Special

HsaEX0061550 @ hg38

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin alpha, non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11273]
Coordinates
chr9:128627386-128630375:+
Coord C1 exon
chr9:128627386-128627498
Coord A exon
chr9:128627925-128627942
Coord C2 exon
chr9:128630321-128630375
Length
18 bp
Sequences
Splice sites
3' ss Seq
CTTGGATCTGCTCTCCACAGGAC
3' ss Score
8.79
5' ss Seq
TGGGTTAAT
5' ss Score
-3.68
Exon sequences
Seq C1 exon
GAGAGGGAGCTGGAGCTGCAGAAGGAACAGCGGCGGCAGGAGGAGAACGACAAGCTGCGCCAGGAGTTTGCCCAGCACGCCAACGCCTTCCACCAGTGGATCCAAGAGACCAG
Seq A exon
GACATACCTCCTCGATGG
Seq C2 exon
GTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694_MULTIEX1-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.496 A=0.111 C2=0.579
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PD(6.7=18.4),PF0043516=Spectrin=PU(18.9=52.6)
A:
PF0043516=Spectrin=FE(5.7=100)
C2:
PF0043516=Spectrin=FE(17.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGAGGAGAACGACAAGCTG
R:
TCCCCGACTCTTCCACCATAC
Band lengths:
103-121
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development