HsaINT0000054 @ hg19
Intron Retention
Gene
ENSG00000175899 | A2M
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:7]
Coordinates
chr12:9261917-9262631:-
Coord C1 exon
chr12:9262463-9262631
Coord A exon
chr12:9262002-9262462
Coord C2 exon
chr12:9261917-9262001
Length
461 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGG
5' ss Score
5.53
3' ss Seq
TCTTTATCACCAATCAACAGTTC
3' ss Score
4.56
Exon sequences
Seq C1 exon
GATCCCAAAGGAAATCGCATCGCACAATGGCAGAGTTTCCAGTTAGAGGGTGGCCTCAAGCAATTTTCTTTTCCCCTCTCATCAGAGCCCTTCCAGGGCTCCTACAAGGTGGTGGTACAGAAGAAATCAGGTGGAAGGACAGAGCACCCTTTCACCGTGGAGGAATTTG
Seq A exon
GTATGGATCATGAAAAGTCATCAAGCATTATTTTTCTTCATATTTAAACTCTTAGGTCCTGGAATTTAAGTTCATTTGGAGTCTTTCCATTTCCCATGGGTGACATTGGGCTTGGAGTAGAATTAATTACACCTAAGTCCAATGAGGACATCAGTGATCTGTGAATAGGACTTCACATAGCTTCGTTATTTTCTGTAGCAATATTTAATACCAACCCCCAAAATTAAAACATTCTTGTTTTAATGGAGTTTTCCATAATTAATTAAGCACACAGTGATCTCTCATAGTCCCTCAACTGAAATCTTCATTTGAGAGGAGGATAGATAAGAATAGATTGGAGAGCAGAGCTACCTTTTCAGAGCCCTAAAATATTATTAGGGAACTGTTACAGGGAACCTGAAAATAGGAATTCCCCCAAAGTTGAAAACCAATCACCAACCTTCTTTATCACCAATCAACAG
Seq C2 exon
TTCTTCCCAAGTTTGAAGTACAAGTAACAGTGCCAAAGATAATCACCATCTTGGAAGAAGAGATGAATGTATCAGTGTGTGGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899-A2M:NM_000014:6
Average complexity
IR-S
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:
PF0183514=A2M_N=PD(55.3=91.2)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAAGGAAATCGCATCGCAC
R:
AGGCCACACACTGATACATTCA
Band lengths:
250-711
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)