PEG10

paternally expressed 10, the group of Retrotransposon Gag like

Basic information

Region (hg38): 7:94656325-94669695

Links

ENSG00000242265

∙ NCBI:23089 ∙ OMIM:609810 ∙ HGNC:14005 ∙ Uniprot:Q86TG7 ∙ 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 PEG10 gene.

Inborn genetic diseases (10 variants)
not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PEG10 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			8 clinvar	2 clinvar		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1 clinvar		1
Total	0	0	8	3	0

Variants in PEG10

This is a list of pathogenic ClinVar variants found in the PEG10 region.

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

Position	Phenotype	Significance	ClinVar
7-94656435-G-A		Likely benign (Mar 09, 2019)	1196294
7-94663366-G-A	not specified	Likely benign (Dec 21, 2022)	2338836
7-94663367-G-C	not specified	Uncertain significance (Dec 14, 2023)	3211336
7-94663401-C-A	not specified	Uncertain significance (Nov 10, 2022)	2325551
7-94663428-A-G	not specified	Uncertain significance (Sep 03, 2024)	3416920
7-94663446-A-G	not specified	Uncertain significance (Jun 29, 2023)	2607462
7-94663458-G-C	not specified	Uncertain significance (Jan 08, 2024)	3211332
7-94663543-C-T	not specified	Uncertain significance (Oct 06, 2024)	3416916
7-94663632-G-A	not specified	Uncertain significance (Dec 30, 2023)	3211333
7-94663662-A-C	not specified	Uncertain significance (Sep 27, 2024)	3416921
7-94663718-T-A	not specified	Likely benign (Dec 14, 2023)	3211335
7-94663740-C-T	not specified	Likely benign (Jun 05, 2023)	2510193
7-94663767-C-T	not specified	Uncertain significance (Jun 21, 2022)	2234888
7-94663770-C-G	not specified	Uncertain significance (Feb 03, 2022)	2275435
7-94663789-G-A	not specified	Uncertain significance (Mar 11, 2024)	3211337
7-94663849-C-T	not specified	Uncertain significance (Apr 13, 2022)	2283594
7-94663868-G-C	not specified	Uncertain significance (Aug 10, 2024)	3416919
7-94663959-G-A	not specified	Uncertain significance (Dec 09, 2024)	3416922
7-94664034-G-A	not specified	Uncertain significance (Apr 20, 2024)	3305738
7-94664298-C-G	not specified	Uncertain significance (Sep 09, 2024)	3416917
7-94664298-C-T	not specified	Uncertain significance (Jul 09, 2021)	2235796
7-94664319-C-T	not specified	Uncertain significance (Dec 12, 2023)	3211338
7-94664395-G-A	not specified	Uncertain significance (Apr 18, 2023)	2538001
7-94664421-C-T	not specified	Uncertain significance (Jan 22, 2024)	3211331
7-94664503-C-T	not specified	Uncertain significance (Feb 28, 2023)	2490405

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PEG10	protein_coding	protein_coding	ENST00000482108	1	13371

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.873	0.127	124613	0	3	124616	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	123	208	0.593	0.0000134	2130
Missense in Polyphen		42	68.973	0.60894		731
Synonymous	1.34	69	84.7	0.814	0.00000589	646
Loss of Function	2.81	1	11.1	0.0900	7.27e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000187	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Prevents apoptosis in hepatocellular carcinoma (HCC) cells through interaction with SIAH1, a mediator of apoptosis. May also have a role in cell growth promotion and hepatoma formation. Inhibits the TGF-beta signaling by interacting with the TGF-beta receptor ALK1. When overexpressed, induces the formation of cellular extension, such as filipodia in association with ALK1. Involved at the immediate early stage of adipocyte differentiation (By similarity). May bind to the 5'-GCCTGTCTTT-3' DNA sequence of the MB1 domain in the myelin basic protein (MBP) promoter (By similarity). {ECO:0000250, ECO:0000269|PubMed:12810624, ECO:0000269|PubMed:15611116, ECO:0000269|PubMed:16423995, ECO:0000269|PubMed:17369855}.;
Pathway: Validated targets of C-MYC transcriptional activation (Consensus)

Recessive Scores

pRec: 0.110

Intolerance Scores

loftool
rvis_EVS: -0.27
rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

pHI: 0.707
hipred: Y
hipred_score: 0.507
ghis: 0.673

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Peg10
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; growth/size/body region phenotype; cellular phenotype;

Gene ontology

Biological process: apoptotic process;cell differentiation;negative regulation of transforming growth factor beta receptor signaling pathway
Cellular component: nucleus;cytoplasm;cytosol
Molecular function: DNA binding;RNA binding;protein binding;zinc ion binding