HsaEX0004114 @ hg38
Exon Skipping
Gene
ENSG00000029534 | ANK1
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41668267-41684690:-
Coord C1 exon
chr8:41684544-41684690
Coord A exon
chr8:41672354-41672912
Coord C2 exon
chr8:41668267-41668564
Length
559 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGTCTGCCCATCCAGGTT
3' ss Score
10.83
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
TGGAGAATCTGTACACAGCCCTGCAGAGCATTGACCGTGGCGAGATCGTGAACATGCTGGAGGGTTCCGGCCGACAGAGCCGCAACTTGAAGCCAGACAGGCGGCACACCGACCGCGACTACTCGCTGTCACCCTCCCAGATGAATG
Seq A exon
GTTACTCCTCACTGCAGGACGAGCTGCTGTCCCCTGCCTCCCTGGGCTGTGCACTTTCCTCTCCGCTACGTGCAGACCAGTACTGGAATGAGGTGGCCGTCCTAGACGCCATCCCCTTGGCGGCCACGGAGCATGACACCATGCTGGAGATGTCTGACATGCAGGTGTGGTCTGCGGGCCTCACGCCTTCTCTGGTCACTGCTGAGGACTCCTCTCTGGAGTGTAGCAAGGCTGAGGACTCTGATGCCACAGGTCACGAGTGGAAGTTGGAGGGGGCACTCTCAGAGGAACCGCGGGGCCCCGAGTTGGGCTCTCTGGAACTTGTGGAGGACGACACAGTGGATTCAGATGCCACAAATGGCCTTATCGATTTGCTTGAACAGGAGGAAGGTCAGAGGTCAGAAGAGAAGCTGCCAGGTTCTAAGAGGCAGGATGACGCGACAGGTGCAGGGCAGGACTCAGAGAATGAAGTGTCTCTTGTTTCAGGCCATCAGAGGGGGCAAGCCCGAATCACACATTCCCCCACCGTGAGTCAGGTGACGGAGAGGAGTCAGGACAG
Seq C2 exon
ACTGCAGGACTGGGATGCAGACGGCTCGATTGTCTCATACCTGCAAGATGCTGCACAAGGTTCCTGGCAAGAGGAGGTCACGCAAGGTCCACACTCATTCCAGGGAACAAGTACCATGACTGAAGGGCTAGAGCCCGGTGGATCTCAGGAGTACGAGAAGGTCCTGGTGTCTGTAAGTGAGCACACGTGGACAGAACAGCCCGAGGCTGAGAGCTCCCAGGCCGACAGGGACCGGAGGCAGCAAGGCCAAGAAGAGCAGGTGCAGGAGGCCAAGAACACCTTCACCCAAGTGGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534-'62-80,'62-73,69-80
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.599 A=0.718 C2=0.988
Domain overlap (PFAM):
C1:
PF0053117=Death=PD(27.4=46.0)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
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:
CGCAACTTGAAGCCAGACAGG
R:
TTGGGTGAAGGTGTTCTTGGC
Band lengths:
356-915
Functional annotations
There are 1 annotated functions for this event
PMID: 1388161
Skipping (probably more as an ALTA) exhibits increased affinity for the cytoplasmic domain of the anion exchanger, spectrin, and tubulin.
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