HsaEX6065039 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8849669-8852012:+
Coord C1 exon
chr12:8849669-8849759
Coord A exon
chr12:8850160-8850274
Coord C2 exon
chr12:8851784-8852012
Length
115 bp
Sequences
Splice sites
3' ss Seq
CGTATTCTCAATTTCATCAGCAG
3' ss Score
2.69
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GACGTGGGCCTGAAAATACTGTCCAATGCCAAAATCAAGAAGCCAGTAGATTGCAGTCACAGATCTCCAGAATACAGCACTGCTATGGGTG
Seq A exon
CAGGCGGTGGTCATCCAGAGGCTTTTGAGTCATCAACTCCTTTACATCAAGCAGAGGATTCTCAGGTCCGCCAGTACTTCCCAGAGACCTGGCTCTGGGATCTGTTTCCTATTGG
Seq C2 exon
TAACTCGGGGAAGGAGGCGGTCCACGTCACAGTTCCTGACGCCATCACCGAGTGGAAGGCGATGAGTTTCTGCACTTCCCAGTCAAGAGGCTTCGGGCTTTCACCCACTGTTGGACTAACTGCTTTCAAGCCGTTCTTTGTTGACCTGACTCTCCCTTACTCAGTAGTCCGTGGGGAATCCTTTCGTCTTACTGCCACCATCTTCAATTACCTAAAGGATTGCATCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'30-30,'30-28,31-30=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.226 A=0.385 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0020717=A2M=PU(9.9=23.1)
C2:
PF0020717=A2M=FE(83.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCAAAATCAAGAAGCCAGT
R:
AGGATTCCCCACGGACTACTG
Band lengths:
247-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains