HsaEX6016354 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165354192-165367371:+
Coord C1 exon
chr2:165354192-165354671
Coord A exon
chr2:165365143-165365263
Coord C2 exon
chr2:165367217-165367371
Length
121 bp
Sequences
Splice sites
3' ss Seq
TTTGTGGGATTGATTTTCAGAAG
3' ss Score
5.33
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GTTCTGAACCTCTTCTTGGCCTTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATGAATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAAATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAACCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAAATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGCAGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGCCTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAAGAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAG
Seq A exon
AAGCTAAATGCAACTAGTTCATCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAGGGAGAACAGCCTGAGGTTGAACCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAG
Seq C2 exon
ACTGTGTACGGAAGTTCAAGTGTTGTCAGATAAGCATAGAAGAAGGCAAAGGGAAACTCTGGTGGAATTTGAGGAAAACATGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTGAGCAGTGGGGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'45-48,'45-45,47-48=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=0.121 A=0.799 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.0),PF065128=Na_trans_assoc=PU(61.3=85.0)
A:
PF065128=Na_trans_assoc=FE(18.0=100)
C2:
PF065128=Na_trans_assoc=PD(19.8=84.6)
Main Skipping Isoform:
ENST00000636071fB25252
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTAGTGGCATAGGCAGCAGT
R:
CCACCAGAGTTTCCCTTTGCC
Band lengths:
242-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains