ATRX protein expression summary - The Human Protein Atlas

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ATRX

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HUMAN PROTEIN ATLAS SUMMARYⁱ 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.
Proteinⁱ Full gene name according to HGNC.	ATRX chromatin remodeler
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	ATRX (JMS, MRX52, RAD54, XH2, XNP)
Tissue specificityⁱ ??The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. 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	Cerebellum - Gene expression regulation (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	Low cell type specificity
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	Non-specific - Transcription (mainly)
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed blood cell 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
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category Read more	Low human brain regional specificity
Cancer prognostic summary	Gene product is not prognostic
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
Subcellular summaryⁱ Describes the main and potential additional location(s) of the encoded protein according to ICC-IF resukt in the Cell Atlas, as well as potential data regarding cell cycle depency (CCD) for the RNA and/or protein expression.	Located in Nuclear bodies
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts 1. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes 2.... show less
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Chromatin regulator, DNA-binding, Helicase, Hydrolase
Biological process (UniProt)ⁱ Keywords assigned by UniProt to proteins because they are involved in a particular biological process.	DNA damage, DNA repair, Transcription, Transcription regulation
Disease involvementⁱ Disease related keywords assigned by UniProt combined with Cancer-related genes and FDA approved drug targets Read more	Cancer-related genes, Disease variant, Mental retardation
Ligand (UniProt)ⁱ Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.	ATP-binding, Metal-binding, Nucleotide-binding, Zinc
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]... show less

TISSUEⁱ Summary of data presented in the Tissue section, with a representative image of protein expression (left) and an interactive chart showing the tissue-specific mRNA expression (right). The image and the chart are clickable and will redirect to more Tissue data. This section contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Tissue expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. 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	Cerebellum - Gene expression regulation (mainly)
Tissue specificityⁱ The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA and GTEX. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
Protein expressionⁱ A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation. "Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile. Read more	General nuclear expression.

BRAINⁱ Summary of data presented in the Brain Atlas and a representative image of mRNA expression in the human brain. The image is clickable and will redirect to more Brain Atlas data. The Brain Atlas explores the protein expression in the mammalian brain by visualization and integration of data from three mammalian species (human, pig and mouse). Transcriptomics data combined with affinity-based protein in situ localization down to single cell level is available in a brain-centric sub atlas of the Human Protein Atlas. Read more

Human regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Pig regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Mouse regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity

SINGLE CELL TYPEⁱ Summary of data presented in the Single cell Type section, with an interactive chart showing the cell type-specific mRNA expression. The chart is clickable and will redirect to more Cell Type data. This section contains information about single cell type RNA expression based on scRNAseq of human tissues. The data also covers transcriptomics analysis of human blood and cultured cell lines. Read more

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	Non-specific - Transcription (mainly)
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	Low cell type specificity

TISSUE CELL TYPEⁱ

Classificationⁱ

No predicted cell type specificity

PATHOLOGYⁱ Summary of data presented in the Pathology section, with representative images of protein expression in cancer (left) and correlation between mRNA expression and patient survival (right). Images are clickable and redirect to pages with more Pathology data. This section contains mRNA and protein expression data from 17 different forms of human cancer, as well as correlation analysis of mRNA expression and patient survival. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Prognostic summary	Gene product is not prognostic
Cancer specificityⁱ Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. Read more	Low cancer specificity
Cancer distributionⁱ Distribution of RNA expression in 17 cancer types is categorized as either detected in single, detected in some, detected in many, detected in all, or not detected. Read more	Detected in all

IMMUNE CELLⁱ Summary of data presented in the Immune Cell section and a representative image of mRNA expression in immune cells in the blood. The image is clickable and will redirect to more immune cell related data. The Immune Cell section contains information regarding single cell type mRNA expression profiles of protein-coding genes in various immune cells in the blood, e.g. B-cells and granulocytes. Read more

Immune cell 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	Non-specific - Transcription (mainly)
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

BLOOD PROTEINⁱ Summary of data presented in the Blood proteins section and a representative image of the concentration in plasma and related function for the protein in plasma. The image is clickable and will redirect to more data. The Blood proteins section contains plasma levels of proteins detected in human blood and an analysis of the human secretome (including annotation of the genes predicted to be actively secreted to human blood) is also presented. Read more
Detected in blood by immunoassayⁱ The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search. Read more	No (not applicable)
Detected in blood by mass spectrometryⁱ Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.	No
Detected in blood by proximity extension assayⁱ Detection or not of the gene in blood, based on proximity extension assays (Olink) for a longitudinal wellness study covering 76 individuals with three visits during two years. Read more	No

SUBCELLULARⁱ Summary of data presented in the Cell Atlas and a representative image of subcellular localization. The Cell Atlas provides RNA expression data derived from RNA sequencing of a large panel of cell lines and protein localization data derived from antibody-based profiling by immunofluorescence confocal microscopy, using a subset of cell lines selected based on RNA expression. Read more

Main locationⁱ Main subcellular location(s) and reliability score(s) for the encoded protein(s) in human cells. The main location(s) may be characterized by presence in all tested cell lines and/or ihigher staining intensity compared to the potential additional location(s). If available, links to overrepresentation analyses in Reactome, a free, open-source, curated and peer reviewed biological pathway database, are provided. An analysis is done for the corresponding gene set of the proteome localizing to the main and additional locations of the protein on this page, respectively. Read more	Localized to the Nuclear bodies

CELL LINEⁱ Summary of data presented in the Cell Line section and a representative image of mRNA expression across different human cell lines. The image is clickable and will redirect to more cell line data. This section contains information regarding mRNA expression profiles of human protein-coding genes for a large variety of cell lines. Read more

Cell line 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	RH-30 & LHCN-M2 - Muscle contraction (mainly)
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 type distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all

METABOLIC

Metabolic info	Not available

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	ATRX (HGNC Symbol)
Synonyms	JMS, MRX52, RAD54, XH2, XNP
Description	ATRX chromatin remodeler (HGNC Symbol)
Chromosome	X
Cytoband	q21.1
Chromosome location (bp)	77504880 - 77786233
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	11
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Cancer-related genes Disease related genes Enzymes Human disease related genes Potential drug targets Transcription factors
Ensembl	ENSG00000085224 (version 103.38)
Entrez gene	546
UniProt	P46100 (UniProt - Evidence at protein level)
neXtProt	NX_P46100
Antibodypedia	ATRX antibodies

PROTEIN BROWSERⁱ

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ATRX-201

ATRX-202

ATRX-203

ATRX-207

ATRX-208

ATRX-211

ATRX-213

ATRX-214

ATRX-216

ATRX-218

ATRX-224

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PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ATRX-201 ENSP00000362441 ENST00000373344	P46100 [Direct mapping] Transcriptional regulator ATRX A4LAA3 [Target identity:100%; Query identity:100%] ATP-dependent helicase ATRX Show all	Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) Show all	GO:0000166 [nucleotide binding] GO:0000212 [meiotic spindle organization] GO:0000228 [nuclear chromosome] GO:0000779 [condensed chromosome, centromeric region] GO:0000781 [chromosome, telomeric region] GO:0000792 [heterochromatin] GO:0003677 [DNA binding] GO:0003678 [DNA helicase activity] GO:0003682 [chromatin binding] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005721 [pericentric heterochromatin] GO:0006281 [DNA repair] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006334 [nucleosome assembly] GO:0006336 [DNA replication-independent nucleosome assembly] GO:0006338 [chromatin remodeling] GO:0006355 [regulation of transcription, DNA-templated] GO:0006974 [cellular response to DNA damage stimulus] GO:0007283 [spermatogenesis] GO:0010571 [positive regulation of nuclear cell cycle DNA replication] GO:0015616 [DNA translocase activity] GO:0016604 [nuclear body] GO:0016605 [PML body] GO:0016787 [hydrolase activity] GO:0030330 [DNA damage response, signal transduction by p53 class mediator] GO:0030900 [forebrain development] GO:0031297 [replication fork processing] GO:0032206 [positive regulation of telomere maintenance] GO:0032508 [DNA duplex unwinding] GO:0035064 [methylated histone binding] GO:0035128 [post-embryonic forelimb morphogenesis] GO:0035264 [multicellular organism growth] GO:0042393 [histone binding] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046872 [metal ion binding] GO:0060009 [Sertoli cell development] GO:0070087 [chromo shadow domain binding] GO:0070192 [chromosome organization involved in meiotic cell cycle] GO:0070198 [protein localization to chromosome, telomeric region] GO:0072520 [seminiferous tubule development] GO:0072711 [cellular response to hydroxyurea] GO:0099115 [chromosome, subtelomeric region] GO:1900112 [regulation of histone H3-K9 trimethylation] GO:1901581 [negative regulation of telomeric RNA transcription from RNA pol II promoter] GO:1901582 [positive regulation of telomeric RNA transcription from RNA pol II promoter] GO:1904908 [negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric] Show all	2492 aa 282.6 kDa	No	0
ATRX-202 ENSP00000378967 ENST00000395603	P46100 [Direct mapping] Transcriptional regulator ATRX Show all	Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) Show all	GO:0000166 [nucleotide binding] GO:0000781 [chromosome, telomeric region] GO:0000792 [heterochromatin] GO:0003677 [DNA binding] GO:0003678 [DNA helicase activity] GO:0003682 [chromatin binding] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005721 [pericentric heterochromatin] GO:0006281 [DNA repair] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006334 [nucleosome assembly] GO:0006336 [DNA replication-independent nucleosome assembly] GO:0006338 [chromatin remodeling] GO:0006355 [regulation of transcription, DNA-templated] GO:0006974 [cellular response to DNA damage stimulus] GO:0010571 [positive regulation of nuclear cell cycle DNA replication] GO:0015616 [DNA translocase activity] GO:0016604 [nuclear body] GO:0016605 [PML body] GO:0016787 [hydrolase activity] GO:0030330 [DNA damage response, signal transduction by p53 class mediator] GO:0031297 [replication fork processing] GO:0032206 [positive regulation of telomere maintenance] GO:0032508 [DNA duplex unwinding] GO:0035064 [methylated histone binding] GO:0042393 [histone binding] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046872 [metal ion binding] GO:0070087 [chromo shadow domain binding] GO:0070198 [protein localization to chromosome, telomeric region] GO:0072711 [cellular response to hydroxyurea] GO:0099115 [chromosome, subtelomeric region] GO:1900112 [regulation of histone H3-K9 trimethylation] GO:1901581 [negative regulation of telomeric RNA transcription from RNA pol II promoter] GO:1901582 [positive regulation of telomeric RNA transcription from RNA pol II promoter] GO:1904908 [negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric] Show all	2454 aa 278.2 kDa	No	0
ATRX-203 ENSP00000383663 ENST00000400866	H0Y3T0 [Direct mapping] Transcriptional regulator ATRX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] Show all	198 aa 22.9 kDa	No	0
ATRX-207 ENSP00000485408 ENST00000493470	A0A096LP59 [Direct mapping] Transcriptional regulator ATRX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all		293 aa 33.1 kDa	No	0
ATRX-208 ENSP00000485587 ENST00000622960	A0A096LPG6 [Direct mapping] Transcriptional regulator ATRX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all		47 aa 5 kDa	No	0
ATRX-211 ENSP00000485127 ENST00000623321	A0A096LNN3 [Direct mapping] DNA helicase Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003678 [DNA helicase activity] GO:0004386 [helicase activity] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006281 [DNA repair] GO:0006974 [cellular response to DNA damage stimulus] GO:0016604 [nuclear body] GO:0032508 [DNA duplex unwinding] GO:0046872 [metal ion binding] Show all	528 aa 59.4 kDa	No	0
ATRX-213 ENSP00000485253 ENST00000624032	A0A096LNW1 [Direct mapping] DNA helicase Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003678 [DNA helicase activity] GO:0004386 [helicase activity] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006281 [DNA repair] GO:0006974 [cellular response to DNA damage stimulus] GO:0016604 [nuclear body] GO:0032508 [DNA duplex unwinding] GO:0046872 [metal ion binding] Show all	954 aa 107 kDa	No	0
ATRX-214 ENSP00000485103 ENST00000624166	A0A096LNL9 [Direct mapping] DNA helicase Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003678 [DNA helicase activity] GO:0004386 [helicase activity] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006281 [DNA repair] GO:0006974 [cellular response to DNA damage stimulus] GO:0016604 [nuclear body] GO:0032508 [DNA duplex unwinding] GO:0046872 [metal ion binding] Show all	1351 aa 151.7 kDa	No	0
ATRX-216 ENSP00000485100 ENST00000624668	A0A096LNL7 [Direct mapping] Transcriptional regulator ATRX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all		108 aa 12 kDa	No	0
ATRX-218 ENSP00000485099 ENST00000625063	A0A096LNL6 [Direct mapping] DNA helicase Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003678 [DNA helicase activity] GO:0004386 [helicase activity] GO:0005634 [nucleus] GO:0006281 [DNA repair] GO:0006974 [cellular response to DNA damage stimulus] GO:0032508 [DNA duplex unwinding] GO:0046872 [metal ion binding] Show all	198 aa 22.2 kDa	No	0
ATRX-224 ENSP00000502598 ENST00000675732		SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] Show all	858 aa 98.2 kDa	No	0

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