This database is called scMitoV, and the full name is 'Single-cell resolution landscape of mitochondrial variants in human disease'. The icon on the left side of the image is the logo of this database, depicting a mitochondrion and a circle DNA. Inside the logo is the name of the database. The right side of the image shows the full name.

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About scMitoV

Here is an schematic overview of this database. The top left of the image shows the 28 tissues included in this database, including cerebellum, cerebral cortex, cerebrospinal fluid, midbrain, thyroid, breast, esophagus, lung, liver, pancreas, callbladder, bile duct, stomach, thymus, spleen, lymph node, kidney, intestine, bladder, prostate, testis, cervix, endometrium, ovary, blood, bone marrow, and skin. The bar chart in the upper right of the image shows the dataset and sample size for each tissue. The center of the image shows the logo and name of the database. The lower left of the image shows that users can search by genomic position and dbSNP ID, as well as browse by gene, disease, and functional analysis. The right right of the image shows four functional analyses, including 'Overview of frequency', 'Characteristics of variants','Overview of variants in cell types', and 'Disease-related variants', and one variant annotation, 'Pathogenicity and other diseases annotation for each variant'.

   Increasing evidence suggests that mitochondrial variants have a significant impact on human disease. The emergence and development of single-cell technology enable us to investigate the mitochondrial variants at the individual cell and cell type levels. Therefore, we established scMitoV, which aims to offer a comprehensive atlas of mitochondrial variants at single-cell resolution across different tissues and diseases.
   The current version of the scMitoV database includes 865 samples (562 disease and 303 normal samples) from 77 datasets, covering 21 human tissues and 37 primary diseases. These included 23 cancers, 4 neurodegenerative diseases, 6 metabolic diseases, and 4 autoimmune diseases. We identified disease-related mitochondrial variants by comparing the disease group and the normal group in different cell types for each disease.

   In addition, we described the characteristics of each disease's mtDNA mutation in several aspects. First, we systematically characterized the mutation frequencies at each genomic location in both disease and normal samples. We compared the proportion of mutation types in different cell types in the disease group. Additionally, we depicted the mutations in different cell types in both disease and normal samples. scMitoV will serve as a significant asset for disease research, providing insight into the complex molecular and cellular changes that characterize various diseases, and an important tool for finding potential mitochondrial biomarkers and drug targets.

bullet pointSearch

E.g. SNP: MT9055G>A, MT2617a>T|C|G;
       INDEL: MT9794A>-1T, MT3158A>+1T, MT2617a>T|G|+1G

Please enter a number or a range between 1 and 16569.
E.g. 9055 or 9055-9065

E.g. rs193303045

bullet pointBrowse by gene

   Each entry has an annotation for the gene, as well as two tables that list the variants of the gene in different cell types and diseases. Only variants present in at least 5 cells of at least one cell type for at least one disease are shown.

   • Protein-coding gene

MT-ND1

MT-ND2

MT-ND3

MT-ND4L

MT-ND4

MT-ND5

MT-ND6

MT-CYB

MT-CO1

MT-CO2

MT-CO3

MT-ATP6

MT-ATP8

   • tRNA-coding gene

MT-TA

MT-TR

MT-TN

MT-TD

MT-TC

MT-TE

MT-TQ

MT-TG

MT-TH

MT-TI

MT-TL1

MT-TL2

MT-TK

MT-TM

MT-TF

MT-TP

MT-TS1

MT-TS2

MT-TT

MT-TW

MT-TY

MT-TV

   • rRNA-coding gene

MT-RNR1

MT-RNR2

bullet pointBrowse by disease

   Each entry shows the results of the variant analysis for each disease.

Neurodegenerative diseases
  • Brain

Alzheimer's Disease

Parkinson's Disease

Major Depressive Disorder

Neurosurgical Disease

Cancers
  • Adrenal Gland

Neuroblastoma

  • Bladder

Bladder Cancer

  • Breast

Ductal Carcinoma In Situ

Triple-Negative Breast Cancer

  • Cervix

Cervical Cancer

High-Grade Squamous Intraepithelial Lesions

  • Colon

Colorectal Cancer

  • Gastric

Gastric Adenocarcinoma

  • Head and neck

Head and Neck
Squamous Cell Carcinoma

Nasopharyngeal Carcinoma

Oral Squamous Cell Carcinoma

  • Kidney

Clear Cell Renal Cell Carcinoma

  • Liver

Hepatocellular Carcinoma

Intrahepatic Cholangiocarcinoma

  • Lung

Lung Adenocarcinoma

  • Lung_SmartSeq

Lung Adenocarcinoma_SmartSeq

  • Ovary

High-Grade Serous Ovarian Cancer

  • Pancreas

Pancreatic Ductal Adenocarcinoma

  • Prostate

Prostate Cancer

  • Uterus

Endometrial Carcinoma

Endometrioma

Endometriosis

Fibroid Tumor

Autoimmune diseases
  • Brain

Multiple Sclerosis

  • Ileum

Crohn's Disease

  • Pancreatic islet

Pre-T1D

Type 1 Diabetes

Metabolic disorders
  • Adipose

Type 2 Diabetes Adipose

  • Blood Vessel

Atherogenesis

  • Heart

Dilated Cardiomyopathy

Myocardial Infarction

  • Pancreatic islet

Pre-T2D

Type 2 Diabetes

bullet pointBrowse by functional analysis

   Each entry shows results for all diseases in each category. Only the "Mitochondrial variants that have been studied in association with other diseases" module shows tables of variants and associated other diseases.

   • Overview of variant frequencies at each mtDNA location in disease and normal groups.
   • Overview of variants in different cell types in disease and normal groups.
   • Comparison of variant types between different cell types in disease group.
   • Manhattan plot of variants with statistical differences in each disease.
   • Mitochondrial variants that have been studied in association with other diseases.