AutismKB 2.0

Annotation Detail for SEPT5


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Basic Information Top
Gene Symbol:SEPT5 ( CDCREL,CDCREL-1,CDCREL1,H5,PNUTL1 )
Gene Full Name: septin 5
Band: 22q11.21
Quick LinksEntrez ID:5413; OMIM: 602724; Uniprot ID:SEPT5_HUMAN; ENSEMBL ID: ENSG00000184702; HGNC ID: 9164
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05012Parkinson's disease
No data
No data
Pathway IDPathway Name
P00049Parkinson disease
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SEPT5 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SEPT5 mRNAaffects expression 16483693
D002330 Carmustine Carmustine results in decreased expression of SEPT5 mRNAdecreases expression 15980968
D017313 Fenretinide Fenretinide results in decreased expression of SEPT5 mRNAdecreases expression 16467112
C058346 N-(4-methoxyphenyl)retinamide N-(4-methoxyphenyl)retinamide results in decreased expression of SEPT5 mRNAdecreases expression 16467112
D010126 Ozone Ozone results in increased expression of SEPT5 mRNAincreases expression 12763052
D010656 Phenylephrine Phenylephrine results in increased expression of SEPT5 mRNAincreases expression 18158353
D014212 Tretinoin Tretinoin results in increased expression of SEPT5 mRNAincreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000230 Adenocarcinoma Fenretinide 3.1610697514
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000544 Alzheimer Disease Ozone 2.4815513908
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.3417460149
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Ozone 4.8315570426
MESH:D001172 Arthritis, Rheumatoid Tretinoin 4.8316292516
MESH:D001249 Asthma Ozone 5.1617854713 16373670
MESH:D001249 Asthma Tretinoin 5.1616456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.8516197459 16206674
MESH:D001919 Bradycardia Phenylephrine 4.8815306635
MESH:D001932 Brain Neoplasms Carmustine 10.1016187019
MESH:D001932 Brain Neoplasms Fenretinide 10.1016187019
MESH:D001943 Breast Neoplasms Fenretinide 2.4916601279
MESH:D001943 Breast Neoplasms Tretinoin 2.4916443354 16166294 16873071
MESH:D016535 Bronchial Hyperreactivity Ozone 3.8718417511 18315731 15516495 16777450 17626835 14754758 19059883
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D002100 Cachexia Ozone 5.0816183385
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.843084413
MESH:D006528 Carcinoma, Hepatocellular Fenretinide 4.8416270382 17159502
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.841917145
MESH:D002294 Carcinoma, Squamous Cell Fenretinide 5.1816274795
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 5.1816096774 16051514
MESH:D006332 Cardiomegaly Phenylephrine 3.6517287366 11754973 16170337 17124262 15728586 11179087
MESH:D002386 Cataract Acetaminophen 7.6610977129
MESH:D002386 Cataract Tretinoin 7.6617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Fenretinide 14.1316154183
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 14.1316129372
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tretinoin 2.759407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:D015179 Colorectal Neoplasms Fenretinide 2.6917273769
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839211117 9125849 16925845 10589399 9224671 17551590 9142499 8800419 14991402 9664655
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6414550746 10915739 12594235 10663392 12392966 19085960 19923254 11739529 16393943 16109766 2444490 18713872 12540782 16227642 11421492 18071297 11529661 14986274 17522070 11461765 19370779 12705907 12153990 16081117 10774834 16177239 16485898 11834606 15619225 19739265 19164858 14725611 19420014 11287661 15968718 16781746 17562736 17906064 11743745 19416960 12958197
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004489 Edema, Cardiac Tretinoin 4.8418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2516569247
MESH:D005124 Eye Abnormalities Tretinoin 3.759664655 16938888
MESH:D005355 Fibrosis Tretinoin 3.8217994277
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005909 Glioblastoma Carmustine 12.9716187019
MESH:D005909 Glioblastoma Fenretinide 12.9716187019
MESH:D005909 Glioblastoma Tretinoin 12.9717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0114991402 9664655
MESH:D006930 Hyperalgesia Acetaminophen 8.2716870215
MESH:D006930 Hyperalgesia Tretinoin 8.2716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006973 Hypertension Phenylephrine 3.158949925 12717712
MESH:D006984 Hypertrophy Phenylephrine 4.8012791704 18502941
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1417551590 15992940
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007938 Leukemia Tretinoin 2.8717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9416482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1119850784 17596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.309834237 19642359 17294898 17506722 19225113 16331271 16823087 17217047 19075265 15748426 16788101 16766008 17301526 17368321 16891316 12679006 17361223 17712046 19029980 16140955 19035177 17339181 17649720 16935935 17107899
MESH:D007972 Leukoplakia, Oral Fenretinide 6.4216707609
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 1.6719014921 16611625 12969438 12587719 19460945 11587558 16610002 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008171 Lung Diseases Ozone 3.538266340 19066396
MESH:D055370 Lung Injury Ozone 4.1520417186
MESH:D008175 Lung Neoplasms Ozone 2.108597069 7614698
MESH:D008325 Mammary Neoplasms, Experimental Fenretinide 3.7110697514
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Carmustine 5.5412393984
MESH:D008545 Melanoma Fenretinide 5.5416270382
MESH:D008545 Melanoma Tretinoin 5.5416752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D008679 Metaplasia Ozone 5.4810496685
MESH:D009062 Mouth Neoplasms Fenretinide 4.5016274795
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D009369 Neoplasms Fenretinide 5.7617353921 15958647
MESH:D009369 Neoplasms Tretinoin 5.7616594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.069125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009472 Neuronal Ceroid-Lipofuscinoses Fenretinide 6.0216303764
MESH:D010051 Ovarian Neoplasms Fenretinide 5.3916133793
MESH:D010051 Ovarian Neoplasms Tretinoin 5.3916936753
MESH:D010146 Pain Acetaminophen 7.2616870215
MESH:D010146 Pain Tretinoin 7.2616870215
MESH:D010190 Pancreatic Neoplasms Fenretinide 5.8415580305
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.8415976015
MESH:D010538 Peritonitis Ozone 4.4416369182
MESH:D011014 Pneumonia Ozone 4.7318929643 18007984 18381685
MESH:D011471 Prostatic Neoplasms Fenretinide 4.0617024972
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D012162 Retinal Degeneration Fenretinide 4.5816303925
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616283617 16116481
MESH:D012852 Sinusitis Phenylephrine 5.047327846
MESH:D012878 Skin Neoplasms Fenretinide 10.4416467112
MESH:D012878 Skin Neoplasms N-(4-methoxyphenyl)retinamide 10.4416467112
MESH:D012878 Skin Neoplasms Tretinoin 10.4416467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2116026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D001749 Urinary Bladder Neoplasms Fenretinide 3.3816720286
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D002583 Uterine Cervical Neoplasms Fenretinide 10.4716154183
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 10.4716129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
Pathway ID Pathway Name
KEGG:05012 Parkinson's disease
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  (e.g. CHD8)

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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