AutismKB 2.0

Annotation Detail for SOX10


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Basic Information Top
Gene Symbol:SOX10 ( DOM,MGC15649,PCWH,WS2E,WS4,WS4C )
Gene Full Name: SRY (sex determining region Y)-box 10
Band: 22q13.1
Quick LinksEntrez ID:6663; OMIM: 602229; Uniprot ID:SOX10_HUMAN; ENSEMBL ID: ENSG00000100146; HGNC ID: 11190
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1770Melanoma
1860Brain tumor
2069Schizophrenia
Desease Name
PSYCH
schizophrenia
Myelin deficiencies
No data
Desease Name
PCWH syndrome
Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E, with or without neurologic involvement
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D043582 5-alpha-Dihydroprogesterone 5-alpha-Dihydroprogesterone results in increased expression of SOX10 mRNAincreases expression 17478888
D043582 5-alpha-Dihydroprogesterone 5-alpha-Dihydroprogesterone results in increased expression of SOX10 proteinincreases expression 17478888
D001205 Ascorbic Acid Ascorbic Acid results in increased expression of SOX10 mRNAincreases expression 15305145
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of SOX10 mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of SOX10 mRNAaffects cotreatment|decreases expression 20360939
D005047 Etoposide SOX10 protein affects the susceptibility to Etoposideaffects response to substance 16217747
D011374 Progesterone Progesterone results in increased expression of SOX10 mRNAincreases expression 17478888
D011374 Progesterone Progesterone results in increased expression of SOX10 proteinincreases expression 17478888
C406527 R 115866 R 115866 results in decreased expression of SOX10 proteindecreases expression 17047027
D014212 Tretinoin [Tretinoin co-treated with EGF protein co-treated with NOG protein] results in increased expression of SOX10 mRNAaffects cotreatment|increases expression 17196394
D014212 Tretinoin Tretinoin results in increased expression of SOX10 mRNAincreases expression 17038669
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma Diethylnitrosamine 2.986695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.2417162532 16434500 18056438 17620307 19052882 19061943
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.8516197459 16206674
MESH:D019046 Bone Marrow Neoplasms Etoposide 5.5414601052
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.7117868700
MESH:D001930 Brain Injuries Progesterone 4.5615665606 15845082 15380490
MESH:D001943 Breast Neoplasms Ascorbic Acid 2.4316443354
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.4317474063
MESH:D001943 Breast Neoplasms Etoposide 2.4316322251
MESH:D001943 Breast Neoplasms Progesterone 2.4317614352 16175315 15562024
MESH:D001943 Breast Neoplasms Tretinoin 2.4316873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1316540662 17138121 10672840 20084675 16698587 16807293 16878318 19171122 19383236 18665156 19701751 18971187 18210153 17761372 18788625 19822196 18056438 19394651 16830150 16288022 16569478 20512989 20727157 3581430 19919837 20007298 19208518 17428255 3084413 17173139 16502159 10737359 19107877 19335982 19539802 21159647 18506893 20524982 16935385 17978847 20214788 11831363 19418558 16779866 16681979 18785209 18691550 19519916 18978308 20935162 16328049 17055752 20432363 19052882 18494052 18393292 20101231 17162532 20514400
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.131917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3416096774 16051514
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.0117174075 2727394 21159647 7505956
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.9019052882
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tretinoin 2.759407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:D003139 Common Cold Ascorbic Acid 5.8517323712
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839664655 8800419 16925845 9125849 9142499 17551590 14991402 10589399 9211117 9224671
MESH:D003924 Diabetes Mellitus, Type 2 Ascorbic Acid 4.9116506275
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.9120387270
MESH:D003929 Diabetic Neuropathies Progesterone 4.8017187935
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.1119107877
MESH:C538011 Eales disease Ascorbic Acid 5.859068938
MESH:D004489 Edema, Cardiac Tretinoin 4.8418230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.0617692515
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2516569247
MESH:D004715 Endometriosis Progesterone 3.9916134523
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D005124 Eye Abnormalities Tretinoin 3.759664655 16938888
MESH:D005234 Fatty Liver Diethylnitrosamine 3.4321071580 20387270
MESH:D005355 Fibrosis Tretinoin 3.8217994277
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital Ascorbic Acid 7.4416080930
MESH:D006330 Heart Defects, Congenital Tretinoin 7.4414991402 9664655
MESH:D006548 Hernia, Diaphragmatic Ascorbic Acid 3.5416490937 16863852
MESH:D006561 Herpes Simplex Etoposide 4.9010809021
MESH:D006689 Hodgkin Disease Etoposide 4.0816200630 15147373 16135485 18180244 17606976
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.7115869954
MESH:D007249 Inflammation Diethylnitrosamine 5.5418785209
MESH:D007249 Inflammation Progesterone 5.5415869954
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.8110783313
MESH:D007569 Jaw Abnormalities Tretinoin 4.1415992940 17551590
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 3.6715369732
MESH:D007938 Leukemia Tretinoin 2.8717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9419285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1116294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 8.4216766008
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 8.4216140955 16935935 16823087 16788101 17712046 17368321 17339181 12679006 17361223 17217047 17294898 17506722 19642359 16766008 9834237 15748426 19035177 16331271 17107899 19225113 19075265 17301526 19029980 17649720 16891316
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9418407596 18665156 20032147 19638242 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1517034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3120501860 20434301 19255062 19551842 19499222 19812893 15885732 19256749 18644402 12771043 15175105 20452335 2862719 16942905 19996281 9163691 19254457 19850985 20583210 12112319 18648771 2422723 18977376 19427195 21167192 20137499 20118626 20492335 18978307 21047994 21071580 19833225 19690152 10737359 19642983 20405173 19294768 19090486 21278145 19073162 18754104 19426721 20101389 19638242
MESH:D008114 Liver Neoplasms, Experimental Ascorbic Acid 6.7618544905
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.7619539802 18164116 18308698 18253720 16267830 18544905 19519916 17942915 16842330 3124819 18282651 18079962 21159647 19126423 19004024 17854601 17174075 18775883 9362446 2563599 19009564 18093689
MESH:D008171 Lung Diseases Ascorbic Acid 4.1016863852
MESH:D008175 Lung Neoplasms Ascorbic Acid 2.8416401635
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.8420512841 20970405 21163286 6695378
MESH:D008223 Lymphoma Etoposide 4.0912854902 12556972
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.0111408345 17203775
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.653581430 9029167
MESH:D009369 Neoplasms Tretinoin 2.5116594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.069125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D009765 Obesity Ascorbic Acid 3.1917217161
MESH:D010051 Ovarian Neoplasms Progesterone 5.1316525653 17393432
MESH:D010051 Ovarian Neoplasms Tretinoin 5.1316936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 9.1516540662
MESH:D010190 Pancreatic Neoplasms Etoposide 9.1519003803
MESH:D010190 Pancreatic Neoplasms Tretinoin 9.1515976015
OMIM:609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE marker/mechanism
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.772563599
MESH:D011471 Prostatic Neoplasms Etoposide 3.9817172428
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D011657 Pulmonary Eosinophilia Ascorbic Acid 5.7114606601
MESH:D012174 Retinitis Pigmentosa Ascorbic Acid 3.3616849425
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616116481 16283617
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9218045962
MESH:D012512 Sarcoma, Ewing's Etoposide 4.9914601052
MESH:D012871 Skin Diseases Ascorbic Acid 3.2618709164
MESH:D012878 Skin Neoplasms Tretinoin 2.7016467112
MESH:D013119 Spinal Cord Injuries Progesterone 4.6216503802 15862959
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.4718456281
MESH:D013274 Stomach Neoplasms Tretinoin 2.4717261132
MESH:D013276 Stomach Ulcer Ascorbic Acid 4.1318726076
MESH:D020521 Stroke Ascorbic Acid 4.4816517955 16403987
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.787505956
MESH:D013964 Thyroid Neoplasms Tretinoin 7.7817045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014820 Vitiligo Tretinoin 4.3416761959
OMIM:611584 WAARDENBURG SYNDROME, TYPE 2E marker/mechanism
OMIM:277580 WAARDENBURG SYNDROME, TYPE 4A marker/mechanism
OMIM:613266 WAARDENBURG SYNDROME, TYPE 4C marker/mechanism
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
MESH:C536771 Yemenite deaf-blind hypopigmentation syndrome marker/mechanism
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36027
    • No data
    Releated disease ID Related disease Name
    PA444478Hirschsprung Disease
    PA446058Waardenburg's Syndrome
    PA154081794Waardenburg-Hirschsprung Disease
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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