Special

HsaEX6063287 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131361242-131365869:+
Coord C1 exon
chr9:131361242-131361265
Coord A exon
chr9:131362359-131362394
Coord C2 exon
chr9:131365822-131365869
Length
36 bp
Sequences
Splice sites
3' ss Seq
ATTCCTCTTTCTTTGAATAGGAT
3' ss Score
10.28
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GAAGTGTATGGCATGATGCCCAGG
Seq A exon
GATGAAACTGATTCCAAGACAGCCTCCCCGTGGAAG
Seq C2 exon
TCTGCTCGTCTGATGGTTCACACCGTGGCCACCTTTAATTCCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'29-32,'29-31,31-32=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0043516=Spectrin=PD(2.4=25.0)
A:
NO
C2:
NO


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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 9712874
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, cleavage reaction, glutathione s tranferase tag, western blot. ELM ID: ELMI001909; ELM sequence: DETDS; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains