HsaEX0006293 @ hg38
Exon Skipping
Gene
ENSG00000126522 | ASL
Description
argininosuccinate lyase [Source:HGNC Symbol;Acc:HGNC:746]
Coordinates
chr7:66086744-66088921:+
Coord C1 exon
chr7:66086744-66086821
Coord A exon
chr7:66087334-66087386
Coord C2 exon
chr7:66088807-66088921
Length
53 bp
Sequences
Splice sites
3' ss Seq
ATGAATCCCTGTCCCTGCAGTGG
3' ss Score
8.31
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAG
Seq A exon
TGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAG
Seq C2 exon
CCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126522_MULTIEX2-7/8=6-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0020615=Lyase_1=FE(10.8=100)
A:
PF0020615=Lyase_1=PD(0.1=0.0),PF0020615=Lyase_1=FE(16.8=100)
C2:
PF0020615=Lyase_1=FE(12.9=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAAGCGGATCAATGTCCTG
R:
GTAGGCATCTGAGAGCTGCAC
Band lengths:
145-198
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