HsaEX6063294 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128584721-128587698:+
Coord C1 exon
chr9:128584721-128584843
Coord A exon
chr9:128585748-128585965
Coord C2 exon
chr9:128587606-128587698
Length
218 bp
Sequences
Splice sites
3' ss Seq
TTTCCCTACCCATCTTCCAGGCC
3' ss Score
10.73
5' ss Seq
GAGGTAACC
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTAAGGATTTAATTGGGGTCCAGAATCTGCTAAAGAAACATCAAGCCTTACAAGCAGAAATTGCTGGACATGAACCACGCATCAAAGCAGTTACACAGAAGGGGAATGCCATGGTGGAGGAAG
Seq A exon
GCCATTTTGCTGCAGAGGATGTGAAGGCCAAGCTTCACGAGCTGAACCAAAAGTGGGAGGCACTGAAAGCCAAAGCTTCCCAGCGTCGGCAGGACCTGGAGGACTCTCTGCAGGCCCAGCAGTACTTTGCTGATGCTAACGAGGCTGAATCCTGGATGCGGGAGAAGGAACCCATTGTGGGCAGCACTGACTATGGCAAGGACGAAGACTCTGCTGAG
Seq C2 exon
GCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'49-41,'49-37,50-41=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=0.472 A=0.423 C2=0.188
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(39.0=100)
A:
PF0043516=Spectrin=PD(32.4=46.6),PF0043516=Spectrin=PU(42.9=49.3)
C2:
PF139001=GVQW=PD(7.3=9.7),PF0043516=Spectrin=FE(51.7=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:
AAGGATTTAATTGGGGTCCAGA
R:
GGCAGGACTGTGCTTGTTCTC
Band lengths:
212-430
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains