HsaEX0061546 @ hg19
Exon Skipping
Gene
ENSG00000163554 | SPTA1
Description
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]
Coordinates
chr1:158587327-158589124:-
Coord C1 exon
chr1:158589012-158589124
Coord A exon
chr1:158587829-158587846
Coord C2 exon
chr1:158587327-158587378
Length
18 bp
Sequences
Splice sites
3' ss Seq
TTCCGGACCTCCATGTCCAGGGC
3' ss Score
6.13
5' ss Seq
TGGGTCAGT
5' ss Score
4.68
Exon sequences
Seq C1 exon
GAACGGGAGCAGGAGCTGCAAAAGGAAGAGGCAAGACAGGTCAAGAACTTTGAGATGTGTCAGGAGTTTGAACAGAATGCCAGTACCTTCCTTCAATGGATCCTGGAAACCAG
Seq A exon
GGCTTACTTTCTGGATGG
Seq C2 exon
ATCATTGCTCAAAGAAACAGGAACTCTGGAATCTCAGCTGGAAGCAAATAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554_CASSETTE1
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=0.000 C2=0.056
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(6.7=18.4),PF0043516=Spectrin=PU(19.6=52.6)
A:
PF0043516=Spectrin=FE(5.9=100)
C2:
PF0043516=Spectrin=FE(16.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGGAGTTTGAACAGAATGCC
R:
TTGCTTCCAGCTGAGATTCCA
Band lengths:
102-120
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)