HsaEX6016334 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165164392-165170548:-
Coord C1 exon
chr2:165170430-165170548
Coord A exon
chr2:165168736-165168825
Coord C2 exon
chr2:165164392-165164520
Length
90 bp
Sequences
Splice sites
3' ss Seq
ATTCCTTAACTATAATCTACTTT
3' ss Score
-4.37
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
ACTTTTATAGTAATGAATAAAGGAAAGGCAATTTTCCGATTCAGTGCCACCTCTGCCTTGTATATTTTAACTCCACTAAACCCTGTTAGGAAAATTGCTATCAAGATTTTGGTACATTC
Seq A exon
TTTATTCAGCATGCTTATCATGTGCACTATTTTGACCAACTGTGTATTTATGACCTTGAGCAACCCTCCTGACTGGACAAAGAATGTAGA
Seq C2 exon
GTACACATTCACTGGAATCTATACCTTTGAGTCACTTATAAAAATCTTGGCAAGAGGGTTTTGCTTAGAAGATTTTACGTTTCTTCGTGATCCATGGAACTGGCTGGATTTCAGTGTCATTGTGATGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'5-12,'5-9,6-12=AN
Average complexity
A_S
Mappability confidence:
89%=75=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:
NO
A:
PF0052026=Ion_trans=PU(0.7=6.5)
C2:
PF0052026=Ion_trans=FE(16.0=100)
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGCCACCTCTGCCTTGTAT
R:
GCCAGTTCCATGGATCACGAA
Band lengths:
181-271
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains