HsaEX0004129 @ hg38
Exon Skipping
Gene
ENSG00000145362 | ANK2
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:113277837-113282872:+
Coord C1 exon
chr4:113277837-113277935
Coord A exon
chr4:113278460-113278558
Coord C2 exon
chr4:113282675-113282872
Length
99 bp
Sequences
Splice sites
3' ss Seq
CTTAAACACACCCTTTACAGAAC
3' ss Score
5.81
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
AAGGGTTTTACTCCCCTGCATGTAGCAGCCAAGTATGGAAGCCTGGATGTGGCAAAACTTCTCTTGCAACGCCGTGCTGCCGCAGATTCTGCAGGGAAG
Seq A exon
AACGGCCTTACCCCGCTCCATGTTGCTGCTCATTATGACAACCAGAAGGTGGCGCTGCTGTTACTGGAGAAGGGTGCTTCCCCTCATGCCACTGCCAAG
Seq C2 exon
AATGGCTATACTCCGTTACATATTGCTGCCAAGAAGAATCAAATGCAGATAGCTTCCACACTCCTGAACTATGGAGCAGAGACAAACATTGTGACAAAGCAAGGAGTAACTCCACTCCATCTGGCCTCGCAGGAGGGGCACACAGATATGGTTACCTTGCTTCTGGATAAGGGAGCCAATATCCACATGTCAACTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.091 C2=0.087
Domain overlap (PFAM):
C1:
PF127962=Ank_2=FE(43.2=100)
A:
PF127962=Ank_2=PD(43.1=93.9),PF127962=Ank_2=PU(7.0=15.2)
C2:
PF127962=Ank_2=PD(0.1=0.0),PF127962=Ank_2=PD(91.4=97.0)
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:
AAACTTCTCTTGCAACGCCGT
R:
GAGGCCAGATGGAGTGGAGTT
Band lengths:
173-272
Functional annotations
There are 1 annotated functions for this event
PMID: 17178715
Exon 17 (HsaEX0004129) encodes ankyrin repeat 18 of ankyrin-B. Direct Interaction between Ankyrin-B and Na/Ca Exchanger 1 Requires beta-Hairpin Loop Tips of ankyrin Repeats 16-18, and therefore it is expected to be affected by skipping. The function of the isoforms of HsaEX0004129 have not been examined individually.
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