HsaINT0000030 @ hg19
Intron Retention
Gene
ENSG00000175899 | A2M
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:7]
Coordinates
chr12:9248135-9251352:-
Coord C1 exon
chr12:9251203-9251352
Coord A exon
chr12:9248297-9251202
Coord C2 exon
chr12:9248135-9248296
Length
2906 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
3' ss Seq
TGTCTTTCGTATTTGTACAGGTT
3' ss Score
8.36
Exon sequences
Seq C1 exon
GTGGATTTGAGCTTCAGCCCATCACAAAGTCTCCCAGCCTCACACGCCCACCTGCGAGTCACAGCGGCTCCTCAGTCCGTCTGCGCCCTCCGTGCTGTGGACCAAAGCGTGCTGCTCATGAAGCCTGATGCTGAGCTCTCGGCGTCCTCG
Seq A exon
GTGAGTTCCTGGCAGCCTCAGGAATCAAGAAGGGCCGTGCCAGGGGCTCAGAGCAAGGAAAAATGACTGGATAAGTAGGATAAGATCAATTAAAATTATATTTATCTAGGAATTAATTGCTTTGAGCTCTCTTGTGGGCTTTCATTGGTAAGGAATTATATATATATATATATATAACTACTCACTTCTGCAGTTAAAAAAATAAACAAAATACAATATATTGAATCAAATAAAAGAATTTTTAAAAGGACAAAATGTGATGAAAATTAACAACCAAAAAAGGACTCGTTATTCAGACACGTTAAGCTTCTTGCTCAAGAGCACATAGCAATACAAATTCAAATCTTCTGATTGTGTCAGGACATCCGTATATGCAAGGCTGGAGAGAATACAGAGCAGATTGTGAAAAGTGCTATATGAGAAGTGCAGTTATGCAAAATAAAAGAAAGGATTAACTGAGCAACCGGGGAAGCCGTTCGAAAATTATATATTTAAAATGTAAAAAGACCATACAGTACCCAAAGTCCTTAAAATCCCAGAGCTCCATGCAACCAGTAATAGGAGTTGTCAAACTAGTTTCAACATTTCAAAAAGCCTAACAAAAGTGATACATATACCTGCACTGAGGCTATACAGGCTAAATGAAATATCAGATTTCCGTTTTTATAAGAATTATGGCTGGGCCTGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCCAAGGCAGGCAGATAACTTGAGATCAGGAGTTTGAGACCAGTCTGGCCAATATAATGAAACCCCGTATCTACTAAAAATACAAAAATTAGTCAGACGTGGTGGCGGGCGCCTGTCATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGAGCAAGACTTGGTGTCAAAAAAAAAAAAAAAAAAAGAATTACATCAGTTGAAATAATTGCTGTCCCAAGCTACACATAATTTCTGAGGGAACATATGTATTATCTCTGAGGAACAAAACTTAGGGAAATTGAACTACTATATAATTGACATTGATAACTGAACTCTTTGAAAATATGGAGCTAATAGAAGAAATACCAAAAGGATATGCTGAATTGGAACAACAAAAACTAGTTAATAGCATGTACTAATAGTAGTTTGCTCACATCTTCAAATTTTTAATATGAGACCAATTGTAATAACCTCTTACTGAAGCTTTTTCTACTACCATAATTTAACAAAGAGAAATTTATATTTTTATTTTCCTGAAATAGAAACTTATAAAAAAATGTTTCTTACTTGTTTGTCCTTCTAATGGGATTTTAACTGAAAATATTAGAATACTTCTAAAGGAAGCATCAAGTACATTTCAACAGTAGGATCTCAAGAGGATATGTGGGAAAATAATATACATGTTTTATACTTTTATAATATAATTTTATAATTCTCAAAGAATTTTTCAAATTATAACAACCCTGATGGGTAGATAAGGCAGACAGTCCTATTTATTAATAATAAAGCAGAAGCTTTCAGGGATTTAGTAGTAGACCTGAGTTAAAACACCAACTCTTCTCAAGCTTTGATTAGTGTCTTACCAATGAAACACTTTGCTGCTACTAGTGTAGGTCATTCATTCAACACATTTATTTAATGCCCACTGTGTTCTAGGTATTATACTAAGTGCTAGTAGAGATCAAGCAGTGAGCTACTGGAAAGATAAAAATGTATGTCTCATGGAACTTACATTGTCTGTCCCATAGATGAGACAGACAATAATTATGCAATATGCCACAATAAAAGCAGGGAGAGGAAATGAGAAATGTTAAGATACTTTGAGAAAGTGTCTAATTTCATCACACCACTCACTTTGCTCATCTGTTCTTGTCAATCAGTTTTAAACTCCTACGAATATAATGCAATGTAACTATCACAATTTTTATGTCTGTCTTACTTCTCACCTTCAAATGGACTTGAAAGCATCATGCCTAGAATTTTACGGTTAAAGTTGTATGTATTATATGAAGATCTGGAGCATTTTGTTTCCACTAATAATACCTAAGAAAATGCCATCGTGTCCTGTGGAGAGAGGATATTCCTATTCGTGTGCCTGTTTAGAACATGCACCCATTAACTTTGCTATATACTGAGTCAGTTGCTCACCACAAGATAAGCACAAAACTATCATTTCCTTCTATCATCTCAAAGCTTTGTGCAATGTCACAAATACAGCAGACCTCGATTTTTCAATTAATAAAGTTTTATTTCATTCCAGTGTTGAGTCTAGTGGTGGCCTCTGAACTGTGTAACGAAGTAGTACTTAGTACTTAGATGAGTACTTAGATGGAGTGTTTGGTTTTTCCTAAAATTGTTAAACATCTTCAAAATGAAAACACTGTGTCAAGAAAATGATCCATACCCTCTATAAATCATCAAAGCAATGAGAGCGCTCAAAGAAAGACGGATGTTCATTATTCCTGTTCTTTTCTCCTTGAACTTAAAAAATGTCACAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCGGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCACAAATAAGTTTGCCTTTTTGTCTTTCGTATTTGTACAG
Seq C2 exon
GTTTACAACCTGCTACCAGAAAAGGACCTCACTGGCTTCCCTGGGCCTTTGAATGACCAGGACAATGAAGACTGCATCAATCGTCATAATGTCTATATTAATGGAATCACATATACTCCAGTATCAAGTACAAATGAAAAGGATATGTACAGCTTCCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899-A2M:NM_000014:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=NA C2=0.167
Domain overlap (PFAM):
C1:
PF077039=A2M_N_2=PD(26.2=78.0)
A:
NA
C2:
PF077039=A2M_N_2=PD(21.7=83.3)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)