HsaEX6016401 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166045043-166047768:-
Coord C1 exon
chr2:166047627-166047768
Coord A exon
chr2:166046770-166046976
Coord C2 exon
chr2:166045043-166045327
Length
207 bp
Sequences
Splice sites
3' ss Seq
TCTGATATTTTTGTTTGCAGACA
3' ss Score
9.07
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
CCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTATGGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACTCAGGACTTCTGGGAAAATCTTTATCAACTG
Seq A exon
ACATTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTATTGGTCATTTTCTTGGGCTCATTCTACCTAATAAATTTGATCCTGGCTGTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGAAGCAGAACAGAAAGAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAG
Seq C2 exon
CAGGCAGCAACGGCAACTGCCTCAGAACATTCCAGAGAGCCCAGTGCAGCAGGCAGGCTCTCAGACAGCTCATCTGAAGCCTCTAAGTTGAGTTCCAAGAGTGCTAAGGAAAGAAGAAATCGGAGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAGATGAGGATGAATTCCAAAAATCTGAATCTGAGGACAGCATCAGGAGGAAAGGTTTTCGCTTCTCCATTGAAGGGAACCGATTGACATATGAAAAGAGGTACTCCTCCCCACACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'21-41,'21-40,22-41=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.188 C2=0.863
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(17.6=100),PF0253517=Zip=PU(12.0=41.7)
A:
PF0052026=Ion_trans=PD(11.6=44.9),PF0253517=Zip=FE(40.7=100),PF0293211=Neur_chan_memb=PU(33.0=89.9)
C2:
PF0253517=Zip=PD(45.5=80.0),PF0293211=Neur_chan_memb=FE(50.0=100),PF119333=DUF3451=PU(31.1=73.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTTGATACCTTCAGTTGGGCT
R:
CCTCCTGATGCTGTCCTCAGA
Band lengths:
296-503
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains