Special

HsaEX0061546 @ hg38

Exon Skipping

Gene
Description
spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272]
Coordinates
chr1:158617537-158619334:-
Coord C1 exon
chr1:158619222-158619334
Coord A exon
chr1:158618039-158618056
Coord C2 exon
chr1:158617537-158617588
Length
18 bp
Sequences
Splice sites
3' ss Seq
TTCCGGACCTCCATGTCCAGGGC
3' ss Score
6.13
5' ss Seq
TGGGTCAGT
5' ss Score
4.68
Exon sequences
Seq C1 exon
GAACGGGAGCAGGAGCTGCAAAAGGAAGAGGCAAGACAGGTCAAGAACTTTGAGATGTGTCAGGAGTTTGAACAGAATGCCAGTACCTTCCTTCAATGGATCCTGGAAACCAG
Seq A exon
GGCTTACTTTCTGGATGG
Seq C2 exon
ATCATTGCTCAAAGAAACAGGAACTCTGGAATCTCAGCTGGAAGCAAATAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554-'62-58,'62-57,64-58
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.056
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PD(6.7=18.4),PF0043516=Spectrin=PU(19.6=52.6)
A:
PF0043516=Spectrin=FE(5.9=100)
C2:
PF0043516=Spectrin=FE(16.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGGAGTTTGAACAGAATGCC
R:
TTGCTTCCAGCTGAGATTCCA
Band lengths:
102-120
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development