AutismKB 2.0

Annotation Detail for FAM127A


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Basic Information Top
Gene Symbol:FAM127A ( CXX1,MAR8C,MART8C,MGC117411,Mar8,Mart8 )
Gene Full Name: family with sequence similarity 127, member A
Band: Xq26
Quick LinksEntrez ID:8933; OMIM: 300213; Uniprot ID:F127A_HUMAN; ENSEMBL ID: ENSG00000134590; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005472 Fluorouracil FAM127A protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FAM127A mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D000230 Adenocarcinoma Fluorouracil 2.5117638652
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D000740 Anemia Fluorouracil 10.4117963324 16511603 15504547
MESH:D000740 Anemia Tetrachlorodibenzodioxin 10.4111748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Fluorouracil 2.0219217205 18608205 15136595 16110121 16595493 18357371 16557594
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D002276 Carcinoid Tumor Fluorouracil 5.7416051944
MESH:D002277 Carcinoma Fluorouracil 9.5717121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 9.5716835633
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1217088986 18930000 16799960 17045692 17971768 16332177
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.2018695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5916757204 18986760 17066447 16280240
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6016120746 18850075 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2615340226 8697196 15668235 12621046 16354765
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2915001691 17287894 17169374 18772588 16510598 17018589 17725105 16340194 17016597 17172411
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0118949393 17401013 17594712 16282729 17695437 18509181 17094418 16303861 18448328 16331619 15289873 20501625 18288408 18383874 17255274 15148649 14970324 16524972 16391804 17454858 18802399 17016601
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D007644 Darier Disease Fluorouracil 5.6816733453
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5310568697 9294722
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5415173087 16337965 16785472 17638652 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D005910 Glioma Fluorouracil 3.0216145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.7018337622 15162350 15102660
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5511294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1216354765 8697196 18606429 15340226 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D007680 Kidney Neoplasms Fluorouracil 3.7416985049
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Fluorouracil 4.9816603448 17045692 18383874 15113037
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.9816984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Fluorouracil 2.4515246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4511884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.6815086387
MESH:D009062 Mouth Neoplasms Fluorouracil 4.0216757204 18986760
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009369 Neoplasms Fluorouracil 2.8018600527 16928823 18239605
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.7516436463
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7916929163 19003803 16500647 15113037
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811222880 11399792 11118676 11896295
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3418626508 19082440
MESH:D012004 Rectal Neoplasms Fluorouracil 4.4815538739 18286688 18722050 16160472
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0018396642 18567086 17522103 19084572 16424979 19015929 17172411 16951190 15786421 17498489
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D014062 Tongue Neoplasms Fluorouracil 4.5016280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.3816803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
No data
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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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