[{"Gene":"OTOF","Gene synonym":["DFNB6","DFNB9","FER1L2"],"Ensembl":"ENSG00000115155","Gene description":"Otoferlin","Uniprot":["Q9HC10"],"Chromosome":"2","Position":"26457203-26558756","Protein class":["Disease related genes","Human disease related genes","Plasma proteins","Predicted intracellular proteins","Predicted membrane proteins"],"Biological process":["Hearing"],"Molecular function":null,"Disease involvement":["Deafness","Disease variant","Neuropathy","Non-syndromic deafness"],"Evidence":"Evidence at protein level","HPA evidence":"Evidence at transcript level","UniProt evidence":"Evidence at protein level","NeXtProt evidence":"Evidence at protein level","RNA tissue specificity":"Group enriched","RNA tissue distribution":"Detected in some","RNA tissue specificity score":"13","RNA tissue specific nTPM":{"bone marrow":"6.1","brain":"20.8"},"RNA single cell type specificity":"Cell type enriched","RNA single cell type distribution":"Detected in some","RNA single cell type specificity score":"4","RNA single cell type specific nCPM":{"Brain inhibitory neurons":"46.9"},"RNA single cell type group specificity":"Cell type enriched","RNA single cell type group distribution":"Detected in some","RNA single cell type group specificity score":"7","RNA single cell type group specific nCPM":{"Neuronal cells":"46.9"},"RNA single nuclei brain specificity":"Group enriched","RNA single nuclei brain distribution":"Detected in many","RNA single nuclei brain specificity score":"5","RNA single nuclei brain specific nCPM":{"eccentric medium spiny neuron":"169.3","medium spiny neuron":"116.2"},"RNA cancer specificity":"Low cancer specificity","RNA cancer distribution":"Detected in some","RNA cancer specificity score":null,"RNA cancer specific pTPM":null,"RNA brain regional specificity":"Low region specificity","RNA brain regional distribution":"Detected in many","RNA brain regional specificity score":null,"RNA brain regional specific nTPM":null,"RNA blood cell specificity":"Not detected in immune cells","RNA blood cell distribution":"Not detected","RNA blood cell specificity score":null,"RNA blood cell specific nTPM":null,"RNA blood lineage specificity":"Not detected","RNA blood lineage distribution":"Not detected","RNA blood lineage specificity score":null,"RNA blood lineage specific nTPM":null,"RNA cell line specificity":"Cancer enhanced","RNA cell line distribution":"Detected in some","RNA cell line specificity score":null,"RNA cell line specific nTPM":{"Leukemia":"2.3","lymphoma":"1.9"},"RNA tissue cell type enrichment":["Colon - Colon enteroendocrine cells"],"RNA mouse brain regional specificity":"Low region specificity","RNA mouse brain regional distribution":"Detected in many","RNA mouse brain regional specificity score":null,"RNA mouse brain regional specific nTPM":null,"RNA pig brain regional specificity":"Low region specificity","RNA pig brain regional distribution":"Detected in many","RNA pig brain regional specificity score":null,"RNA pig brain regional specific nTPM":null,"Protein cell type specificity":"Not detected","Protein cell type distribution":"Not detected","Protein cell type specificity score":null,"Protein cell type specific Intensity":null,"Protein tissue specificity":"Not detected","Protein tissue distribution":"Not detected","Protein tissue specificity score":null,"Protein tissue specific Intensity":null,"Antibody":["HPA012410"],"Reliability (IH)":"Uncertain","Reliability (Mouse Brain)":null,"Reliability (IF)":null,"Subcellular location":null,"Secretome location":null,"Secretome function":null,"CCD Protein":"NA","CCD Transcript":"NA","Blood concentration - Conc. blood IM [pg\/L]":null,"Blood concentration - Conc. blood MS [pg\/L]":null,"Blood expression cluster":null,"Tissue expression cluster":"Cluster 78: Brain - Neuronal signaling","Brain expression cluster":"Cluster 33: Neurons - Mixed function","Cell line expression cluster":"Cluster 21: Lymphoma - Adaptive immune response","Single cell expression cluster":"Cluster 35: Neurons - Synaptic function & neurogenesis","Interactions":null,"Subcellular main location":null,"Subcellular additional location":null,"Antibody RRID":{"HPA012410":null},"Cancer prognostics - Bladder Urothelial Carcinoma (TCGA)":{"prognostic type":"","prognostic":"unprognostic","is_prognostic":false,"p_val":"4.51e-2"},"Cancer prognostics - Breast Invasive Carcinoma (TCGA)":null,"Cancer prognostics - Breast Invasive Carcinoma (validation)":{"prognostic type":"","prognostic":"unprognostic","is_prognostic":false,"p_val":"2.29e-1"},"Cancer prognostics - Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA)":null,"Cancer prognostics - Colon Adenocarcinoma (TCGA)":null,"Cancer prognostics - Colon Adenocarcinoma (validation)":null,"Cancer prognostics - Glioblastoma Multiforme (TCGA)":null,"Cancer prognostics - Glioblastoma Multiforme (validation)":null,"Cancer prognostics - Head and Neck Squamous Cell Carcinoma (TCGA)":null,"Cancer prognostics - Kidney Chromophobe (TCGA)":null,"Cancer prognostics - Kidney Renal Clear Cell Carcinoma (TCGA)":null,"Cancer prognostics - Kidney Renal Clear Cell Carcinoma (validation)":null,"Cancer prognostics - Kidney Renal Papillary Cell Carcinoma (TCGA)":null,"Cancer prognostics - Liver Hepatocellular Carcinoma (TCGA)":null,"Cancer prognostics - Liver Hepatocellular Carcinoma (validation)":null,"Cancer prognostics - Lung Adenocarcinoma (TCGA)":null,"Cancer prognostics - Lung Adenocarcinoma (validation)":null,"Cancer prognostics - Lung Squamous Cell Carcinoma (TCGA)":null,"Cancer prognostics - Lung Squamous Cell Carcinoma (validation)":null,"Cancer prognostics - Ovary Serous Cystadenocarcinoma (TCGA)":null,"Cancer prognostics - Ovary Serous Cystadenocarcinoma (validation)":null,"Cancer prognostics - Pancreatic Adenocarcinoma (TCGA)":null,"Cancer prognostics - Pancreatic Adenocarcinoma (validation)":null,"Cancer prognostics - Prostate Adenocarcinoma (TCGA)":null,"Cancer prognostics - Rectum Adenocarcinoma (TCGA)":null,"Cancer prognostics - Rectum Adenocarcinoma (validation)":null,"Cancer prognostics - Skin Cutaneous Melanoma (TCGA)":null,"Cancer prognostics - Stomach Adenocarcinoma (TCGA)":null,"Cancer prognostics - Testicular Germ Cell Tumor (TCGA)":{"prognostic type":"","prognostic":"unprognostic","is_prognostic":false,"p_val":"4.31e-1"},"Cancer prognostics - Thyroid Carcinoma (TCGA)":null,"Cancer prognostics - Uterine Corpus Endometrial Carcinoma (TCGA)":null}]