HsaEX0004151 @ hg38
Exon Skipping
Gene
ENSG00000151150 | ANK3
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60042672-60051561:-
Coord C1 exon
chr10:60051475-60051561
Coord A exon
chr10:60044265-60044348
Coord C2 exon
chr10:60042672-60042759
Length
84 bp
Sequences
Splice sites
3' ss Seq
CTTTATGCCACATCCTTTAGGGA
3' ss Score
7.32
5' ss Seq
AAAGTAATC
5' ss Score
0.63
Exon sequences
Seq C1 exon
GACTTGAAAGACAGTGAGAGTGATTCAAGCTCAGAGGAAGAGCGGAGAGTCACTACCCGAGTTATTCGCCGGCGTTTGATTATAAAG
Seq A exon
GGAGAGGAAGCAAAAAACATTCCTGGTGAATCTGTCACAGAAGAACAATTTACTGATGAAGAAGGCAACCTCATCACCAGAAAA
Seq C2 exon
CAGGGAGAAGGTTTTAAGGTGAAAACGAAGAAAGAAATCCGGCATGTGGAAAAGAAGAGCCACTCGTAACAGCGAACGGTCAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-26/27=25-C2
Average complexity
C3
Mappability confidence:
97%=97=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.850 A=0.828 C2=0.963
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000280772fB9309
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACAGTGAGAGTGATTCAAGCT
R:
CTTGACTGACCGTTCGCTGTT
Band lengths:
167-251
Functional annotations
There are 1 annotated functions for this event
PMID: 21223964
Ankyrins-G coimmunoprecipitated with plectin and filamin C from skeletal muscle tissue extracts. Muscle-specific OTBD domain (coordinated inclusion of MmuEX1003810, MmuEX1003809, MmuEX0004908) is required for ankyrin-G binding to plectin and filamin C. Isoforms are differentially expressed during myogenesis.
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