HsaEX6063272 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128617987-128621256:+
Coord C1 exon
chr9:128617987-128618108
Coord A exon
chr9:128618871-128619003
Coord C2 exon
chr9:128621158-128621256
Length
133 bp
Sequences
Splice sites
3' ss Seq
TTCCTGTCTCCTGTAATTAGGGG
3' ss Score
8.42
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GGTGTCCTGGACACTGGCAAGAAGCTGTCCGATGACAACACCATCGGGAAAGAGGAGATCCAGCAGCGGCTGGCGCAGTTTGTGGAGCACTGGAAAGAGCTGAAGCAGCTGGCAGCTGCCCG
Seq A exon
GGGTCAGCGGCTGGAAGAGTCCTTGGAATATCAGCAGTTTGTAGCCAATGTGGAAGAGGAAGAAGCCTGGATCAATGAGAAAATGACCCTGGTGGCCAGCGAAGATTATGGCGACACTCTTGCCGCCATCCAG
Seq C2 exon
GGCTTACTGAAGAAACATGAAGCTTTTGAGACAGACTTCACCGTCCACAAGGATCGCGTGAATGATGTCTGCACCAATGGACAAGACCTCATTAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'104-98,'104-93,105-98=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=0.171 A=0.000 C2=0.242
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(38.1=100)
A:
PF0043516=Spectrin=PD(5.7=13.3),PF0043516=Spectrin=PU(34.3=80.0)
C2:
PF0043516=Spectrin=FE(30.5=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:
TGTCCTGGACACTGGCAAGAA
R:
TTCTTAATGAGGTCTTGTCCATTGGT
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