HsaINT0000074 @ hg38
Intron Retention
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8857164-8857588:+
Coord C1 exon
chr12:8857164-8857340
Coord A exon
chr12:8857341-8857506
Coord C2 exon
chr12:8857507-8857588
Length
166 bp
Sequences
Splice sites
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
3' ss Seq
AACCACATTTGGCTTCCCAGGGT
3' ss Score
5.5
Exon sequences
Seq C1 exon
GAGACATTATGGGCACAGCCCTGCAGAACCTGGATGGTCTGGTGCAGATGCCCAGTGGCTGTGGCGAGCAGAACATGGTCTTGTTTGCTCCCATCATCTATGTCTTGCAGTACCTGGAGAAGGCAGGGCTGCTGACGGAGGAGATCAGGTCTCGGGCAGTGGGTTTCCTGGAAATAG
Seq A exon
GTAAGTTGGTTCAGTCTTTCTTTCTTGAACACTCTCCTCCACTAGGCCCTATGACAGATTGATGATACAGGGAATTCCAGCCCCTCAAGTGTCCCATATCCTTGAACGGCATGGGGGTGTTTTCTGAAGTTGTCGCTGTGATCTAAAACCACATTTGGCTTCCCAG
Seq C2 exon
GGTACCAGAAGGAGCTGATGTACAAACACAGCAATGGCTCATACAGTGCCTTTGGGGAGCGAGATGGAAATGGAAACACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535:ENST00000299698:24
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF105694=Thiol-ester_cl=WD(100=51.7),PF076789=A2M_comp=PU(0.4=1.7)
A:
NA
C2:
PF076789=A2M_comp=FE(11.0=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
CACAGCCCTGCAGAACCTG
R:
TGTTTCCATTTCCATCTCGCTCC
Band lengths:
242-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development