HsaEX6055208 @ hg38
Exon Skipping
Gene
ENSG00000168356 | SCN11A
Description
sodium voltage-gated channel alpha subunit 11 [Source:HGNC Symbol;Acc:HGNC:10583]
Coordinates
chr3:38845769-38863299:-
Coord C1 exon
chr3:38863195-38863299
Coord A exon
chr3:38850481-38850751
Coord C2 exon
chr3:38845769-38847742
Length
271 bp
Sequences
Splice sites
3' ss Seq
TAATTTCTTTTTTTTCTCAGAAC
3' ss Score
8.14
5' ss Seq
TTAGTAAGT
5' ss Score
7.79
Exon sequences
Seq C1 exon
TTAGGTGGCCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTATAATGCAATGAAAAAATTAGGATCCAAAAAACCTCAAAAACCCATTCCACGGCCTCTG
Seq A exon
AACAAATGTCAAGGTCTCGTGTTCGACATAGTCACAAGCCAGATCTTTGACATCATCATCATAAGTCTCATTATCCTAAACATGATTAGCATGATGGCTGAATCATACAACCAACCCAAAGCCATGAAATCCATCCTTGACCATCTCAACTGGGTCTTTGTGGTCATCTTTACGTTAGAATGTCTCATCAAAATCTTTGCTTTGAGGCAATACTACTTCACCAATGGCTGGAATTTATTTGACTGTGTGGTCGTGCTTCTTTCCATTGTTA
Seq C2 exon
GTACAATGATTTCTACCTTGGAAAATCAGGAGCACATTCCTTTCCCTCCGACGCTCTTCAGAATTGTCCGCTTGGCTCGGATTGGCCGAATCCTGAGGCTTGTCCGGGCTGCACGAGGAATCAGGACTCTCCTCTTTGCTCTGATGATGTCGCTTCCTTCTCTGTTCAACATTGGTCTTCTACTCTTTCTGATTATGTTTATCTATGCCATTCTGGGTATGAACTGGTTTTCCAAAGTGAATCCAGAGTCTGGAATCGATGACATATTCAACTTCAAGACTTTTGCCAGCAGCATGCTCTGTCTCTTCCAGATAAGCACATCAGCAGGTTGGGATTCCCTGCTCAGCCCCATGCTGCGATCAAAAGAATCATGTAACTCTTCCTCAGAAAACTGCCACCTCCCTGGCATAGCCACATCCTACTTTGTCAGTTACATTATCATCTCCTTTCTCATTGTTGTCAACATGTACATTGCTGTGATTTTAGAGAACTTCAATACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168356-'30-33,'30-30,31-33=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=0.000 A=0.000 C2=0.052
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(21.1=47.3)
C2:
PF0052026=Ion_trans=PD(78.4=45.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCAAAAACCCATTCCACGG
R:
TGTCATCGATTCCAGACTCTG
Band lengths:
292-563
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains