AutismKB 2.0

Annotation Detail for RPUSD1


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Basic Information Top
Gene Symbol:RPUSD1 ( C16orf40,MGC19600,RLUCL )
Gene Full Name: RNA pseudouridylate synthase domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:113000; OMIM: NA; Uniprot ID:RUSD1_HUMAN; ENSEMBL ID: ENSG00000007376; HGNC ID: 14173
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of RPUSD1 mRNAdecreases expression 18648102
D012645 Selenomethionine Selenomethionine affects the expression of RPUSD1 mRNAaffects expression 17222674
D018038 Sodium Selenite Sodium Selenite results in increased expression of RPUSD1 mRNAincreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.891440618 11289319
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.479022650 19486331
MESH:D019457 Chromosome Breakage Sodium Selenite 5.4115894690
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4411906362 8156756 8970840 2524372 11298694 12868966 18759878 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.023621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1916285004
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.3016192314 18692083 7440962 9653073 6679447 9328219 9022650 1440618 18289764 18648102 11289319 8291058 6482804
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.3015131321
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D007333 Insulin Resistance Sodium Selenite 3.5414714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.899022650 8074119
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.449327722 15034207
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.783712494 598648 1399818 6587162
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.5914737004
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.874026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3318760546
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.227505956 1399818 6582329 6587162 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
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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