Special

HsaEX6092926 @ hg19

Exon Skipping

Gene
Description
dynamin 2 [Source:HGNC Symbol;Acc:2974]
Coordinates
chr19:10939712-10942579:+
Coord C1 exon
chr19:10939712-10939944
Coord A exon
chr19:10940803-10941054
Coord C2 exon
chr19:10941654-10942579
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-'25-24,'25-23,26-24=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.538 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0221213=GED=PD(56.5=66.7)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
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
This event
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