HsaEX0004132 @ hg38
Exon Skipping
Gene
ENSG00000145362 | ANK2
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:113330246-113333208:+
Coord C1 exon
chr4:113330246-113330470
Coord A exon
chr4:113331972-113332070
Coord C2 exon
chr4:113333054-113333208
Length
99 bp
Sequences
Splice sites
3' ss Seq
GCTGCTTTGGATGTACTCAGTAA
3' ss Score
2.33
5' ss Seq
TGGGTAGGA
5' ss Score
5.12
Exon sequences
Seq C1 exon
TTTCCTGGTTAGTTTTATGGTGGATGCCCGAGGTGGTGCTATGCGAGGATGCAGACACAATGGGCTCCGAATCATTATTCCACCTCGGAAATGTACTGCTCCAACGCGAGTCACCTGCCGACTGGTCAAGCGCCACAGACTGGCAACAATGCCTCCAATGGTGGAAGGAGAAGGCCTGGCCAGTCGCCTGATCGAAGTTGGACCTTCTGGTGCTCAGTTCCTTGG
Seq A exon
TAAACTTCACCTGCCAACGGCTCCTCCCCCACTTAATGAGGGAGAAAGTTTGGTCAGCCGCATTCTTCAGCTGGGGCCTCCTGGAACCAAATTCCTTGG
Seq C2 exon
GCCTGTGATCGTGGAGATCCCTCACTTTGCGGCCCTTCGAGGAAAGGAAAGGGAACTGGTGGTCCTGCGCAGTGAGAATGGGGACAGCTGGAAAGAGCATTTCTGTGACTACACTGAAGATGAATTGAATGAAATTCTTAACGGCATGGATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_CASSETTE9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.013 A=0.173 C2=0.031
Domain overlap (PFAM):
C1:
PF0079115=ZU5=FE(89.3=100),PF0079115=ZU5=PU(0.1=0.0)
A:
PF0079115=ZU5=PD(8.3=20.6),PF0079115=ZU5=PU(53.2=97.1)
C2:
PF0079115=ZU5=PD(26.7=52.8)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATGTACTGCTCCAACGCGAG
R:
CGCAAAGTGAGGGATCTCCAC
Band lengths:
167-266
Functional annotations
There are 1 annotated functions for this event
PMID: 22749401
Inclusion enhances interaction with EPB4L2, DCTN4, SCN1B, SLC8A1, DNAJB1, CDH1, ATP1A1, SPNA2. By LUMIER.
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