HsaEX6071906 @ hg19
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69378873-69392389:-
Coord C1 exon
chr14:69392275-69392389
Coord A exon
chr14:69387723-69387842
Coord C2 exon
chr14:69378873-69378959
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTCCCTCTTGATCCAAACAGGTG
3' ss Score
9.71
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
ACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAACATCGAAGAGGACTTCCGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAG
Seq A exon
GTGAACGCTTGGCCAAGCCAGAGCGAGGCAAGATGAGAGTGCACAAGATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAG
Seq C2 exon
AAATCGTGGATGGGAATGTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-'5-6,'5-5,8-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.004 A=0.010 C2=0.003
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(10.1=77.8)
A:
PF0030726=CH=FE(39.2=100)
C2:
PF0030726=CH=PD(20.6=70.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTCACGGCATGGTGTAACT
R:
CTTCCACGGAGATGTCCTGGA
Band lengths:
202-322
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)