HsaEX0030281 @ hg38
Exon Skipping
Gene
ENSG00000122566 | HNRNPA2B1
Description
heterogeneous nuclear ribonucleoprotein A2/B1 [Source:HGNC Symbol;Acc:HGNC:5033]
Coordinates
chr7:26189927-26192577:-
Coord C1 exon
chr7:26192495-26192577
Coord A exon
chr7:26190993-26191128
Coord C2 exon
chr7:26189927-26190460
Length
136 bp
Sequences
Splice sites
3' ss Seq
TTTCCCTGCCGGAATTTTAGCAT
3' ss Score
5.09
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
GAAACTATGGTCCAGGAGGCAGTGGAGGAAGTGGGGGTTATGGTGGGAGGAGCCGATACTGAGCTTCTTCCTATTTGCCATGG
Seq A exon
CATTGATATGAACCATGGACAAGTATATTCTGCTGCCACAAAGACTGTAAAGTGCTTCATTTCAACAGCTGAGGCAAGCCAAGTGATCATTAATAAAGCTTTTCTTGGTTCCTTCAGTGGTGTTGGTAGTAAAATG
Seq C2 exon
GAAGGTGTCTTGCTGCAGGTAACTAATGAAGAAGTGGTCAACCACAGAGTCTTCAAGAAATAAGAAATTCTGTACCATCTGAAAGTAGTTCTTGTTGGTGCCTTCATTTAAAAAGCACTCTTTAAAATAAAAGGGAAATGTTTTCTGATAAAACAAACATTTAGTTGAGGTTCTTGATATAAAACAATTACAAAATGAGTGTTGTTTGTAAAACAGTAACATCAAATTGGCTAGAGAGATAAATGTATCATGTTTTAAATTAGGTTTTGTGAGTAGACAGATTACAATTCTATTTTAAATATAAAGTTTATAAAATAAATACTTTTTGTATCCAAATACTTGGTGTAATGTTTACACATAAAATGTGTGAATCTTGTTCTATAAATATTTGGTTGTCTAAAAGATCACCATCCCCTAAATTTTTAAAAGCAGTTTCACAAAGCTATGCATATTTTAATATTAACAGGTAAATGAGAAGAGCATTGTGGACATTATTGGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122566-'42-59,'42-56,51-59
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
3' UTR
No structure available
Features
Disorder rate (Iupred):
C1=0.950 A=NA C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
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:
ACTATGGTCCAGGAGGCAGTG
R:
TCAAGAACCTCAACTAAATGTTTGT
Band lengths:
257-393
Functional annotations
There are 2 annotated functions for this event
PMID: 20946641
By UPF1 KD proteomics, HNRNPA2B1 is upregulated. This event and the associated ones (retained intron downstream) are regulated by HNRNPA2B1 itself.
PMID: 31911676
[CRISPR screen]. Conserved poison exon with negative fitness/survivability impact when depleted: HeLa No Change at 14 days (FC=0.987, FDR=0.857), PC9 Depleted at 14 days (FC=0.773, FDR=0.001), Late Xenograft No change (FC=1.071, FDR=0.618).
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