HsaEX0004130 @ hg38
Exon Skipping
Gene
ENSG00000145362 | ANK2
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:113288388-113293538:+
Coord C1 exon
chr4:113288388-113288486
Coord A exon
chr4:113292416-113292514
Coord C2 exon
chr4:113293440-113293538
Length
99 bp
Sequences
Splice sites
3' ss Seq
GCCACCACTGTCCTCCACAGAAC
3' ss Score
8.51
5' ss Seq
GCGGTAAGG
5' ss Score
9.63
Exon sequences
Seq C1 exon
CTTGGTTACACACCTTTAATTGTGGCCTGTCACTATGGAAATGTGAAAATGGTCAACTTTCTTCTGAAGCAGGGAGCAAATGTTAACGCAAAAACCAAG
Seq A exon
AACGGCTACACGCCTTTGCACCAGGCCGCTCAGCAGGGTCACACGCACATCATCAACGTCCTGCTCCAGCATGGGGCCAAGCCCAACGCCACCACTGCG
Seq C2 exon
AATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_CASSETTE5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=0.394 C2=0.129
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PD(44.9=93.9),PF127962=Ank_2=PU(6.0=12.1)
A:
PF127962=Ank_2=PD(32.6=90.9)
C2:
PF127962=Ank_2=PD(41.8=84.8)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGGCCTGTCACTATGGAAA
R:
TGGTGACCTCCTCAGTCACAA
Band lengths:
167-266
Functional annotations
There are 1 annotated functions for this event
PMID: 14722080
Exon 21 (HsaEX0004130) encodes ankyrin repeat 23. InsP3R-Ankyrin-B Interaction Requires Tips of beta-Hairpin Loops of ANK Repeats 22-24, and therefore it is expected to be affected by skipping. The function of Hsa0004130 has not been examined in isolation.
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