HsaEX6063287 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128598963-128603590:+
Coord C1 exon
chr9:128598963-128598986
Coord A exon
chr9:128600080-128600115
Coord C2 exon
chr9:128603543-128603590
Length
36 bp
Sequences
Splice sites
3' ss Seq
ATTCCTCTTTCTTTGAATAGGAT
3' ss Score
10.28
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GAAGTGTATGGCATGATGCCCAGG
Seq A exon
GATGAAACTGATTCCAAGACAGCCTCCCCGTGGAAG
Seq C2 exon
TCTGCTCGTCTGATGGTTCACACCGTGGCCACCTTTAATTCCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'63-60,'63-57,69-60=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.992 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(2.4=25.0)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 9712874
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, cleavage reaction, glutathione s tranferase tag, western blot. ELM ID: ELMI001909; ELM sequence: DETDS; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains