Special

HsaEX0061549 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131362359-131366696:+
Coord C1 exon
chr9:131362359-131362394
Coord A exon
chr9:131365822-131365869
Coord C2 exon
chr9:131366605-131366696
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-'31-33,'31-32,32-33
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.000 C2=0.323
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0043516=Spectrin=PU(6.7=22.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
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