HsaEX0006683 @ hg19
Exon Skipping
Gene
ENSG00000119787 | ATL2
Description
atlastin GTPase 2 [Source:HGNC Symbol;Acc:24047]
Coordinates
chr2:38581209-38604404:-
Coord C1 exon
chr2:38604285-38604404
Coord A exon
chr2:38585585-38585830
Coord C2 exon
chr2:38581209-38581319
Length
246 bp
Sequences
Splice sites
3' ss Seq
TAATTTTTTTTTTTTTTCAGACG
3' ss Score
9.13
5' ss Seq
CAGGTGTGA
5' ss Score
5.29
Exon sequences
Seq C1 exon
AGATGGCGGAGGGGGACGAGGCAGCGCGAGGGCAGCAACCGCACCAGGGGCTGTGGCGCCGGCGACGGACCAGCGACCCAAGCGCCGCGGTTAACCACGTCTCGTCCACGACCTCCCTAG
Seq A exon
ACGGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCACGGTCTCGGCTCACTGCAAGCTCCGCCTCTTGGGTCCACGCCATTCTCCGGCCTCAGCCTCCTGAGTATCTGGGACTACAGGCGCCTGCCACCGTGTCCGGCTTACTTTTTTTGTATTTTTAATAGAGACGGGGTTTCCCTGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG
Seq C2 exon
AGTCTTGCTCTGTCGCCAGGTTGGAGTGCAGTGGCACGATCTTCGCTTACTGCAACCTCCCGGGTTCAAGTGATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119787-'0-4,'0-3,3-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.828 A=0.000 C2=0.105
Domain overlap (PFAM):
C1:
PF117293=Capsid-VNN=PU(56.5=92.1)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGGACCAGCGACCCAAG
R:
AATCCCAGCTACTTGGGAGGC
Band lengths:
164-410
Functional annotations
There are 0 annotated functions for this event
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)