A1BG

alpha-1-B glycoprotein, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 19:58345178-58353492

Links

ENSG00000121410 ∙ NCBI:1 ∙ OMIM:138670 ∙ HGNC:5 ∙ Uniprot:P04217 ∙ 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 A1BG gene.

• not_specified (70 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the A1BG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130786.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			69	2		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
A1BG	protein_coding	protein_coding	ENST00000263100	8	8322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.99e-9	0.387	125614	0	134	125748	0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0861	298	294	1.01	0.0000188	3115
Missense in Polyphen		104	101.39	1.0257		1127
Synonymous	-0.275	141	137	1.03	0.00000920	1080
Loss of Function	0.873	15	19.1	0.785	9.13e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000757	0.000753
Ashkenazi Jewish	0.00596	0.00597
East Asian	0.000829	0.000816
Finnish	0.00	0.00
European (Non-Finnish)	0.000258	0.000255
Middle Eastern	0.000829	0.000816
South Asian	0.000262	0.000261
Other	0.000820	0.000815

dbNSFP

Source: dbNSFP

• Pathway: Neutrophil degranulation;Innate Immune System;Immune System;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.316

Intolerance Scores

• loftool: 0.882
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.51

Haploinsufficiency Scores

• pHI: 0.0738
• hipred: N
• hipred_score: 0.220
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.659

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: A1bg

Gene ontology

• Biological process: platelet degranulation;biological_process;neutrophil degranulation
• Cellular component: extracellular region;extracellular space;platelet alpha granule lumen;secretory granule lumen;collagen-containing extracellular matrix;extracellular exosome;blood microparticle;ficolin-1-rich granule lumen
• Molecular function: molecular_function