TDGF1P3

teratocarcinoma-derived growth factor 1 pseudogene 3

Basic information

Region (hg38): X:110520895-110523021

Previous symbols: [ "TDGF3" ]

Links

ENSG00000225366

∙ NCBI:6998 ∙ ∙ HGNC:11703 ∙ Uniprot:P51864 ∙ 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 TDGF1P3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TDGF1P3 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. Activates the Nodal-dependent signaling pathway. {ECO:0000269|PubMed:18835250}.;
Pathway: Developmental Biology;Regulation of signaling by NODAL;Signaling by NODAL (Consensus)

Recessive Scores

pRec: 0.565

Gene ontology

Biological process: signal transduction;determination of left/right symmetry;heart development;anterior/posterior pattern specification;regulation of signaling receptor activity;BMP signaling pathway;nodal signaling pathway;anatomical structure development
Cellular component: extracellular region;plasma membrane;cell surface
Molecular function: signaling receptor binding;growth factor activity;nodal binding;activin receptor binding