HsaEX0020437 @ hg19
Exon Skipping
Gene
ENSG00000106976 | DNM1
Description
dynamin 1 [Source:HGNC Symbol;Acc:2972]
Coordinates
chr9:131013004-131016441:+
Coord C1 exon
chr9:131013004-131013219
Coord A exon
chr9:131015380-131015416
Coord C2 exon
chr9:131016285-131016441
Length
37 bp
Sequences
Splice sites
3' ss Seq
GATTTCGTGCTGTCTTTCAGAAT
3' ss Score
9.63
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
GTCGCCCACGTCCAGCCCCACGCCGCAGCGCCGAGCCCCCGCCGTGCCCCCAGCCCGGCCCGGGTCGCGGGGCCCTGCTCCTGGGCCTCCGCCTGCTGGGTCCGCCCTGGGGGGGGCGCCCCCCGTGCCCTCCAGGCCGGGGGCTTCCCCTGACCCTTTCGGCCCTCCCCCTCAGGTGCCCTCGCGCCCCAACCGCGCCCCGCCCGGGGTCCCCAG
Seq A exon
AATCACTATCAGTGACCCCTGAGGAGCGTCAGCCATG
Seq C2 exon
CAGGAAGGGCCCAGCCTCACCTACGAGACCTGCAGCCCCCCGACCAGCTGAGGCTCCCCTCTTAGACTTATAAGTCTATGGCCACTGGCATCCGGCTGCCTGCCCTCCCTGCCTCCCCCAGGGTCCCTTCAGAGGGTCCTGGGTTTTCTGAACACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106976-'32-35,'32-33,34-35
Average complexity
C2
Mappability confidence:
100%=80=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTTCGGCCCTCCCCCTC
R:
GTCTAAGAGGGGAGCCTCAGC
Band lengths:
128-165
Functional annotations
There are 1 annotated functions for this event
PMID: 21689596
This event
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: competition binding, glutathione s tranferase tag, mutation analysis, pull down. ELM ID: ELMI002614; ELM sequence: VPRITIS; Overlap: PARTIAL_LEFT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)