HsaEX6065042 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8845442-8847698:+
Coord C1 exon
chr12:8845442-8845502
Coord A exon
chr12:8846077-8846222
Coord C2 exon
chr12:8847549-8847698
Length
146 bp
Sequences
Splice sites
3' ss Seq
TATTCCCTCTTCTCTTTCAGGAC
3' ss Score
12.92
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
TTAATAGGGAAAGGAAGTTTGGTGATGGAGGGGCAGAAACACCTGAACTCTAAGAAGAAAG
Seq A exon
GACTGAAAGCCTCCTTCTCTCTCTCACTGACCTTCACTTCGAGACTGGCCCCTGATCCTTCCCTGGTGATCTATGCCATTTTTCCCAGTGGAGGTGTTGTAGCTGACAAAATTCAGTTCTCAGTCGAGATGTGCTTTGACAATCAG
Seq C2 exon
GTTTCCCTTGGCTTCTCCCCCTCCCAGCAGCTTCCAGGAGCAGAAGTGGAGCTGCAGCTGCAGGCAGCTCCCGGATCCCTGTGTGCGCTCCGGGCGGTGGATGAGAGTGTCTTACTGCTTAGGCCAGACAGAGAGCTGAGCAACCGCTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'22-25,'22-23,24-25=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=0.000 A=0.000 C2=0.003
Domain overlap (PFAM):
C1:
PF077039=A2M_N_2=FE(13.4=100)
A:
PF077039=A2M_N_2=FE(32.2=100)
C2:
PF077039=A2M_N_2=PD(26.2=78.0)
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:
AGGGAAAGGAAGTTTGGTGATGG
R:
CGGTTGCTCAGCTCTCTGTCT
Band lengths:
202-348
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains