HsaEX0056562 @ hg38
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium voltage-gated channel alpha subunit 7 [Source:HGNC Symbol;Acc:HGNC:10594]
Coordinates
chr2:166432318-166438282:-
Coord C1 exon
chr2:166438182-166438282
Coord A exon
chr2:166436347-166436440
Coord C2 exon
chr2:166432318-166432752
Length
94 bp
Sequences
Splice sites
3' ss Seq
ACTGACTCACGGTTCCACAGGGC
3' ss Score
7.69
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
Exon sequences
Seq C1 exon
GATGGCAGCAAGGAGAAGTGCATAGTGAAGCAGGGGAAAGCCCCTTATAAAACCATCAGATCTTCTGAGAACTCACTCACTATCATGAGAATAGCATGGAG
Seq A exon
GGCTTGGGAGGCCTCAGGAAACTTACAATCACGGTGGAAGAGGAAGCAGGCATGTCCTTCACATTGCAGCAGCAAGGAGAAGTGCAGAGTGAAG
Seq C2 exon
GTACTTTACCTGTTTCTGGCATTGGTGAGCTCATTTAGTTCATGCAAGGATGTAACAGCTGAAGAGAATAATGAAGCAAAAAATCTCCAGCTTGCAGTGGCAAGAATTAAAAAAGGAATAAACTATGTGCTTCTTAAAATACTATGCAAAACACAAAATGTCCCAAAGGACACAATGGACCATGTAAATGAGGTATATGTTAAAGAAGATATTTCTGACCATACCCTTTCTGAATTGAGCAACACCCAAGATTTTCTCAAAGATAAGGAAAAAAGCAGTGGCACAGAGAAAAACGCTACTGAAAATGAGAGCCAATCACTTATCCCCAGTCCTAGTGTCTCAGAAACTGTACCAATTGCTTCAGGAGAATCTGATATAGAAAATCTGGATAATAAGGAGATTCAGAGTAAGTCTGGTGATGGAGGCAGCAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546-'23-31,'23-30,24-31
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.419
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(0.1=0.0)
A:
PF0052026=Ion_trans=PD(1.1=6.2)
C2:
PF0052026=Ion_trans=PD(4.2=5.5),PF065128=Na_trans_assoc=PU(60.1=84.1)
Main Skipping Isoform:
ENST00000409855fB25266
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATAGTGAAGCAGGGGAAAGCC
R:
GCCACTGCAAGCTGGAGATTT
Band lengths:
181-275
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development