Special

HsaEX6088523 @ hg19

Exon Skipping

Gene
Description
ankyrin 3, node of Ranvier (ankyrin G) [Source:HGNC Symbol;Acc:494]
Coordinates
chr10:61873983-61898845:-
Coord C1 exon
chr10:61898722-61898845
Coord A exon
chr10:61894029-61894131
Coord C2 exon
chr10:61873983-61874089
Length
103 bp
Sequences
Splice sites
3' ss Seq
GTTAACTGTAAATACAACAGCCT
3' ss Score
0.83
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
GTGAAGATGCAATGACCGGGGACACAGACAAATATCTTGGGCCACAGGACCTTAAGGAATTGGGTGATGATTCCCTGCCTGCAGAGGGTTACATGGGCTTTAGTCTCGGAGCGCGTTCTGCCAG
Seq A exon
CCTCCGCTCCTTCAGTTCGGATAGGTCTTACACCTTGAACAGAAGCTCCTATGCACGGGACAGCATGATGATTGAAGAACTCCTTGTGCCATCCAAAGAGCAG
Seq C2 exon
CATCTAACATTCACAAGGGAATTTGATTCAGATTCTCTTAGACATTACAGCTGGGCTGCAGACACCTTAGACAATGTCAATCTTGTTTCAAGCCCCATTCATTCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150-'36-45,'36-42,38-45=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=0.458 A=0.009 C2=0.018
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0079115=ZU5=PU(1.2=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGATGCAATGACCGGGGAC
R:
CCAGAATGAATGGGGCTTGAA
Band lengths:
229-332
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