HsaEX0061551 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128609122-128611845:+
Coord C1 exon
chr9:128609122-128609284
Coord A exon
chr9:128609651-128609665
Coord C2 exon
chr9:128611714-128611845
Length
15 bp
Sequences
Splice sites
3' ss Seq
CTTTTAATCTGTTTTTGTAGCTT
3' ss Score
8.44
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GTGGCGACGTCTGAAAGCCCAGATGATTGAGAAAAGGTCAAAGCTAGGAGAATCTCAAACCCTCCAACAGTTCAGCCGGGATGTGGATGAGATTGAGGCTTGGATCAGTGAAAAATTGCAAACAGCGAGTGATGAGTCGTACAAGGATCCCACCAACATCCAG
Seq A exon
CTTTCCAAGCTGCTG
Seq C2 exon
AGCAAGCACCAGAAGCACCAGGCTTTTGAAGCAGAGCTGCATGCCAACGCTGACCGGATCCGTGGGGTTATCGACATGGGCAACTCCCTCATTGAACGTGGAGCCTGTGCCGGCAGTGAGGATGCTGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.125 A=0.000 C2=0.083
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(16.2=30.9),PF0043516=Spectrin=PU(33.0=63.6)
A:
PF0043516=Spectrin=FE(3.6=100)
C2:
PF0043516=Spectrin=FE(40.6=100)


Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCGTACAAGGATCCCACCA
R:
GTTGCCCATGTCGATAACCCC
Band lengths:
113-128
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development