HsaEX6016417 @ hg19
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium channel, voltage-gated, type IX, alpha subunit [Source:HGNC Symbol;Acc:10597]
Coordinates
chr2:167136867-167141334:-
Coord C1 exon
chr2:167140996-167141334
Coord A exon
chr2:167138189-167138318
Coord C2 exon
chr2:167136867-167137105
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
TCACCACTCAGCATTCGTGGCTCCTTGTTTTCTGCAAGGCGAAGCAGCAGAACAAGTCTTTTTAGTTTCAAAGGCAGAGGAAGAGATATAGGATCTGAGACTGAATTTGCCGATGATGAGCACAGCATTTTTGGAGACAATGAGAGCAGAAGGGGCTCACTGTTTGTGCCCCACAGACCCCAGGAGCGACGCAGCAGTAACATCAGCCAAGCCAGTAGGTCCCCACCAATGCTGCCGGTGAACGGGAAAATGCACAGTGCTGTGGACTGCAACGGTGTGGTCTCCCTGGTTGATGGACGCTCAGCCCTCATGCTCCCCAATGGACAGCTTCTGCCAGAG
Seq A exon
GGCACGACCAATCAAATACACAAGAAAAGGCGTTGTAGTTCCTATCTCCTTTCAGAGGATATGCTGAATGATCCCAACCTCAGACAGAGAGCAATGAGTAGAGCAAGCATATTAACAAACACTGTGGAAG
Seq C2 exon
AACTTGAAGAGTCCAGACAAAAATGTCCACCTTGGTGGTACAGATTTGCACACAAATTCTTGATCTGGAATTGCTCTCCATATTGGATAAAATTCAAAAAGTGTATCTATTTTATTGTAATGGATCCTTTTGTAGATCTTGCAATTACCATTTGCATAGTTTTAAACACATTATTTATGGCTATGGAACACCACCCAATGACTGAGGAATTCAAAAATGTACTTGCTATAGGAAATTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-'19-22,'19-21,22-22=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=0.603 A=0.093 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(50.5=100)
A:
PF119333=DUF3451=PD(15.5=81.8)
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCATGCTCCCCAATGGACA
R:
TCCTCAGTCATTGGGTGGTGT
Band lengths:
242-372
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)