AMBP

alpha-1-microglobulin/bikunin precursor, the group of Lipocalins

Basic information

Region (hg38): 9:114060127-114078328

Previous symbols: [ "ITI", "ITIL" ]

Links

ENSG00000106927 ∙ NCBI:259 ∙ OMIM:176870 ∙ HGNC:453 ∙ Uniprot:P02760 ∙ 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 AMBP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMBP 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			28	5		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	28	5	0

Variants in AMBP

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

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

Position	Type	Phenotype	Significance	ClinVar
9-114060270-C-T		not specified	Uncertain significance (Feb 28, 2024)
9-114060930-C-T		not specified	Uncertain significance (Nov 08, 2022)
9-114060951-C-G		not specified	Uncertain significance (May 18, 2023)
9-114060974-C-A		not specified	Uncertain significance (Sep 14, 2022)
9-114060987-C-T		not specified	Uncertain significance (Oct 17, 2023)
9-114061068-G-A		not specified	Uncertain significance (Apr 13, 2023)
9-114061071-C-G		not specified	Uncertain significance (Jan 03, 2024)
9-114061089-T-G		not specified	Uncertain significance (Mar 07, 2024)
9-114061098-G-A		not specified	Uncertain significance (Jul 19, 2023)
9-114061451-C-G		not specified	Uncertain significance (Jun 03, 2022)
9-114061475-C-T			Likely benign (Apr 01, 2022)
9-114061493-C-T		not specified	Uncertain significance (May 24, 2023)
9-114061571-A-C		not specified	Likely benign (Jan 16, 2024)
9-114062688-G-T		not specified	Uncertain significance (May 26, 2024)
9-114069712-G-A		not specified	Uncertain significance (Aug 02, 2022)
9-114072919-A-G			Benign (Dec 11, 2017)
9-114072927-C-T		not specified	Uncertain significance (Nov 09, 2021)
9-114072928-G-C		not specified	Uncertain significance (Sep 16, 2021)
9-114072936-A-G		not specified	Uncertain significance (Dec 20, 2023)
9-114074065-T-C		not specified	Uncertain significance (May 26, 2022)
9-114074068-T-C		not specified	Likely benign (Jun 02, 2023)
9-114074069-G-A		not specified	Uncertain significance (Dec 26, 2023)
9-114074128-T-C		not specified	Uncertain significance (Feb 01, 2023)
9-114076604-C-T		not specified	Likely benign (Jul 26, 2023)
9-114076638-C-T		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMBP	protein_coding	protein_coding	ENST00000265132	10	18346

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.79e-13	0.0385	125622	0	126	125748	0.000501

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.162	228	221	1.03	0.0000132	2292
Missense in Polyphen		79	82.843	0.95361		927
Synonymous	0.523	81	87.2	0.929	0.00000554	680
Loss of Function	0.232	20	21.2	0.946	0.00000112	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00130	0.00129
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000475	0.000457
Middle Eastern	0.000381	0.000381
South Asian	0.000851	0.000850
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization. {ECO:0000269|PubMed:7676539}.
• Pathway: Vesicle-mediated transport;Scavenging of heme from plasma;Binding and Uptake of Ligands by Scavenger Receptors (Consensus)

Recessive Scores

• pRec: 0.343

Intolerance Scores

• loftool: 0.564
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.65

Haploinsufficiency Scores

• pHI: 0.321
• hipred: N
• hipred_score: 0.254
• ghis: 0.922

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ambp
• Phenotype: reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: ambp
• Affected structure: eye
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: receptor-mediated endocytosis;cell adhesion;female pregnancy;negative regulation of endopeptidase activity;viral process;protein-chromophore linkage;protein catabolic process;heme catabolic process;negative regulation of JNK cascade;negative regulation of immune response
• Cellular component: extracellular region;extracellular space;plasma membrane;cell surface;intracellular membrane-bounded organelle;collagen-containing extracellular matrix;extracellular exosome;blood microparticle
• Molecular function: serine-type endopeptidase inhibitor activity;protein binding;calcium channel inhibitor activity;IgA binding;heme binding;protein homodimerization activity;calcium oxalate binding