HsaEX6016416 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166284486-166288643:-
Coord C1 exon
chr2:166288437-166288643
Coord A exon
chr2:166286336-166286623
Coord C2 exon
chr2:166284486-166284824
Length
288 bp
Sequences
Splice sites
3' ss Seq
TAACGTCTTGGCCCAACCAGGCA
3' ss Score
5.17
5' ss Seq
CAGGTACCA
5' ss Score
7.88
Exon sequences
Seq C1 exon
ACGCTGCGTGCTGCTGGCAAAACCTACATGATCTTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTGGTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAATTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAG
Seq A exon
GCAATTGCAGCGGCAGCGGCTGAATATACAAGTATTAGGAGAAGCAGAATTATGGGCCTCTCAGAGAGTTCTTCTGAAACATCCAAACTGAGCTCTAAAAGTGCTAAAGAAAGAAGAAACAGAAGAAAGAAAAAGAATCAAAAGAAGCTCTCCAGTGGAGAGGAAAAGGGAGATGCTGAGAAATTGTCGAAATCAGAATCAGAGGACAGCATCAGAAGAAAAAGTTTCCACCTTGGTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAG
Seq C2 exon
TCACCACTCAGCATTCGTGGCTCCTTGTTTTCTGCAAGGCGAAGCAGCAGAACAAGTCTTTTTAGTTTCAAAGGCAGAGGAAGAGATATAGGATCTGAGACTGAATTTGCCGATGATGAGCACAGCATTTTTGGAGACAATGAGAGCAGAAGGGGCTCACTGTTTGTGCCCCACAGACCCCAGGAGCGACGCAGCAGTAACATCAGCCAAGCCAGTAGGTCCCCACCAATGCTGCCGGTGAACGGGAAAATGCACAGTGCTGTGGACTGCAACGGTGTGGTCTCCCTGGTTGATGGACGCTCAGCCCTCATGCTCCCCAATGGACAGCTTCTGCCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-'20-24,'20-23,21-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.014 A=0.760 C2=0.602
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(12.5=44.9),PF0253517=Zip=FE(38.0=100)
A:
PF0253517=Zip=PD(49.2=91.7),PF119333=DUF3451=PU(33.5=74.0)
C2:
PF119333=DUF3451=FE(50.5=100)
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:
ACTTGATCCTGGCTGTGGTTG
R:
ACAAACAGTGAGCCCCTTCTG
Band lengths:
298-586
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains