Special

HsaEX0020439 @ hg38

Exon Skipping

Gene
Description
dynamin 1 [Source:HGNC Symbol;Acc:HGNC:2972]
Coordinates
chr9:128247375-128248753:+
Coord C1 exon
chr9:128247375-128247486
Coord A exon
chr9:128247924-128247935
Coord C2 exon
chr9:128248583-128248753
Length
12 bp
Sequences
Splice sites
3' ss Seq
TTGGTGTGTGGGCCTCCCAGGAC
3' ss Score
5.8
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GAATGTCTACAAGGATTATCGGCAGCTGGAGCTAGCCTGTGAGACACAGGAGGAGGTGGACAGCTGGAAGGCCTCCTTCCTGAGGGCTGGCGTGTACCCTGAGCGTGTTGGG
Seq A exon
GACAAAGAGAAA
Seq C2 exon
GCCAGCGAGACCGAGGAGAATGGCTCCGACAGCTTCATGCATTCCATGGACCCACAGCTGGAACGGCAAGTGGAGACCATCCGGAATCTTGTGGACTCATACATGGCCATTGTCAACAAGACCGTGAGGGACCTCATGCCCAAGACCATCATGCACCTCATGATTAACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106976-'59-67,'59-66,60-67
Average complexity
S
Mappability confidence:
100%=50=100%
Protein Impact

Alternative protein isoforms (Ref)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.026 A=1.000 C2=0.319
Domain overlap (PFAM):

C1:
PF0016924=PH=PD(27.9=76.3)
A:
NO
C2:
PF0221213=GED=PU(41.3=66.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAGGTGGACAGCTGGAAG
R:
GGAATGCATGAAGCTGTCGGA
Band lengths:
108-120
Functional annotations
There are 0 annotated functions for this event


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