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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			41	2		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	2	0

Variants in A1BG

This is a list of pathogenic ClinVar variants found in the A1BG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-58347370-A-T		not specified	Uncertain significance (Dec 16, 2023)
19-58347416-G-C		not specified	Uncertain significance (Nov 29, 2021)
19-58347455-C-G		not specified	Uncertain significance (Jul 10, 2024)
19-58347488-G-C		not specified	Uncertain significance (Jan 24, 2024)
19-58347494-G-A		not specified	Uncertain significance (Nov 03, 2023)
19-58347516-C-G		not specified	Uncertain significance (May 26, 2023)
19-58347522-C-G		not specified	Uncertain significance (May 26, 2023)
19-58347529-A-G		not specified	Uncertain significance (May 21, 2024)
19-58347557-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-58347616-C-T		not specified	Uncertain significance (Dec 16, 2023)
19-58350428-G-T		not specified	Uncertain significance (May 30, 2024)
19-58350439-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-58350442-A-G			Likely benign (Nov 01, 2022)
19-58350456-G-A		not specified	Uncertain significance (Feb 28, 2024)
19-58350492-G-T		not specified	Uncertain significance (Aug 24, 2022)
19-58350493-C-T		not specified	Uncertain significance (May 04, 2023)
19-58350496-C-T		not specified	Uncertain significance (May 08, 2024)
19-58350542-G-C		not specified	Uncertain significance (Jun 01, 2023)
19-58350555-A-C		not specified	Uncertain significance (Nov 14, 2023)
19-58350559-C-T		not specified	Uncertain significance (Dec 11, 2023)
19-58350564-C-G		not specified	Uncertain significance (Aug 02, 2022)
19-58350571-C-A		not specified	Uncertain significance (Jul 11, 2023)
19-58350574-C-T		not specified	Uncertain significance (Nov 08, 2022)
19-58350610-C-T		not specified	Uncertain significance (Apr 25, 2023)
19-58350624-G-A		not specified	Uncertain significance (Nov 21, 2022)

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