HsaEX1036227 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166251765-166272875:-
Coord C1 exon
chr2:166272399-166272875
Coord A exon
chr2:166259206-166259287
Coord C2 exon
chr2:166251765-166251885
Length
82 bp
Sequences
Splice sites
3' ss Seq
ACCTAACCTTCTTCTCACAGGGG
3' ss Score
9.23
5' ss Seq
CAGGTTACC
5' ss Score
-1.62
Exon sequences
Seq C1 exon
GTCCTAAACCTATTTCTGGCCTTATTATTGAGCTCATTTAGTTCAGACAATCTTACAGCAATTGAAGAAGACCCTGATGCAAACAACCTCCAGATTGCAGTGACTAGAATTAAAAAGGGAATAAATTATGTGAAACAAACCTTACGTGAATTTATTCTAAAAGCATTTTCCAAAAAGCCAAAGATTTCCAGGGAGATAAGACAAGCAGAAGATCTGAATACTAAGAAGGAAAACTATATTTCTAACCATACACTTGCTGAAATGAGCAAAGGTCACAATTTCCTCAAGGAAAAAGATAAAATCAGTGGTTTTGGAAGCAGCGTGGACAAACACTTGATGGAAGACAGTGATGGTCAATCATTTATTCACAATCCCAGCCTCACAGTGACAGTGCCAATTGCACCTGGGGAATCCGATTTGGAAAATATGAATGCTGAGGAACTTAGCAGTGATTCGGATAGTGAATACAGCAAAGTG
Seq A exon
GGGTAATATCAAACTGGATCAGTCAAGGATGCAGCTCTGTGCTTTTAACCAGGCAGAGACATATGTCACCACTTTTACACAG
Seq C2 exon
AGATTAAACCGGTCAAGCTCCTCAGAGTGCAGCACAGTTGATAACCCTTTGCCTGGAGAAGGAGAAGAAGCAGAGGCTGAACCTATGAATTCCGATGAGCCAGAGGCCTGTTTCACAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432_MULTIEX1-1/5=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.259 A=1.000 C2=0.624
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.0),PF065128=Na_trans_assoc=PU(61.1=84.9)
A:
NO
C2:
PF065128=Na_trans_assoc=FE(18.1=100)
Main Inclusion Isoform:
ENST00000303354fB25272
Other Inclusion Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAATCCCAGCCTCACAGTGAC
R:
TCCTTCTCCAGGCAAAGGGTT
Band lengths:
172-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains