HsaEX0001020 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:165989160-166128022:-
Coord C1 exon
chr2:166127771-166128022
Coord A exon
chr2:166077710-166077801
Coord C2 exon
chr2:165989160-166073670
Length
92 bp
Sequences
Splice sites
3' ss Seq
GACATCTTGGTTGCTTCCAGGTT
3' ss Score
8.19
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
GTACCATAGAGTGAGGCGAGGATGAAGCCGAGAGGATACTGCAGAGGTCTCTGGTGCATGTGTGTATGTGTGCGTTTGTGTGTGTTTGTGTGTCTGTGTGTTCTGCCCCAGTGAGACTGCAGCCCTTGTAAATACTTTGACACCTTTTGCAAGAAGGAATCTGAACAATTGCAACTGAAGGCACATTGTTATCATCTCGTCTTTGGGTGATGCTGTTCCTCACTGCAGATGGATAATTTTCCTTTTAATCAG
Seq A exon
GTTTGGGCAATTATGAATAAGGCTGCTGTATACATCCGTGTGCAGGATTTTGTGTGGACATAAGTTTTCAACTCCTTTGGTTAAATCCTAAG
Seq C2 exon
GAATTTCATATGCAGAATAAATGGTAATTAAAATGTGCAGGATGACAAGATGGAGCAAACAGTGCTTGTACCACCAGGACCTGACAGCTTCAACTTCTTCACCAGAGAATCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAGAATCCCAAACCAGACAAAAAAGATGACGACGAAAATGGCCCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAACCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTGGACCCCTACTATATCAATAAGAAAGTGAGTGTTTTTTATCAGGCATATTTTGCTGCTAATTGCCTACTGCATTCCTTGGACTGTTGTAGCACCAACACATGCCAAATTAGCACAAAATCTTAAGTATCCTTCTGTTTAAGAAATGAAACACATTTGTGGGTGGTTTATGCATATACATGAGAAATGAATTGATTATATCATAACATATGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'1-27,'1-25,8-27
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.184
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF0052026=Ion_trans=PD(79.1=42.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
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:
GGGTGATGCTGTTCCTCACTG
R:
ATGCGTCTTTCAATAGCCGCA
Band lengths:
183-275
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development