HsaEX6065032 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8857164-8858102:+
Coord C1 exon
chr12:8857164-8857340
Coord A exon
chr12:8857507-8857588
Coord C2 exon
chr12:8857946-8858102
Length
82 bp
Sequences
Splice sites
3' ss Seq
AACCACATTTGGCTTCCCAGGGT
3' ss Score
5.5
5' ss Seq
ATGGTAATA
5' ss Score
5.05
Exon sequences
Seq C1 exon
GAGACATTATGGGCACAGCCCTGCAGAACCTGGATGGTCTGGTGCAGATGCCCAGTGGCTGTGGCGAGCAGAACATGGTCTTGTTTGCTCCCATCATCTATGTCTTGCAGTACCTGGAGAAGGCAGGGCTGCTGACGGAGGAGATCAGGTCTCGGGCAGTGGGTTTCCTGGAAATAG
Seq A exon
GGTACCAGAAGGAGCTGATGTACAAACACAGCAATGGCTCATACAGTGCCTTTGGGGAGCGAGATGGAAATGGAAACACATG
Seq C2 exon
GCTGACAGCGTTTGTCACAAAATGCTTTGGCCAAGCTCAGAAATTCATCTTCATTGATCCCAAGAACATCCAGGATGCTCTCAAGTGGATGGCAGGAAACCAGCTCCCCAGTGGCTGCTATGCCAACGTGGGAAATCTCCTTCACACAGCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'37-40,'37-39,38-40=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=0.000
Domain overlap (PFAM):
C1:
PF105694=Thiol-ester_cl=WD(100=51.7),PF076789=A2M_comp=PU(0.4=1.7)
A:
PF076789=A2M_comp=FE(11.0=100)
C2:
PF076789=A2M_comp=FE(21.1=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:
CTGACGGAGGAGATCAGGTCT
R:
TTTCCCACGTTGGCATAGCAG
Band lengths:
181-263
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains