GIMAP8

protein-coding

GTPase, IMAP family member 8, the group of GTPases, IMAP

Gene summary

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

MANE transcript

NM_175571.4

Inheritance

—

ClinVar variants

U:100B:13

Top phenotype

Autism

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr7:150,450,630-150,479,393

External References & Databases

Ensembl (ENSG00000171115)

Transcript & Mutation Effects

hg38 • Region Span ~28.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GIMAP8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 110

not providedTotal: 1

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_175571.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			98 clinvar	11 clinvar		109
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	13	0	113

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_175571.4	RefSeq	NP_783161.1	4	MANE Select
ENST00000307271.4	Ensembl	ENSP00000305107.3	4	MANE Select
ENST00000901633.1	Ensembl	ENSP00000571692.1	3	Standard
ENST00000901633.2	Ensembl	ENSP00000571692.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of T cell apoptotic process

Molecular Function

GTP binding

Cellular Component

mitochondrion
endoplasmic reticulum
Golgi apparatus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000307271
Coding exons: 4
Length: 28763
Individuals with no LoFs: 122793
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 122794
p: 0.00000407

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.204	356	367	0.970	0.0000210	4395
Missense (PolyPhen)		107	117.44	0.91114		1529
Synonymous	-1.23	167	148	1.13	0.00000876	1281
Loss of Function	1.61	9	15.9	0.565	7.62e-7	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000090	0.0000090	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections. {ECO:0000250}.;

Recessive Scores

pRec: 0.0567

Intolerance Scores

LoFtool: 0.847
RVIS EVS: -0.02
RVIS percentile EVS: 52.25

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0986

Gene Damage Prediction

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