HsaEX7001534 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166077710-166128022:-
Coord C1 exon
chr2:166127771-166128022
Coord A exon
chr2:166126924-166127010
Coord C2 exon
chr2:166077710-166077801
Length
87 bp
Sequences
Splice sites
3' ss Seq
TGAACCGTCTTGCTTTTCAGAAC
3' ss Score
10.7
5' ss Seq
GAGGTATGT
5' ss Score
9.81
Exon sequences
Seq C1 exon
GTACCATAGAGTGAGGCGAGGATGAAGCCGAGAGGATACTGCAGAGGTCTCTGGTGCATGTGTGTATGTGTGCGTTTGTGTGTGTTTGTGTGTCTGTGTGTTCTGCCCCAGTGAGACTGCAGCCCTTGTAAATACTTTGACACCTTTTGCAAGAAGGAATCTGAACAATTGCAACTGAAGGCACATTGTTATCATCTCGTCTTTGGGTGATGCTGTTCCTCACTGCAGATGGATAATTTTCCTTTTAATCAG
Seq A exon
AACAGCATAAGAATTATTTCTGAGTGGAGGTGAGGCTTGTCCAAATGTCTTTGCTATCATGGATTTCCTGACTCCTACCTGTTTGAG
Seq C2 exon
GTTTGGGCAATTATGAATAAGGCTGCTGTATACATCCGTGTGCAGGATTTTGTGTGGACATAAGTTTTCAACTCCTTTGGTTAAATCCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'1-25,'1-9,3-25=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGAGACTGCAGCCCTTGTA
R:
CACGGATGTATACAGCAGCCT
Band lengths:
183-270
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains