Cell type atlas - DYSF - The Human Protein Atlas

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DYSF

SUMMARY

TISSUE

CELL TYPE

PATHOLOGY

BRAIN

BLOOD

CELL

GENERAL INFORMATIONⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	DYSF
Gene descriptionⁱ Full gene name according to HGNC.	Dysferlin
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Potential drug targets Transporters
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location. Read more	Membrane
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	11

HUMAN PROTEIN ATLAS INFORMATIONⁱ Summary of RNA expression and protein localization based on data generated within the Human Protein Atlas project.
Single cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (Syncytiotrophoblasts, Ito cells, Endothelial cells, Kupffer cells, Cardiomyocytes)
Blood cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enriched (neutrophil)
Blood cell distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in some
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.	Group enriched (hTERT-RPE1, HUVEC TERT2, LHCN-M2, RH-30, TIME)
Cell line distributionⁱ RNA distribution category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into five different categories (detected in all, detected in many, detected in some, detected in single and not detected) according to their pattern of detected RNA expression across the panel of cell lines.	Detected in some
Protein evidenceⁱ Evidence score for genes based on UniProt protein existence (UniProt evidence); a Human Protein Atlas antibody- or RNA based score (HPA evidence); and evidence based on PeptideAtlas (MS evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable. Read more	Evidence at protein level

SINGLE CELL TYPESⁱ A summary of single cell RNA (NX) from all single cell types. Color-coding is based on cell type groups, each consisting of cell types with functional features in common.
Single cell types Group Expression Alphabetical RNA single cell type specificity: Cell type enhanced (Syncytiotrophoblasts, Ito cells, Endothelial cells, Kupffer cells, Cardiomyocytes)

SINGLE CELL TISSUESⁱ Single cell RNA in cell types from tissue are shown separately for each analyzed tissue. For easier navigation across tissues, use the grey browser on the left side of the window. Barchart shows pTPM levels in each cluster of single cells. To the left, a UMAP plot illustrates the RNA expression profile. The tissue name and plots are clickable and redirect to a more detailed interactive page. Color-coding is based on cell type groups, each consisting of cell types with functional features in common. Please note that the same cell type may be found in several clusters.
Cluster Expression Alphabetical Colon
Cluster Expression Alphabetical Eye
Cluster Expression Alphabetical Heart muscle
Cluster Expression Alphabetical Kidney
Cluster Expression Alphabetical Liver
Cluster Expression Alphabetical Lung
Cluster Expression Alphabetical Pancreas
Cluster Expression Alphabetical Placenta
Cluster Expression Alphabetical Prostate
Cluster Expression Alphabetical Rectum
Cluster Expression Alphabetical Skin
Cluster Expression Alphabetical Small intestine
Cluster Expression Alphabetical Testis

BLOODⁱ

Single cell data

Cluster

Expression

Alphabetical

PBMC

Flow sorted data

Lineage

Expression

Alphabetical

CELL LINESⁱ RNA expression data (NX) of tissue culture cell lines.The analyzed cell lines are divided into 16 color-coded groups according to the organ they were obtained from. Detailed information about a specific cell line is revealed by hovering over the corresponding bar in the chart. The chart is clickable and redirects to more Cell Atlas data. Read more
Organ Expression Alphabetical

Alveolar cells type 1	3 NX
Lung	3 NX

Alveolar cells type 2	14 NX
Lung	14 NX

B-cells	1 NX
Kidney	9 NX
Liver	1 NX
Colon	0 NX

Basal glandular cells	0 NX
Prostate	0 NX

Basal keratinocytes	2 NX
Skin	2 NX

Bipolar cells	1 NX
Eye	1 NX

Cardiomyocytes	20 NX
Heart muscle	20 NX

Cholangiocytes	0 NX
Liver	0 NX

Ciliated cells	1 NX
Lung	1 NX

Club cells	2 NX
Lung	2 NX

Collecting duct cells	0 NX
Kidney	0 NX

Cone photoreceptor cells	0 NX
Eye	0 NX

Cytotrophoblasts	5 NX
Placenta	5 NX

Distal tubular cells	0 NX
Kidney	0 NX

Ductal cells	0 NX
Pancreas	0 NX

Early spermatids	4 NX
Testis	4 NX

Endothelial cells	22 NX
Testis	63 NX
Pancreas	61 NX
Placenta	51 NX
Skin	34 NX
Heart muscle	29 NX
Lung	20 NX
Liver	18 NX
Prostate	17 NX
Eye	2 NX

Enterocytes	0 NX
Rectum	0 NX
Colon	0 NX
Small intestine	0 NX

Erythroid cells	0 NX
Liver	0 NX

Exocrine glandular cells	0 NX
Pancreas	0 NX

Extravillous trophoblasts	3 NX
Placenta	3 NX

Fibroblasts	1 NX
Heart muscle	6 NX
Lung	2 NX
Skin	2 NX
Placenta	1 NX
Prostate	0 NX

Glandular cells	0 NX
Prostate	0 NX

Granulocytes	2 NX
Lung	5 NX
Colon	0 NX

Hepatocytes	10 NX
Liver	10 NX

Hofbauer cells	11 NX
Placenta	11 NX

Horizontal cells	0 NX
Eye	0 NX

Intestinal endocrine cells	0 NX
Colon	0 NX
Rectum	0 NX

Ito cells	34 NX
Liver	34 NX

Kupffer cells	21 NX
Liver	21 NX

Late spermatids	4 NX
Testis	4 NX

Leydig cells	1 NX
Testis	1 NX

Macrophages	2 NX
Lung	11 NX
Kidney	10 NX
Pancreas	2 NX
Skin	1 NX
Testis	1 NX
Prostate	0 NX

Melanocytes	0 NX
Skin	0 NX

Mixed cell types	NX
Pancreas	NX

Mixed immune cells	NX
Heart muscle	NX

Monocytes	0 NX
Pancreas	0 NX

Mucus-secreting cells	0 NX
Colon	1 NX
Rectum	0 NX
Small intestine	0 NX

Muller glia cells	0 NX
Eye	0 NX

Pancreatic endocrine cells	0 NX
Pancreas	0 NX

Paneth cells	0 NX
Colon	0 NX
Rectum	0 NX
Small intestine	0 NX

Peritubular cells	1 NX
Testis	1 NX

Proximal tubular cells	2 NX
Kidney	2 NX

Rod photoreceptor cells	0 NX
Eye	0 NX

Sertoli cells	7 NX
Testis	7 NX

Smooth muscle cells	3 NX
Heart muscle	11 NX
Skin	6 NX
Prostate	3 NX
Pancreas	1 NX

Spermatocytes	1 NX
Testis	1 NX

Spermatogonia	0 NX
Testis	0 NX

Suprabasal keratinocytes	1 NX
Skin	1 NX

Syncytiotrophoblasts	55 NX
Placenta	55 NX

T-cells	1 NX
Lung	3 NX
Skin	2 NX
Liver	1 NX
Kidney	1 NX
Colon	1 NX
Prostate	0 NX

Undifferentiated cells	0 NX
Rectum	0 NX
Small intestine	0 NX
Colon	0 NX

Urothelial cells	0 NX
Prostate	0 NX

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.