GIMAP6

GTPase, IMAP family member 6, the group of GTPases, IMAP

Basic information

Region (hg38): 7:150625375-150632648

Links

ENSG00000133561 ∙ NCBI:474344 ∙ OMIM:616960 ∙ HGNC:21918 ∙ Uniprot:Q6P9H5 ∙ 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 GIMAP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIMAP6 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					2	2
missense			30	2	4	36
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	30	2	6

Variants in GIMAP6

This is a list of pathogenic ClinVar variants found in the GIMAP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150627723-A-G		not specified	Uncertain significance (Dec 27, 2022)
7-150627725-G-C		not specified	Uncertain significance (Jan 10, 2025)
7-150627737-C-T		not specified	Benign (Jan 24, 2024)
7-150627744-C-T		not specified	Uncertain significance (Jan 06, 2023)
7-150627747-C-G		not specified	Uncertain significance (Sep 30, 2024)
7-150627830-G-T			Benign (Mar 02, 2018)
7-150627868-G-A		not specified	Uncertain significance (Jul 20, 2022)
7-150627888-T-C			Benign (Mar 02, 2018)
7-150627939-T-C		not specified	Uncertain significance (Mar 11, 2025)
7-150627964-G-T		not specified	Uncertain significance (Feb 13, 2023)
7-150627972-T-C		not specified	Uncertain significance (Jan 08, 2024)
7-150627993-C-A		not specified	Uncertain significance (Feb 27, 2025)
7-150628006-C-T		not specified	Likely benign (Nov 20, 2023)
7-150628014-C-T		not specified	Uncertain significance (Mar 08, 2025)
7-150628055-G-C		not specified	Uncertain significance (May 23, 2023)
7-150628056-T-C		not specified	Uncertain significance (Jul 19, 2022)
7-150628062-T-G		not specified	Uncertain significance (Nov 27, 2024)
7-150628087-C-T		not specified	Benign (Jan 24, 2024)
7-150628107-C-T		not specified	Uncertain significance (Sep 22, 2022)
7-150628108-G-A		not specified	Uncertain significance (Nov 18, 2022)
7-150628128-T-C		not specified	Uncertain significance (May 20, 2024)
7-150628182-T-C		not specified	Uncertain significance (Feb 14, 2023)
7-150628188-T-A		not specified	Uncertain significance (May 24, 2023)
7-150628197-C-T		not specified	Uncertain significance (Dec 28, 2024)
7-150628198-G-A		not specified	Uncertain significance (Feb 22, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GIMAP6	protein_coding	protein_coding	ENST00000328902	2	7011

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.142	0.642	116461	0	1	116462	0.00000429

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.293	151	161	0.935	0.00000967	1870
Missense in Polyphen		49	55.518	0.8826		647
Synonymous	-1.29	86	72.1	1.19	0.00000453	602
Loss of Function	0.620	1	1.93	0.518	8.18e-8	22

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000472	0.0000472
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0791

Intolerance Scores

• loftool: 0.471
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.58

Haploinsufficiency Scores

• pHI: 0.0548
• hipred: N
• hipred_score: 0.172
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0376

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gimap6
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: nucleoplasm;cytosol
• Molecular function: GTP binding