HsaEX6016410 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166009719-166013898:-
Coord C1 exon
chr2:166013744-166013898
Coord A exon
chr2:166012109-166012282
Coord C2 exon
chr2:166009719-166009841
Length
174 bp
Sequences
Splice sites
3' ss Seq
GTGTAACATTTTCTTTATAGGCA
3' ss Score
8.16
5' ss Seq
GATGTAGGT
5' ss Score
4.9
Exon sequences
Seq C1 exon
GCTGTGTACAAAGATTCAAGTGTTGTCAAATCAATGTGGAAGAAGGCAGAGGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCCGAATAGTTGAACATAACTGGTTTGAGACCTTCATTGTTTTCATGATTCTCCTTAGTAGTGGTGCTCTG
Seq A exon
GCATTTGAAGATATATATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAATATGCTGACAAGGTTTTCACTTACATTTTCATTCTGGAAATGCTTCTAAAATGGGTGGCATATGGCTATCAAACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGAT
Seq C2 exon
GTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'38-55,'38-54,39-55=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:
PF065128=Na_trans_assoc=PD(19.7=84.6)
A:
PF0052026=Ion_trans=PU(17.0=67.2)
C2:
PF0052026=Ion_trans=FE(17.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAATGTGGAAGAAGGCAGAGGA
R:
TCCCTTCAAATCGAGATAAGGCT
Band lengths:
242-416
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains