HsaEX0000108 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8848720-8850274:+
Coord C1 exon
chr12:8848720-8848914
Coord A exon
chr12:8849669-8849759
Coord C2 exon
chr12:8850160-8850274
Length
91 bp
Sequences
Splice sites
3' ss Seq
ATTTCTCTGATGCCTATCAGGAC
3' ss Score
7.41
5' ss Seq
GTGGTAAGC
5' ss Score
8.15
Exon sequences
Seq C1 exon
GTCTATGGGATGTTTCCATTCTGGTATGGTCACTACCCCTATCAAGTGGCTGAGTATGATCAGTGTCCAGTGTCTGGCCCATGGGACTTTCCTCAGCCCCTCATTGACCCAATGCCCCAAGGGCATTCGAGCCAGCGTTCCATTATCTGGAGGCCCTCGTTCTCTGAAGGCACGGACCTTTTCAGCTTTTTCCGG
Seq A exon
GACGTGGGCCTGAAAATACTGTCCAATGCCAAAATCAAGAAGCCAGTAGATTGCAGTCACAGATCTCCAGAATACAGCACTGCTATGGGTG
Seq C2 exon
CAGGCGGTGGTCATCCAGAGGCTTTTGAGTCATCAACTCCTTTACATCAAGCAGAGGATTCTCAGGTCCGCCAGTACTTCCCAGAGACCTGGCTCTGGGATCTGTTTCCTATTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=0.226 C2=0.385
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0020717=A2M=PU(9.9=23.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAGCCAGCGTTCCATTATCT
R:
AAACAGATCCCAGAGCCAGGT
Band lengths:
175-266
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