TF information

TF name: PAX6
TF family: PAX
Ensembl gene ID: ENSG00000007372
Ensembl protein ID: ENSP00000492316, ENSP00000491862, ENSP00000492808, ENSP00000492024, ENSP00000490971, ENSP00000492129, ENSP00000491295, ENSP00000491517, ENSP00000492205, ENSP00000492658, ENSP00000368406, ENSP00000492397, ENSP00000492166, ENSP00000388132, ENSP00000368410, ENSP00000491872
Entrez gene ID: 5080
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of PAX6 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_413TissueBrainGBM_24930.45604395604396

PAX6 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name

PAX6 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with PAX6
Download

Mutation of PAX6
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of PAX6

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr113181633331816333CAexonicPAX6nonsynonymous OV|1|469|0.00213
-chr113182324831823248CAexonicPAX6nonsynonymous LUAD|1|543|0.00184
-chr113182426531824265GAexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113182312431823124GAexonicPAX6synonymous PAAD|1|185|0.00541
-chr113181240931812409CAsplicingPAX6splicing UCEC|1|248|0.00403
rs1800427chr113182234231822342GAexonicPAX6synonymous ESCA|1|185|0.00541
rs746448834chr113182315231823152CAexonicPAX6nonsynonymous LUAD|2|543|0.00368
-chr113182310931823109GAexonicPAX6synonymous COADREAD|1|489|0.00204,READ|1|122|0.00820,STAD|1|395|0.00253,STES|1|395|0.00253
-chr113182237131822371CTexonicPAX6nonsynonymous UCEC|1|248|0.00403
-chr113181565131815651TCexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113181522831815228GTexonicPAX6stopgain LUAD|1|543|0.00184
-chr113182704831827048GTintronicPAX6unknown ESCA|1|185|0.00541
-chr113182314531823145CAexonicPAX6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181620131816201TCexonicPAX6nonsynonymous UCEC|1|248|0.00403
-chr113182427131824271TAexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181240931812409CTsplicingPAX6splicing STAD|1|395|0.00253,STES|1|395|0.00253
rs200959420chr113181234631812346AGexonicPAX6synonymous SKCM|1|368|0.00272
-chr113181234031812340CAexonicPAX6synonymous LUAD|1|543|0.00184
-chr113182233031822330AGexonicPAX6synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181505131815051TGexonicPAX6nonsynonymous LUAD|1|543|0.00184
rs755528147chr113181502931815029GAexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181506631815066TCexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113182235831822358TCexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181152031811520CAexonicPAX6stopgain BLCA|1|396|0.00253
-chr113181619131816191CAexonicPAX6nonsynonymous LUAD|1|543|0.00184
-chr113181227131812271GTexonicPAX6synonymous LUSC|1|178|0.00562
-chr113181520831815208GAexonicPAX6nonsynonymous LUAD|1|543|0.00184
-chr113181529431815294CTexonicPAX6synonymous PRAD|1|499|0.00200
-chr113182433731824337CAexonicPAX6nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr113182226831822268CAexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181503031815030GAexonicPAX6nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
rs369447790chr113181235231812352CTexonicPAX6synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,UCEC|1|248|0.00403
-chr113181152131811521AGexonicPAX6synonymous LUAD|1|543|0.00184
-chr113182432931824329GAexonicPAX6nonsynonymous ESCA|1|185|0.00541
-chr113181510331815103TAsplicingPAX6splicing LUAD|1|543|0.00184
-chr113182324031823240GAexonicPAX6nonsynonymous SARC|1|247|0.00405
-chr113181231731812317G-exonicPAX6frameshift BRCA|1|982|0.00102,COAD|4|367|0.01090,COADREAD|4|489|0.00818,PAAD|1|185|0.00541,STAD|11|395|0.02785,STES|11|395|0.02785
-chr113182224431822244GAexonicPAX6nonsynonymous LUSC|1|178|0.00562
-chr113182429831824298AGexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181506931815069GAexonicPAX6stopgain ESCA|1|185|0.00541,PRAD|1|499|0.00200
-chr113181630531816305CTexonicPAX6synonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr113182322231823222CTexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181529231815292CAexonicPAX6nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr113181630931816309CTexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113182344631823446TAexonicPAX6synonymous BLCA|2|396|0.00505
-chr113181503831815038CTexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181565331815653CAexonicPAX6nonsynonymous BRCA|1|982|0.00102
-chr113181534131815341AGexonicPAX6nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr113182232431822324TCexonicPAX6synonymous UCEC|1|248|0.00403
-chr113182328531823286AA-exonicPAX6frameshift BRCA|1|982|0.00102
rs121907928chr113182310931823109GTexonicPAX6nonsynonymous HNSC|1|512|0.00195
-chr113181500331815003TCexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113182321631823216CAexonicPAX6nonsynonymous HNSC|2|512|0.00391
rs776244636chr113181156331811563GTexonicPAX6synonymous LUAD|1|543|0.00184
-chr113181560431815604T-exonicPAX6frameshift LUAD|1|543|0.00184
-chr113182228631822286CTexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113183256431832564CAsplicingPAX6splicing UCEC|1|248|0.00403
rs367589686chr113181628131816281GAexonicPAX6synonymous BRCA|1|982|0.00102,HNSC|1|512|0.00195
-chr113182324131823241TCexonicPAX6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113182327231823272GTexonicPAX6nonsynonymous UCEC|1|248|0.00403
-chr113181632231816322GTexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113181627431816274CAexonicPAX6nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr113181521531815215GAexonicPAX6stopgain STAD|2|395|0.00506,STES|2|395|0.00506
rs766564648chr113181618531816185CTexonicPAX6synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181528831815288TCexonicPAX6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181630731816307CGexonicPAX6nonsynonymous CESC|1|194|0.00515,STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181239431812394GCexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113182228431822284GCexonicPAX6nonsynonymous HNSC|1|512|0.00195
-chr113181232231812322GTexonicPAX6synonymous LUAD|1|543|0.00184
rs758400541chr113182230231822302CTexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113182325031823250AGexonicPAX6synonymous UCEC|1|248|0.00403
-chr113181564931815649GTexonicPAX6synonymous LUSC|1|178|0.00562
rs777250095chr113182234131822341CTexonicPAX6nonsynonymous LUAD|1|543|0.00184,UCEC|1|248|0.00403
rs756801119chr113181231631812316-GexonicPAX6frameshift BRCA|1|982|0.00102,COAD|3|367|0.00817,COADREAD|3|489|0.00613,KIPAN|8|799|0.01001,KIRC|8|451|0.01774,LUAD|5|543|0.00921,STAD|2|395|0.00506,STES|2|395|0.00506
-chr113181559431815594CTexonicPAX6nonsynonymous SKCM|1|368|0.00272
rs759557055chr113182325231823252CTexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113181228131812281CTexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113182426331824263GAexonicPAX6stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113182238831822388CAexonicPAX6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr113182434031824340CAexonicPAX6nonsynonymous LUAD|1|543|0.00184
-chr113181627731816277CTexonicPAX6nonsynonymous UCEC|1|248|0.00403
-chr113181566331815663CAsplicingPAX6splicing UCEC|1|248|0.00403
-chr113181237231812372TAexonicPAX6nonsynonymous LUAD|1|543|0.00184
rs747357950chr113182318531823185CTexonicPAX6nonsynonymous UCEC|1|248|0.00403
-chr113182233531822335AGexonicPAX6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr113181509531815095GAexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113181558631815586TCexonicPAX6synonymous OV|1|469|0.00213
-chr113181630831816308TCexonicPAX6synonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189,TGCT|1|155|0.00645
-chr113182425831824258ATexonicPAX6synonymous BLCA|1|396|0.00253
-chr113181510331815103TCsplicingPAX6splicing UCEC|1|248|0.00403
-chr113181501331815013GAexonicPAX6synonymous LUAD|1|543|0.00184
-chr113182235931822359GCexonicPAX6nonsynonymous OV|1|469|0.00213
-chr113182236531822365CTexonicPAX6nonsynonymous UCEC|1|248|0.00403
rs748252607chr113182319831823198AGexonicPAX6nonsynonymous CHOL|1|35|0.02857
-chr113182316531823165CTexonicPAX6nonsynonymous SKCM|1|368|0.00272
-chr113182344331823443TCexonicPAX6synonymous LUAD|1|543|0.00184

Disease information of PAX6
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
PAX6 Alloxan Diabetes C18;C19 Experimental Model of Disease CTD_human
PAX6 Aniridia C11;C16 Congenital Abnormality CTD_human;ORPHANET;UNIPROT
PAX6 Ataxias, Hereditary C10;C16 Disease or Syndrome GENOMICS_ENGLAND
PAX6 Autistic Disorder F03 Mental or Behavioral Dysfunction CTD_human
PAX6 Congenital ocular coloboma (disorder) C11;C16 Congenital Abnormality GENOMICS_ENGLAND;UNIPROT
PAX6 Diabetes Mellitus, Experimental C18;C19 Experimental Model of Disease CTD_human
PAX6 Diabetes Mellitus, Non-Insulin-Dependent C18;C19 Disease or Syndrome CTD_human
PAX6 Profound Mental Retardation C10;C23;F01;F03 Mental or Behavioral Dysfunction CTD_human
PAX6 Malignant neoplasm of stomach C04;C06 Neoplastic Process CTD_human
PAX6 melanoma C04 Neoplastic Process CTD_human
PAX6 Mental Retardation, Psychosocial C10;C23;F01;F03 Mental or Behavioral Dysfunction CTD_human
PAX6 Neoplasm Invasiveness C04;C23 Pathologic Function CTD_human
PAX6 Disorder of the optic nerve C10;C11 Disease or Syndrome CTD_human
PAX6 Prostatic Neoplasms C04;C12 Neoplastic Process CTD_human
PAX6 Schizophrenia F03 Mental or Behavioral Dysfunction PSYGENET
PAX6 Disorders of Sex Development C12;C13;C16;C19 Congenital Abnormality GENOMICS_ENGLAND
PAX6 Stomach Neoplasms C04;C06 Neoplastic Process CTD_human
PAX6 Streptozotocin Diabetes C18;C19 Experimental Model of Disease CTD_human
PAX6 Tooth Abnormalities C07;C16 Anatomical Abnormality CTD_human
PAX6 Cataract C11 Acquired Abnormality GENOMICS_ENGLAND
PAX6 Foster-Kennedy Syndrome C10;C11 Disease or Syndrome CTD_human
PAX6 Coloboma of optic disc C11;C16 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
PAX6 WAGR Syndrome C04;C10;C11;C12;C13;C16;C19 Disease or Syndrome CTD_human;ORPHANET
PAX6 Cranioschisis C10;C16 Congenital Abnormality CTD_human
PAX6 Congenital coloboma of iris Congenital Abnormality ORPHANET
PAX6 Hypoplasia of the optic nerve Disease or Syndrome ORPHANET
PAX6 Coloboma of lens Congenital Abnormality ORPHANET
PAX6 Irido-corneo-trabecular dysgenesis (disorder) C11;C16 Congenital Abnormality CTD_human;ORPHANET
PAX6 Malignant neoplasm of prostate C04;C12 Neoplastic Process CTD_human
PAX6 Craniofacial Abnormalities C05;C16 Congenital Abnormality CTD_human
PAX6 Gillespie syndrome C10;C11;C16;C23;F01;F03 Disease or Syndrome CTD_human;ORPHANET
PAX6 Congenital neurologic anomalies C10;C16 Congenital Abnormality CTD_human
PAX6 Coloboma of eyelid Disease or Syndrome ORPHANET
PAX6 Odontome C07;C16 Congenital Abnormality CTD_human
PAX6 Morning glory syndrome Disease or Syndrome ORPHANET
PAX6 Optic Disk Disorders C10;C11 Disease or Syndrome CTD_human
PAX6 Mental deficiency C10;C23;F01;F03 Mental or Behavioral Dysfunction CTD_human
PAX6 Hereditary Diffuse Gastric Cancer C04;C06 Neoplastic Process CTD_human
PAX6 Optic Nerve Hypoplasia, Bilateral C10;C11 Disease or Syndrome CTD_human;UNIPROT
PAX6 Optic Nerve Aplasia, Bilateral C10;C11 Disease or Syndrome UNIPROT
PAX6 Keratitis, hereditary C11 Disease or Syndrome CTD_human;ORPHANET
PAX6 Hereditary macular coloboma C11;C16 Congenital Abnormality ORPHANET
PAX6 Abnormality of the cornea Finding GENOMICS_ENGLAND
PAX6 O'Donnell Pappas syndrome C10;C11;C16 Disease or Syndrome CTD_human;ORPHANET
PAX6 Deletion 11p13 C23 Disease or Syndrome ORPHANET
PAX6 Morning glory anomaly Disease or Syndrome UNIPROT
PAX6 Intellectual Disability C10;C23;F01;F03 Mental or Behavioral Dysfunction CTD_human;GENOMICS_ENGLAND
PAX6 Axenfeld-Rieger Syndrome, Type 1 C11;C16 Disease or Syndrome CTD_human
PAX6 CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY Congenital Abnormality UNIPROT
PAX6 FOVEAL HYPOPLASIA 1 Disease or Syndrome UNIPROT
PAX6 ANTERIOR SEGMENT DYSGENESIS 5 Disease or Syndrome UNIPROT

Pathway associated with PAX6
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0001834 Regulation of gene expression in beta cells reactome 17 54
pathway0002181 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) reactome 20 41
pathway0002182 Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) reactome 13 22
pathway0002631 Maturity onset diabetes of the young kegg 25 76
pathway0002841 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56 137

Go term information of PAX6
GO_term_name GO_term_type TF_name
GO_SPINAL_CORD_DEVELOPMENT BP PAX6
GO_ESTABLISHMENT_OF_SPINDLE_ORIENTATION BP PAX6
GO_AXIS_SPECIFICATION BP PAX6
GO_EPITHELIAL_CELL_DEVELOPMENT BP PAX6
GO_SALIVARY_GLAND_DEVELOPMENT BP PAX6
GO_SPINDLE_LOCALIZATION BP PAX6
GO_PITUITARY_GLAND_DEVELOPMENT BP PAX6
GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_ORIENTATION BP PAX6
GO_VENTRAL_SPINAL_CORD_INTERNEURON_SPECIFICATION BP PAX6
GO_POSITIVE_REGULATION_OF_NEUROBLAST_PROLIFERATION BP PAX6
GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD BP PAX6
GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION BP PAX6
GO_FOREBRAIN_REGIONALIZATION BP PAX6
GO_FOREBRAIN_GENERATION_OF_NEURONS BP PAX6
GO_MICROTUBULE_CYTOSKELETON_ORGANIZATION BP PAX6
GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION BP PAX6
GO_GLANDULAR_EPITHELIAL_CELL_DEVELOPMENT BP PAX6
GO_EPIDERMAL_CELL_DIFFERENTIATION BP PAX6
GO_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION BP PAX6
GO_SPINAL_CORD_MOTOR_NEURON_CELL_FATE_SPECIFICATION BP PAX6
GO_EMBRYONIC_CAMERA_TYPE_EYE_MORPHOGENESIS BP PAX6
GO_ROSTROCAUDAL_NEURAL_TUBE_PATTERNING BP PAX6
GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION BP PAX6
GO_ENDOCRINE_PANCREAS_DEVELOPMENT BP PAX6
GO_NEURON_FATE_SPECIFICATION BP PAX6
GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION BP PAX6
GO_EXOCRINE_SYSTEM_DEVELOPMENT BP PAX6
GO_PHOTORECEPTOR_CELL_DEVELOPMENT BP PAX6
GO_SPINAL_CORD_PATTERNING BP PAX6
GO_ASTROCYTE_DIFFERENTIATION BP PAX6
GO_REGULATION_OF_NEUROBLAST_PROLIFERATION BP PAX6
GO_VENTRAL_SPINAL_CORD_INTERNEURON_DIFFERENTIATION BP PAX6
GO_CELL_MORPHOGENESIS_INVOLVED_IN_DIFFERENTIATION BP PAX6
GO_EMBRYONIC_MORPHOGENESIS BP PAX6
GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DEVELOPMENT BP PAX6
GO_ENTEROENDOCRINE_CELL_DIFFERENTIATION BP PAX6
GO_CELL_FATE_DETERMINATION BP PAX6
GO_PHOTORECEPTOR_CELL_DIFFERENTIATION BP PAX6
GO_DIENCEPHALON_DEVELOPMENT BP PAX6
GO_REGULATION_OF_STEM_CELL_PROLIFERATION BP PAX6
GO_GLIAL_CELL_FATE_COMMITMENT BP PAX6
GO_REGULATION_OF_DEVELOPMENT_HETEROCHRONIC BP PAX6
GO_EMBRYONIC_EYE_MORPHOGENESIS BP PAX6
GO_ENDOCRINE_SYSTEM_DEVELOPMENT BP PAX6
GO_NEGATIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION BP PAX6
GO_TELENCEPHALON_REGIONALIZATION BP PAX6
GO_DORSAL_VENTRAL_AXIS_SPECIFICATION BP PAX6
GO_FOREBRAIN_NEURON_FATE_COMMITMENT BP PAX6
GO_REGULATION_OF_TRANSCRIPTION_INVOLVED_IN_CELL_FATE_COMMITMENT BP PAX6
GO_EYE_PHOTORECEPTOR_CELL_DEVELOPMENT BP PAX6
GO_OLIGODENDROCYTE_DIFFERENTIATION BP PAX6
GO_ESTABLISHMENT_OF_MITOTIC_SPINDLE_LOCALIZATION BP PAX6
GO_POSITIVE_REGULATION_OF_STEM_CELL_PROLIFERATION BP PAX6
GO_SKIN_DEVELOPMENT BP PAX6
GO_ORGANELLE_LOCALIZATION BP PAX6
GO_CAMERA_TYPE_EYE_MORPHOGENESIS BP PAX6
GO_CIRCULATORY_SYSTEM_DEVELOPMENT BP PAX6
GO_EMBRYONIC_CAMERA_TYPE_EYE_DEVELOPMENT BP PAX6
GO_NEURAL_TUBE_PATTERNING BP PAX6
GO_SIGNAL_TRANSDUCTION_INVOLVED_IN_REGULATION_OF_GENE_EXPRESSION BP PAX6
GO_GLANDULAR_EPITHELIAL_CELL_DIFFERENTIATION BP PAX6
GO_EYE_MORPHOGENESIS BP PAX6
GO_R_SMAD_BINDING MF PAX6
GO_CO_SMAD_BINDING MF PAX6
GO_HMG_BOX_DOMAIN_BINDING MF PAX6
GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING MF PAX6
GO_HISTONE_ACETYLTRANSFERASE_BINDING MF PAX6

Survival analysis of PAX6



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of PAX6