HsaEX0061545 @ hg19
Exon Skipping
Gene
ENSG00000163554 | SPTA1
Description
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]
Coordinates
chr1:158619646-158621258:-
Coord C1 exon
chr1:158621157-158621258
Coord A exon
chr1:158620347-158620476
Coord C2 exon
chr1:158619646-158619737
Length
130 bp
Sequences
Splice sites
3' ss Seq
TCTTTCACTGTCACACACAGAAG
3' ss Score
5.72
5' ss Seq
TAGGTCAGT
5' ss Score
6.39
Exon sequences
Seq C1 exon
GATTTGAATACCAATGAGCCTCGGCTAAGGGATATCAACAAGGTAGCTGATGATCTACTATTTGAAGGACTTCTAACACCAGAAGGAGCTCAAATCCGGCAG
Seq A exon
AAGAAATTCTCAATTACATGAATTCAAAGACAATGCAGATAAAGAAGCTATGATAGTGGGAAGAGGTTGATCAAGAAAGTTTACTGGAAGACACAGATTCTGATCAACGTGCTGAAGAAGGAGAATATAG
Seq C2 exon
GAATTGAATTCCCGCTGGGGTTCTTTGCAGAGGCTTGCAGATGAACAGCGGCAGCTGCTGGGCAGTGCCCATGCTGTTGAAGTGTTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554-'26-25,'26-24,27-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=0.000 C2=0.032
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(33.0=100)
A:
PF0043516=Spectrin=PD(4.8=57.1)
C2:
PF0043516=Spectrin=PD(21.0=67.7),PF0043516=Spectrin=PU(6.7=22.6)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATTTGAATACCAATGAGCCTCGG
R:
CTGTGAAACACTTCAACAGCATGG
Band lengths:
194-324
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)