Single cell type - BBS7 - The Human Protein Atlas

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.	BBS7
Gene descriptionⁱ Full gene name according to HGNC.	Bardet-Biedl syndrome 7
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Human disease related genes Plasma proteins
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	Intracellular
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	3

HUMAN PROTEIN ATLAS INFORMATIONⁱ Summary of RNA expression and protein localization based on data generated within the Human Protein Atlas project.
Single cell type expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Photoreceptor cells - Phototransduction (mainly)
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 (Rod photoreceptor cells, Excitatory neurons, Inhibitory neurons)
Immune 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	Low immune cell specificity
Immune 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 many
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. Read more	Low cell line specificity
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. Read more	Detected in all
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 (nTPM) 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 (Rod photoreceptor cells, Excitatory neurons, Inhibitory neurons)

SINGLE CELL TISSUES OVERVIEWⁱ An overview of all tissues where single cell type expression has been analyzed. Each tissue name and corresponding UMAP plot is clickable and redirects to the selected tissue.
Adipose tissue Bone marrow Brain Breast Bronchus Colon Endometrium Esophagus Eye Heart muscle Kidney Liver Lung Lymph node Ovary Pancreas Placenta Prostate Rectum Skeletal muscle Skin Small intestine Spleen Stomach Testis

EXPRESSION CLUSTERING & CORRELATIONⁱ

BBS7 is part of cluster 46 Photoreceptor cells - Phototransduction with confidenceⁱ 1
209 genes in cluster

Go to interactive expression cluster page

15 nearest neighbours based on single cell type RNA expression

Neighbourⁱ Gene name according to HGNC.	Descriptionⁱ Gene description according to HGNC.	Correlationⁱ Correlation between the selected gene and neighboring gene. Correlation is calculated as Spearman correlation in PCA space based on the RNA-seq expression data. Read more	Clusterⁱ ID of the expression cluster of the neighboring gene. Read more
INSM2	INSM transcriptional repressor 2	0.7470	46
RIMS2	Regulating synaptic membrane exocytosis 2	0.6850	46
IGFL4	IGF like family member 4	0.6831	46
AP3B2	Adaptor related protein complex 3 subunit beta 2	0.6594	46
MAP2	Microtubule associated protein 2	0.6106	8
ELOVL4	ELOVL fatty acid elongase 4	0.6051	46
KCNB1	Potassium voltage-gated channel subfamily B member 1	0.5925	46
RASAL2	RAS protein activator like 2	0.5908	21
FBXO16	F-box protein 16	0.5798	46
LYG2	Lysozyme g2	0.5769	46
KIAA1841	KIAA1841	0.5765	9
ACSM6	Acyl-CoA synthetase medium chain family member 6	0.5762	46
NEFL	Neurofilament light	0.5729	46
TLX2	T cell leukemia homeobox 2	0.5577	9
SPTBN4	Spectrin beta, non-erythrocytic 4	0.5573	8

SINGLE CELL TISSUESⁱ Single cell RNA levels of annotated cell type clusters are shown separately for each analyzed tissue. For easier navigation across tissues, use the above Single cell tissue overview, where each tissue name and UMAP plot is clickable and redirects to the selected tissue, alternatively the grey browser on the left side of the window. Barchart shows nTPM levels in each annotated 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 Adipose tissue
Cluster Expression Alphabetical Bone marrow
Cluster Expression Alphabetical Brain
Cluster Expression Alphabetical Breast
Cluster Expression Alphabetical Bronchus
Cluster Expression Alphabetical Colon
Cluster Expression Alphabetical Endometrium
Cluster Expression Alphabetical Esophagus
Cluster Expression Alphabetical Eye
Cluster Expression Alphabetical Heart muscle
Cluster Expression Alphabetical Kidney
Cluster Expression Alphabetical Liver
Cluster Expression Alphabetical Lung
Cluster Expression Alphabetical Lymph node
Cluster Expression Alphabetical Ovary
Cluster Expression Alphabetical Pancreas
Cluster Expression Alphabetical Placenta
Cluster Expression Alphabetical Prostate
Cluster Expression Alphabetical Rectum
Cluster Expression Alphabetical Skeletal muscle
Cluster Expression Alphabetical Skin
Cluster Expression Alphabetical Small intestine
Cluster Expression Alphabetical Spleen
Cluster Expression Alphabetical Stomach
Cluster Expression Alphabetical Testis

BLOODⁱ

Single cell data

Cluster

Expression

Alphabetical

PBMC

Flow sorted data

Lineage

Expression

Alphabetical

CELL LINESⁱ

Organ

Expression

Alphabetical

Adipocytes	15.7 nTPM
Breast	17.0 nTPM
Adipose tissue	14.4 nTPM

Alveolar cells type 1	6.4 nTPM
Lung	6.4 nTPM

Alveolar cells type 2	8.4 nTPM
Lung	8.4 nTPM

Astrocytes	12.7 nTPM
Brain	12.7 nTPM

B-cells	6.9 nTPM
Adipose tissue	12.6 nTPM
Bone marrow	9.8 nTPM
Spleen	8.6 nTPM
Colon	8.0 nTPM
Stomach	7.7 nTPM
Liver	7.1 nTPM
Breast	5.3 nTPM
Lymph node	5.2 nTPM
PBMC	4.3 nTPM
Kidney	0.0 nTPM

Dendritic cells	6.6 nTPM
Adipose tissue	9.0 nTPM
Breast	6.9 nTPM
PBMC	4.0 nTPM

Endothelial cells	11.2 nTPM
Pancreas	15.5 nTPM
Esophagus	13.4 nTPM
Ovary	12.3 nTPM
Eye	12.2 nTPM
Endometrium	12.0 nTPM
Prostate	11.9 nTPM
Skeletal muscle	11.6 nTPM
Skin	11.1 nTPM
Testis	10.9 nTPM
Breast	10.9 nTPM
Heart muscle	10.7 nTPM
Liver	9.2 nTPM
Placenta	9.1 nTPM
Lung	6.2 nTPM

Fibroblasts	14.4 nTPM
Adipose tissue	20.2 nTPM
Skeletal muscle	18.7 nTPM
Esophagus	18.7 nTPM
Prostate	16.3 nTPM
Ovary	14.2 nTPM
Placenta	13.7 nTPM
Breast	13.6 nTPM
Skin	11.9 nTPM
Lung	11.1 nTPM
Stomach	10.4 nTPM
Heart muscle	10.1 nTPM

Intestinal goblet cells	8.2 nTPM
Small intestine	9.5 nTPM
Rectum	7.9 nTPM
Colon	7.2 nTPM

Macrophages	7.7 nTPM
Lung	12.7 nTPM
Spleen	11.4 nTPM
Ovary	11.2 nTPM
Pancreas	10.2 nTPM
Stomach	8.8 nTPM
Endometrium	8.5 nTPM
Adipose tissue	8.3 nTPM
Testis	8.1 nTPM
Skeletal muscle	7.5 nTPM
Bone marrow	7.5 nTPM
Kidney	6.1 nTPM
Breast	6.1 nTPM
Prostate	5.7 nTPM
Esophagus	3.1 nTPM
PBMC	0.0 nTPM

Paneth cells	5.1 nTPM
Rectum	8.2 nTPM
Small intestine	3.7 nTPM
Colon	3.3 nTPM

Plasma cells	5.6 nTPM
Spleen	10.4 nTPM
Esophagus	6.1 nTPM
Stomach	5.3 nTPM
Bone marrow	3.3 nTPM
Adipose tissue	2.7 nTPM

Respiratory ciliated cells	16.5 nTPM
Lung	19.0 nTPM
Bronchus	14.0 nTPM

Smooth muscle cells	15.2 nTPM
Pancreas	20.5 nTPM
Breast	19.7 nTPM
Adipose tissue	18.8 nTPM
Endometrium	18.2 nTPM
Ovary	18.2 nTPM
Skeletal muscle	16.9 nTPM
Skin	16.4 nTPM
Prostate	11.2 nTPM
Esophagus	10.9 nTPM
Heart muscle	10.3 nTPM
Bronchus	5.7 nTPM

T-cells	10.7 nTPM
Stomach	17.3 nTPM
Adipose tissue	17.0 nTPM
Skin	14.7 nTPM
Ovary	13.4 nTPM
Colon	13.3 nTPM
Esophagus	13.1 nTPM
Skeletal muscle	10.7 nTPM
Lung	10.6 nTPM
Endometrium	9.8 nTPM
Prostate	9.5 nTPM
Bone marrow	9.5 nTPM
Spleen	9.4 nTPM
Breast	9.0 nTPM
Kidney	8.2 nTPM
Lymph node	6.3 nTPM
Liver	5.5 nTPM
PBMC	4.3 nTPM

Basal keratinocytes	8.7 nTPM
Skin	8.7 nTPM

Basal prostatic cells	10.8 nTPM
Prostate	10.8 nTPM

Collecting duct cells	11.0 nTPM
Kidney	11.0 nTPM

Early spermatids	22.2 nTPM
Testis	22.2 nTPM

Undifferentiated cells	8.4 nTPM
Small intestine	10.2 nTPM
Rectum	8.4 nTPM
Colon	6.7 nTPM

Adipose tissue

Bone marrow

Brain

Breast

Bronchus

Colon

Endometrium

Esophagus

Eye

Heart muscle

Kidney

Liver

Lung

Lymph node

Ovary

Pancreas

Placenta

Prostate

Rectum

Skeletal muscle

Skin

Small intestine

Spleen

Stomach

Testis

PBMC