HsaEX0061547 @ hg19
Exon Skipping
Gene
ENSG00000163554 | SPTA1
Description
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]
Coordinates
chr1:158606431-158609476:-
Coord C1 exon
chr1:158609372-158609476
Coord A exon
chr1:158607823-158608031
Coord C2 exon
chr1:158606431-158606551
Length
209 bp
Sequences
Splice sites
3' ss Seq
AGTATCCCGAGACTTTCTAGGAT
3' ss Score
-0.14
5' ss Seq
AGAGTATGT
5' ss Score
5.66
Exon sequences
Seq C1 exon
GCAGAGACATTGCTGGCCATGAAAGATCAGGCCAGGGACTTGGCTTCAGCAGGAAACCTACTCAAGAAGCATCAGCTATTGGAGAGAGAGATGTTGGCTCGAGAG
Seq A exon
GATGCACTCAAGGACCTGAATACATTGGCTGAAGATTTGCTCTCCAGCGGGACTTTCAACGTTGATCAGATTGTGAAGAAAAAAGATAATGTCAACAAGCGTTTCCTGAATGTCCAAGAATTGGCAGCTGCACACCACGAAAAATTGAAAGAGGCCTATGCCTTGTTCCAGTTCTTCCAGGATCTAGATGATGAGGAATCCTGGATAGA
Seq C2 exon
GGAGAAGTTGATACGAGTGAGCTCCCAGGACTATGGGAGAGATCTTCAGGGGGTTCAGAACTTGCTGAAGAAGCACAAACGCCTAGAGGGGGAGCTGGTGGCCCATGAGCCTGCCATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(32.4=100)
A:
PF0043516=Spectrin=PD(47.6=71.4),PF0043516=Spectrin=PU(16.2=24.3)
C2:
PF0043516=Spectrin=FE(38.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAGACATTGCTGGCCATGA
R:
CTGGATGGCAGGCTCATGG
Band lengths:
225-434
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)