ELMO1
engulfment and cell motility 1, the group of MicroRNA protein coding host genes|Engulfment and cell motility proteins
Basic information
Region (hg38): 7:36852906-37449223
Links
Phenotypes
GenCC
Source:
- male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (53 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELMO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014800.11. 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 | 0 | |||||
| missense | 54 | 54 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 54 | 0 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ELMO1 | protein_coding | protein_coding | ENST00000310758 | 21 | 594892 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.900 | 0.100 | 125733 | 0 | 14 | 125747 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.13 | 253 | 437 | 0.579 | 0.0000260 | 4875 |
| Missense in Polyphen | 69 | 172.48 | 0.40005 | 1852 | ||
| Synonymous | -0.477 | 178 | 170 | 1.05 | 0.0000111 | 1294 |
| Loss of Function | 5.15 | 9 | 47.1 | 0.191 | 0.00000276 | 491 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000123 | 0.000123 |
| Ashkenazi Jewish | 0.000199 | 0.000198 |
| East Asian | 0.0000546 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000537 | 0.0000527 |
| Middle Eastern | 0.0000546 | 0.0000544 |
| South Asian | 0.000105 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:12134158}.;
- Pathway
- Chemokine signaling pathway - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Shigellosis - Homo sapiens (human);Chemokine signaling pathway;Signaling by PTK6;Disease;Signal Transduction;VEGFA-VEGFR2 Pathway;Host Interactions of HIV factors;HIV Infection;Fcgamma receptor (FCGR) dependent phagocytosis;TCR;Infectious disease;Innate Immune System;Immune System;Nef and signal transduction;Regulation of RAC1 activity;The role of Nef in HIV-1 replication and disease pathogenesis;Regulation of actin dynamics for phagocytic cup formation;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;Signaling by VEGF;Signaling by Receptor Tyrosine Kinases;Neurotrophic factor-mediated Trk receptor signaling;Netrin-mediated signaling events;Signaling events mediated by focal adhesion kinase;IL8- and CXCR2-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.166
Intolerance Scores
- loftool
- 0.387
- rvis_EVS
- -0.53
- rvis_percentile_EVS
- 20.7
Haploinsufficiency Scores
- pHI
- 0.378
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.551
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.929
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Elmo1
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; reproductive system phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- elmo1
- Affected structure
- thoracic duct
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- phagocytosis, engulfment;apoptotic process;cell migration;Rac protein signal transduction;actin cytoskeleton organization;Fc-gamma receptor signaling pathway involved in phagocytosis;vascular endothelial growth factor receptor signaling pathway;cell motility;regulation of defense response to virus by virus
- Cellular component
- cytoplasm;cytosol;plasma membrane;membrane;guanyl-nucleotide exchange factor complex
- Molecular function
- guanyl-nucleotide exchange factor activity;protein binding;SH3 domain binding