ERG

ETS transcription factor ERG, the group of ETS transcription factor family

Basic information

Region (hg38): 21:38380026-38661780

Links

ENSG00000157554 ∙ NCBI:2078 ∙ OMIM:165080 ∙ HGNC:3446 ∙ Uniprot:P11308 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Lymphatic malformation 14	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Cardiovascular	36928819
Reported clinical information has been limited

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERG gene.

• Inborn genetic diseases (11 variants)
• Acute lymphoid leukemia (5 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERG 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	17	1	0

Variants in ERG

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

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

Position	Type	Phenotype	Significance	ClinVar
21-38383438-T-C		not specified	Uncertain significance (May 05, 2023)
21-38383454-GT-G		Lymphatic malformation 14	Pathogenic (Nov 14, 2023)
21-38383537-G-A		not specified	Uncertain significance (Oct 27, 2021)
21-38383546-G-A		not specified	Uncertain significance (Jun 09, 2022)
21-38383741-C-T		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)
21-38383755-T-C		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)
21-38383756-C-T		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)
21-38392382-A-T		not specified	Uncertain significance (Aug 20, 2023)
21-38392430-G-A		not specified	Uncertain significance (Jan 17, 2024)
21-38400642-C-A		not specified	Uncertain significance (May 03, 2023)
21-38402557-CTG-C		Lymphatic malformation 14	Pathogenic (Nov 14, 2023)
21-38402573-C-T		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)
21-38403526-T-TTCC		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)
21-38403554-TG-T		Lymphatic malformation 14	Pathogenic (Nov 14, 2023)
21-38403617-G-C		not specified	Uncertain significance (Oct 06, 2021)
21-38423435-G-A			Likely benign (May 01, 2021)
21-38423439-G-T		not specified	Uncertain significance (Jun 23, 2023)
21-38423451-G-C		not specified	Uncertain significance (Jan 17, 2024)
21-38423538-A-G		not specified	Uncertain significance (Nov 18, 2022)
21-38423544-C-T		not specified	Uncertain significance (Jul 20, 2021)
21-38445522-C-T		not specified	Uncertain significance (Jul 09, 2021)
21-38445530-G-A		not specified	Uncertain significance (Nov 08, 2022)
21-38502544-T-C			Uncertain significance (Apr 01, 2022)
21-38575684-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERG	protein_coding	protein_coding	ENST00000417133	10	281756

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.964	0.0359	125670	0	8	125678	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.53	174	297	0.587	0.0000183	3190
Missense in Polyphen		33	94.471	0.34931		1033
Synonymous	0.228	118	121	0.974	0.00000862	925
Loss of Function	3.93	3	23.6	0.127	0.00000101	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000880
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000660	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.
• Disease: DISEASE: Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. {ECO:0000269|PubMed:8076344}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ERG has been found in patients with Erwing sarcoma. Translocation t(21;22)(q22;q12) with EWSR1. {ECO:0000269|PubMed:8076344}.; DISEASE: Note=Chromosomal aberrations involving ERG have been found in acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with FUS (PubMed:8187069). Translocation t(X;21)(q25-26;q22) with ELF4 (PubMed:16303180). {ECO:0000269|PubMed:16303180, ECO:0000269|PubMed:8187069}.
• Pathway: Prostate cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);TarBasePathway;miR-targeted genes in muscle cell - TarBase;Androgen Receptor Network in Prostate Cancer;VEGFA-VEGFR2 Signaling Pathway;FGF (Consensus)

Recessive Scores

• pRec: 0.303

Intolerance Scores

• loftool: 0.0739
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.91

Haploinsufficiency Scores

• pHI: 0.232
• hipred: Y
• hipred_score: 0.851
• ghis: 0.606

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.873

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Erg
• Phenotype: embryo phenotype; respiratory 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); hematopoietic system phenotype; reproductive system phenotype; normal 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); neoplasm; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: erg
• Affected structure: intersegmental vessel
• Phenotype tag: abnormal
• Phenotype quality: irregular spatial pattern

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;protein phosphorylation;signal transduction;multicellular organism development;cell population proliferation;cell differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;cytoplasm;ribonucleoprotein complex
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;protein binding