HsaEX6065026 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8867842-8868627:+
Coord C1 exon
chr12:8867842-8868057
Coord A exon
chr12:8868230-8868357
Coord C2 exon
chr12:8868537-8868627
Length
128 bp
Sequences
Splice sites
3' ss Seq
TACCTATTTCTTCCTACCAGACG
3' ss Score
8.41
5' ss Seq
CAGGTGATT
5' ss Score
5.95
Exon sequences
Seq C1 exon
GATACTGTAGTTGCTCTCCAAGCTCTTGCCAAATATGCCACTACCGCCTACATGCCATCTGAGGAGATCAACCTGGTTGTAAAATCCACTGAGAATTTCCAGCGCACATTCAACATACAGTCAGTTAACAGATTGGTATTTCAGCAGGATACCCTGCCCAATGTCCCTGGAATGTACACGTTGGAGGCCTCAGGCCAGGGCTGTGTCTATGTGCAG
Seq A exon
ACGGTGTTGAGATACAATATTCTCCCTCCCACAAATATGAAGACCTTTAGTCTTAGTGTGGAAATAGGAAAAGCTAGATGTGAGCAACCGACTTCACCTCGATCCTTGACTCTCACTATTCACACCAG
Seq C2 exon
TTATGTGGGGAGCCGTAGCTCTTCCAATATGGCTATTGTGGAAGTGAAGATGCTATCTGGGTTCAGTCCCATGGAGGGCACCAATCAGTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'48-53,'48-52,49-53
Average complexity
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:
PF076789=A2M_comp=PD(5.3=18.1)
A:
NO
C2:
PF076779=A2M_recep=PU(25.0=71.0)
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:
TGCCATCTGAGGAGATCAACCT
R:
AACTGATTGGTGCCCTCCATG
Band lengths:
254-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains