RnoINT0061624 @ rn6
Intron Retention
Gene
ENSRNOG00000003207 | Fmnl1
Description
formin-like 1 [Source:RGD Symbol;Acc:1311042]
Coordinates
chr10:91280294-91280818:+
Coord C1 exon
chr10:91280294-91280414
Coord A exon
chr10:91280415-91280719
Coord C2 exon
chr10:91280720-91280818
Length
305 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
TTCTATCCCCCAAACCTCAGTGC
3' ss Score
4.81
Exon sequences
Seq C1 exon
TCTCCTCCCAAGGCCAGGCGACAACAGATGGACCTCATCTCTGAGCTAAAACGGAAGCAGCTGAAAGAACCACTCATCTATGAGAGTGACCGAGATGGGGCCATTGAAGACATCATCACAG
Seq A exon
GTGAGAGCTTCGTCTGGTCTGTCCTGTCTCCAGTCTCGACCACATCCTCCTCTTCCTGAATTTCTCCCCATCCTGAGGGGTCTGCTGCCTCCTCCCATTCCATCTCATTGTGCAGCCCTGGCTTGCCCAGAAACTTGCTGTGTAGACCAGGCTGGCCTTAAACGCACAGAGATCCTCTTGCCTCTGCCCCTGCAGAGCTGGGATCAAAGGTACGGGCCACCATGCCTGTTCTGCATACCTCTTGCTACCTTTTCTGCTTTTCTTTTTTTTTTCTCTCTCTCTACCTTCTATCCCCCAAACCTCAG
Seq C2 exon
TGCTCAAGACAGTGCCCTTCACTGCCCGTACTGGCAAGCGGACATCCCGGCTCCTCTGTGAGGCCAGCCTGGGAGAGGAGATGACCCTCTAGCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSRNOG00000003207:ENSRNOT00000065373:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.463 A=NA C2=0.067
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Human
(hg19)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCTCCCAAGGCCAGG
R:
GGGAGCTAGAGGGTCATCTCC
Band lengths:
218-523
Functional annotations
There are 1 annotated functions for this event
PMID: 19815554
The study identified a novel splice variant (FMNL1gamma) containing an intron retention (HsaINT0065113, which also covers the downstream one, as it is associated with an AltEx) at the C terminus affecting the diaphanous autoinhibitory domain (DAD). FMNL1gamma is specifically located at the cell membrane and cortex in diverse cell lines. Similar localization of FMNL1 was observed for a mutant lacking the DAD domain (FMNL1DeltaDAD), indicating that deregulation of autoinhibition is effective in FMNL1gamma. Expression of both FMNL1gamma and FMNL1DeltaDAD induces polarized nonapoptotic blebbing that is dependent on N-terminal myristoylation of FMNL1 but independent of Src and ROCK activity. Thus, these results describe N-myristoylation as a regulative mechanism of FMNL1 responsible for membrane trafficking potentially involved in a diversity of polarized processes of hematopoietic lineage-derived cells.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]