DreEX0010948 @ danRer10
Exon Skipping
Gene
ENSDARG00000071090 | actn2b
Description
actinin, alpha 2b [Source:ZFIN;Acc:ZDB-GENE-051127-39]
Coordinates
chr17:20114805-20118427:-
Coord C1 exon
chr17:20118340-20118427
Coord A exon
chr17:20117767-20117842
Coord C2 exon
chr17:20114805-20114886
Length
76 bp
Sequences
Splice sites
3' ss Seq
TTTTTGTGTGACTTCAATAGCTG
3' ss Score
6.5
5' ss Seq
AAGGTAGCT
5' ss Score
6.77
Exon sequences
Seq C1 exon
AAACTTCGGCCAAAGAAGGACTTCTGCTGTGGTGTCAGAGAAAGACTGCCCCGTACCGAAATGTCAATGTTCAAAACTTCCATGTCAG
Seq A exon
CTGGAAGAGTGGACTGGCCTTCTGTGCCCTTATTCATAGACACAGACCGTGTCTGATTGATTATCAGAACTTGAAG
Seq C2 exon
GATGATCCACTGGGTAATTTAAATCTGGCATTTGACATTGCTGAAAAACATCTGGACATCCCCAAAATGCTGGATGCAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000071090_MULTIEX2-6/9=4-7
Average complexity
ME(5-6[100=99])
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(24.0=83.3)
A:
NA
C2:
PF0030726=CH=FE(26.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTCGGCCAAAGAAGGACTT
R:
CCAGCATTTTGGGGATGTCCA
Band lengths:
159-235
Functional annotations
There are 3 annotated functions for this event
PMID: 16980305
This study isolated a novel splice variant of alpha-actinin 4 (skipping exons 3-12; ENST00000424234) that is predominantly localized in the nucleus, a pattern distinct from the full-length alpha-actinin 4, which is primarily distributed in the cytoplasm and plasma membrane. Exon 3: HsaEX6094930, ex 4: HsaEX6094929, ex 5: HsaEX6094928, ex 6: HsaEX6094927, ex 7: HsaEX6094926, ex 8: HsaEX0002154, ex 9: HsaEX7010513, ex 10: HsaEX1002558, ex 11: HsaEX6094925, ex 12: HsaEX6094924.
PMID: 22908231
ACTN4(Iso) overexpression increases transcriptional activity of the VDRE and ERE promoters. Both ACTN4(WT) and ACTN4(Iso) co-immunoprecipitate with estrogen receptors. Overexpression of ACTN4(Iso) fused to Gal4 increases basal transcription. The same is seen with overexpression of ACTN4(WT)-Gal4, but the effect is smaller.
PMID: 27998979
Overexpression of either ATN4(WT) or ACTN4(Iso) increases GRE reporter activity. Disruption of the LXXLL nuclear receptor-interacting motif present in ACTN4 results in reduced GR interaction and dexamethasone-mediated transactivation of a GRE reporter while still maintaining its actin-binding activity. In contrast, an ACTN4 isoform, ACTN4 (Iso), that loses its actin-binding domain is still capable of potentiating a GRE reporter.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]