HsaEX6034265 @ hg19
Exon Skipping
Gene
ENSG00000163554 | SPTA1
Description
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]
Coordinates
chr1:158597415-158605824:-
Coord C1 exon
chr1:158605703-158605824
Coord A exon
chr1:158604333-158604465
Coord C2 exon
chr1:158597415-158597513
Length
133 bp
Sequences
Splice sites
3' ss Seq
GGCTTGCCACCTTGTTATAGAGG
3' ss Score
4.57
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
AATGTGCTGGATATGGCAGAGAAGCTGAAAGACAAGGCTGCTGTGGGGCAAGAGGAGATCCAGTTGCGGCTGGCTCAGTTTGTTGAACACTGGGAGAAGCTCAAAGAGTTGGCCAAGGCCCG
Seq A exon
AGGACTTAAGTTGGAAGAATCCCTAGAATACTTGCAATTCATGCAGAATGCTGAGGAAGAGGAAGCTTGGATCAATGAAAAGAATGCTTTGGCTGTCCGAGGAGATTGTGGAGATACATTAGCTGCTACTCAG
Seq C2 exon
AGCTTGCTAATGAAGCATGAAGCTTTGGAAAATGACTTTGCTGTCCATGAGACCCGAGTACAAAATGTGTGTGCACAAGGAGAAGACATCCTAAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554-'42-42,'42-40,43-42=AN
Average complexity
A_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(38.1=100)
A:
PF0043516=Spectrin=PD(5.7=13.3),PF0043516=Spectrin=PU(33.3=80.0)
C2:
PF0043516=Spectrin=FE(29.6=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:
AATGTGCTGGATATGGCAGAGA
R:
ATTTAGGATGTCTTCTCCTTGTGCA
Band lengths:
218-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)