Special

HsaEX0061550 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131389665-131392654:+
Coord C1 exon
chr9:131389665-131389777
Coord A exon
chr9:131390204-131390221
Coord C2 exon
chr9:131392600-131392654
Length
18 bp
Sequences
Splice sites
3' ss Seq
CTTGGATCTGCTCTCCACAGGAC
3' ss Score
8.79
5' ss Seq
TGGGTTAAT
5' ss Score
-3.68
Exon sequences
Seq C1 exon
GAGAGGGAGCTGGAGCTGCAGAAGGAACAGCGGCGGCAGGAGGAGAACGACAAGCTGCGCCAGGAGTTTGCCCAGCACGCCAACGCCTTCCACCAGTGGATCCAAGAGACCAG
Seq A exon
GACATACCTCCTCGATGG
Seq C2 exon
GTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'62-66,'62-61,65-66
Average complexity
S
Mappability confidence:
100%=100=88%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.438 A=0.000 C2=0.561
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PD(6.7=15.9),PF0043516=Spectrin=PU(24.5=59.1)
A:
PF0043516=Spectrin=FE(20.7=100)
C2:
PF0043516=Spectrin=FE(17.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGAGGAGAACGACAAGCTG
R:
TCCCCGACTCTTCCACCATAC
Band lengths:
103-121
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