GRAMD4

GRAM domain containing 4, the group of GRAM domain containing

Basic information

Region (hg38): 22:46576012-46679790

Links

ENSG00000075240 ∙ NCBI:23151 ∙ OMIM:613691 ∙ HGNC:29113 ∙ Uniprot:Q6IC98 ∙ 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 GRAMD4 gene.

• not_specified (81 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRAMD4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015124.5. 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			2			2
missense			80	3	1	84
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5			5
Total	0	0	88	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRAMD4	protein_coding	protein_coding	ENST00000406902	18	103780

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125732	0	3	125735	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.56	249	391	0.636	0.0000271	3771
Missense in Polyphen		58	133.02	0.43603		1274
Synonymous	0.0182	171	171	0.998	0.0000131	1110
Loss of Function	5.48	2	38.8	0.0515	0.00000210	407

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. {ECO:0000269|PubMed:15565177}.
• Pathway: p73 transcription factor network (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.0264
• rvis_EVS: -1.07
• rvis_percentile_EVS: 7.43

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.584

Gene Damage Prediction

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

Gene ontology

• Biological process: apoptotic process;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
• Cellular component: mitochondrion;integral component of membrane;mitochondrial membrane
• Molecular function: molecular_function