HsaEX6063275 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128613381-128617760:+
Coord C1 exon
chr9:128613381-128613485
Coord A exon
chr9:128615632-128615840
Coord C2 exon
chr9:128617640-128617760
Length
209 bp
Sequences
Splice sites
3' ss Seq
TCTTATGTCCCCTGCCCCAGGAT
3' ss Score
8.62
5' ss Seq
CAAGTATGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
GTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAG
Seq A exon
GATCGCCTGAAGGACCTGAACAGCCAGGCAGACAGCCTGATGACCAGCAGTGCCTTCGACACCTCCCAAGTAAAGGACAAGAGGGACACCATCAACGGGCGCTTCCAGAAGATCAAGAGCATGGCGGCCTCCCGGCGAGCCAAGCTGAATGAATCCCATCGCCTGCACCAGTTCTTCCGGGACATGGATGACGAGGAGTCCTGGATCAA
Seq C2 exon
GGAGAAGAAGCTGCTGGTGGGCTCAGAGGACTACGGCCGGGACCTAACCGGCGTGCAGAACCTGAGGAAGAAGCACAAGCGGCTGGAAGCAGAACTGGCTGCGCATGAGCCGGCTATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'97-91,'97-90,102-91=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=0.114 C2=0.073
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(32.4=100)
A:
PF0043516=Spectrin=PD(47.6=71.4),PF0043516=Spectrin=PU(16.2=24.3)
C2:
PF0043516=Spectrin=FE(38.1=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:
CCTGCTGGCATCCGAAGATTA
R:
CTGAATAGCCGGCTCATGCG
Band lengths:
218-427
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains