HsaEX6016417 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166280357-166284824:-
Coord C1 exon
chr2:166284453-166284824
Coord A exon
chr2:166281679-166281808
Coord C2 exon
chr2:166280357-166280595
Length
130 bp
Sequences
Splice sites
3' ss Seq
TTAATTGATTTTTTTTTTAGGGC
3' ss Score
9.8
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
TCACCACTCAGCATTCGTGGCTCCTTGTTTTCTGCAAGGCGAAGCAGCAGAACAAGTCTTTTTAGTTTCAAAGGCAGAGGAAGAGATATAGGATCTGAGACTGAATTTGCCGATGATGAGCACAGCATTTTTGGAGACAATGAGAGCAGAAGGGGCTCACTGTTTGTGCCCCACAGACCCCAGGAGCGACGCAGCAGTAACATCAGCCAAGCCAGTAGGTCCCCACCAATGCTGCCGGTGAACGGGAAAATGCACAGTGCTGTGGACTGCAACGGTGTGGTCTCCCTGGTTGATGGACGCTCAGCCCTCATGCTCCCCAATGGACAGCTTCTGCCAGAGGTGATAATAGATAAGGCAACTTCTGATGACAGC
Seq A exon
GGCACGACCAATCAAATACACAAGAAAAGGCGTTGTAGTTCCTATCTCCTTTCAGAGGATATGCTGAATGATCCCAACCTCAGACAGAGAGCAATGAGTAGAGCAAGCATATTAACAAACACTGTGGAAG
Seq C2 exon
AACTTGAAGAGTCCAGACAAAAATGTCCACCTTGGTGGTACAGATTTGCACACAAATTCTTGATCTGGAATTGCTCTCCATATTGGATAAAATTCAAAAAGTGTATCTATTTTATTGTAATGGATCCTTTTGTAGATCTTGCAATTACCATTTGCATAGTTTTAAACACATTATTTATGGCTATGGAACACCACCCAATGACTGAGGAATTCAAAAATGTACTTGCTATAGGAAATTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-'24-27,'24-26,27-27=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.580 A=0.106 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(52.8=100)
A:
PF119333=DUF3451=PD(15.5=81.8)
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
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:
ACAGCTTCTGCCAGAGGTGAT
R:
TCCTCAGTCATTGGGTGGTGT
Band lengths:
257-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains