GIMAP1-GIMAP5

protein-coding

GIMAP1-GIMAP5 readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring GIMAP1 (GTPase, IMAP family member 1) and GIMAP5 (GTPase, IMAP family member 5) genes on chromosome 7. Alternative splicing results in multiple readthrough transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2015]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:3U:6B:6

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr7:150,716,668-150,743,646

External References & Databases

Ensembl (ENSG00000281887)

NCBI Gene (100527949)

HGNC:51257

GenCC

ClinVar (GIMAP1-GIMAP5)

Transcript & Mutation Effects

hg38 • Region Span ~27.0 kb

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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 GIMAP1-GIMAP5 variants in ClinVar

4 Conditions Cataloged

Inborn genetic diseasesTotal: 14

not providedTotal: 5

Portal hypertensionTotal: 4

Portal hypertension, noncirrhotic, 2Total: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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		3 clinvar	6 clinvar	2 clinvar	1 clinvar	12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	3	6	3	3	15

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001199577.2	RefSeq	NP_001186506.1	5	Standard
NM_001303630.2	RefSeq	NP_001290559.1	4	Standard
ENST00000611999.4	Ensembl	ENSP00000477920.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

GTP binding

Cellular Component

endoplasmic reticulum
integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP