HsaEX6055154 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38562415-38575451:-
Coord C1 exon
chr3:38575297-38575451
Coord A exon
chr3:38566409-38566582
Coord C2 exon
chr3:38562415-38562537
Length
174 bp
Sequences
Splice sites
3' ss Seq
TTGTCTGGCCTTGTCTGCAGGCC
3' ss Score
9.51
5' ss Seq
GACGTGAGT
5' ss Score
9.22
Exon sequences
Seq C1 exon
GCTGTGTCCGGCGCTGTCCCTGCTGTGCGGTGGACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCTGGTTCGAGACATTCATCATCTTCATGATCCTACTCAGCAGTGGAGCGCTG
Seq A exon
GCCTTCGAGGACATCTACCTAGAGGAGCGGAAGACCATCAAGGTTCTGCTTGAGTATGCCGACAAGATGTTCACATATGTCTTCGTGCTGGAGATGCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC
Seq C2 exon
GTCTCTCTGGTCAGCCTGGTGGCCAACACCCTGGGCTTTGCCGAGATGGGCCCCATCAAGTCACTGCGGACGCTGCGTGCACTCCGTCCTCTGAGAGCTCTGTCACGATTTGAGGGCATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'29-38,'29-36,30-38=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=PD(16.7=84.6)
A:
PF0052026=Ion_trans=PU(17.0=67.2)
C2:
PF0052026=Ion_trans=FE(17.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCTGTGCGGTGGACAC
R:
CGTGACAGAGCTCTCAGAGGA
Band lengths:
243-417
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains