Special

HsaINT0000049 @ hg38

Intron Retention

Gene
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Coordinates
chr12:9069745-9070578:-
Coord C1 exon
chr12:9070488-9070578
Coord A exon
chr12:9069814-9070487
Coord C2 exon
chr12:9069745-9069813
Length
674 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
3' ss Seq
GGTATTTCAATTTTCTTCAGCTT
3' ss Score
5.23
Exon sequences
Seq C1 exon
TTACACAGGGAGCCGCTCTGCCTCCAACATGGCGATCGTTGATGTGAAGATGGTCTCTGGCTTCATTCCCCTGAAGCCAACAGTGAAAATG
Seq A exon
GTAGGTTTATCATAACCCCAGACTGCCCTATTTTATTTAATGATGTATGTATCCCCAGCATAAGACAATACTAATATCAAAATACTATTAAAGTCAATCTCTATCAAAGCCTTATCCTTTTTCCAGCTCAGAAATATAATCACATGTGTTTGTATGAATGCTGACCATGTGCAGAGCACTGTGCTAGGACCCATGACTACAAGAAAAAGATTGTCAGCAGGTTCCTGCTTTTCAATTTCTTCTTAGCTTAGAATTTTGCTAAGAAGATAAAAGATATGAACACGAACCAGTGAAAAATATGAAAATGACTGATTGGCATAAACTATAAGTATTACAGAAGTTAAAAGAAAAATAGAGCAAGCAAAACAGGAAAAAAACTCCTTATGAAGAAATAGAAACTGAATTGAACTTTGAAATATGAGTAACTACCAAGTTTAGGATACTTAGCTGTCTTTTCTTCAGATAAATAACTTTACACATTAGTCGTGTGTTATACTAATAGTAAACCCTTTATGCCTTTCATTTTTAATTGTATTACATTATATATTTCCTTACAAAAAGCATTTGAAGAATTCTACCCTCAGGGTTATTTTGGCAATACAAAGATTTTTTCTCTGGATCCCCCAGGGGTTTCATCTATTTATTAACATTTGTGGTATTTCAATTTTCTTCAG
Seq C2 exon
CTTGAAAGATCTAACCATGTGAGCCGGACAGAAGTCAGCAGCAACCATGTCTTGATTTACCTTGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899:ENST00000318602:32
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=0.087
Domain overlap (PFAM):

C1:
PF076779=A2M_recep=PU(25.0=71.0)
A:
NA
C2:
PF076779=A2M_recep=FE(25.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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:
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