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.

not_specified (185 variants)
not_provided (9 variants)

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. These statistics are base on transcript: NM_000020733.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	1 clinvar	4
missense			168 clinvar	17 clinvar	3 clinvar	188
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	168	20	4

Loading clinvar variants...

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