HsaEX0030282 @ hg19
Exon Skipping
Gene
ENSG00000122566 | HNRNPA2B1
Description
heterogeneous nuclear ribonucleoprotein A2/B1 [Source:HGNC Symbol;Acc:5033]
Coordinates
chr7:26232871-26235529:-
Coord C1 exon
chr7:26235467-26235529
Coord A exon
chr7:26233195-26233314
Coord C2 exon
chr7:26232871-26232993
Length
120 bp
Sequences
Splice sites
3' ss Seq
AAAGGCTTATTTTATAATAGGTG
3' ss Score
4.94
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
ATGGATATGGCAGTGGACGTGGATTTGGGGATGGCTATAATGGGTATGGAGGAGGACCTGGAG
Seq A exon
GTGGCAATTTTGGAGGTAGCCCCGGTTATGGAGGAGGAAGAGGAGGATATGGTGGTGGAGGACCTGGATATGGCAACCAGGGTGGGGGCTACGGAGGTGGTTATGACAACTATGGAGGAG
Seq C2 exon
GAAATTATGGAAGTGGAAATTACAATGATTTTGGAAATTATAACCAGCAACCTTCTAACTACGGTCCAATGAAGAGTGGAAACTTTGGTGGTAGCAGGAACATGGGGGGACCATATGGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122566_MULTIEX2-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.955 A=0.780 C2=0.762
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGATATGGCAGTGGACGTG
R:
CCCCCATGTTCCTGCTACCA
Band lengths:
171-291
Functional annotations
There are 1 annotated functions for this event
PMID: 20406423
This event
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
- 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)