HsaEX6063281 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128607852-128608977:+
Coord C1 exon
chr9:128607852-128608049
Coord A exon
chr9:128608130-128608276
Coord C2 exon
chr9:128608874-128608977
Length
147 bp
Sequences
Splice sites
3' ss Seq
CTGCCTCTTGCCCTCTTTAGCTG
3' ss Score
9.25
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GAACACCGGACAGAAATCGATGCCAGGGCTGGCACTTTCCAGGCATTTGAGCAGTTTGGACAGCAGCTGTTGGCTCACGGACACTATGCCAGCCCTGAGATCAAGCAGAAACTTGATATTCTTGACCAGGAGCGTGCAGACCTGGAGAAGGCCTGGGTTCAGCGCAGGATGATGCTGGATCAGTGCCTTGAACTGCAG
Seq A exon
CTGTTCCATCGGGACTGTGAGCAAGCTGAGAACTGGATGGCTGCCCGGGAGGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACAGCGTAGAGGCTCTGATCAAAAAACATGAAGACTTTGACAAAGCGATTAACGTCCAG
Seq C2 exon
GAAGAGAAGATTGCTGCTCTGCAGGCCTTTGCCGACCAGCTCATCGCTGCCGGCCATTATGCCAAGGGAGACATTTCTAGCCGGCGCAATGAGGTCTTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'83-75,'83-74,85-75=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=0.061 A=0.020 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(57.1=90.9),PF0043516=Spectrin=PU(2.9=4.5)
A:
PF0043516=Spectrin=FE(45.7=100)
C2:
PF0043516=Spectrin=FE(32.4=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:
TGGCACTTTCCAGGCATTTGA
R:
TGTCTCCCTTGGCATAATGGC
Band lengths:
242-389
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: ELMI001910; ELM sequence: DSLDS; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains