HsaEX6055198 @ hg38
Exon Skipping
Gene
ENSG00000168356 | SCN11A
Description
sodium voltage-gated channel alpha subunit 11 [Source:HGNC Symbol;Acc:HGNC:10583]
Coordinates
chr3:38886125-38900073:-
Coord C1 exon
chr3:38899894-38900073
Coord A exon
chr3:38894533-38894964
Coord C2 exon
chr3:38886125-38886238
Length
432 bp
Sequences
Splice sites
3' ss Seq
GCTACCCACCCCATTCCCAGGTG
3' ss Score
6.93
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
GTTTTCACTAGCATTTTTATAGCAGAAATGTGCCTAAAAATCATTGCGCTCGATCCCTACCACTACTTTCGCCGAGGCTGGAACATTTTTGACAGCATTGTTGCTCTTCTGAGTTTTGCAGATGTAATGAACTGTGTACTTCAAAAGAGAAGCTGGCCATTCTTGCGTTCCTTCAGAGTG
Seq A exon
GTGCTCAACCTCTTCATTGCCTTACTGCTCAATTCCTTTAGCAATGAGGAAAGAAATGGAAACTTAGAAGGAGAGGCCAGGAAAACTAAAGTCCAGTTAGCACTGGATCGATTCCGCCGGGCTTTTTGTTTTGTGAGACACACTCTTGAGCATTTCTGTCACAAGTGGTGCAGGAAGCAAAACTTACCACAGCAAAAAGAGGTGGCAGGAGGCTGTGCTGCACAAAGCAAAGACATCATTCCCCTGGTCATGGAGATGAAAAGGGGCTCAGAGACCCAGGAGGAGCTTGGTATACTAACCTCTGTACCAAAGACCCTGGGCGTCAGGCATGATTGGACTTGGTTGGCACCACTTGCGGAGGAGGAAGATGACGTTGAATTTTCTGGTGAAGATAATGCACAGCGCATCACACAACCTGAGCCTGAACAACAG
Seq C2 exon
GCCTATGAGCTCCATCAGGAGAACAAGAAGCCCACGAGCCAGAGAGTTCAAAGTGTGGAAATTGACATGTTCTCTGAAGATGAGCCTCATCTGACCATACAGGATCCCCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168356_MULTIEX1-2/3=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.160 C2=0.605
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(29.5=100)
A:
PF0052026=Ion_trans=PD(4.0=5.6),PF065128=Na_trans_assoc=PU(49.4=82.6)
C2:
PF065128=Na_trans_assoc=FE(15.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGCATTTTTATAGCAGAAATGTGCC
R:
CTTTCGGGGATCCTGTATGGT
Band lengths:
286-718
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains