HsaEX6063305 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128577129-128578245:+
Coord C1 exon
chr9:128577129-128577273
Coord A exon
chr9:128577352-128577506
Coord C2 exon
chr9:128578110-128578245
Length
155 bp
Sequences
Splice sites
3' ss Seq
CTGACGGAGTTCATTTCTAGGTC
3' ss Score
3.55
5' ss Seq
CAGGTGCAA
5' ss Score
2.83
Exon sequences
Seq C1 exon
GGATGTGGATGAGACTATCAGTTGGATTAAGGAAAAGGAGCAGTTAATGGCCTCTGATGATTTTGGCCGAGACCTGGCAAGTGTTCAGGCTCTGCTTCGGAAGCACGAGGGTCTGGAGAGAGATCTTGCTGCTCTAGAAGACAAG
Seq A exon
GTCAAAGCCCTGTGTGCTGAGGCTGACCGCCTGCAACAGTCCCACCCTCTGAGTGCAACACAGATTCAAGTGAAGCGAGAGGAACTGATTACAAACTGGGAGCAGATCCGCACCTTGGCGGCAGAGAGACATGCACGGCTCAATGATTCATACAG
Seq C2 exon
GCTTCAACGCTTCCTTGCTGACTTCCGTGACCTCACCAGCTGGGTGACTGAGATGAAAGCCCTCATCAATGCAGATGAGCTTGCCAGTGATGTGGCTGGGGCTGAAGCCCTGCTAGATAGACACCAAGAGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'28-20,'28-19,29-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.038 C2=0.065
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(45.7=100)
A:
PF0043516=Spectrin=PD(45.7=92.3),PF0043516=Spectrin=PU(1.0=1.9)
C2:
PF0043516=Spectrin=FE(42.9=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:
AGGAAAAGGAGCAGTTAATGGCC
R:
TGGTGTCTATCTAGCAGGGCT
Band lengths:
242-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains