GRAMD4

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			2 clinvar			2
missense			81 clinvar	3 clinvar	1 clinvar	85
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	91	3	1	95

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015124.5	RefSeq	NP_055939.1	18	MANE Select
ENST00000406902.6	Ensembl	ENSP00000385689.1	18	MANE Select
NM_001366660.1	RefSeq	NP_001353589.1	18	Standard
ENST00000361034.7	Ensembl	ENSP00000354313.3	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

p73 transcription factor network

Biological Process

apoptotic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

Molecular Function

molecular_function

Cellular Component

mitochondrion
integral component of membrane
mitochondrial membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000406902
Coding exons: 18
Length: 103780
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125735
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.56	249	391	0.636	0.0000271	3771
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. {ECO:0000269|PubMed:15565177}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.0264
RVIS EVS: -1.07
RVIS percentile EVS: 7.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.584

Gene Damage Prediction

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