HsaEX0061549 @ hg38
Exon Skipping
Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128600080-128604417:+
Coord C1 exon
chr9:128600080-128600115
Coord A exon
chr9:128603543-128603590
Coord C2 exon
chr9:128604326-128604417
Length
48 bp
Sequences
Splice sites
3' ss Seq
CTGCTTTCCTCCCTACCTAGTCT
3' ss Score
8.06
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GATGAAACTGATTCCAAGACAGCCTCCCCGTGGAAG
Seq A exon
TCTGCTCGTCTGATGGTTCACACCGTGGCCACCTTTAATTCCATCAAG
Seq C2 exon
GAGCTGAATGAGCGCTGGCGGTCCCTACAGCAGCTGGCCGAGGAACGGAGCCAGCTCTTGGGCAGCGCCCATGAAGTACAGAGGTTCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'69-61,'69-60,71-61=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=0.992 A=0.000 C2=0.323
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0043516=Spectrin=PU(6.7=22.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGAAACTGATTCCAAGACAGCC
R:
GGAACCTCTGTACTTCATGGGC
Band lengths:
124-172
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development