HEG1

heart development protein with EGF like domains 1

Basic information

Region (hg38): 3:124965710-125055997

Links

ENSG00000173706 ∙ NCBI:57493 ∙ OMIM:614182 ∙ HGNC:29227 ∙ Uniprot:Q9ULI3 ∙ 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 HEG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HEG1 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				2	1	3
missense			71	5	3	79
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	71	7	4

Variants in HEG1

This is a list of pathogenic ClinVar variants found in the HEG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-124970695-G-A		not specified	Uncertain significance (Jan 04, 2022)
3-124970701-T-C		not specified	Uncertain significance (Jul 15, 2021)
3-124970754-C-T			Likely benign (Aug 01, 2022)
3-124970765-C-T		not specified	Uncertain significance (Jan 31, 2023)
3-124970770-C-T		not specified	Uncertain significance (Feb 28, 2023)
3-124970777-G-A		not specified	Uncertain significance (Nov 09, 2024)
3-124970783-G-T		not specified	Uncertain significance (May 13, 2022)
3-124970784-A-C		not specified	Uncertain significance (Mar 28, 2024)
3-124970800-G-C		not specified	Uncertain significance (Dec 03, 2021)
3-124973735-T-C		not specified	Uncertain significance (Oct 05, 2023)
3-124973801-C-T		not specified	Uncertain significance (Jul 25, 2024)
3-124973819-C-T		not specified	Uncertain significance (Jun 10, 2022)
3-124973876-A-G		not specified	Uncertain significance (Apr 17, 2023)
3-124973877-T-C		not specified	Uncertain significance (Jun 28, 2022)
3-124977881-C-T		not specified	Uncertain significance (Dec 28, 2022)
3-124977884-T-C		not specified	Uncertain significance (Apr 26, 2023)
3-124997698-A-G		not specified	Uncertain significance (Sep 04, 2024)
3-124997730-G-A		not specified	Uncertain significance (Sep 06, 2022)
3-124997805-C-T		not specified	Uncertain significance (Jan 16, 2024)
3-124997823-G-A		not specified	Uncertain significance (Nov 28, 2023)
3-125001864-G-A			Uncertain significance (Oct 01, 2023)
3-125001903-A-C		not specified	Uncertain significance (Nov 06, 2024)
3-125001931-C-G		not specified	Uncertain significance (Jan 26, 2023)
3-125001953-G-A		not specified	Uncertain significance (May 30, 2023)
3-125002297-C-T		not specified	Likely benign (Aug 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HEG1	protein_coding	protein_coding	ENST00000311127	17	90249

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-7	1.00	124617	0	22	124639	0.0000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.474	643	678	0.949	0.0000368	8747
Missense in Polyphen		124	154.37	0.80326		1949
Synonymous	1.10	246	269	0.915	0.0000156	2956
Loss of Function	4.05	21	52.7	0.398	0.00000287	676

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000234	0.000234
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000568	0.0000556
Finnish	0.0000934	0.0000928
European (Non-Finnish)	0.0000803	0.0000796
Middle Eastern	0.0000568	0.0000556
South Asian	0.0000700	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions. {ECO:0000250}.

Intolerance Scores

• loftool: 0.166
• rvis_EVS: 0.99
• rvis_percentile_EVS: 90.5

Haploinsufficiency Scores

• pHI: 0.358
• hipred: N
• hipred_score: 0.233
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.174

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Heg1
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; craniofacial phenotype; growth/size/body region phenotype; respiratory system phenotype; immune system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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

Zebrafish Information Network

• Gene name: heg1
• Affected structure: myocardium
• Phenotype tag: abnormal
• Phenotype quality: distended

Gene ontology

• Biological process: vasculogenesis;in utero embryonic development;endothelial cell morphogenesis;lymph vessel development;lymph circulation;cardiac atrium morphogenesis;ventricular trabecula myocardium morphogenesis;ventricular septum development;cell-cell junction assembly;heart development;post-embryonic development;lung development;negative regulation of Rho protein signal transduction;multicellular organism growth;venous blood vessel morphogenesis;regulation of body fluid levels;cardiac muscle tissue growth;pericardium development;positive regulation of fibroblast growth factor production;protein localization to cell junction;negative regulation of membrane permeability;negative regulation of Rho-dependent protein serine/threonine kinase activity
• Cellular component: extracellular region;cell-cell junction;external side of plasma membrane;integral component of membrane
• Molecular function: calcium ion binding;protein binding