Special

HsaINT0000034 @ hg38

Intron Retention

Gene
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Coordinates
chr12:9090356-9091429:-
Coord C1 exon
chr12:9091201-9091429
Coord A exon
chr12:9090483-9091200
Coord C2 exon
chr12:9090356-9090482
Length
718 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGG
5' ss Score
10.17
3' ss Seq
TTTCTTATGTGTGGTTTCAGGTC
3' ss Score
10.69
Exon sequences
Seq C1 exon
CTCAGCAGGTGTGGCTGAGGTAGGAGTAACAGTCCCTGACACCATCACCGAGTGGAAGGCAGGGGCCTTCTGCCTGTCTGAAGATGCTGGACTTGGTATCTCTTCCACTGCCTCTCTCCGAGCCTTCCAGCCCTTCTTTGTGGAGCTCACAATGCCTTACTCTGTGATTCGTGGAGAGGCCTTCACACTCAAGGCCACGGTCCTAAACTACCTTCCCAAATGCATCCGG
Seq A exon
GTAAGGATCTCTTTCCTAAATTAAATACAAGGTAGCCATCAAGTAAATTAAAAGTTGCATTCCTAGGAATACTGCAAACTCTTGTATGCAAAATATGCTTACTAGATATTCATGATTGTAAAAGTTACAGGTTTTGAGATCTCCAAATACCAAATTGCACCATAAAGCAAGTTTCTAGCCCTTATAACCCTTCAAAGTTAGTATTTGTGTGGTATGAAGAATTCTGACAGGGGTGACAAAAGTCAGTACTCTATTCTCATGACAGATTCTACAAGGTTTCAACCTCTACGATCTCATATATTTAACTTTTCGTAGCTCATTCATTATATTAAACCTAATTTTAAAAGTCGTTTGTGAGCATCTTACCTTTGCTGAAACCATAACTGTTTATAAGTCTTGTATCCTCTGCCGGGAGATCCGGGGGAATGGTCAAAGTTCCAGACCAAAGAGGTAGAGCAGCATGCCATCATTACCTTTCCCTTCCTCTGGTCCCATCATGTGAAAGAGCAGGTTGCTTCCAAAATAACTCAGATTTACCTGTGTAAATCTGATACATTAAGATCCACTTAAATATATTTCAGGTACTTGATCTTCATTTATATCATCTTTAATGTGAGGCAACCTGAAATCTAACCAATTCCTCAAGATGCTTTACTTCAAACCCATTCTCCCTCTGTTCTCCTTCCCTCTCTACTCCCTTTCTTATGTGTGGTTTCAG
Seq C2 exon
GTCAGTGTGCAGCTGGAAGCCTCTCCCGCCTTCCTAGCTGTCCCAGTGGAGAAGGAACAAGCGCCTCACTGCATCTGTGCAAACGGGCGGCAAACTGTGTCCTGGGCAGTAACCCCAAAGTCATTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899:ENST00000318602:19
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTGGCTGAGGTAGGAGTA
R:
AATGACTTTGGGGTTACTGCC
Band lengths:
347-1065
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