GBP7

guanylate binding protein 7, the group of Guanylate binding proteins

Basic information

Region (hg38): 1:89131742-89176009

Links

ENSG00000213512 ∙ NCBI:388646 ∙ OMIM:612468 ∙ HGNC:29606 ∙ Uniprot:Q8N8V2 ∙ 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 GBP7 gene.

• not_specified (82 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GBP7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207398.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			73	9		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GBP7	protein_coding	protein_coding	ENST00000294671	10	44290

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.55e-14	0.0941	125124	3	621	125748	0.00248

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.249	337	324	1.04	0.0000153	4207
Missense in Polyphen		100	97.78	1.0227		1372
Synonymous	-0.963	139	125	1.11	0.00000638	1181
Loss of Function	0.807	24	28.7	0.837	0.00000148	330

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0219	0.0220
Ashkenazi Jewish	0.00228	0.00228
East Asian	0.00125	0.00125
Finnish	0.000185	0.000185
European (Non-Finnish)	0.00139	0.00139
Middle Eastern	0.00125	0.00125
South Asian	0.000883	0.000882
Other	0.00245	0.00245

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity). {ECO:0000250}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.855
• rvis_EVS: 0.94
• rvis_percentile_EVS: 89.87

Haploinsufficiency Scores

• pHI: 0.0298
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0348

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gbp7

Gene ontology

• Cellular component: membrane
• Molecular function: GTPase activity;GTP binding