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CHD8
HPA
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                                          • CHD8
                                          BRAIN TISSUES Show tissue menu
                                          AMYGDALA BASAL GANGLIA CEREBELLUM CEREBRAL CORTEX CHOROID PLEXUS HIPPOCAMPAL FORMATION HYPOTHALAMUS
                                          MEDULLA OBLONGATA MIDBRAIN OLFACTORY BULB PONS SPINAL CORD THALAMUS WHITE MATTER
                                          Brain proteome
                                          Brain 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.

                                          Human gene namei

                                          Official gene symbol, which is typically a short form of the gene name, according to HGNC.

                                          CHD8
                                          Mouse gene name Chd8
                                          Human gene
                                          descriptioni

                                          Full gene name according to HGNC.

                                          Chromodomain helicase DNA binding protein 8
                                          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.

                                          Intracellular
                                          Mouse gene ENSMUSG00000053754
                                          Pig gene ENSSSCG00000002127
                                          Antibodies in assayi

                                          The internal antibody ID for the antibody/antibodies available for this specific target, click link for more antibody information.

                                          No antibodies in assay
                                          HUMAN PROTEIN ATLAS INFORMATION
                                          Brain expression
                                          cluster (RNA)i

                                          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.

                                          Non-specific - Transcription (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.

                                          The tissue data for RNA expression obtained through Cap Analysis of Gene Expression (CAGE) generated by the FANTOM project are reported as Scaled Tags Per Million. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.

                                          The CAGE method is described in detail here.

                                          Low tissue specificity
                                          Human brainPig brainMouse brain
                                          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.

                                          Low region specificityLow region specificityLow region specificity
                                          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.

                                          0.070.050.10
                                          Regional distributioni

                                          The regional distribution category is based on mRNA expression detected above cut off or not in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. Brain expression for all species is based on data from HPA. The distribution categories include: detected in all, detected in many, detected in some, detected in single and not detected. The classification rules are the same used for the tissue distribution category.

                                          Detected in allDetected in allDetected in all
                                          BRAIN RNA EXPRESSIONi

                                          The data is based on "bulk" RNAseq of micro-punched brain areas and brain nuclei. The size of the punches was adjusted to the size of the brain region to obtain detailed protein expression information on distinct cell populations. Multiple samples were collected from the same donors allowing a mild normalization and correction for individual variation. Data is expressed as normalized tags per million (nTPM). Protein expression data is organized on the 13 main brain structures representing the maximum value found in any of the brain areas that make up that structure. A detailed overview of the expression in any of the brain areas is summarized in bar plots for each brain structure.

                                          HUMAN
                                          Cerebral cortexHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainCerebellumPonsMedulla oblongataSpinal cordWhite matterChoroid plexusCorpus callosum
                                          Expression
                                          Detection
                                          All organs
                                          HPA Human brain dataseti

                                          Normalized RNA expression levels (nTPM) shown for the 13 brain regions. Color coding is based on brain region and the bar shows the highest expression among the subregions included. To access sample data, click on region name or bar.

                                          Read more about normalized expression levels here.

                                          Cerebral cortexHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainCerebellumPonsMedulla oblongataSpinal cordWhite matterChoroid plexus01020304050nTPM

                                          CTX
                                          HPF
                                          AMY
                                          BG
                                          TH
                                          HY
                                          MB
                                          CB
                                          P
                                          M
                                          SC
                                          WM
                                          CP
                                          Cerebral cortex
                                          CingulateClaustrumFrontalInsularOccipitalPaleocortexParietalRetrosplenialTemporalAnterior cingulate cortex, supragenual-dorsalAnterior cingulate cortex, supragenual-ventralMiddle cingulate cortexPosterior cingulate cortexPosterior cingulate cortex, dorsalPosterior cingulate cortex, ventralClaustrumFrontal eye fieldFrontal operculumParacentral lobule, anteriorPrecentral gyrusPrecentral gyrus, dorsalPrecentral gyrus, middlePrecentral gyrus, ventralPremotor cortex, dorsalPremotor cortex, ventralSupplementary motor cortexOrbitofrontal gyrus, anteriorInferior frontal gyrus, opercularAnterior insular cortex, dorsalAnterior insular cortex, ventralPosterior insular cortexArea parastriata, inferiorArea parastriata, parietalArea parastriata, superiorArea parastriata, temporalArea striataLingual gyrusOccipital cortexParieto-occipital transitional areaTemporo-occipital transitional zoneOlfactory areaOlfactory tuberclePiriform cortexAngular gyrusInferior parietal lobuleIntraparietal deep sulcusParacentral lobule, posteriorParietal operculumParieto-insular cortexPostcentral gyrusPostcentral gyrus, dorsalPostcentral gyrus, middlePostcentral gyrus, ventralPrecuneusSubcentral gyrus, S2Superior parietal lobuleSupramarginal gyrusRetrosplenial cortexFusiform gyrusInferior temporal gyrusMiddle temporal gyrusSuperior temporal gyrusTemporal poleTemporo-insular cortex, parainsular gyrusTransversal temporal gyrus, anteriorTransversal temporal gyrus, posterior01020304050nTPM
                                          Additional Prefrontal Cortex dataset
                                          Anterior cingulate gyrus, pregenual-dorsalAnterior cingulate gyrus, pregenual-ventralAnterior cingulate gyrus, subgenualInferior frontal gyrus, triangularInferior frontal gyrus, orbitalOrbitofrontal gyrus, lateralOrbitofrontal gyrus, posteriorVentrolateral prefrontal cortexVentromedial prefrontal cortexDorsolateral prefrontal cortexDorsomedial prefrontal cortexFrontomarginal cortexFrontopolar cortexOrbitofrontal gyrus, medialGyrus rectusSubcallosal gyrusSuperior frontal gyrus0246810nTPM
                                          Hippocampal formation
                                          HippocampusEntorhinal gyrusParahippocampal cortexPerirhinal gyrusDentate gyrusHippocampus, CA1Hippocampus, CA2Hippocampus, CA3Subiculum05101520253035nTPM
                                          Amygdala
                                          AmygdalaBasal amygdalaCentral amygdalaCorticomedial amygdalaLateral amygdala05101520253035nTPM
                                          Basal ganglia
                                          Basal forebrainGlobus pallidusStriatumNucleus basalis of MeynertNucleus of the diagonal bandSeptal nucleiStria terminalis, bed nucleusGlobus pallidus, externusGlobus pallidus, internusCaudate nucleusNucleus accumbensPutamen05101520253035nTPM
                                          Thalamus
                                          DorsalEpithalamusVentralAnterior thalamic nucleus, ventralCentromedial thalamic nucleusLateral geniculate bodyLateral thalamic nucleiMedial dorsal thalamic nucleusMedial geniculate bodyNucleus reuniensNucleus rhomboideusPosterior thalamic nucleusPulvinarVentral posterolateral thalamic nucleusVentral posteromedial thalamic nucleusHabenulaSubthalamic nucleusVentral thalamic nucleiZona incerta05101520253035nTPM
                                          Hypothalamus
                                          Mammillary bodySupraopticTuberalMammillary bodyLateral hypothalamic areaParaventricular nucleusPreoptic areaSupraoptic nucleusArcuate nucleusDorsomedial nucleusVentromedial nucleus05101520253035nTPM
                                          Midbrain
                                          TectumTegmentumInferior colliculusPretectal areaSuperior colliculusCuneiform nucleusDorsal raphe nucleusMedian raphe nucleusPeriaquaductal grey, anteriorPeriaquaductal grey, dorsalPeriaquaductal grey, lateralRed nucleusSubstantia nigraVentral tegmental area05101520253035nTPM
                                          Cerebellum
                                          Cerebellar nucleiCerebellar cortexFlocculonodular lobeVermis01020304050nTPM
                                          Pons
                                          Dorsal tegmental nucleusDorsolateral tegmental areaLocus coeruleusSubcoeruleus areaLateral vestibular nucleusLateral parabrachial nucleusMedial parabrachial nucleusReticulotegmental nucleusMotor trigeminal nucleusSpinal trigeminal nucleus, oralKolliker-Fuse nucleusReticular pontine nucleus, oralReticular pontine nucleus, caudalPontine raphe nucleusPontine nucleiNucleus raphe magnusPedunculopontine tegmental nucleusNuclei of the trapezoid bodyLateral lemniscal nucleiSuperior oliveVentrolateral tegmental area, A5 NE cell groupDorsal cochlear nucleusAnterior cochlear nucleus, ventralPosteroventral cochlear nucleusPrincipal sensory trigeminal nucleusParamedian reticular nucleusMotor facial nucleusVentral periolivary nucleiMedial periolivary nuclei05101520253035nTPM
                                          Medulla oblongata
                                          Parvicellular reticular nuclei, medullaryParvicellular reticular nucleiInferior oliveMedial olivary nucleusMedial vestibular nucleusSpinal vestibular nucleusSuperior vestibular nucleusNucleus cuneatusArea postremaVentrolateral medulla, A1-C1 cell groupsSpinal trigeminal nucleus, interpolarSpinal trigeminal nucleus, caudalPeritrigeminal nucleusLateral medullary reticular nucleusDorsal medullary reticular nucleusVentral medullary reticular nucleusGigantocellular reticular nuclei, medullaryGigantocellular reticular nuclei, parsNucleus raphe pallidusNucleus tractus solitariiNucleus ambiguusPrepositus hypoglossal nucleusMotor hypoglossal nucleusDorsal motor vagal complexNucleus raphe obscurusNucleus gracilis05101520253035nTPM
                                          Spinal cord
                                          Cervical spinal cord, central grayCervical spinal cord, dorsal hornCervical spinal cord, ventral horn05101520253035nTPM
                                          White matter
                                          CerebellarCorticalSpinal cordCerebellar white matterAngular gyrus (white matter)Area striata (white matter)Corpus callosum, genu (white matter)Corpus callosum, splenium (white matter)Occipital cortex (white matter)Parahippocampal cortex (white matter)Parieto-temporal junction (white matter)Somatosensory cortex, postcentral gyrus, ventral (white matter)Somatomor cortex, precentral gyrus (white matter)Temporal white matterAnterior funiculus (white matter)Dorsal funiculus (white matter)Lateral funiculus (white matter)05101520253035nTPM
                                          Choroid plexus
                                          Choroid plexus05101520253035nTPM
                                          STEREO-SEQi

                                          The left image is based on imputation of transcript location based on single cell co-expression. Only locations that are supported by neighboring transcripts are shown. All pixels are allocated to a cell-type mask indicated by color. It should be noted that these are predictions on transcript location and not real detection of transcripts.

                                          The bar plot on the right reveals the counts per million of that transcript in each cell-type mask. This is calculated by counting all transcripts for all cell-type masks and for unassigned spots (noise). For each protein coding transcript the unassigned counts are subtracted from the counts in each cell-type. The noise corrected counts are used to calculate counts per million that is plotted as Enrichment change. Note that this is based on real measurements of counts.

                                          For more information on how this data is generated visit the spatial transcriptomics knowledge summary page.

                                          HPA HUMAN BRAIN
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                                          Purkinje cells - plPurkinje cells - mlPurkinje cells - glPurkinje cells - WMastrocytes - plastrocytes - mlastrocytes - glastrocytes - WMoligodendrocytes - ploligodendrocytes - mloligodendrocytes - gloligodendrocytes - WMmicroglia - plmicroglia - mlmicroglia - glmicroglia - WMneurons - plneurons - mlneurons - glneurons - WMvasculature - plvasculature - mlvasculature - glvasculature - WM02004006008001,000Enrichment changeStereo-seq HPA cerebellum
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                                          Purkinje cells - plPurkinje cells - mlPurkinje cells - glPurkinje cells - WMastrocytes - plastrocytes - mlastrocytes - glastrocytes - WMoligodendrocytes - ploligodendrocytes - mloligodendrocytes - gloligodendrocytes - WMmicroglia - plmicroglia - mlmicroglia - glmicroglia - WMneurons - plneurons - mlneurons - glneurons - WMvasculature - plvasculature - mlvasculature - glvasculature - WM0100200300400500600700Enrichment changeStereo-seq HPA cerebellum
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                                          Purkinje cells - plPurkinje cells - mlPurkinje cells - glPurkinje cells - WMastrocytes - plastrocytes - mlastrocytes - glastrocytes - WMoligodendrocytes - ploligodendrocytes - mloligodendrocytes - gloligodendrocytes - WMmicroglia - plmicroglia - mlmicroglia - glmicroglia - WMneurons - plneurons - mlneurons - glneurons - WMvasculature - plvasculature - mlvasculature - glvasculature - WM02004006008001,0001,2001,400Enrichment changeStereo-seq HPA cerebellum
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                                          astrocytes - Layer1astrocytes - Layer2-3astrocytes - Layer4astrocytes - Layer5astrocytes - Layer6astrocytes - WMoligodendrocytes - Layer1oligodendrocytes - Layer2-3oligodendrocytes - Layer4oligodendrocytes - Layer5oligodendrocytes - Layer6oligodendrocytes - WMmicroglia - Layer1microglia - Layer2-3microglia - Layer4microglia - Layer5microglia - Layer6microglia - WMneurons - Layer1neurons - Layer2-3neurons - Layer4neurons - Layer5neurons - Layer6neurons - WMvasculature - Layer1vasculature - Layer2-3vasculature - Layer4vasculature - Layer5vasculature - Layer6vasculature - WM02004006008001,0001,200Enrichment changeStereo-seq HPA cerebral cortex
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                                          astrocytes - Layer1astrocytes - Layer2-3astrocytes - Layer4astrocytes - Layer5astrocytes - Layer6astrocytes - WMoligodendrocytes - Layer1oligodendrocytes - Layer2-3oligodendrocytes - Layer4oligodendrocytes - Layer5oligodendrocytes - Layer6oligodendrocytes - WMmicroglia - Layer1microglia - Layer2-3microglia - Layer4microglia - Layer5microglia - Layer6microglia - WMneurons - Layer1neurons - Layer2-3neurons - Layer4neurons - Layer5neurons - Layer6neurons - WMvasculature - Layer1vasculature - Layer2-3vasculature - Layer4vasculature - Layer5vasculature - Layer6vasculature - WM0100200300400500Enrichment changeStereo-seq HPA cerebral cortex
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                                          astrocytes - Layer1-2astrocytes - Layer2-3astrocytes - Layer4astrocytes - Layer5astrocytes - Layer6astrocytes - WMoligodendrocytes - Layer1-2oligodendrocytes - Layer2-3oligodendrocytes - Layer4oligodendrocytes - Layer5oligodendrocytes - Layer6oligodendrocytes - WMmicroglia - Layer1-2microglia - Layer2-3microglia - Layer4microglia - Layer5microglia - Layer6microglia - WMneurons - Layer1-2neurons - Layer2-3neurons - Layer4neurons - Layer5neurons - Layer6neurons - WMvasculature - Layer1-2vasculature - Layer2-3vasculature - Layer4vasculature - Layer5vasculature - Layer6vasculature - WM0100200300400500600Enrichment changeStereo-seq HPA cerebral cortex
                                          COMPARISON BRAIN RNA EXPRESSIONi

                                          This is data based on "bulk" RNAseq (GTEx) and Cap Analysis of gene expression. Protein expression is is expressed as normalized tags per million (nTPM).

                                          GTEX AND FANTOM HUMAN BRAIN
                                          GTEx Human brain RNA-Seq dataseti


                                          GTEx dataset
                                          RNA-seq tissue data generated by the Genotype-Tissue Expression (GTEx) project is reported as mean nTPM, corresponding to mean values of the different individual samples for respective subregion. Highest expression among the subregions represents the brain region. To access sample data, click on region name or bar.

                                          The GTEx RNA-seq assay is described in detail here.

                                          Cerebral cortexHippocampal formationAmygdalaBasal gangliaHypothalamusMidbrainCerebellumSpinal cord0510152025nTPM
                                          FANTOM5 Human brain CAGE dataseti


                                          FANTOM5 dataset
                                          Tissue data for RNA expression obtained through Cap Analysis of Gene Expression (CAGE) generated by the FANTOM5 project are reported as Scaled Tags Per Million. To access sample data, click on region name or bar.

                                          The CAGE method is described in detail here.

                                          Cerebral cortexOlfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusMidbrainCerebellumPonsMedulla oblongataSpinal cordWhite matter0102030405060Scaled Tags Per Million
                                          PIG
                                          Cerebral cortexOlfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainCerebellumPonsMedulla oblongataSpinal cordWhite matter
                                          HPA Pig brain RNA-Seq dataseti


                                          HPA Pig dataset
                                          HPA RNA-seq tissue data is reported as mean nTPM (normalized expression) for each of the brain regions analyzed in pig. The detailed pages (reached when clicking a bar or regional name) show nTPM values at the individual sample level.
                                          To access sample data, click on region name or bar.

                                          The HPA RNA-seq assay is described in detail here.

                                          The pig brain transcriptomics project is a collaborative project between human protein atlas and the Lars Bolund institute of regenerative Medicine (Dr. Yonglun Luo), BGI-Qingdao, China.

                                          Cerebral cortexOlfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainCerebellumPonsMedulla oblongataSpinal cordWhite matter05101520253035nTPM
                                          MOUSE
                                          Cerebral cortexOlfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainPons and medullaCerebellumWhite matter
                                          HPA Mouse brain RNA-Seq dataseti


                                          HPA Mouse dataset
                                          HPA RNA-seq tissue data is reported as mean nTPM (normalized expression) for each of the brain regions analyzed in mouse. The detailed pages (reached when clicking a bar or regional name) show nTPM values at the individual sample level.
                                          To access sample data, click on region name or bar.

                                          The HPA RNA-seq assay is described in detail here.

                                          Cerebral cortexOlfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainPons and medullaCerebellumWhite matter010203040nTPM

                                          Allen Mouse brain ISH dataseti

                                          The Allen Mouse Brain ISH
                                          The expression values based on in situ hybridization (ISH) available through the ABA API (© 2004 Allen Institute for Brain Science, Allen Mouse Brain Atlas) is imported and show regional expression grouped in the same manner as the other datasets.
                                          To access sample data and links to the ABA, click on region name or bar.

                                          Read more
                                          Olfactory bulbHippocampal formationAmygdalaBasal gangliaThalamusHypothalamusMidbrainCerebellumPonsMedulla oblongata0246810Expression energy

                                          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.

                                          CHD8 is part of cluster 16 Non-specific - Transcription 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
                                          188 genes in cluster
                                          Go to interactive expression cluster page
                                          15 nearest neighbours based on brain 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.

                                          DCP1A Decapping mRNA 1A 0.8368 16
                                          MYEF2 Myelin expression factor 2 0.8140 16
                                          VAX2 Ventral anterior homeobox 2 0.8105 35
                                          CHAMP1 Chromosome alignment maintaining phosphoprotein 1 0.8088 16
                                          EIF4ENIF1 Eukaryotic translation initiation factor 4E nuclear import factor 1 0.8070 16
                                          CREBBP CREB binding protein 0.8070 15
                                          LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component 0.8053 16
                                          ZNF131 Zinc finger protein 131 0.8018 16
                                          RBM10 RNA binding motif protein 10 0.7947 15
                                          CNOT4 CCR4-NOT transcription complex subunit 4 0.7947 16
                                          CNOT7 CCR4-NOT transcription complex subunit 7 0.7930 31
                                          ZNF175 Zinc finger protein 175 0.7912 38
                                          FAM104A Family with sequence similarity 104 member A 0.7877 15
                                          MTERF2 Mitochondrial transcription termination factor 2 0.7842 16
                                          BCL9L BCL9 like 0.7842 15

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