HsaINT0000045 @ hg19
Intron Retention
Gene
ENSG00000175899 | A2M
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:7]
Coordinates
chr12:9225249-9227379:-
Coord C1 exon
chr12:9227156-9227379
Coord A exon
chr12:9225468-9227155
Coord C2 exon
chr12:9225249-9225467
Length
1688 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
3' ss Seq
CACTCATCTGTCTCTAACAGGAC
3' ss Score
10.47
Exon sequences
Seq C1 exon
ACAACTCTGTCCATTGGGAGCGCCCTCAGAAACCCAAGGCACCAGTGGGGCATTTTTACGAACCCCAGGCTCCCTCTGCTGAGGTGGAGATGACATCCTATGTGCTCCTCGCTTATCTCACGGCCCAGCCAGCCCCAACCTCGGAGGACCTGACCTCTGCAACCAACATCGTGAAGTGGATCACGAAGCAGCAGAATGCCCAGGGCGGTTTCTCCTCCACCCAG
Seq A exon
GTTGGTGATTTGCCAAAACCTTTTATTTCACCTTCAGGTAGCAAAAGATTTGAATGAAAAAGAAACAAACACATCCAAGAAGAAAAAAATACAGATGACAGTAACTTGAAATGAGGAAAAGTTTTCAGTATCCAAGGATAATGGAAATAAAAGCAAATCAAAGTCAAAGAGGGCCAAAAGGAAATGCTCAGAATCCCGGCACCCCATCGCTGTGTTATTATCCATCTCCTATTTCCCATAACAACACTGCCTTCCTCAAGCAGCAGTGGAGCACCAGCAGAATGAAGGAGATGTCTCCTGCCATTCTCCTGAAAGCTCTAGGGTCTCTTTCAAACTGTTCAAAGGAACTCTACTCAAAATCCAACAACCTCTCCTCGCAAATCTCTCCATTCTTAGGTCCCCTTTAATAGGCTTTTCTCAAAACTACACATTTTGTGCTTCCCCTATTCACCTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCTAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTAGTGCCTCAGCCTCCCAAGTATCTAGGATTACAGTCATGTGCAATCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTTGCCATGTTGCCCAGGCTGATCTCGAAGTCCTGAGCTCAGGCAATCCATCCGCCTTGGCCTCACAAAGTGCTAGGATTATAGGTGTGAGCCACTGCGTCCAGCCCCCTATTCACCTCTTAATACACAAACATTTATTCATCAGGAGCATAAAGAACTGTCTTTATTCATCCAACCTCCTAAATCTAGCTATATAACCATGTATCTGAACAATTCATTGATATGTACACAGCAGAAAGTTTTATCTTCAGAGAATTCGGATGTTTGCTTATATACCCTAAAACGGAAAAAATGTGACAAAATGGCATTCCATCCTATTTCCATTGTATTAATCTTTTATCATATGAATGAAAAAAACTAAGTAATTTTGTTAAAGGTTATCATTCATTTATTAGAAACATATTATTTGAAGGAGGCCAAGCAGGTTTAATGTTGTTGAGGATACATACCAGCAGACATTCACTGGGAACAGGAAATCATCCAATAAAAAGGGAAAGCCAAATAAAAATGTCATTAAATCCAGAAGATAATTATAATACTCATCTTTTATTTCTTTTGGAGAAACTGAAGCATGACTCTGCTCATGGCTGCAAAGAACCTTGGGTTCTCTCCAGGACACTGACCTCAGCAACTGAGCAAAGTTTAATATGGGAGAGAGCCAGACTGAACTTTGCTTGAGTGGTGGCAGATATGAGCATAGTTGTCAAGAAAGACATGTTAGCAAATAGCTGATGCCAATAACTGATTGCCATTCACATGTTTTCCACATTCCATGTCCCACATATACTTACAGAGAGAAAAGGATCAATTTTCTGATAAATAAAATAAACATGTAGGGCATACAGTCCAAGGTAGATATGTGAATGTTATGGTTCTTCAACTATCTAAAGATTATAATCAATCTTGAAATTACAGCTCCTATATTTAAGTAGTGAGGGAAGTAGGAAATCAAAGTCCCTCACATGGGTCTTTGAAAAATATCTCAGCCCTCAAAGCCTTATAATGCCCAATGGGTTCTCTCACTCATCTGTCTCTAACAG
Seq C2 exon
GACACAGTGGTGGCTCTCCATGCTCTGTCCAAATATGGAGCAGCCACATTTACCAGGACTGGGAAGGCTGCACAGGTGACTATCCAGTCTTCAGGGACATTTTCCAGCAAATTCCAAGTGGACAACAACAACCGCCTGTTACTGCAGCAGGTCTCATTGCCAGAGCTGCCTGGGGAATACAGCATGAAAGTGACAGGAGAAGGATGTGTCTACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899-A2M:NM_000014:29
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.267 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF076789=A2M_comp=FE(28.8=100)
A:
NA
C2:
PF076789=A2M_comp=PD(5.1=17.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGCATTTTTACGAACCCCA
R:
CTCTGGCAATGAGACCTGCTG
Band lengths:
343-2031
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)