HsaEX6088523 @ hg38
Exon Skipping
Gene
ENSG00000151150 | ANK3
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60055658-60139087:-
Coord C1 exon
chr10:60138964-60139087
Coord A exon
chr10:60134271-60134373
Coord C2 exon
chr10:60055658-60056036
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
CCCTGACCAGTGTAGAGATTCCATTACCTCATATCTCAAAGGAGAAGCTGGCAAATTTGAAGCAAATGGAAGCCATACAGAAATCACTCCAGAAGCAAAGACAAAATCTTACTTTCCAGAATCCCAAAATGATGTAGGAAAACAGAGTACCAAGGAAACTCTGAAACCAAAAATACATGGATCTGGTCATGTTGAAGAACCAGCATCACCACTAGCAGCATATCAGAAATCTCTAGAAGAAACCAGCAAGCTTATAATAGAAGAGACTAAACCCTGTGTGCCTGTCAGTATGAAAAAGATGAGTAGGACTTCTCCAGCAGATGGCAAGCCAAGGCTTAGCCTCCATGAAGAAGAGGGGTCCAGTGGGTCTGAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-2/27=C1-23
Average complexity
C3*
Mappability confidence:
97%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.458 A=0.013 C2=0.927
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGGGCTTTAGTCTCGGAGC
R:
ATGCTGCTAGTGGTGATGCTG
Band lengths:
254-357
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