HsaEX0004114 @ hg19
Exon Skipping
Gene
ENSG00000029534 | ANK1
Description
ankyrin 1, erythrocytic [Source:HGNC Symbol;Acc:492]
Coordinates
chr8:41525785-41542208:-
Coord C1 exon
chr8:41542062-41542208
Coord A exon
chr8:41529872-41530430
Coord C2 exon
chr8:41525785-41526082
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-'41-51,'41-46,45-51
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.609 A=0.719 C2=0.987
Domain overlap (PFAM):
C1:
PF0053117=Death=PD(27.4=46.0)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
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:
CGCAACTTGAAGCCAGACAGG
R:
TTGGGTGAAGGTGTTCTTGGC
Band lengths:
356-915
Functional annotations
There are 1 annotated functions for this event
PMID: 1388161
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)