HsaEX6055145 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38604729-38606810:-
Coord C1 exon
chr3:38606669-38606810
Coord A exon
chr3:38605951-38606148
Coord C2 exon
chr3:38604729-38604908
Length
198 bp
Sequences
Splice sites
3' ss Seq
CTGCCCCCTTGCTCCCCCAGACC
3' ss Score
11.46
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
GACATGTCCGGAGGGCTACCGGTGCCTAAAGGCAGGCGAGAACCCCGACCACGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCTTCCGCCTGATGACGCAGGACTGCTGGGAGCGCCTCTATCAGCAG
Seq A exon
ACCCTCAGGTCCGCAGGGAAGATCTACATGATCTTCTTCATGCTTGTCATCTTCCTGGGGTCCTTCTACCTGGTGAACCTGATCCTGGCCGTGGTCGCAATGGCCTATGAGGAGCAAAACCAAGCCACCATCGCTGAGACCGAGGAGAAGGAAAAGCGCTTCCAGGAGGCCATGGAAATGCTCAAGAAAGAACACGAG
Seq C2 exon
GCCCTCACCATCAGGGGTGTGGATACCGTGTCCCGTAGCTCCTTGGAGATGTCCCCTTTGGCCCCAGTAAACAGCCATGAGAGAAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'15-20,'15-19,16-20=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=0.167 C2=0.733
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(18.5=100)
A:
PF0052026=Ion_trans=PD(12.2=47.0)
C2:
PF119333=DUF3451=PU(21.6=75.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTTCGATTCCTTTGCCTGG
R:
TCTGAGTCAGACTTGGGGAGC
Band lengths:
242-440
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains