Special

HsaEX6063310 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131329017-131337094:+
Coord C1 exon
chr9:131329017-131329256
Coord A exon
chr9:131331051-131331176
Coord C2 exon
chr9:131336954-131337094
Length
126 bp
Sequences
Splice sites
3' ss Seq
ACTTCAAGGTCCGCCAACAGGGA
3' ss Score
2.92
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
AAAATGGACCCAAGTGGGGTCAAAGTGCTGGAAACAGCAGAGGACATCCAGGAGAGGCGGCAGCAGGTCCTAGACCGATACCACCGCTTCAAGGAACTCTCAACCCTTAGGCGTCAGAAGCTGGAAGATTCCTATCGATTCCAGTTCTTTCAAAGAGATGCTGAAGAGCTGGAGAAATGGATACAGGAAAAACTTCAGATTGCATCTGATGAGAATTATAAAGACCCAACCAACTTGCAG
Seq A exon
GGAAAGCTTCAGAAGCATCAAGCATTTGAAGCTGAAGTGCAGGCCAACTCAGGAGCCATTGTTAAGCTGGATGAAACTGGAAACCTGATGATCTCAGAAGGGCATTTTGCATCTGAAACCATACGG
Seq C2 exon
ACCCGTTTGATGGAGCTGCACCGCCAGTGGGAATTACTTTTGGAGAAGATGCGAGAAAAAGGAATCAAACTGCTGCAGGCCCAGAAGTTGGTGCAGTACTTACGAGAATGTGAGGACGTGATGGACTGGATCAATGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'4-5,'4-4,5-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.177 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PU(33.7=44.3)
A:
PF0043516=Spectrin=FE(39.4=100)
C2:
PF0043516=Spectrin=PD(24.0=53.2),PF0043516=Spectrin=PU(18.3=40.4)


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:
CAGCAGAGGACATCCAGGAGA
R:
AAGTAATTCCCACTGGCGGTG
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains