HsaEX6065027 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8863794-8868357:+
Coord C1 exon
chr12:8863794-8864008
Coord A exon
chr12:8867842-8868057
Coord C2 exon
chr12:8868230-8868357
Length
216 bp
Sequences
Splice sites
3' ss Seq
CGTTTGGTTGTTTCCCTCAGGAT
3' ss Score
9.17
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GAGAATCCATTTACTGGAGCCAGAAACCTACTCCATCATCGAACGCCAGCCCTTGGTCTGAGCCTGCGGCTGTAGATGTGGAACTCACAGCATATGCATTGTTGGCCCAGCTTACCAAGCCCAGCCTGACTCAAAAGGAGATAGCGAAGGCCACTAGCATAGTGGCTTGGTTGGCCAAGCAACACAATGCATATGGGGGCTTCTCTTCTACTCAG
Seq A exon
GATACTGTAGTTGCTCTCCAAGCTCTTGCCAAATATGCCACTACCGCCTACATGCCATCTGAGGAGATCAACCTGGTTGTAAAATCCACTGAGAATTTCCAGCGCACATTCAACATACAGTCAGTTAACAGATTGGTATTTCAGCAGGATACCCTGCCCAATGTCCCTGGAATGTACACGTTGGAGGCCTCAGGCCAGGGCTGTGTCTATGTGCAG
Seq C2 exon
ACGGTGTTGAGATACAATATTCTCCCTCCCACAAATATGAAGACCTTTAGTCTTAGTGTGGAAATAGGAAAAGCTAGATGTGAGCAACCGACTTCACCTCGATCCTTGACTCTCACTATTCACACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'46-52,'46-48,48-52
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.083 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF076789=A2M_comp=FE(28.9=100)
A:
PF076789=A2M_comp=PD(5.3=18.1)
C2:
NO
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:
CCTACTCCATCATCGAACGCC
R:
AGGATCGAGGTGAAGTCGGTT
Band lengths:
295-511
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains