HsaEX0020459 @ hg38
Exon Skipping
Gene
ENSG00000197959 | DNM3
Description
dynamin 3 [Source:HGNC Symbol;Acc:HGNC:29125]
Coordinates
chr1:172092824-172131288:+
Coord C1 exon
chr1:172092824-172092875
Coord A exon
chr1:172093696-172093725
Coord C2 exon
chr1:172131175-172131288
Length
30 bp
Sequences
Splice sites
3' ss Seq
ATAATTCTTTGCTATTTCAGGGA
3' ss Score
8.14
5' ss Seq
ATTGTACGA
5' ss Score
0.93
Exon sequences
Seq C1 exon
TGCTCAGCAGAGGAGCAGTCAGGTTCACAAGAAAACCACAGTTGGAAATCAG
Seq A exon
GGAACCAATCTTCCGCCTTCAAGGCAAATT
Seq C2 exon
GTGATTCGCAAGGGGTGGCTCACCATCAGCAACATTGGCATCATGAAAGGCGGCTCGAAGGGATACTGGTTCGTCCTTACTGCGGAAAGCTTGTCCTGGTATAAAGATGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197959-'29-47,'29-42,30-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.102 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0103115=Dynamin_M=PD(4.1=66.7)
A:
NO
C2:
PF0016924=PH=PU(35.6=97.4)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGGAGCAGTCAGGTTCACA
R:
CGAACCAGTATCCCTTCGAGC
Band lengths:
117-147
Functional annotations
There are 2 annotated functions for this event
PMID: 9725914
The authors generated stably transfected Clone 9 cells expressing full-length cDNAs of six different spliced forms of the three dynamin genes (Dnm1, Dnm2, and Dnm3) tagged with green fluorescent protein. The investigated splice variants are: Dnm1 (with mutually exclusive exon 10a (MmuEX6100535) or exon 10b (MmuEX0015279), Dnm2 (with/without cassette exon (MmuEX0015304), and Dnm3 (with/without cassette exon MmuEX0015311). Confocal or fluorescence microscopy of these transfected cells revealed that many of the dynamin proteins associate with distinct membrane compartments, which include clathrin-coated pits at the plasma membrane and the Golgi apparatus, and several undefined vesicle populations.
PMID: 15741233
Dyn3baa (exon inclusion) promotes the formation of immature dendritic filopodia in cultured neurons. This effect is dependent upon Dyn3 GTPase activity and a direct interaction with the F-actin-binding protein cortactin. Consistent with these findings, Dyn3baa binds to cortactin with a 200% higher affinity than Dyn3aaa, a near identical isoform that does not induce dendritic filopodia when expressed in cultured neurons.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development