ERG
ETS transcription factor ERG, the group of ETS transcription factor family
Basic information
Region (hg38): 21:38380027-38661780
Links
Phenotypes
GenCC
Source:
- lymphatic malformation 14 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| 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
- not_specified (32 variants)
- Acute_lymphoid_leukemia (5 variants)
- Lymphatic_malformation_14 (3 variants)
- not_provided (1 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. These statistics are base on transcript: NM_000182918.4. 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 | 1 | |||||
| missense | 36 | 36 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 3 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 3 | 0 | 36 | 1 | 0 |
Highest pathogenic variant AF is 0.000006571857
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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