HsaEX6063182 @ hg19
Exon Skipping
Gene
ENSG00000106976 | DNM1
Description
dynamin 1 [Source:HGNC Symbol;Acc:2972]
Coordinates
chr9:131012394-131015416:+
Coord C1 exon
chr9:131012394-131012635
Coord A exon
chr9:131013004-131013219
Coord C2 exon
chr9:131015380-131015416
Length
216 bp
Sequences
Splice sites
3' ss Seq
TCGCTCCCTGTCGCCCTCAGGTC
3' ss Score
10.95
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
ACCAAGGAGTTCATCTTCTCGGAGCTGCTGGCCAACCTGTACTCGTGTGGGGACCAGAACACGCTGATGGAGGAGTCGGCGGAGCAGGCACAGCGGCGCGACGAGATGCTGCGCATGTACCACGCACTGAAGGAGGCGCTCAGCATCATCGGCGACATCAACACGACCACCGTCAGCACGCCCATGCCCCCGCCCGTGGACGACTCCTGGCTGCAGGTGCAGAGCGTACCGGCCGGACGCAG
Seq A exon
GTCGCCCACGTCCAGCCCCACGCCGCAGCGCCGAGCCCCCGCCGTGCCCCCAGCCCGGCCCGGGTCGCGGGGCCCTGCTCCTGGGCCTCCGCCTGCTGGGTCCGCCCTGGGGGGGGCGCCCCCCGTGCCCTCCAGGCCGGGGGCTTCCCCTGACCCTTTCGGCCCTCCCCCTCAGGTGCCCTCGCGCCCCAACCGCGCCCCGCCCGGGGTCCCCAG
Seq C2 exon
AATCACTATCAGTGACCCCTGAGGAGCGTCAGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106976-'31-33,'31-32,32-33=AN
Average complexity
A_C2
Mappability confidence:
88%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.630 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0221213=GED=PD(56.5=64.2)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGGAGTTCATCTTCTCGGAGC
R:
CATGGCTGACGCTCCTCAG
Band lengths:
277-493
Functional annotations
There are 2 annotated functions for this event
PMID: 9148966
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis. ELM ID: ELMI000178; ELM sequence: PSRPNR; Overlap: FULL
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_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)