HsaEX6055185 @ hg38
Exon Skipping
Gene
ENSG00000168356 | SCN11A
Description
sodium voltage-gated channel alpha subunit 11 [Source:HGNC Symbol;Acc:HGNC:10583]
Coordinates
chr3:38945411-38950561:-
Coord C1 exon
chr3:38950096-38950561
Coord A exon
chr3:38946789-38946907
Coord C2 exon
chr3:38945411-38945512
Length
119 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTTTTGTTTTGCAGACA
3' ss Score
11.48
5' ss Seq
TTCATATCC
5' ss Score
-14.87
Exon sequences
Seq C1 exon
TCCTGCTATACCCACAGTGGTGGTCATCTCTTCTGATCTTCACAGCCAATCAGCTCCCAAGGCCCCTGACCTCAGCTCAGCTTTTGTAGATCCTTATGACACCATCCTTTAAGACTGGAATCCTAGGGCAGGCTGTTTTATTCCCGCCTCCTGAGGCCTTTCTGAGGATCTGTGGCTTGTCTCTGTCCTGAGGGTGAAGATGGATGACAGATGCTACCCAGTAATCTTTCCAGATGAGCGGAATTTCCGCCCCTTCACTTCCGACTCTCTGGCTGCAATTGAGAAGCGGATTGCCATCCAAAAGGAGAAAAAGAAGTCTAAAGACCAGACAGGAGAAGTACCCCAGCCTCGGCCTCAGCTTGACCTAAAGGCCTCCAGGAAGTTGCCCAAGCTCTATGGCGACATTCCTCGTGAGCTCATAGGAAAGCCTCTGGAAGACTTGGACCCATTCTACCGAAATCATAAG
Seq A exon
ACATTTATGGTGTTAAACAGAAAGAGGACAATCTACCGCTTCAGTGCCAAGCATGCCTTGTTCATTTTTGGGCCTTTCAATTCAATCAGAAGTTTAGCCATTAGAGTCTCAGTCCATTC
Seq C2 exon
ATTGTTCAGCATGTTCATTATCGGCACCGTTATCATCAACTGCGTGTTCATGGCTACAGGGCCTGCTAAAAACAGCAACAGTAACAATACTGACATTGCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168356-'0-2,'0-1,2-2=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.211 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.8=5.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGGCTGCAATTGAGAAGCG
R:
AGCCATGAACACGCAGTTGAT
Band lengths:
254-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains