AutismKB 2.0

Annotation Detail for SF3B1


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Basic Information Top
Gene Symbol:SF3B1 ( Hsh155,PRP10,PRPF10,SAP155,SF3b155 )
Gene Full Name: splicing factor 3b, subunit 1, 155kDa
Band: 2q33.1
Quick LinksEntrez ID:23451; OMIM: 605590; Uniprot ID:SF3B1_HUMAN; ENSEMBL ID: ENSG00000115524; HGNC ID: 10768
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SF3B1 mRNAdecreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SF3B1 mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in increased expression of SF3B1 mRNAincreases expression 17103032
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SF3B1 mRNAdecreases expression 20018196
D008727 Methotrexate SF3B1 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
D010269 Paraquat Paraquat results in increased expression of SF3B1 mRNAincreases expression 12595580
D012643 Selenium [Selenium co-treated with Vitamin E] results in decreased expression of SF3B1 mRNAaffects cotreatment|decreases expression 19244175
D012643 Selenium Selenium results in decreased expression of SF3B1 mRNAdecreases expression 19244175
C004648 testosterone enanthate testosterone enanthate affects the expression of SF3B1 mRNAaffects expression 17440010
C025643 vinclozolin vinclozolin affects the expression of SF3B1 mRNAaffects expression 19015723
D002762 Cholecalciferol Cholecalciferol results in increased expression of SF3B1 mRNAincreases expression 16508948
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in decreased expression of SF3B1 mRNAaffects cotreatment|decreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of SF3B1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 4.4412039119
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.833712494
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.9611874814
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1217286800
MESH:D001327 Autoimmune Diseases Cholecalciferol 5.2016142846
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.241440618 11289319
MESH:D001943 Breast Neoplasms Methotrexate 3.0916978400
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.763581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.737296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.967505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9620889678
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.259022650 19486331
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.039562676 12039119
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.0319769572
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003550 Cystic Fibrosis Methotrexate 4.3719747007
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.972524372 11906362 8156756 11298694 14531868 8970840 18759878 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.643621924 2952479
MESH:D003882 Dermatomyositis Methotrexate 5.2920191521
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.057440962 8291058 16192314 9653073 9022650 18692083 1440618 11289319 9328219 18648102 6482804 18289764 6679447
MESH:D056486 Drug-Induced Liver Injury Selenium 4.0515131321
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.493581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4920426865
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.246705139
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005911 Gliosis Paraquat 5.3811124998
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.197505956
MESH:D006086 Graft vs Host Disease Methotrexate 5.3216518429
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0516080930
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.676705139
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416863852 16490937
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.9617440010
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1115034207
MESH:D007248 Infertility, Male Paraquat 7.254850670
MESH:D007248 Infertility, Male vinclozolin 7.2516467254
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.248074119 9022650
MESH:D007674 Kidney Diseases Vitamin E 2.8812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.086582329
MESH:D007805 Language Development Disorders Methotrexate 5.259562676
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008103 Liver Cirrhosis Methotrexate 3.7714986274
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.289327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9016169303
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.61598648 3712494 1399818 6587162
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.2418516814
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008223 Lymphoma Methotrexate 4.0517352296
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8515318939
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D052016 Mucositis Methotrexate 5.4717488658
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.523581430
MESH:D009410 Nerve Degeneration Paraquat 3.8216893418
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.006679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.554026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.243988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.667296757
MESH:D010300 Parkinson Disease Paraquat 2.8616140633 11124998 11445065 11181820 15451049 12911755 15824117 16510128
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.6116190885
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.696228378
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D011014 Pneumonia Paraquat 4.6512504350
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.0918042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Cholecalciferol 3.6117024972
MESH:D011471 Prostatic Neoplasms Vitamin E 3.6115084515
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011565 Psoriasis Methotrexate 3.4717410198
MESH:D011658 Pulmonary Fibrosis Paraquat 2.9617997886 16324872
MESH:D051437 Renal Insufficiency Methotrexate 4.8917352296
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.0511700416
MESH:D012135 Respiratory Sounds Paraquat 4.2311874814
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 9.263692021
MESH:D012162 Retinal Degeneration Paraquat 9.2616458197
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D013576 Syndactyly Methotrexate 5.209562676
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.991399818 6582329 6587162 7505956 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.328074119
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
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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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