Special

HsaEX6063305 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131339408-131340524:+
Coord C1 exon
chr9:131339408-131339552
Coord A exon
chr9:131339631-131339785
Coord C2 exon
chr9:131340389-131340524
Length
155 bp
Sequences
Splice sites
3' ss Seq
CTGACGGAGTTCATTTCTAGGTC
3' ss Score
3.55
5' ss Seq
CAGGTGCAA
5' ss Score
2.83
Exon sequences
Seq C1 exon
GGATGTGGATGAGACTATCAGTTGGATTAAGGAAAAGGAGCAGTTAATGGCCTCTGATGATTTTGGCCGAGACCTGGCAAGTGTTCAGGCTCTGCTTCGGAAGCACGAGGGTCTGGAGAGAGATCTTGCTGCTCTAGAAGACAAG
Seq A exon
GTCAAAGCCCTGTGTGCTGAGGCTGACCGCCTGCAACAGTCCCACCCTCTGAGTGCAACACAGATTCAAGTGAAGCGAGAGGAACTGATTACAAACTGGGAGCAGATCCGCACCTTGGCGGCAGAGAGACATGCACGGCTCAATGATTCATACAG
Seq C2 exon
GCTTCAACGCTTCCTTGCTGACTTCCGTGACCTCACCAGCTGGGTGACTGAGATGAAAGCCCTCATCAATGCAGATGAGCTTGCCAGTGATGTGGCTGGGGCTGAAGCCCTGCTAGATAGACACCAAGAGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'9-10,'9-9,10-10=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=0.038 C2=0.065
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=FE(45.7=100)
A:
PF0043516=Spectrin=PD(45.7=92.3),PF0043516=Spectrin=PU(1.0=1.9)
C2:
PF0043516=Spectrin=FE(42.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAAAGGAGCAGTTAATGGCC
R:
TGGTGTCTATCTAGCAGGGCT
Band lengths:
242-397
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains