAGATTGCAGTAGGAAGAATGCAAAAGGGAATTGATTATGTGAAAAATAAGATGCGGGAGTGTTTCCAAAAAGCCTTTTTTAGAAAGCCAAAAGTTATAGAAATCCATGAAGGCAATAAGATAGACAGCTGCATGTCCAATAATACTGGAATTGAAATAAGCAAAGAGCTTAATTATCTTAGAGATGGGAATGGAACCACCAGTGGTGTAGGTACTGGAAGCAGTGTTGAAAAATACGTAATCGATGAAAATGATTATATGTCATTCATAAACAACCCCAGCCTCACCGTCACAGTGCCAATTGCTGTTGGAGAGTCTGACTTTGAAAACTTAAATACTGAAGAGTTCAGCAGTGAGTCAGAACTAGAAGAAAGCAAAGAG
Seq A exon
AAATTAAATGCAACCAGCTCATCTGAAGGAAGCACAGTTGATGTTGTTCTACCCCGAGAAGGTGAACAAGCTGAAACTGAACCCGAAGAAGACCTTAAACCGGAAGCTTGTTTTACTGAAG
Seq C2 exon
GATGTATTAAAAAGTTTCCATTCTGTCAAGTAAGTACAGAAGAAGGCAAAGGGAAGATCTGGTGGAATCTTCGAAAAACCTGCTACAGTATTGTTGAGCACAACTGGTTTGAGACTTTCATTGTGTTCATGATCCTTCTCAGTAGTGGTGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'28-35,'28-34,32-35
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.146 A=0.630 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(60.7=84.7)
A:
PF065128=Na_trans_assoc=FE(18.3=100)
C2:
PF065128=Na_trans_assoc=PD(20.1=84.6)
Main Skipping Isoform:
ENST00000283254fB25255
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGTAGGTACTGGAAGCAGT
R:
CCACCAGATCTTCCCTTTGCC
Band lengths:
243-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains