HsaEX1036201 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165344555-165354671:+
Coord C1 exon
chr2:165344555-165344911
Coord A exon
chr2:165349901-165350208
Coord C2 exon
chr2:165354192-165354671
Length
308 bp
Sequences
Splice sites
3' ss Seq
TCACTGGAAAAATGGGAAAGGTG
3' ss Score
-3.89
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
CTCCGAGTTTTCAAGTTGGCAAAATCTTGGCCAACTCTAAATATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCTCTAGGAAACCTCACCTTGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATGCAGCTCTTTGGTAAGAGCTACAAAGAATGTGTCTGCAAGATTTCCAATGATTGTGAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGTGGAGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTCGCTGGCCAAACCATGTGCCTTACTGTCTTCATGATGGTCATGGTGATTGGAAATCTAGTG
Seq A exon
GTGTCCCAAAGACAAAATGGCATAACTTCCTTTTAACACACATGAACTATCAGATGTGGCTCCACCCAAATAGATGTAGTAGTCACAATGGATGGGACTGCCAGCCTAGTCTACAGACAAGACAGAGCTGGGACCACAAACTACTGTTTCCCAGACCAGGATTTTTATGAGCCATTCTTAGTTTCCAGACACGATGGCAAGAGACCCTTCATTGGTTGAAGATAGGTGCTGCAGAAAAAGAATGTGACTTTCTGAAAACTGATAGTTCTAGAAGCAGAGAAGACAACTTCCTCTCTCCCTAAGTGAAG
Seq C2 exon
GTTCTGAACCTCTTCTTGGCCTTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATGAATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAAATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAACCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAAATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGCAGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGCCTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAAGAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'43-43,'43-42,44-43
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.121
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(62.1=100)
A:
PF0052026=Ion_trans=PD(1.1=16.7)
C2:
PF0052026=Ion_trans=PD(4.2=5.0),PF065128=Na_trans_assoc=PU(61.3=85.0)
Main Inclusion Isoform:
ENST00000636071fB25251
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
CGGCATGCAGCTCTTTGGTAA
R:
TTTCTGCATCCTTCCCACAGC
Band lengths:
343-651
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains