HsaEX6065049 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8823720-8834682:+
Coord C1 exon
chr12:8823720-8823882
Coord A exon
chr12:8829727-8829779
Coord C2 exon
chr12:8834662-8834682
Length
53 bp
Sequences
Splice sites
3' ss Seq
TGATGCCTGTTCCTTTCCAGTGT
3' ss Score
9.29
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GTACCACCTCCTGCTGGTGGCACAGAAGAAGTGGCCACAATCCGGGTGTCGGGAGTTGGAAATAACATCAGCTTTGAGGAGAAGAAAAAGGTTCTAATTCAGAGGCAGGGGAACGGCACCTTTGTACAGACTGACAAACCTCTCTACACCCCAGGGCAGCAAG
Seq A exon
TGTATTTCCGCATTGTCACCATGGATAGCAACTTCGTTCCAGTGAATGACAAG
Seq C2 exon
TACTCCATGGTGGAACTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.041 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0183514=A2M_N=PU(13.6=29.1)
A:
PF0183514=A2M_N=FE(14.4=100)
C2:
PF0183514=A2M_N=FE(5.1=100)
Main Skipping Isoform:
ENST00000299698fB8292
Other Inclusion Isoforms:
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains