FUNDC1

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			1
missense			29 clinvar			29
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	36	0	0	36

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173794.4	RefSeq	NP_776155.1	5	MANE Select
ENST00000378045.5	Ensembl	ENSP00000367284.4	5	MANE Select
ENST00000885822.1	Ensembl	ENSP00000555881.1	4	Standard
ENST00000885822.2	Ensembl	ENSP00000555881.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Mitophagy - animal - Homo sapiens (human)
Receptor Mediated Mitophagy
Mitophagy

Biological Process

autophagy of mitochondrion
response to hypoxia
response to organonitrogen compound
macroautophagy

Molecular Function

protein binding

Cellular Component

mitochondrial outer membrane
integral component of mitochondrial outer membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378045
Coding exons: 5
Length: 19363
Individuals with no LoFs: 125700
Homozygous LoFs: 1
Heterozygous LoFs: 5
Defined: 125706
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.259	46	51.2	0.898	0.00000357	1007
Missense (PolyPhen)		7	13.486	0.51907		288
Synonymous	0.746	14	18.0	0.777	0.00000135	287
Loss of Function	1.33	3	6.72	0.446	5.41e-7	111

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000039	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00013	0.000092	rare
European (Non-Finnish)	0.000025	0.000018	rare
South Asian	0.000054	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control. {ECO:0000269|PubMed:22267086}.;

Recessive Scores

pRec: 0.0908

Intolerance Scores

LoFtool: 0.530
RVIS EVS: 0.01
RVIS percentile EVS: 54.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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