Special

BtaEX6082164 @ bosTau6

Exon Skipping

Gene
Description
Bos taurus actinin, alpha 4 (ACTN4), mRNA. [Source:RefSeq mRNA;Acc:NM_001098052]
Coordinates
chr18:48722388-48728805:+
Coord C1 exon
chr18:48722388-48722473
Coord A exon
chr18:48726887-48726979
Coord C2 exon
chr18:48728575-48728805
Length
93 bp
Sequences
Splice sites
3' ss Seq
AACCCCGTCCCCCGACCCAGGCT
3' ss Score
4.68
5' ss Seq
GACGTGAGT
5' ss Score
9.22
Exon sequences
Seq C1 exon
ACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCGGGAGCGCAGAAG
Seq A exon
GCTGAGACCGCTGCCAACCGGATCTGCAAGGTGCTGGCCGTCAACCAGGAGAACGAGCACCTGATGGAAGATTATGAGAGGCTGGCCAGCGAC
Seq C2 exon
CTCCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGCGTGCCGCAGAAAACCATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCGACTACCGGCGGGTCCACAAGCCGCCGAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCAGCAACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGATGGTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSBTAG00000011215-'22-14,'22-13,25-14=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CTACCATGCCTTTTCGGGAGC
R:
TGATCTCCAGCTGGCACTTCT
Band lengths:
182-275
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]