GIMAP7

GTPase, IMAP family member 7, the group of GTPases, IMAP

Basic information

Region (hg38): 7:150514871-150521073

Links

ENSG00000179144 ∙ NCBI:168537 ∙ OMIM:616961 ∙ HGNC:22404 ∙ Uniprot:Q8NHV1 ∙ 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 GIMAP7 gene.

• Inborn genetic diseases (22 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIMAP7 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			20	2	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	1

Variants in GIMAP7

This is a list of pathogenic ClinVar variants found in the GIMAP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150519994-G-C		not specified	Likely benign (Feb 22, 2023)
7-150520008-G-A		not specified	Uncertain significance (Dec 14, 2022)
7-150520024-C-G		not specified	Uncertain significance (Jan 09, 2024)
7-150520039-G-A		not specified	Uncertain significance (Jun 27, 2022)
7-150520057-T-A		not specified	Uncertain significance (Apr 07, 2022)
7-150520062-G-C		not specified	Uncertain significance (Jun 21, 2021)
7-150520090-C-T		not specified	Uncertain significance (May 23, 2023)
7-150520123-C-T		not specified	Uncertain significance (Dec 01, 2022)
7-150520141-G-C		not specified	Uncertain significance (Apr 25, 2023)
7-150520167-C-T		not specified	Uncertain significance (Dec 02, 2022)
7-150520214-A-T		not specified	Uncertain significance (Apr 25, 2023)
7-150520221-C-T			Benign (Feb 18, 2020)
7-150520255-C-T		not specified	Uncertain significance (Apr 13, 2022)
7-150520260-G-T		not specified	Uncertain significance (Jun 12, 2023)
7-150520331-T-A		not specified	Uncertain significance (Apr 07, 2022)
7-150520353-A-G		not specified	Uncertain significance (Jun 23, 2021)
7-150520439-C-G		not specified	Uncertain significance (Feb 07, 2023)
7-150520462-G-A		not specified	Uncertain significance (Jun 05, 2023)
7-150520497-A-G		not specified	Likely benign (Aug 17, 2022)
7-150520503-G-C		not specified	Uncertain significance (Jun 28, 2022)
7-150520572-T-G		not specified	Uncertain significance (Dec 06, 2022)
7-150520620-C-T		not specified	Uncertain significance (Jan 03, 2024)
7-150520712-G-T		not specified	Uncertain significance (Dec 18, 2023)
7-150520783-G-C		not specified	Uncertain significance (Sep 27, 2021)
7-150520800-G-A		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GIMAP7	protein_coding	protein_coding	ENST00000313543	1	6244

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.614	139	161	0.864	0.00000858	2002
Missense in Polyphen		38	45.242	0.83993		618
Synonymous	-1.06	71	60.5	1.17	0.00000323	540
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The dimer has GTPase activity; the active site contains residues from both subunits. {ECO:0000269|PubMed:23454188}.

Intolerance Scores

• loftool: 0.736
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.0163
• hipred: N
• hipred_score: 0.112
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.247

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gimap7

Gene ontology

• Biological process: GTP metabolic process
• Cellular component: endoplasmic reticulum;Golgi apparatus;lipid droplet;cytosol;intracellular membrane-bounded organelle
• Molecular function: GTPase activity;protein binding;GTP binding;identical protein binding;protein homodimerization activity