FUNDC1

FUN14 domain containing 1

Basic information

Region (hg38): X:44523638-44542859

Links

ENSG00000069509 ∙ NCBI:139341 ∙ OMIM:300871 ∙ HGNC:28746 ∙ Uniprot:Q8IVP5 ∙ 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 FUNDC1 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUNDC1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in FUNDC1

This is a list of pathogenic ClinVar variants found in the FUNDC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-44527250-T-C		not specified	Uncertain significance (May 26, 2023)
X-44527253-T-C		not specified	Uncertain significance (Nov 13, 2023)
X-44527356-G-A		not specified	Uncertain significance (Apr 05, 2023)
X-44541955-C-T		not specified	Uncertain significance (Aug 17, 2022)
X-44541976-T-C		not specified	Uncertain significance (Oct 06, 2022)
X-44542000-T-C		not specified	Uncertain significance (Mar 14, 2023)
X-44542074-T-C		not specified	Uncertain significance (Oct 05, 2023)
X-44542816-G-T		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUNDC1	protein_coding	protein_coding	ENST00000378045	5	19363

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0421	0.856	125700	1	5	125706	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.259	46	51.2	0.898	0.00000357	1007
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000388	0.0000388
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000131	0.0000924
European (Non-Finnish)	0.0000248	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000540	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control. {ECO:0000269|PubMed:22267086}.
• Pathway: Mitophagy - animal - Homo sapiens (human);Receptor Mediated Mitophagy;Mitophagy (Consensus)

Recessive Scores

• pRec: 0.0908

Intolerance Scores

• loftool: 0.530
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.187
• hipred: N
• hipred_score: 0.290
• ghis: 0.636

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fundc1
• Phenotype: normal phenotype

Gene ontology

• Biological process: autophagy of mitochondrion;response to hypoxia;response to organonitrogen compound;macroautophagy
• Cellular component: mitochondrial outer membrane;integral component of mitochondrial outer membrane
• Molecular function: protein binding