Special

HsaEX6063294 @ hg19

Exon Skipping

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131347000-131349977:+
Coord C1 exon
chr9:131347000-131347122
Coord A exon
chr9:131348027-131348244
Coord C2 exon
chr9:131349885-131349977
Length
218 bp
Sequences
Splice sites
3' ss Seq
TTTCCCTACCCATCTTCCAGGCC
3' ss Score
10.73
5' ss Seq
GAGGTAACC
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTAAGGATTTAATTGGGGTCCAGAATCTGCTAAAGAAACATCAAGCCTTACAAGCAGAAATTGCTGGACATGAACCACGCATCAAAGCAGTTACACAGAAGGGGAATGCCATGGTGGAGGAAG
Seq A exon
GCCATTTTGCTGCAGAGGATGTGAAGGCCAAGCTTCACGAGCTGAACCAAAAGTGGGAGGCACTGAAAGCCAAAGCTTCCCAGCGTCGGCAGGACCTGGAGGACTCTCTGCAGGCCCAGCAGTACTTTGCTGATGCTAACGAGGCTGAATCCTGGATGCGGGAGAAGGAACCCATTGTGGGCAGCACTGACTATGGCAAGGACGAAGACTCTGCTGAG
Seq C2 exon
GCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-'21-22,'21-21,22-22=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=0.476 A=0.425 C2=0.194
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=FE(39.0=100)
A:
PF0043516=Spectrin=PD(32.4=46.6),PF0043516=Spectrin=PU(42.9=49.3)
C2:
PF0043516=Spectrin=FE(35.7=100)


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:
AAGGATTTAATTGGGGTCCAGA
R:
GGCAGGACTGTGCTTGTTCTC
Band lengths:
212-430
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains