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SPG11
HPA
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  • SUMMARY

  • TISSUE

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  • SPG11
SINGLE CELL SINGLE CELL TYPES TISSUE CELL TYPE SINGLE NUCLEI BRAIN IMMUNE CELLS EXPRESSION CLUSTER TISSUES Show tissue menu
ADIPOSE TISSUE ADRENAL GLAND BLOOD BONE MARROW BRAIN BREAST COLON ENDOMETRIUM EPIDIDYMIS ESOPHAGUS
EYE FALLOPIAN TUBE HEART MUSCLE KIDNEY LIVER LUNG LYMPH NODE OVARY PANCREAS PITUITARY GLAND
PLACENTA PROSTATE RECTUM SALIVARY GLAND SKELETAL MUSCLE SKIN SMALL INTESTINE SPLEEN STOMACH TESTIS
THYMUS THYROID GLAND TONGUE URINARY BLADDER VASCULATURE
Single cell type
Tabula sapiens
Tissue cell type
Cell type
Proteome
Methods
Cell type enrichment
Cell types
Methods
Brain cells
Cluster types
Methods
Immune cells
Immune cells
Methods
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.

SPG11
Gene descriptioni

Full gene name according to HGNC.

SPG11 vesicle trafficking associated, spatacsin
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Human disease related genes
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.

Membrane, Intracellular
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
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.

Neutrophils - Innate immunity signal integration (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.

Cell type enhanced (Neutrophils)
Tau specificity scorei

Tau specificity score is a numerical indicator of the specificity of the gene expression across cells or tissues. The value ranges from 0 and 1, where 0 indicates identical expression across all cells/tissue types, while 1 indicates expression in a single cell/tissue type.

0.29
Brain cluster specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell cluster types based on snRNA-seq data from brain samples. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. "cell type" refer to one of the 34 cluster names used to summarize the 2.5 million cells included in the brain cell representation.

Low cell type specificity
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.

Low immune cell specificity
Protein evidencei

Evidence score for genes based on UniProt protein existence (UniProt evidence); neXtProt protein existence (neXtProt evidence);and a Human Protein Atlas antibody- or RNA based score (HPA evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable.

Evidence at protein level
ASSAYSi

Overview of the different datasets included in the Single Cell resource.

Single cell type
Cell type enrichment
Single nuclei - Brain
Immune cells
Expression clustering
SINGLE CELL TYPESi

A summary of normalized single cell RNA (nCPM) from all single cell types. Color-coding is based on cell type groups, each consisting of cell types with functional features in common.

* Single nuclei
Read more
Single cell type groups
RNA single cell type group specificity: Cell type enhanced (Neutrophils)
TISSUE CELL TYPEi

The tissue cell type section provides a cell type specificity prediction for all protein coding genes. More information on the data available can be found here and a description of the analysis here.

Core cell typesi

The core cell type table displays data for a panel of eight cell types that are found in many tissues.

Colored dots indicate that the selected gene has core cell type specificity in the indicated tissue. Grey dots indicate that cell type is present within that tissue, but the selected gene is not predicted to be enriched there.

Category
Alphabetical
Enrichment
Tissue specific cell typesi

This plot shows the enrichment score of the selected gene in all non-core cell types found within the profiled tissues, allowing comparisons between different cell types within different tissues.

An enlarged symbol indicates classification of the gene as cell type enriched in the corresponding cell type.

SINGLE NUCLEI BRAINi

A summary of normalized single nuclei RNA (nTPM) from the brain single nuclei. Color-coding is based on cell type groups (as defined in the single cell type data representing the whole body), in this case separated into the main cell categories of neuron, glial cells, endothelial cells, fibroblasts and muscle cell (vascular smooth muscle cells and pericytes).

The data is based on Siletti K et al. (2023) public data.

Single nuclei cluster types
RNA brain cluster specificity: Low cell type specificity
IMMUNE CELL TYPE EXPRESSION (RNA)i

Blood cell type expression overview shows RNA-seq data from three different sources: Internally generated Human Protein Atlas HPA data, as well as data generated by Monaco et al and Schmiedel et al). Color-coding is based on blood cell type lineages, including B-cells, T-cells, NK-cells, monocytes, granulocytes and dendritic cells as well as total PBMC. To access sample data, click on tissue name or bar.

HPA dataseti

The resulting transcript expression values calculated as nTPM, resulting from the internal normalization pipeline for 18 immune cell types and total peripheral blood mononuclear cells (PBMC).

Lineage
Expression
Alphabetical
Immune cell type specificity: Low immune cell specificity
Monaco dataseti

The transcript expression values (nTPM) resulting from the internal normalization pipeline are visualized for 29 blood cell types and total peripheral blood mononuclear cells (PBMC) from Monaco et al.

Lineage
Expression
Alphabetical
Schmiedel dataseti

Transcript Per Million (TPM) values are visualized for 15 blood cell types from the Schmiedel et al. dataset.

Lineage
Expression
Alphabetical
EXPRESSION CLUSTERING & CORRELATIONi

The RNA data was used to cluster genes according to their expression across samples. The resulting clusters have been manually annotated to describe common features in terms of function and specificity. The annotation of the cluster is displayed together with a confidence score of the gene's assignment to the cluster. The confidence is calculated as the fraction of times the gene was assigned to this cluster in repeated calculations and is reported between 0 to 1, where 1 is the highest possible confidence. The clustering results are shown in a UMAP, where the cluster this gene was assigned to is highlighted as a colored area in which most of the cluster genes reside. A table shows the 15 most similar genes in terms of expression profile.

SINGLE CELL TYPE
SPG11 is part of cluster 24 Neutrophils - Innate immunity signal integration with confidencei

Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and therefore reflects how strongly associated it is to the cluster. A confidence of 1 indicates that the gene was assigned to this cluster in all repeated clusterings.

1
352 genes in cluster
Go to interactive expression cluster page
15 nearest neighbours based on single cell 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.

Clusteri

ID of the expression cluster of the neighboring gene.

SSH2 Slingshot protein phosphatase 2 0.5717 24
FBXO38 F-box protein 38 0.5498 24
DPYD Dihydropyrimidine dehydrogenase 0.5290 24
NFAM1 NFAT activating protein with ITAM motif 1 0.5138 24
LY75-CD302 LY75-CD302 readthrough 0.5094 24
HRH2 Histamine receptor H2 0.4971 24
AKAP10 A-kinase anchoring protein 10 0.4951 24
PHF21A PHD finger protein 21A 0.4928 24
TFEB Transcription factor EB 0.4892 24
SLC35E3 Solute carrier family 35 member E3 0.4874 24
PAN3 Poly(A) specific ribonuclease subunit PAN3 0.4702 24
MARK2 Microtubule affinity regulating kinase 2 0.4693 24
ENSG00000282804 Novel protein 0.4682 24
DPEP2 Dipeptidase 2 0.4648 24
ZNF148 Zinc finger protein 148 0.4606 24
IMMUNE CELLS
SPG11 is part of cluster 25 Non-specific - Unknown function with confidencei

Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and therefore reflects how strongly associated it is to the cluster. A confidence of 1 indicates that the gene was assigned to this cluster in all repeated clusterings.

0.86
355 genes in cluster
Go to interactive expression cluster page
15 nearest neighbours based on single cell 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.

Clusteri

ID of the expression cluster of the neighboring gene.

EDN1 Endothelin 1 1.0000 25
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 1.0000 25
NECAB3 N-terminal EF-hand calcium binding protein 3 0.9762 25
FNDC10 Fibronectin type III domain containing 10 0.9762 25
RAB11B RAB11B, member RAS oncogene family 0.9762 25
BEGAIN Brain enriched guanylate kinase associated 0.9762 29
RMDN1 Regulator of microtubule dynamics 1 0.9762 25
CRELD1 Cysteine rich with EGF like domains 1 0.9762 25
GXYLT1 Glucoside xylosyltransferase 1 0.9762 25
PPCDC Phosphopantothenoylcysteine decarboxylase 0.9762 25
IL18BP Interleukin 18 binding protein 0.9762 25
POLDIP2 DNA polymerase delta interacting protein 2 0.9762 25
INSIG2 Insulin induced gene 2 0.9762 25
PEDS1-UBE2V1 PEDS1-UBE2V1 readthrough 0.9762 25
ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 0.9762 25
 

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