Special

HsaEX0006289 @ hg38

Exon Skipping

Gene
Description
argininosuccinate lyase [Source:HGNC Symbol;Acc:HGNC:746]
Coordinates
chr7:66076039-66086662:+
Coord C1 exon
chr7:66076039-66076093
Coord A exon
chr7:66082880-66082936
Coord C2 exon
chr7:66086585-66086662
Length
57 bp
Sequences
Splice sites
3' ss Seq
GGGTCTCCCTTCACCTCCAGGAG
3' ss Score
9.54
5' ss Seq
CAGGTGCTT
5' ss Score
4.83
Exon sequences
Seq C1 exon
ACCCGGAGGACCGAAGCTTCCGGACGACGAGGAACCGCCCAACATGGCCTCGGAG
Seq A exon
GAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAG
Seq C2 exon
GGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126522_MULTIEX2-3/8=C1-5
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.053 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0020615=Lyase_1=FE(10.9=100)
C2:
PF0020615=Lyase_1=FE(15.8=100),PF0020615=Lyase_1=PU(1.9=7.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
(asl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGACCGAAGCTTCCGGA
R:
CTCAGAATCCAGTGGCTCCAG
Band lengths:
128-185
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development