HsaEX6063310 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128566738-128574815:+
Coord C1 exon
chr9:128566738-128566977
Coord A exon
chr9:128568772-128568897
Coord C2 exon
chr9:128574675-128574815
Length
126 bp
Sequences
Splice sites
3' ss Seq
ACTTCAAGGTCCGCCAACAGGGA
3' ss Score
2.92
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
AAAATGGACCCAAGTGGGGTCAAAGTGCTGGAAACAGCAGAGGACATCCAGGAGAGGCGGCAGCAGGTCCTAGACCGATACCACCGCTTCAAGGAACTCTCAACCCTTAGGCGTCAGAAGCTGGAAGATTCCTATCGATTCCAGTTCTTTCAAAGAGATGCTGAAGAGCTGGAGAAATGGATACAGGAAAAACTTCAGATTGCATCTGATGAGAATTATAAAGACCCAACCAACTTGCAG
Seq A exon
GGAAAGCTTCAGAAGCATCAAGCATTTGAAGCTGAAGTGCAGGCCAACTCAGGAGCCATTGTTAAGCTGGATGAAACTGGAAACCTGATGATCTCAGAAGGGCATTTTGCATCTGAAACCATACGG
Seq C2 exon
ACCCGTTTGATGGAGCTGCACCGCCAGTGGGAATTACTTTTGGAGAAGATGCGAGAAAAAGGAATCAAACTGCTGCAGGCCCAGAAGTTGGTGCAGTACTTACGAGAATGTGAGGACGTGATGGACTGGATCAATGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.174 A=0.012 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PU(33.7=44.3)
A:
PF0043516=Spectrin=FE(39.4=100)
C2:
PF0043516=Spectrin=PD(24.0=53.2),PF0043516=Spectrin=PU(18.3=40.4)
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:
CAGCAGAGGACATCCAGGAGA
R:
AAGTAATTCCCACTGGCGGTG
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains