HsaEX6071235 @ hg38
Exon Skipping
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50593846-50613351:+
Coord C1 exon
chr14:50593846-50593896
Coord A exon
chr14:50595576-50595632
Coord C2 exon
chr14:50613259-50613351
Length
57 bp
Sequences
Splice sites
3' ss Seq
GTGTGTAATTTTTTTTCTAGCTT
3' ss Score
7.84
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GTATATAACTTATCCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAG
Seq A exon
CTTTTCACTGAGTATGGCAGACTGGCAATGGAGGAAACATTCCTGAAGCCATTTCAG
Seq C2 exon
AGTCTGATATTTCTTGTTCGAGACTGGAGTTTCCCATACGAATTTTCATATGGAGCCGATGGTGGTGCCAAATTCTTGGAAAAACGCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513-'23-21,'23-17,25-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0226314=GBP=FE(21.3=100)
A:
PF0226314=GBP=FE(24.0=100)
C2:
PF0226314=GBP=PD(10.7=80.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCCAAAATGTCCAGGAGGA
R:
CTTGAGGCGTTTTTCCAAGAA
Band lengths:
133-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains