HsaEX6066584 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51765671-51769985:+
Coord C1 exon
chr12:51765671-51766027
Coord A exon
chr12:51768865-51769335
Coord C2 exon
chr12:51769868-51769985
Length
471 bp
Sequences
Splice sites
3' ss Seq
TTCCAATGCTACTGGCATAGGTG
3' ss Score
4.12
5' ss Seq
GATGTAAGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
CTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACCCTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGCTACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCATGACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACCATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTCATGGTGATTGGCAACTTGGTG
Seq A exon
GTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTCAGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCAGTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAGGCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAGAAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAGAAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGATGAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTGGGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAAGGCAGCAAAGAT
Seq C2 exon
AAACTAGATGACACCAGCTCCTCTGAAGGAAGCACCATTGATATCAAACCAGAAGTAGAAGAGGTCCCTGTGGAACAGCCTGAGGAATACTTGGATCCAGATGCCTGCTTCACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'41-39,'41-37,44-39=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=0.223 C2=0.575
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(62.1=100)
A:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(61.0=84.7)
C2:
PF065128=Na_trans_assoc=FE(17.9=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCATCTTTGCCGTGGTGG
R:
GTGAAGCAGGCATCTGGATCC
Band lengths:
358-829
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains