HsaEX6024184 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63963672-63966243:-
Coord C1 exon
chr17:63966102-63966243
Coord A exon
chr17:63964468-63964677
Coord C2 exon
chr17:63963672-63963825
Length
210 bp
Sequences
Splice sites
3' ss Seq
CCCTCTCCCTCCACTCCCAGACC
3' ss Score
10.95
5' ss Seq
AAGGTCTGG
5' ss Score
3.93
Exon sequences
Seq C1 exon
GCACTGCCCTGAGGGTTATGAGTGCATCAAGACCGGGCGGAACCCCAACTATGGCTACACCAGCTATGACACCTTCAGCTGGGCCTTCTTGGCTCTCTTCCGCCTCATGACACAGGACTATTGGGAGAACCTCTTCCAGCTG
Seq A exon
ACCCTTCGAGCAGCTGGCAAGACCTACATGATCTTCTTCGTGGTCATCATCTTCCTGGGCTCTTTCTACCTCATCAATCTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATGAGGCCACCCTGGCCGAGGATAAGGAGAAAGAGGAGGAGTTTCAGCAGATGCTTGAGAAGTTCAAAAAGCACCAGGAGGAGCTGGAGAAG
Seq C2 exon
GCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCAGCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCGAGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'10-11,'10-10,11-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.129 C2=0.808
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.3=100)
A:
PF0052026=Ion_trans=PD(10.8=44.3)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGCCCTGAGGGTTATGAGT
R:
CTTCCATGGCGTCGGAGAT
Band lengths:
294-504
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains