HsaEX6016403 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166042292-166045327:-
Coord C1 exon
chr2:166045043-166045327
Coord A exon
chr2:166043702-166044049
Coord C2 exon
chr2:166042292-166042424
Length
348 bp
Sequences
Splice sites
3' ss Seq
TTGCTCTTTCAAACTTCTAGTCT
3' ss Score
6.25
5' ss Seq
GAGGTGATA
5' ss Score
3.13
Exon sequences
Seq C1 exon
CAGGCAGCAACGGCAACTGCCTCAGAACATTCCAGAGAGCCCAGTGCAGCAGGCAGGCTCTCAGACAGCTCATCTGAAGCCTCTAAGTTGAGTTCCAAGAGTGCTAAGGAAAGAAGAAATCGGAGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAGATGAGGATGAATTCCAAAAATCTGAATCTGAGGACAGCATCAGGAGGAAAGGTTTTCGCTTCTCCATTGAAGGGAACCGATTGACATATGAAAAGAGGTACTCCTCCCCACACCAG
Seq A exon
TCTTTGTTGAGCATCCGTGGCTCCCTATTTTCACCAAGGCGAAATAGCAGAACAAGCCTTTTCAGCTTTAGAGGGCGAGCAAAGGATGTGGGATCTGAGAACGACTTCGCAGATGATGAGCACAGCACCTTTGAGGATAACGAGAGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGCAACCTGAGTCAGACCAGTAGGTCATCCCGGATGCTGGCAGTGTTTCCAGCGAATGGGAAGATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTTGGTGGACCTTCAGTTCCTACATCGCCTGTTGGACAGCTTCTGCCAGAG
Seq C2 exon
GGAACAACCACTGAAACTGAAATGAGAAAGAGAAGGTCAAGTTCTTTCCACGTTTCCATGGACTTTCTAGAAGATCCTTCCCAAAGGCAACGAGCAATGAGTATAGCCAGCATTCTAACAAATACAGTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'23-44,'23-43,27-44=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.863 A=0.651 C2=0.231
Domain overlap (PFAM):
C1:
PF0253517=Zip=PD(45.5=80.0),PF0293211=Neur_chan_memb=FE(50.0=100),PF119333=DUF3451=PU(31.1=73.7)
A:
PF0293211=Neur_chan_memb=PD(15.0=24.1),PF119333=DUF3451=FE(51.1=100)
C2:
PF119333=DUF3451=PD(15.7=82.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACATTCCAGAGAGCCCAGTG
R:
ATTGCTCGTTGCCTTTGGGAA
Band lengths:
358-706
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains