HNRNPAB

heterogeneous nuclear ribonucleoprotein A/B, the group of Heterogeneous nuclear ribonucleoproteins|RNA binding motif containing|Spliceosomal A complex

Basic information

Region (hg38): 5:178204533-178211163

Previous symbols: [ "HNRPAB" ]

Links

ENSG00000197451

∙ NCBI:3182 ∙ OMIM:602688 ∙ HGNC:5034 ∙ Uniprot:Q99729 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HNRNPAB gene.

not_specified (39 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPAB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031266.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			38 clinvar			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HNRNPAB	protein_coding	protein_coding	ENST00000358344	7	6657

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.765	0.235	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.13	118	158	0.748	0.00000904	2179
Missense in Polyphen		20	45.855	0.43616		682
Synonymous	-1.55	78	62.4	1.25	0.00000416	613
Loss of Function	3.27	3	17.9	0.167	0.00000103	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds single-stranded RNA. Has a high affinity for G- rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site.;
Pathway: Preimplantation Embryo;mRNA Processing (Consensus)

Recessive Scores

pRec: 0.131

Intolerance Scores

loftool: 0.142
rvis_EVS: -0.38
rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

pHI: 0.417
hipred: Y
hipred_score: 0.783
ghis: 0.689

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.970

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Hnrnpab
Phenotype: homeostasis/metabolism phenotype; cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: epithelial to mesenchymal transition;positive regulation of transcription, DNA-templated
Cellular component: nucleus;nucleoplasm;cytoplasm;RNA polymerase II transcription factor complex;ribonucleoprotein complex
Molecular function: DNA-binding transcription factor activity;RNA binding;mRNA binding;protein binding;sequence-specific DNA binding;sequence-specific double-stranded DNA binding