HsaEX6092926 @ hg38
Exon Skipping
Gene
ENSG00000079805 | DNM2
Description
dynamin 2 [Source:HGNC Symbol;Acc:HGNC:2974]
Coordinates
chr19:10829036-10831884:+
Coord C1 exon
chr19:10829036-10829268
Coord A exon
chr19:10830127-10830378
Coord C2 exon
chr19:10830978-10831884
Length
252 bp
Sequences
Splice sites
3' ss Seq
CACCCTCTCCTTCCTCACAGCCC
3' ss Score
11.23
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
ACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAG
Seq A exon
CCCCACTCCACAGCGCCGACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAG
Seq C2 exon
CAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATATCAACTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079805-'78-69,'78-66,80-69
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.548 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0221213=GED=PD(56.5=66.7)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTCAACATCATCGGTGACA
R:
CAGCGTTAAGGAAGAGGCCAG
Band lengths:
302-554
Functional annotations
There are 1 annotated functions for this event
PMID: 15483625
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: competition binding, glutathione s tranferase tag, nuclear magnetic resonance, pull down, surface plasmon resonance. ELM ID: ELMI002131; ELM sequence: PQIPSR; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains