Special

HsaEX6088525 @ hg38

Exon Skipping

Gene
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60042672-60139087:-
Coord C1 exon
chr10:60138964-60139087
Coord A exon
chr10:60108830-60109054
Coord C2 exon
chr10:60042672-60042759
Length
225 bp
Sequences
Splice sites
3' ss Seq
CTCTGATCTTCTCCCCTCAGGTT
3' ss Score
11.53
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GTGAAGATGCAATGACCGGGGACACAGACAAATATCTTGGGCCACAGGACCTTAAGGAATTGGGTGATGATTCCCTGCCTGCAGAGGGTTACATGGGCTTTAGTCTCGGAGCGCGTTCTGCCAG
Seq A exon
GTTTCTGGTTAGCTTTATGGTGGACGCGAGAGGGGGCTCCATGAGAGGAAGCCGTCATCACGGGATGAGAATCATCATTCCTCCACGCAAGTGTACGGCCCCCACTCGAATCACCTGCCGTTTGGTAAAGAGACATAAACTGGCCAACCCACCCCCCATGGTGGAAGGAGAGGGATTAGCCAGTAGGCTGGTAGAAATGGGTCCTGCAGGGGCACAATTTTTAGG
Seq C2 exon
CAGGGAGAAGGTTTTAAGGTGAAAACGAAGAAAGAAATCCGGCATGTGGAAAAGAAGAGCCACTCGTAACAGCGAACGGTCAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-5/27=C1-C2
Average complexity
C3
Mappability confidence:
99%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.458 A=0.217 C2=0.963
Domain overlap (PFAM):

C1:
NO
A:
PF0079115=ZU5=PU(71.2=98.7)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAAGATGCAATGACCGGGG
R:
CTTGACTGACCGTTCGCTGTT
Band lengths:
212-437
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