Special

HsaEX6088524 @ hg19

Exon Skipping

Gene
Description
ankyrin 3, node of Ranvier (ankyrin G) [Source:HGNC Symbol;Acc:494]
Coordinates
chr10:61868588-61894131:-
Coord C1 exon
chr10:61894029-61894131
Coord A exon
chr10:61873983-61874089
Coord C2 exon
chr10:61868588-61868812
Length
107 bp
Sequences
Splice sites
3' ss Seq
TTTACCATTTTATTTTTCAGCAT
3' ss Score
9.91
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
CCTCCGCTCCTTCAGTTCGGATAGGTCTTACACCTTGAACAGAAGCTCCTATGCACGGGACAGCATGATGATTGAAGAACTCCTTGTGCCATCCAAAGAGCAG
Seq A exon
CATCTAACATTCACAAGGGAATTTGATTCAGATTCTCTTAGACATTACAGCTGGGCTGCAGACACCTTAGACAATGTCAATCTTGTTTCAAGCCCCATTCATTCTGG
Seq C2 exon
GTTTCTGGTTAGCTTTATGGTGGACGCGAGAGGGGGCTCCATGAGAGGAAGCCGTCATCACGGGATGAGAATCATCATTCCTCCACGCAAGTGTACGGCCCCCACTCGAATCACCTGCCGTTTGGTAAAGAGACATAAACTGGCCAACCCACCCCCCATGGTGGAAGGAGAGGGATTAGCCAGTAGGCTGGTAGAAATGGGTCCTGCAGGGGCACAATTTTTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150-'38-48,'38-45,39-48=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.009 A=0.018 C2=0.210
Domain overlap (PFAM):

C1:
NO
A:
PF0079115=ZU5=PU(1.0=2.8)
C2:
PF0079115=ZU5=FE(71.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCACGGGACAGCATGATGATT
R:
GCAGGACCCATTTCTACCAGC
Band lengths:
258-365
Functional annotations
There are 1 annotated functions for this event
PMID: 26024478
The paper describes and annotates all exons to an extreme detail. Wild-type isoform, but not the variants (either skipping 31 or 28-31), bind beta-spectrin. Exon 28 (MmuEX0004926), exon 29 (MmuEX6048924), exon 31 (MmuEX6048923)


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains