Special

HsaEX6055198 @ hg19

Exon Skipping

Gene
ENSG00000168356 | SCN11A
Description
sodium channel, voltage-gated, type XI, alpha subunit [Source:HGNC Symbol;Acc:10583]
Coordinates
chr3:38927616-38938716:-
Coord C1 exon
chr3:38938336-38938716
Coord A exon
chr3:38936024-38936455
Coord C2 exon
chr3:38927616-38927729
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
CTCAGGGTCTTCAAGTTAGCCAAATCCTGGCCAACTTTGAACACACTAATTAAGATAATCGGCAACTCTGTCGGAGCCCTTGGAAGCCTGACTGTGGTCCTGGTCATTGTGATCTTTATTTTCTCAGTAGTTGGCATGCAGCTTTTTGGCCGTAGCTTCAATTCCCAAAAGAGTCCAAAACTCTGTAACCCGACAGGCCCGACAGTCTCATGTTTACGGCACTGGCACATGGGGGATTTCTGGCACTCCTTCCTAGTGGTATTCCGCATCCTCTGCGGGGAATGGATCGAAAATATGTGGGAATGTATGCAAGAAGCGAATGCATCATCATCATTGTGTGTTATTGTCTTCATATTGATCACGGTGATAGGAAAACTTGTG
Seq A exon
GTGCTCAACCTCTTCATTGCCTTACTGCTCAATTCCTTTAGCAATGAGGAAAGAAATGGAAACTTAGAAGGAGAGGCCAGGAAAACTAAAGTCCAGTTAGCACTGGATCGATTCCGCCGGGCTTTTTGTTTTGTGAGACACACTCTTGAGCATTTCTGTCACAAGTGGTGCAGGAAGCAAAACTTACCACAGCAAAAAGAGGTGGCAGGAGGCTGTGCTGCACAAAGCAAAGACATCATTCCCCTGGTCATGGAGATGAAAAGGGGCTCAGAGACCCAGGAGGAGCTTGGTATACTAACCTCTGTACCAAAGACCCTGGGCGTCAGGCATGATTGGACTTGGTTGGCACCACTTGCGGAGGAGGAAGATGACGTTGAATTTTCTGGTGAAGATAATGCACAGCGCATCACACAACCTGAGCCTGAACAACAG
Seq C2 exon
GCCTATGAGCTCCATCAGGAGAACAAGAAGCCCACGAGCCAGAGAGTTCAAAGTGTGGAAATTGACATGTTCTCTGAAGATGAGCCTCATCTGACCATACAGGATCCCCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168356-'14-15,'14-14,15-15=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=0.170 C2=0.605
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(63.0=100),PF054346=Tmemb_9=PU(33.0=27.6)
A:
PF0052026=Ion_trans=PD(4.0=5.6),PF054346=Tmemb_9=PD(65.1=47.9),PF065128=Na_trans_assoc=PU(49.4=82.6)
C2:
PF065128=Na_trans_assoc=FE(15.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCGTAGCTTCAATTCCCAA
R:
CGGGGATCCTGTATGGTCAGA
Band lengths:
344-776
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains