HsaEX0061548 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128552590-128566977:+
Coord C1 exon
chr9:128552590-128552696
Coord A exon
chr9:128555349-128555399
Coord C2 exon
chr9:128566738-128566977
Length
51 bp
Sequences
Splice sites
3' ss Seq
TCTTCCCCCTCCCTCTTTAGACT
3' ss Score
11.33
5' ss Seq
CAGGTATTT
5' ss Score
7.51
Exon sequences
Seq C1 exon
ACTACCCGCTGCGGAGTGAACGGTGTGGAGCGGAGGCCGCGGAGGCTCCTCGGTCCTTCAGCACCCCTCGGCCCGACGCACCCACGCCCCTCACCCCCCGAGAGCCG
Seq A exon
ACTCCACATTCCTCCATCATGTTGTCATCGTTTCGTAAACGCAGAGTCCAG
Seq C2 exon
AAAATGGACCCAAGTGGGGTCAAAGTGCTGGAAACAGCAGAGGACATCCAGGAGAGGCGGCAGCAGGTCCTAGACCGATACCACCGCTTCAAGGAACTCTCAACCCTTAGGCGTCAGAAGCTGGAAGATTCCTATCGATTCCAGTTCTTTCAAAGAGATGCTGAAGAGCTGGAGAAATGGATACAGGAAAAACTTCAGATTGCATCTGATGAGAATTATAAAGACCCAACCAACTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'8-8,'8-7,9-8=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.174
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0043516=Spectrin=PU(33.7=44.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGCAAACCATCACCTCTC
R:
TCTCCTGGATGTCCTCTGCTG
Band lengths:
137-188
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