HsaINT1000006 @ hg38
Intron Retention
Gene
ENSG00000175899 | A2M
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Coordinates
chr12:9098607-9099523:-
Coord C1 exon
chr12:9099381-9099523
Coord A exon
chr12:9098757-9099380
Coord C2 exon
chr12:9098607-9098756
Length
624 bp
Sequences
Splice sites
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
3' ss Seq
CTTTTGTTCCAATTTCACAGGTG
3' ss Score
10.35
Exon sequences
Seq C1 exon
TGAAGGGCCATTTTTCCATCTCAATCCCTGTGAAGTCAGACATTGCTCCTGTCGCTCGGTTGCTCATCTATGCTGTTTTACCTACCGGGGACGTGATTGGGGATTCTGCAAAATATGATGTTGAAAATTGTCTGGCCAACAAG
Seq A exon
GTGTGTGTTTTAGATCATAAAATCTTCAACATGTAAAACTAGAAGTTACTATTGTTATCATTTGTTTTACACATGTGAACATTAGGGCCAAAAGGGTTAAACAAATTCCCCAGAGACATTCAGCAAGGTAGTGGCAGAGTCACACTAAGAAGCAGAATCACTTGATTCCTTATACAAAACTCTCAAACTTCTCCTAGCAGTGCCTCTTACCAATTACACAGTTCAGAGTATGTTATTCCCTTCTTCTATGATGAAACGTTGGGAAATATGTAAGCAAGTTTTTAAGACTACTAAGGAGCCAAAAGAAAAATGCAAGAGCACCTAGACCCATGCATGTCCCACCACAATTAATGAGCACCTTGCCGTGTATCAAAGATAAAAATGGCATTTCATGACTAGTAATTTATAAGAATAATTAGAAATAATTCTACTGGCTCAAGTGATTCTTGAGAATGAAAGAGAAGTGTAGGGAACAAAAAGCTTCAGGATTGACACAATGCCAACCCTCCACGAAGTCAAGCAGAGTGGTTATACATTGTACATGAGGAACACTCTGCAAATGCGAGTGAATGCATGGGTAAACCTGGAAATTTGCTTTTCTGACCTTTTGTTCCAATTTCACAG
Seq C2 exon
GTGGATTTGAGCTTCAGCCCATCACAAAGTCTCCCAGCCTCACACGCCCACCTGCGAGTCACAGCGGCTCCTCAGTCCGTCTGCGCCCTCCGTGCTGTGGACCAAAGCGTGCTGCTCATGAAGCCTGATGCTGAGCTCTCGGCGTCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899:ENST00000318602:14
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=0.020
Domain overlap (PFAM):
C1:
PF077039=A2M_N_2=FE(31.5=100)
A:
NA
C2:
PF077039=A2M_N_2=PD(26.2=78.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAGGGCCATTTTTCCATCTCA
R:
GCCGAGAGCTCAGCATCAG
Band lengths:
286-910
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains