Special

HsaEX0002150 @ hg19

Exon Skipping

Gene
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236898935-236902832:+
Coord C1 exon
chr1:236898935-236899020
Coord A exon
chr1:236900422-236900514
Coord C2 exon
chr1:236902602-236902832
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTACCTATTGTGTTTTACAGGCC
3' ss Score
10.93
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
Seq A exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
Seq C2 exon
CTTTTGGAATGGATTCGTCGCACGATCCCCTGGCTGGAGAACCGGACTCCCGAGAAGACCATGCAAGCCATGCAGAAGAAGCTGGAGGACTTCCGGGATTACCGCCGGAAGCACAAGCCACCCAAGGTGCAGGAGAAATGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGATCAGCAACCGTCCTGCCTTCATGCCCTCCGAGGGCAAGATGGTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-'8-10,'8-9,9-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (disopred):
  C1=0.000 A=0.129 C2=0.019
Domain overlap (PFAM):

C1:
PF0030726=CH=PD(23.1=82.8)
A:
PF0043516=Spectrin=PU(9.9=35.5)
C2:
PF0043516=Spectrin=FE(68.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCTCTTGCTTCTACCACGC
R:
TGGCATTTCTCCTGCACCTTG
Band lengths:
183-276
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development