HsaALTD0005698-2/2 @ hg38
Alternative 5'ss
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38548057-38554549:-
Coord C1 exon
chr3:38554375-38554549
Coord A exon
chr3:38554279-38554374
Coord C2 exon
chr3:38548057-38551558
Length
96 bp
Sequences
Splice sites
5' ss Seq
TGGGTGGGT
5' ss Score
3.82
3' ss Seq
GTCTCTGTTGTTTCCCACAGGCA
3' ss Score
12.66
Exon sequences
Seq C1 exon
AACAAGTACCAGGGCTTCATATTCGACATTGTGACCAAGCAGGCCTTTGACGTCACCATCATGTTTCTGATCTGCTTGAATATGGTGACCATGATGGTGGAGACAGATGACCAAAGTCCTGAGAAAATCAACATCTTGGCCAAGATCAACCTGCTCTTTGTGGCCATCTTCACAG
Seq A exon
GCGAGTGTATTGTCAAGCTGGCTGCCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACTTCGTGGTTGTCATCCTCTCCATCGTGG
Seq C2 exon
GCACTGTGCTCTCGGACATCATCCAGAAGTACTTCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACTGATCCGAGGGGCCAAGGGGATCCGCACGCTGCTCTTTGCCCTCATGATGTCCCTGCCTGCCCTCTTCAACATCGGGCTGCTGCTCTTCCTCGTCATGTTCATCTACTCCATCTTTGGCATGGCCAACTTCGCTTATGTCAAGTGGGAGGCTGGCATCGACGACATGTTCAACTTCCAGACCTTCGCCAACAGCATGCTGTGCCTCTTCCAGATCACCACGTCGGCCGGCTGGGATGGCCTCCTCAGCCCCATCCTCAACACTGGGCCGCCCTACTGCGACCCCACTCTGCCCAACAGCAATGGCTCTCGGGGGGACTGCGGGAGCCCAGCCGTGGGCATCCTCTTCTTCACCACCTACATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATTGCCATCATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-37-49,38-49-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.170
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PU(22.7=83.1)
A:
NA
C2:
PF0052026=Ion_trans=PD(79.0=40.2)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGACATTGTGACCAAGCAGG
R:
GGATGATGTCCGAGAGCACAG
Band lengths:
177-273
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development