HsaEX6088524 @ hg38
Exon Skipping
Gene
ENSG00000151150 | ANK3
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60042672-60139087:-
Coord C1 exon
chr10:60138964-60139087
Coord A exon
chr10:60114225-60114331
Coord C2 exon
chr10:60042672-60042759
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
GTGAAGATGCAATGACCGGGGACACAGACAAATATCTTGGGCCACAGGACCTTAAGGAATTGGGTGATGATTCCCTGCCTGCAGAGGGTTACATGGGCTTTAGTCTCGGAGCGCGTTCTGCCAG
Seq A exon
CATCTAACATTCACAAGGGAATTTGATTCAGATTCTCTTAGACATTACAGCTGGGCTGCAGACACCTTAGACAATGTCAATCTTGTTTCAAGCCCCATTCATTCTGG
Seq C2 exon
CAGGGAGAAGGTTTTAAGGTGAAAACGAAGAAAGAAATCCGGCATGTGGAAAAGAAGAGCCACTCGTAACAGCGAACGGTCAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-3/27=C1-C2
Average complexity
C3
Mappability confidence:
98%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.458 A=0.010 C2=0.963
Domain overlap (PFAM):
C1:
NO
A:
PF0079115=ZU5=PU(1.0=2.8)
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGATGCAATGACCGGGGAC
R:
CTTGACTGACCGTTCGCTGTT
Band lengths:
210-317
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