Special

HsaEX6094931 @ hg38

Exon Skipping

Gene
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38675542-38701121:+
Coord C1 exon
chr19:38675542-38675642
Coord A exon
chr19:38700600-38700714
Coord C2 exon
chr19:38701002-38701121
Length
115 bp
Sequences
Splice sites
3' ss Seq
CCTTTGTTCTGCTTCCCCAGACC
3' ss Score
9.92
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GCTTTTTAATAAGCCCAGAAATTTCTTTCAAGAGGGAGGATCTTTGTGAACATCTTGAGCCGCGTTCTTGATCGCTGGCTGTGGAAGCCTCCACCTATCAG
Seq A exon
ACCTTCACGGCATGGTGCAACTCCCACCTGCGGAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAG
Seq C2 exon
GGGAGCGGTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAAGCTGGTCTCCATCGGGGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'12-11,'12-10,26-11
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
NA
A:
PF0030726=CH=FE(37.3=100)
C2:
PF0030726=CH=FE(39.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTTTTAATAAGCCCAGAAATTTCT
R:
CTTCTGCCCCGATGGAGACC
Band lengths:
221-336
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains