Table 2.
Pseudogenes and human diseases. List of human diseases in which the EEFs pseudogenes are suspected to be involved or there are evidences about their implication. Cancers are grouped according to the International Classification of Diseases for Oncology (ICD-O-3) and TCGA abbreviations are reported in brackets while the other human diseases are grouped according to International Statistical Classification of Diseases and Related Health Problems (ICD-11). For references see the supplementary table TA1SUPPL (where reference is missing the data are extracted mainly from GEO Profiles/NCBI and Open Targets Platform but also from other datasets; see paragraph “Material and methods”).
| Disease list | Pseudogenes | |||
|---|---|---|---|---|
| Cancer (included tissues and cell cultures) | Solid tumors | Lip, oral cavity and pharynx | Nasopharyngeal carcinoma | EEF1A1P5 |
| Oral squamous cell carcinoma | EEF1A1P1, EEF1A1P5, EEF1A1P12, EEF1A1P14, EEF1A1P21, EEF1A1P26, EEF1A1P27, EEF1A1P32, EEF1A1P37, EEF1A1P38, EEF1A1P39 | |||
| Digestive organs | Gastric cancer/stomach adenocarcinoma (STAD) | EEF1A1P16, EEF1A1P38 | ||
| Rectum adenocarcinoma (READ) | EEF1DP3, EEF1A1P6, EEF1A1P14 | |||
| Colon adenocarcinoma (COAD) | EEF1DP4, EEF1A1P2, EEF1A1P11, EEF1A1P29 | |||
| Liver hepatocellular carcinoma (LIHC) | EEF1B2P2, EEF1DP3, LOC729998, EEF1A1P5, EEF1A1P6, EEF1A1P7, EEF1A1P9, EEF1A1P12, EEF1A1P14, EEF1A1P19, EEF1A1P42 | |||
| Pancreatic adenocarcinoma (PAAD) | EEF1DP3 | |||
| Respiratory system and intrathoracic organs | Lung adenocarcinoma (LUAD) | EEF1DP3, EEF1A1P11, EEF1A1P29 | ||
| Lung squamous cell carcinoma (LUSC) | EEF1DP3 | |||
| Mesothelioma (MESO) | EEF1DP3 | |||
| Non-squamous non-small cell lung cancer (NSCLC) | EEF1B2P1, EEF1DP3 | |||
| Skin | Skin cutaneous melanoma (SKCM) | EEF1DP1, EEF1DP2, EEF1DP3, EEF1A1P9, LOC401677 | ||
| Bones, joints and articular cartilage | Bone osteosarcoma | EEF1B2P2, EEF1DP1, EEF1DP4, EEF1DP5, EEF1GP1, EEF1GP5, EEF1A1P1, EEF1A1P9, EEF1A1P11, EEF1A1P12 | ||
| Connective, subcutaneous and other soft tissues | Sarcoma (SARC) | EEF1DP3 | ||
| Eye, brain and other parts of central nervous system | Glioma | EEF1DP3, EEF1DP4, EEF1A1P9, EEF1A1P16 | ||
| Peripheral nerves and autonomic nervous system | Primary myelofibrosis | EEF1DP4 | ||
| Breast | Breast carcinoma (BRCA) | EEF1DP3, EEF1DP4, EEF1DP5, EEF1A1P7, EEF1A1P14, EEF1A1P29 | ||
| Female genital organs | Ovarian cancer | EEF1A1P14 | ||
| Uterine cancer/carcinosarcoma (UCS)/ | EEF1A1P2, EEF1DP3 | |||
| Cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC) | EEF1DP3, EEF1A1P9 | |||
| Male genital organs | Prostate carcinoma (PRAD) | EEF1DP3, EEF1GP5, EEF1A1P9, EEF1A1P29 | ||
| Urinary tract | Adrenocortical carcinoma (ACC) | EEF1DP3 | ||
| Bladder cancer/urothelial carcinoma (BLCA) | EEF1A1P2, EEF1DP3 | |||
| Chromophobe renal cell carcinoma (KICH) | EEF1DP3 | |||
| Kidney renal clear cell carcinoma (KIRC) | EEF1DP3, EEF1A1P9 | |||
| Kidney renal papillary cell carcinoma (KIRP) | EEF1DP3 | |||
| Thyroid and other endocrine glands | Pheochromocytoma and Paraganglioma (PCPG) | EEF1DP3 | ||
| Other and ill-defined sites | Head and neck squamous cell carcinoma (HNSC) | EEF1DP3 | ||
| Hematological malignancies | Lymphoid neoplasm diffuse large B-cell lymphoma (DLBC) | EEF1DP1, EEF1DP3, LOC729998, EEF1A1P42 | ||
| Acute lymphoblastic leukemia | EEF1A1P9, EEF1A1P24, | |||
| Leukemia | EEF1A1P29 | |||
| Multiple myeloma | EEF1A1P6, EEF1A1P12, EEF1A1P22 | |||
| Acute myeloid leukemia (LAML) | EEF1B2P2, EEF1DP1, EEF1DP3, EEF1DP6, LOC729998, EEF1A1P42 | |||
| EBV-positive T/NK-cell lymphoma | EEF1A1P28 | |||
| Other human diseases | Infectious Agents | HIV-1 reverse transcription cofactor | EEF1B2P2 | |
| Hepatitis E virus cofactor | EEF1A1P5 | |||
| Mental, behavioural or neurodevelopmental disorders | Autism spectrum disorders | EEF1A1P9 | ||
| Schizophrenia | EEF1A1P6 | |||
| Developmental anomalies | Neuropathy in Charcot-Marie-Tooth disease type 1A | EEF1DP6 | ||
| Smith-Magenis syndrome | EEF1A1P43 | |||
| Diseases of the musculoskeletal system or connective tissue | Ankylosing spondylitis | EEF1DP3 | ||
| Systemic juvenile idiopathic arthritis | EEF1DP6 | |||
| Diseases of the nervous system | Synucleinopathy and Parkinson's disease | EEF1DP3 | ||
| Multiple sclerosis | EEF1DP3 | |||
| Duchenne muscular dystrophy | EEF1GP5, EEF1A1P9 | |||
| Epilepsy | EEF1A1P12 | |||
| Diseases of the skin | Epidermolysis bullosa simplex | EEF1DP3 | ||
| Diseases of the digestive system | Celiac disease | EEF1A1P1 | ||
| Nonalcoholic fatty liver disease | EEF1A1P20 | |||
| Endocrine, nutritional or metabolic diseases | Type 2 diabetes mellitus | EEF1A1P11, EEF1A1P26 | ||
| Diseases of the circulatory system | Coronary artery disease | EEF1E1P1 | ||