AutismKB 2.0

Annotation Detail for GIT1


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Basic Information Top
Gene Symbol:GIT1 ( - )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 1
Band: 17q11.2
Quick LinksEntrez ID:28964; OMIM: 608434; Uniprot ID:GIT1_HUMAN; ENSEMBL ID: ENSG00000108262; HGNC ID: 4272
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04810Regulation of actin cytoskeleton
No data
Pathway IDPathway Name
200178Paxillin-independent events mediated by a4b1 and a4b7
200155Stabilization and expansion of the E-cadherin adherens junction
200060Arf6 signaling events
200166Aurora A signaling
200117Paxillin-dependent events mediated by a4b1
200059Regulation of CDC42 activity
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1745Huntington disease
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of GIT1 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GIT1 mRNAaffects expression 16483693
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of GIT1 mRNAincreases expression 20360939
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000236 Adenoma Diethylnitrosamine 3.086695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.6417162532 19052882 16434500 17620307 18056438 19061943
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1516705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1520512989 18788625 19394651 18210153 20432363 20727157 19107877 19701751 18056438 16878318 19822196 18506893 18665156 17138121 11831363 19171122 3581430 3084413 17428255 17978847 16779866 16502159 16698587 19539802 18691550 20514400 10737359 19052882 18494052 16328049 20084675 18393292 18978308 17173139 18971187 16288022 19383236 19919837 19418558 10672840 20935162 16569478 16807293 16540662 19335982 17055752 20101231 16935385 20524982 19208518 16681979 16830150 17761372 20214788 17162532 20007298 18785209 21159647 19519916
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.157505956 17174075 2727394 21159647
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.1019052882
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.6718551238
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2720387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.2221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.2219107877
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.9816302075
MESH:D005234 Fatty Liver Diethylnitrosamine 3.6721071580 20387270
MESH:D007249 Inflammation Diethylnitrosamine 2.5718785209
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3616705839
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 3.0318407596 19638242 20032147 18665156 18522880
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1817034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3619499222 9163691 19638242 20492335 19294768 2422723 20452335 19256749 19426721 20501860 18644402 20583210 21278145 18978307 18754104 10737359 19690152 19090486 12112319 21047994 12771043 19551842 20137499 19833225 19255062 2862719 18977376 19812893 20101389 20405173 19254457 19073162 18648771 21071580 19996281 21167192 15175105 19850985 20434301 16942905 19642983 19427195 20118626 15885732
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8819519916 9362446 16267830 18544905 19539802 18308698 18775883 19126423 18079962 17174075 19009564 21159647 17942915 2563599 18253720 17854601 16842330 19004024 3124819 18282651 18164116 18093689
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.776695378 20970405 20512841 21163286
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.6018551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.709029167 3581430
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.7320387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.9820387270
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8816049721 12819281
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5416540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.972563599
MESH:D012640 Seizures 2,4-dinitrotoluene 2.8118551238
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.327505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4216049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 5.0610091137
Pathway ID Pathway Name
KEGG:04144 Endocytosis
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:04810 Regulation of actin cytoskeleton
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28683
    • No data
    No data
    Releated drug ID Related drug Name
    PA449177cytarabine
    Drug Bank Top

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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


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