AutismKB 2.0

Annotation Detail for SHKBP1


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Basic Information Top
Gene Symbol:SHKBP1 ( Sb1 )
Gene Full Name: SH3KBP1 binding protein 1
Band: 19q13.2
Quick LinksEntrez ID:92799; OMIM: NA; Uniprot ID:SHKB1_HUMAN; ENSEMBL ID: ENSG00000160410; HGNC ID: 19214
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SHKBP1 mRNAaffects expression 21346803
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SHKBP1 mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of SHKBP1 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8914692618
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001943 Breast Neoplasms Tamoxifen 2.1619066611 18629630 16818667 18855134 17049068 18351453 19244106 19155303 19487384 20135344 20859285 19059307 17440819 15565566 18984771 16273361 18425577 19142967 20390343 19115204 20005174 11161223 18997820 15668708 18821012 16202921 21152245 19103187 19084267 19221464 20065188 17893378 19189212 19288272 19189210 19289846 19410462 17242785 19200415 21138602 18815881 20544844 19011961 16873071 17261762
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1416705839
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.1416924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017333356 17681005 16919318 15861022 16105132 11677210 17110522
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.6718551238
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 2.0621346803 18551238
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.9612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.9619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3119155303 20544844 16202921 17893378
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.3415345470
MESH:D005234 Fatty Liver Tamoxifen 9.3414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007249 Inflammation Tamoxifen 2.5519457130
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.7016705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.7018625569
MESH:D008064 Lipidoses Tamoxifen 3.4615342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Tamoxifen 2.3416684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7518625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8814580682 19196723 19196722 16827153 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.6018551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719196722 19200415 19189210
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8812819281 16049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D012640 Seizures 2,4-dinitrotoluene 2.8118551238
MESH:D013088 Spermatocele Ethinyl Estradiol 14.6716709447
MESH:D013088 Spermatocele Tamoxifen 14.6716709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.5016049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.5017572228 16712894 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 5.0610091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0214671159 15869587
No data
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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