HsaEX0030279 @ hg38
Exon Skipping
Gene
ENSG00000122566 | HNRNPA2B1
Description
heterogeneous nuclear ribonucleoprotein A2/B1 [Source:HGNC Symbol;Acc:HGNC:5033]
Coordinates
chr7:26197622-26200746:-
Coord C1 exon
chr7:26200572-26200746
Coord A exon
chr7:26197831-26197866
Coord C2 exon
chr7:26197622-26197732
Length
36 bp
Sequences
Splice sites
3' ss Seq
AGTTTTTTTTTTCCCCCCAGAAA
3' ss Score
10.14
5' ss Seq
AAGGTACTC
5' ss Score
7.46
Exon sequences
Seq C1 exon
AGTAGCAGCAGCGCCGGGTCCCGTGCGGAGGTGCTCCTCGCAGAGTTGTTTCTCGAGCAGCGGCAGTTCTCACTACAGCGCCAGGACGAGTCCGGTTCGTGTTCGTCCGCGGAGATCTCTCTCATCTCGCTCGGCTGCGGGAAATCGGGCTGAAGCGACTGAGTCCGCGATGGAG
Seq A exon
AAAACTTTAGAAACTGTTCCTTTGGAGAGGAAAAAG
Seq C2 exon
AGAGAAAAGGAACAGTTCCGTAAGCTCTTTATTGGTGGCTTAAGCTTTGAAACCACAGAAGAAAGTTTGAGGAACTACTACGAACAATGGGGAAAGCTTACAGACTGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122566-'0-8,'0-5,9-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.350 A=0.833 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF142591=RRM_6=PU(40.0=75.7)


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCTCTCTCATCTCGCTCGGC
R:
TGGTTTCAAAGCTTAAGCCACCA
Band lengths:
116-152
Functional annotations
There are 1 annotated functions for this event
PMID: 20406423
The inclusion of exon 2 (HsaEX0030279) and exon 9 (HsaEX0030282) generates a predominantly nuclear form, skipping of the exons generates cytosolic forms. The study shows, using isoform-specific antibodies and isoform-specific green fluorescent protein (GFP)-fusion expression constructs, that A2b is the predominant cytoplasmic isoform in neural cells, suggesting that it may play a key role in mRNA trafficking. The differential subcellular distribution patterns of the individual isoforms are determined by the presence or absence of alternative exons that also affect their dynamic behavior in different cellular compartments, as measured by fluorescence correlation spectroscopy. Expression of A2b is also differentially regulated with age, species and cellular development. Furthermore, coinjection of isoform-specific antibodies and labeled RNA into live oligodendrocytes shows that the assembly of RNA granules is impaired by blockade of A2b function. These findings suggest that neural cells modulate mRNA trafficking by regulating alternative splicing of hnRNP A2/B1 and controlling expression levels of A2b, which may be the predominant mediator of cytoplasmic-trafficking functions. B1: inclusion of both. A2: skipping of ex 2. B1b: skipping of ex 9. A2b: skipping of both. Not well in VTS in hg38 nor mm10.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development