HsaEX6016364 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166164358-166165953:+
Coord C1 exon
chr2:166164358-166164447
Coord A exon
chr2:166165176-166165304
Coord C2 exon
chr2:166165862-166165953
Length
129 bp
Sequences
Splice sites
3' ss Seq
GCTTGGCTATTTTCTCTCAGGTA
3' ss Score
7.75
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
TTTATTCAATATGCTCATTATGTGCACGATTCTTACCAACTGTGTATTTATGACCATGAGTAACCCTCCAGACTGGACAAAGAATGTGGA
Seq A exon
GTATACCTTTACAGGAATTTATACTTTTGAATCACTTATTAAAATACTTGCAAGGGGCTTTTGTTTAGAAGATTTCACATTTTTACGGGATCCATGGAATTGGTTGGATTTCACAGTCATTACTTTTGC
Seq C2 exon
ATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGTTGAGAACATTCAGAGTTCTCCGAGCATTGAAAACAATTTCAGTCATTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'4-7,'4-5,5-7=AN
Average complexity
A_C1
Mappability confidence:
89%=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:
PF0052026=Ion_trans=PU(0.7=6.5)
A:
PF0052026=Ion_trans=FE(16.0=100)
C2:
PF0052026=Ion_trans=FE(11.6=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:
TGCTCATTATGTGCACGATTCT
R:
TGTTTTCAATGCTCGGAGAACTCT
Band lengths:
155-284
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)