HsaEX0004144 @ hg38
Exon Skipping
Gene
ENSG00000151150 | ANK3
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60108830-60114331:-
Coord C1 exon
chr10:60114225-60114331
Coord A exon
chr10:60111734-60111766
Coord C2 exon
chr10:60108830-60109054
Length
33 bp
Sequences
Splice sites
3' ss Seq
CTTTCTAAATTATTTTGCAGCTA
3' ss Score
8.84
5' ss Seq
AAGGTGATA
5' ss Score
4.18
Exon sequences
Seq C1 exon
CATCTAACATTCACAAGGGAATTTGATTCAGATTCTCTTAGACATTACAGCTGGGCTGCAGACACCTTAGACAATGTCAATCTTGTTTCAAGCCCCATTCATTCTGG
Seq A exon
CTATTCTTCTCCACTTCCTCAGTATGATTCAAG
Seq C2 exon
GTTTCTGGTTAGCTTTATGGTGGACGCGAGAGGGGGCTCCATGAGAGGAAGCCGTCATCACGGGATGAGAATCATCATTCCTCCACGCAAGTGTACGGCCCCCACTCGAATCACCTGCCGTTTGGTAAAGAGACATAAACTGGCCAACCCACCCCCCATGGTGGAAGGAGAGGGATTAGCCAGTAGGCTGGTAGAAATGGGTCCTGCAGGGGCACAATTTTTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-4/27=3-5
Average complexity
S
Mappability confidence:
99%=75=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.010 A=0.000 C2=0.217
Domain overlap (PFAM):
C1:
PF0079115=ZU5=PU(1.2=12.5)
A:
PF0079115=ZU5=PU(1.3=8.3)
C2:
PF0079115=ZU5=PU(71.2=98.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGCAGACACCTTAGACAA
R:
ATGACGGCTTCCTCTCATGGA
Band lengths:
112-145
Functional annotations
There are 2 annotated functions for this event
PMID: 22749401
Inclusion decreases interaction with ATP1A1 and CDH1, but not KCNQ2. By LUMIER.
PMID: 29398366
The axon initial segment (AIS), a subcellular structure important for action potential initiation, is diminished upon Rbfox depletion. An Rbfox-regulated splicing switch in ankyrin G (exclusion/inclusion of HsaEX0004144), the AIS interaction hub protein, regulates ankyrin G-beta spectrin affinity and AIS assembly.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development