HsaEX6055153 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38566409-38576781:-
Coord C1 exon
chr3:38576661-38576781
Coord A exon
chr3:38575297-38575451
Coord C2 exon
chr3:38566409-38566582
Length
155 bp
Sequences
Splice sites
3' ss Seq
ACCCTCACTCTCTCCCATAGGCT
3' ss Score
11.2
5' ss Seq
CTGGTACCC
5' ss Score
3.61
Exon sequences
Seq C1 exon
ACCCCAGAGGACAGTTGCTCCGAGGGCAGCACAGCAGACATGACCAACACCGCTGAGCTCCTGGAGCAGATCCCTGACCTCGGCCAGGATGTCAAGGACCCAGAGGACTGCTTCACTGAAG
Seq A exon
GCTGTGTCCGGCGCTGTCCCTGCTGTGCGGTGGACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCTGGTTCGAGACATTCATCATCTTCATGATCCTACTCAGCAGTGGAGCGCTG
Seq C2 exon
GCCTTCGAGGACATCTACCTAGAGGAGCGGAAGACCATCAAGGTTCTGCTTGAGTATGCCGACAAGATGTTCACATATGTCTTCGTGCTGGAGATGCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'28-36,'28-34,29-36=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.666 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=FE(15.2=100)
A:
PF065128=Na_trans_assoc=PD(16.7=84.6)
C2:
PF0052026=Ion_trans=PU(17.0=67.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATGACCAACACCGCTGAG
R:
TACGATGAGGAAGTCGAGCCA
Band lengths:
256-411
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains