HsaINT0000068 @ hg38
Intron Retention
Gene
ENSG00000166535 | A2ML1
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8851784-8852336:+
Coord C1 exon
chr12:8851784-8852012
Coord A exon
chr12:8852013-8852209
Coord C2 exon
chr12:8852210-8852336
Length
197 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
3' ss Seq
CTCTTAAACATCCTCCGTAGGTT
3' ss Score
8.22
Exon sequences
Seq C1 exon
TAACTCGGGGAAGGAGGCGGTCCACGTCACAGTTCCTGACGCCATCACCGAGTGGAAGGCGATGAGTTTCTGCACTTCCCAGTCAAGAGGCTTCGGGCTTTCACCCACTGTTGGACTAACTGCTTTCAAGCCGTTCTTTGTTGACCTGACTCTCCCTTACTCAGTAGTCCGTGGGGAATCCTTTCGTCTTACTGCCACCATCTTCAATTACCTAAAGGATTGCATCAGG
Seq A exon
GTGAGAGCTGGGGATACAGGAATCAGGTGTCAGCCCTGGAATCACACCTCCCCCATAAGTTTGTCTCTAAATTGGAAGCATCCCAATTTTCCCTGGGAAAGAGAGGAGATGTCGGCGTCTCAGCCCCCAGGTTTCCCCAGGCCTCTATGCACTACCTCCTTTGTTTGTACCCTTTGTCTCTTAAACATCCTCCGTAG
Seq C2 exon
GTTCAGACTGACCTGGCTAAATCGCATGAGTACCAGCTAGAATCATGGGCAGATTCTCAGACCTCCAGTTGTCTCTGTGCTGATGACGCAAAAACCCACCACTGGAACATCACAGCTGTCAAATTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535:ENST00000299698:19
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:
PF0020717=A2M=FE(83.5=100)
A:
NA
C2:
PF0020717=A2M=PD(4.4=9.3)
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:
GGAAGGCGATGAGTTTCTGCA
R:
AGCACAGAGACAACTGGAGGT
Band lengths:
257-454
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development