GDF10

growth differentiation factor 10, the group of Transforming growth factor beta superfamily

Basic information

Region (hg38): 10:47300196-47313577

Links

ENSG00000266524 ∙ NCBI:2662 ∙ OMIM:601361 ∙ HGNC:4215 ∙ Uniprot:P55107 ∙ 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 GDF10 gene.

• Inborn genetic diseases (20 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GDF10 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					1	1
missense			20		1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	2

Variants in GDF10

This is a list of pathogenic ClinVar variants found in the GDF10 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-47300691-C-A		not specified	Uncertain significance (May 09, 2023)
10-47300713-T-C		not specified	Uncertain significance (Dec 18, 2023)
10-47300844-G-A		not specified	Uncertain significance (Dec 14, 2021)
10-47300872-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-47300886-A-G		not specified	Uncertain significance (Jan 18, 2022)
10-47300934-G-A		not specified	Uncertain significance (Jan 29, 2024)
10-47300965-G-C		not specified	Uncertain significance (Apr 11, 2023)
10-47309814-C-T		not specified	Uncertain significance (Jan 09, 2024)
10-47309816-G-A		not specified	Uncertain significance (Jun 27, 2022)
10-47309850-C-T		not specified	Uncertain significance (Sep 27, 2022)
10-47309967-T-C		not specified	Likely benign (Jan 17, 2024)
10-47310103-C-G		not specified	Uncertain significance (Jul 13, 2021)
10-47310143-G-A		not specified	Uncertain significance (Mar 05, 2024)
10-47310144-C-T		not specified	Uncertain significance (Nov 01, 2022)
10-47310170-C-G		not specified	Uncertain significance (Feb 16, 2023)
10-47310251-G-A		not specified	Uncertain significance (Dec 21, 2022)
10-47310338-G-A		not specified	Uncertain significance (Mar 28, 2022)
10-47310366-C-G		not specified	Uncertain significance (Jan 26, 2023)
10-47310369-T-G		not specified	Uncertain significance (Jan 17, 2024)
10-47310375-A-G		not specified	Uncertain significance (Sep 20, 2023)
10-47310386-C-G		not specified	Uncertain significance (May 18, 2023)
10-47310388-G-A			Benign (Jul 26, 2018)
10-47310431-C-T		not specified	Uncertain significance (Jan 11, 2023)
10-47310450-C-T		not specified	Uncertain significance (Sep 22, 2022)
10-47310465-C-G		not specified	Uncertain significance (May 18, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis. {ECO:0000250|UniProtKB:P97737}.
• Pathway: Adipogenesis;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;TGF-beta super family signaling pathway canonical;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;BMP2 signaling TGF-beta MV;BMP signaling Dro (Consensus)

Recessive Scores

• pRec: 0.175

Intolerance Scores

• loftool: 0.195
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.727
• hipred: Y
• hipred_score: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gdf10
• Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype; normal phenotype; renal/urinary system phenotype

Gene ontology

• Biological process: skeletal system development;osteoblast differentiation;transforming growth factor beta receptor signaling pathway;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;regulation of apoptotic process;regulation of MAPK cascade;fat cell differentiation;negative regulation of osteoblast differentiation;cell development;SMAD protein signal transduction
• Cellular component: extracellular space;collagen-containing extracellular matrix
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;growth factor activity