Special

HsaEX6063275 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131375660-131380039:+
Coord C1 exon
chr9:131375660-131375764
Coord A exon
chr9:131377911-131378119
Coord C2 exon
chr9:131379919-131380039
Length
209 bp
Sequences
Splice sites
3' ss Seq
TCTTATGTCCCCTGCCCCAGGAT
3' ss Score
8.62
5' ss Seq
CAAGTATGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
GTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAG
Seq A exon
GATCGCCTGAAGGACCTGAACAGCCAGGCAGACAGCCTGATGACCAGCAGTGCCTTCGACACCTCCCAAGTAAAGGACAAGAGGGACACCATCAACGGGCGCTTCCAGAAGATCAAGAGCATGGCGGCCTCCCGGCGAGCCAAGCTGAATGAATCCCATCGCCTGCACCAGTTCTTCCGGGACATGGATGACGAGGAGTCCTGGATCAA
Seq C2 exon
GGAGAAGAAGCTGCTGGTGGGCTCAGAGGACTACGGCCGGGACCTAACCGGCGTGCAGAACCTGAGGAAGAAGCACAAGCGGCTGGAAGCAGAACTGGCTGCGCATGAGCCGGCTATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'47-48,'47-47,49-48=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.122 C2=0.070
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=FE(32.4=100)
A:
PF0043516=Spectrin=PD(47.6=71.4),PF0043516=Spectrin=PU(16.2=24.3)
C2:
PF0043516=Spectrin=FE(38.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCTGGCATCCGAAGATTA
R:
CTGAATAGCCGGCTCATGCG
Band lengths:
218-427
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains