HsaEX6034265 @ hg38
Exon Skipping
Gene
ENSG00000163554 | SPTA1
Description
spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272]
Coordinates
chr1:158626146-158636034:-
Coord C1 exon
chr1:158635913-158636034
Coord A exon
chr1:158634543-158634675
Coord C2 exon
chr1:158626146-158626222
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
CTGATAAGGAAACAAGCCTAAAGACCAATGGCAATGGTGCAGACCTTGGTGACTTCCTCACTCTTCTGGCAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554_MULTIEX2-1/3=C1-C2
Average complexity
C2
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(23.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGGATATGGCAGAGAAGC
R:
TGTTTTGCCAGAAGAGTGAGGA
Band lengths:
194-327
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains