HsaEX6065044 @ hg38
Exon Skipping
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8841369-8845502:+
Coord C1 exon
chr12:8841369-8841536
Coord A exon
chr12:8843134-8843361
Coord C2 exon
chr12:8845442-8845502
Length
228 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTCTTTTATTCTCAGGGA
3' ss Score
10.56
5' ss Seq
TATGTGAGA
5' ss Score
1.04
Exon sequences
Seq C1 exon
ATAAGAGTTAGGGGCCATGATGACTCCTTCCTCAAGAACCATCTAGTGTTTCTGGTGATTTATGGCACAAATGGAACCTTCAACCAGACCCTGGTTACTGATAACAATGGCCTAGCTCCCTTTACCTTGGAGACATCCGGTTGGAATGGGACAGACGTTTCTCTGGAG
Seq A exon
GGAAAGTTTCAAATGGAAGACTTAGTATATAATCCGGAACAAGTGCCACGTTACTACCAAAATGCCTACCTGCACCTGCGACCCTTCTACAGCACAACCCGCAGCTTCCTTGGCATCCACCGGCTAAACGGCCCCTTGAAATGTGGCCAGCCCCAGGAAGTGCTGGTGGATTATTACATCGACCCGGCCGATGCAAGCCCTGACCAAGAGATCAGCTTCTCCTACTAT
Seq C2 exon
TTAATAGGGAAAGGAAGTTTGGTGATGGAGGGGCAGAAACACCTGAACTCTAAGAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535-'16-22,'16-16,17-22=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF077039=A2M_N_2=PU(26.2=51.3)
C2:
PF077039=A2M_N_2=FE(13.4=100)
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:
TAAGAGTTAGGGGCCATGATGACT
R:
CTTTCTTCTTAGAGTTCAGGTGTTT
Band lengths:
228-456
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains