IQCJ-SCHIP1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)5.32238580
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.10641010
3cell adhesion mediated by integrin (GO:0033627)4.56781609
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.28097595
5skin morphogenesis (GO:0043589)4.17585714
6cytoskeletal anchoring at plasma membrane (GO:0007016)4.08879156
7protein localization to endosome (GO:0036010)4.08528758
8cell-substrate junction assembly (GO:0007044)4.03989731
9Golgi transport vesicle coating (GO:0048200)3.99137467
10COPI coating of Golgi vesicle (GO:0048205)3.99137467
11glutamate secretion (GO:0014047)3.98096323
12synaptic vesicle maturation (GO:0016188)3.68036038
13negative regulation of synaptic transmission, GABAergic (GO:0032229)3.59936679
14regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.55854999
15wound healing, spreading of epidermal cells (GO:0035313)3.43679839
16endodermal cell differentiation (GO:0035987)3.39392767
17adherens junction assembly (GO:0034333)3.37470005
18dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.36742932
19cell-substrate adherens junction assembly (GO:0007045)3.33797970
20focal adhesion assembly (GO:0048041)3.33797970
21substrate-dependent cell migration (GO:0006929)3.24489368
22axon extension (GO:0048675)3.24168548
23activation of Rac GTPase activity (GO:0032863)3.22578624
24neuron projection extension (GO:1990138)3.20809711
25protein localization to microtubule (GO:0035372)3.15763073
26regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.13766630
27maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.12507630
28protein heterotrimerization (GO:0070208)3.11571794
29protein retention in ER lumen (GO:0006621)3.10820133
30positive regulation of axon extension (GO:0045773)3.10277942
31kidney mesenchyme development (GO:0072074)3.08649708
32layer formation in cerebral cortex (GO:0021819)3.02107909
33negative regulation of axon extension involved in axon guidance (GO:0048843)3.01822366
34heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.01307858
35planar cell polarity pathway involved in neural tube closure (GO:0090179)2.95503081
36collagen fibril organization (GO:0030199)2.94647125
37regulation of axon extension involved in axon guidance (GO:0048841)2.92639067
38heparan sulfate proteoglycan metabolic process (GO:0030201)2.92132328
39desmosome organization (GO:0002934)2.91291705
40neuron projection extension involved in neuron projection guidance (GO:1902284)2.87657279
41axon extension involved in axon guidance (GO:0048846)2.87657279
42wound healing, spreading of cells (GO:0044319)2.84058300
43basement membrane organization (GO:0071711)2.83166043
44negative regulation of axon guidance (GO:1902668)2.81253373
45regulation of axon guidance (GO:1902667)2.80410106
46negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.80150277
47cell migration involved in sprouting angiogenesis (GO:0002042)2.79839127
48type B pancreatic cell proliferation (GO:0044342)2.78418535
49negative regulation of chondrocyte differentiation (GO:0032331)2.77669733
50regulation of translational termination (GO:0006449)2.77092587
51positive regulation of blood vessel endothelial cell migration (GO:0043536)2.74709525
52facial nerve structural organization (GO:0021612)2.73687819
53cellular potassium ion homeostasis (GO:0030007)2.73030404
54retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.72822871
55protein targeting to plasma membrane (GO:0072661)2.71304715
56positive regulation of synapse maturation (GO:0090129)2.70606706
57bone trabecula formation (GO:0060346)2.69729684
58regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.69148427
59peptidyl-proline hydroxylation (GO:0019511)2.68583744
60endothelial cell morphogenesis (GO:0001886)2.67070434
61protein hydroxylation (GO:0018126)2.65631609
62semaphorin-plexin signaling pathway (GO:0071526)2.64220901
63glial cell migration (GO:0008347)2.61494470
64regulation of glomerular filtration (GO:0003093)2.58925122
65regulation of early endosome to late endosome transport (GO:2000641)2.56555117
66plasma membrane repair (GO:0001778)2.54087114
67regulation of mammary gland epithelial cell proliferation (GO:0033599)2.52362580
68stress fiber assembly (GO:0043149)2.51694481
69endocytic recycling (GO:0032456)2.51190651
70response to gravity (GO:0009629)2.49929630
71actin filament bundle assembly (GO:0051017)2.49854534
72actin filament bundle organization (GO:0061572)2.49854534
73adherens junction organization (GO:0034332)2.49389419
74developmental cell growth (GO:0048588)2.49160666
75hypotonic response (GO:0006971)2.47413547
76chondrocyte proliferation (GO:0035988)2.46542329
77G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.44726111
78barbed-end actin filament capping (GO:0051016)2.44072792
79hippo signaling (GO:0035329)2.42690693
80blood vessel endothelial cell migration (GO:0043534)2.41834241
81cell junction assembly (GO:0034329)2.40321342
82epithelial cell-cell adhesion (GO:0090136)2.39964382
83mesodermal cell differentiation (GO:0048333)2.38374814
84collagen metabolic process (GO:0032963)2.37002556
85actin filament depolymerization (GO:0030042)2.36021458
86Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.35087537
87vesicle coating (GO:0006901)2.34892806
88cell migration involved in heart development (GO:0060973)2.34865059
89mesoderm formation (GO:0001707)2.34275700
90retina vasculature morphogenesis in camera-type eye (GO:0061299)2.32411982
91vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.31572922
92regulation of neuronal synaptic plasticity (GO:0048168)2.29793380
93nuclear envelope reassembly (GO:0031468)2.29450407
94mitotic nuclear envelope reassembly (GO:0007084)2.29450407
95positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.29015569
96protein maturation by protein folding (GO:0022417)2.26808052
97regulation of transforming growth factor beta1 production (GO:0032908)2.25152346
98lymphangiogenesis (GO:0001946)2.24668323
99cell junction organization (GO:0034330)2.24169839
100negative regulation of embryonic development (GO:0045992)2.24059909

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.75623890
2RARG_19884340_ChIP-ChIP_MEFs_Mouse3.38711118
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.31620478
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.09366121
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.89139826
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.50513063
7ELK3_25401928_ChIP-Seq_HUVEC_Human2.34218237
8ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.33806829
9SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.33168677
10EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.25694222
11STAT6_21828071_ChIP-Seq_BEAS2B_Human2.24859790
12WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.24538322
13RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.24212586
14TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.06878782
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.01920609
16P300_27058665_Chip-Seq_ZR-75-30cells_Human1.99648505
17ZNF263_19887448_ChIP-Seq_K562_Human1.98675822
18UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.97628629
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.95441565
20RNF2_18974828_ChIP-Seq_MESCs_Mouse1.92268714
21EZH2_18974828_ChIP-Seq_MESCs_Mouse1.92268714
22CLOCK_20551151_ChIP-Seq_293T_Human1.88724751
23SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.88019999
24SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.88019999
25ZFP281_18757296_ChIP-ChIP_E14_Mouse1.76759825
26SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.76043183
27TP53_22127205_ChIP-Seq_IMR90_Human1.75051489
28KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.73630643
29TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.70689800
30KDM2B_26808549_Chip-Seq_K562_Human1.69726163
31HIF1A_21447827_ChIP-Seq_MCF-7_Human1.69094271
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.65761500
33TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63564478
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63030877
35SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.62724373
36SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.61249440
37SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.58837930
38RACK7_27058665_Chip-Seq_MCF-7_Human1.55766171
39BRD4_25478319_ChIP-Seq_HGPS_Human1.55183255
40UBF1/2_26484160_Chip-Seq_HMECs_Human1.53362275
41MTF2_20144788_ChIP-Seq_MESCs_Mouse1.52986029
42KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.52214071
43DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.51170672
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.47867201
45JARID2_20064375_ChIP-Seq_MESCs_Mouse1.47785892
46LXR_22292898_ChIP-Seq_THP-1_Human1.46380216
47KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.46092063
48ATF3_27146783_Chip-Seq_COLON_Human1.45960792
49TET1_21490601_ChIP-Seq_MESCs_Mouse1.45576835
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44511838
51FOXM1_23109430_ChIP-Seq_U2OS_Human1.43526190
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.43142077
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.42839993
54ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.42145126
55ZFP281_27345836_Chip-Seq_ESCs_Mouse1.41926003
56TP53_23651856_ChIP-Seq_MEFs_Mouse1.40895199
57WT1_19549856_ChIP-ChIP_CCG9911_Human1.40732008
58JARID2_20075857_ChIP-Seq_MESCs_Mouse1.40507421
59SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.40399392
60RARB_27405468_Chip-Seq_BRAIN_Mouse1.40368156
61EZH2_27304074_Chip-Seq_ESCs_Mouse1.40304402
62SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.40281105
63POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.40241107
64RNF2_27304074_Chip-Seq_ESCs_Mouse1.35500924
65SOX9_24532713_ChIP-Seq_HFSC_Mouse1.34626412
66ERG_21242973_ChIP-ChIP_JURKAT_Human1.33744493
67EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.32190329
68TP53_20018659_ChIP-ChIP_R1E_Mouse1.31366307
69ESR2_21235772_ChIP-Seq_MCF-7_Human1.30927903
70NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29570705
71CJUN_26792858_Chip-Seq_BT549_Human1.29180627
72AR_21909140_ChIP-Seq_LNCAP_Human1.28733394
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28074460
74SRY_22984422_ChIP-ChIP_TESTIS_Rat1.26454288
75HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.25326300
76JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.25100634
77EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.23678740
78KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18822795
79DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.17906607
80TP53_18474530_ChIP-ChIP_U2OS_Human1.17653025
81SMC1_22415368_ChIP-Seq_MEFs_Mouse1.17505038
82SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.15532557
83NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.15131690
84CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.13338758
85KLF4_18555785_ChIP-Seq_MESCs_Mouse1.13096415
86EP300_21415370_ChIP-Seq_HL-1_Mouse1.08644401
87TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.08105118
88BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.04473170
89CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.03196487
90TET1_21451524_ChIP-Seq_MESCs_Mouse1.01713181
91JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01505346
92MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.01289370
93MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.00999668
94ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.00188061
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99802166
96DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99052604
97KDM2B_26808549_Chip-Seq_JURKAT_Human0.98328130
98EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.97995990
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.96844230
100CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.96095172

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.82310416
2MP0003705_abnormal_hypodermis_morpholog4.46083958
3MP0005623_abnormal_meninges_morphology3.96458113
4MP0004272_abnormal_basement_membrane3.45675071
5MP0004859_abnormal_synaptic_plasticity3.21248349
6MP0003566_abnormal_cell_adhesion3.02369972
7MP0005257_abnormal_intraocular_pressure2.83574642
8MP0010368_abnormal_lymphatic_system2.50040023
9MP0005275_abnormal_skin_tensile2.49050438
10MP0002877_abnormal_melanocyte_morpholog2.46169825
11MP0000579_abnormal_nail_morphology2.36132974
12MP0010030_abnormal_orbit_morphology2.16073617
13MP0001958_emphysema2.08248109
14MP0000013_abnormal_adipose_tissue2.02171832
15MP0005409_darkened_coat_color2.01755530
16MP0003091_abnormal_cell_migration1.99893025
17MP0003279_aneurysm1.96086832
18MP0010352_gastrointestinal_tract_polyps1.91074525
19MP0003950_abnormal_plasma_membrane1.89894669
20MP0000537_abnormal_urethra_morphology1.86892921
21MP0002060_abnormal_skin_morphology1.86152003
22MP0001348_abnormal_lacrimal_gland1.82603386
23MP0003941_abnormal_skin_development1.78811127
24MP0000762_abnormal_tongue_morphology1.76026935
25MP0010234_abnormal_vibrissa_follicle1.73650768
26MP0009053_abnormal_anal_canal1.68129272
27MP0000534_abnormal_ureter_morphology1.58913039
28MP0009780_abnormal_chondrocyte_physiolo1.57742254
29MP0005023_abnormal_wound_healing1.49856760
30MP0005503_abnormal_tendon_morphology1.48514648
31MP0000003_abnormal_adipose_tissue1.47531725
32MP0004270_analgesia1.46109745
33MP0002796_impaired_skin_barrier1.43279114
34MP0001299_abnormal_eye_distance/1.42531877
35MP0003329_amyloid_beta_deposits1.42131882
36MP0002896_abnormal_bone_mineralization1.33248742
37MP0005501_abnormal_skin_physiology1.31784907
38MP0000733_abnormal_muscle_development1.30574707
39MP0003635_abnormal_synaptic_transmissio1.28024555
40MP0004858_abnormal_nervous_system1.26018686
41MP0000751_myopathy1.25795618
42MP0000767_abnormal_smooth_muscle1.24522311
43MP0001849_ear_inflammation1.21840570
44MP0001243_abnormal_dermal_layer1.21242920
45MP0002295_abnormal_pulmonary_circulatio1.21146836
46MP0001542_abnormal_bone_strength1.18915216
47MP0009384_cardiac_valve_regurgitation1.15864077
48MP0000467_abnormal_esophagus_morphology1.15417406
49MP0010771_integument_phenotype1.13501174
50MP0004233_abnormal_muscle_weight1.08356932
51MP0002734_abnormal_mechanical_nocicepti1.05067306
52MP0005508_abnormal_skeleton_morphology1.03353549
53MP0003942_abnormal_urinary_system1.02791943
54MP0000778_abnormal_nervous_system1.02274122
55MP0001879_abnormal_lymphatic_vessel0.99614129
56MP0000569_abnormal_digit_pigmentation0.98967161
57MP0005595_abnormal_vascular_smooth0.98736332
58MP0002063_abnormal_learning/memory/cond0.93570373
59MP0002184_abnormal_innervation0.92637081
60MP0002089_abnormal_postnatal_growth/wei0.92610195
61MP0009250_abnormal_appendicular_skeleto0.92486562
62MP0005197_abnormal_uvea_morphology0.92455901
63MP0003385_abnormal_body_wall0.91542463
64MP0000428_abnormal_craniofacial_morphol0.90538137
65MP0003755_abnormal_palate_morphology0.89036385
66MP0000759_abnormal_skeletal_muscle0.86940147
67MP0003453_abnormal_keratinocyte_physiol0.86672113
68MP0001915_intracranial_hemorrhage0.85956351
69MP0000678_abnormal_parathyroid_gland0.85851617
70MP0005076_abnormal_cell_differentiation0.85461567
71MP0002234_abnormal_pharynx_morphology0.84475839
72MP0001216_abnormal_epidermal_layer0.83532888
73MP0003191_abnormal_cellular_cholesterol0.81802484
74MP0008260_abnormal_autophagy0.80075083
75MP0004811_abnormal_neuron_physiology0.78142212
76MP0005621_abnormal_cell_physiology0.77661976
77MP0004185_abnormal_adipocyte_glucose0.77589275
78MP0000749_muscle_degeneration0.77321193
79MP0003283_abnormal_digestive_organ0.75487624
80MP0002177_abnormal_outer_ear0.72408272
81MP0003634_abnormal_glial_cell0.71516722
82MP0000462_abnormal_digestive_system0.71365178
83MP0002572_abnormal_emotion/affect_behav0.71085165
84MP0003935_abnormal_craniofacial_develop0.70948777
85MP0000750_abnormal_muscle_regeneration0.70901432
86MP0006054_spinal_hemorrhage0.69019135
87MP0004134_abnormal_chest_morphology0.67818337
88MP0002081_perinatal_lethality0.67713566
89MP0003115_abnormal_respiratory_system0.67221075
90MP0010386_abnormal_urinary_bladder0.66674186
91MP0002735_abnormal_chemical_nociception0.66606849
92MP0001340_abnormal_eyelid_morphology0.65806245
93MP0005423_abnormal_somatic_nervous0.64267420
94MP0003861_abnormal_nervous_system0.63189876
95MP0005193_abnormal_anterior_eye0.62838706
96MP0000747_muscle_weakness0.62832845
97MP0002114_abnormal_axial_skeleton0.62378586
98MP0003880_abnormal_central_pattern0.61210924
99MP0003937_abnormal_limbs/digits/tail_de0.60817461
100MP0002092_abnormal_eye_morphology0.59825085

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)6.47081604
2Protrusio acetabuli (HP:0003179)4.87352271
3Atrophic scars (HP:0001075)4.30584265
4Ankle contracture (HP:0006466)3.84515779
5Fragile skin (HP:0001030)3.49832935
6Follicular hyperkeratosis (HP:0007502)3.33150882
7Short nail (HP:0001799)3.27354730
8Spinal rigidity (HP:0003306)3.27195144
9Vascular tortuosity (HP:0004948)3.13761242
10Wormian bones (HP:0002645)3.13726125
11Shallow orbits (HP:0000586)3.10887690
12Ulnar bowing (HP:0003031)3.02737940
13Bladder diverticulum (HP:0000015)2.99429030
14Arterial tortuosity (HP:0005116)2.99289825
15Aortic dissection (HP:0002647)2.98268433
16Lower limb amyotrophy (HP:0007210)2.98263218
17Distal lower limb amyotrophy (HP:0008944)2.97491461
18Abnormality of dentin (HP:0010299)2.94073213
19Vertebral compression fractures (HP:0002953)2.76269626
20Hyperacusis (HP:0010780)2.70510408
21Elbow flexion contracture (HP:0002987)2.59572764
22Achilles tendon contracture (HP:0001771)2.58714892
23Osteolytic defects of the hand bones (HP:0009699)2.57144145
24Osteolytic defects of the phalanges of the hand (HP:0009771)2.57144145
25Soft skin (HP:0000977)2.56233344
26Cervical subluxation (HP:0003308)2.55381655
27Difficulty climbing stairs (HP:0003551)2.51247672
28Insomnia (HP:0100785)2.45903319
29Distal upper limb amyotrophy (HP:0007149)2.44179730
30Upper limb amyotrophy (HP:0009129)2.44179730
31Genu recurvatum (HP:0002816)2.40869265
32Increased connective tissue (HP:0009025)2.35920194
33Type 1 muscle fiber predominance (HP:0003803)2.34528629
34Natal tooth (HP:0000695)2.33407132
35Mildly elevated creatine phosphokinase (HP:0008180)2.30070659
36Aortic aneurysm (HP:0004942)2.28655591
37Bowel diverticulosis (HP:0005222)2.25000424
38Bowed forearm bones (HP:0003956)2.23378278
39Bowing of the arm (HP:0006488)2.23378278
40Dilatation of the ascending aorta (HP:0005111)2.21003711
41Mitral regurgitation (HP:0001653)2.19594043
42Reduced subcutaneous adipose tissue (HP:0003758)2.16792254
43Abnormality of the Achilles tendon (HP:0005109)2.16545215
44Broad face (HP:0000283)2.13017976
45Mitral valve prolapse (HP:0001634)2.12984385
46Hyperextensible skin (HP:0000974)2.12444893
47Hypoventilation (HP:0002791)2.11622933
48Slender build (HP:0001533)2.10836038
49Abnormality of the distal phalanges of the toes (HP:0010182)2.10036913
50Neonatal short-limb short stature (HP:0008921)2.09420855
51Distal lower limb muscle weakness (HP:0009053)2.09034630
52Blue sclerae (HP:0000592)2.07857167
53Joint laxity (HP:0001388)1.99240861
54Abnormality of oral frenula (HP:0000190)1.97302697
55Aplasia involving bones of the upper limbs (HP:0009823)1.96484562
56Aplasia of the phalanges of the hand (HP:0009802)1.96484562
57Aplasia involving bones of the extremities (HP:0009825)1.96484562
58Spinal cord compression (HP:0002176)1.96410857
59Ankyloglossia (HP:0010296)1.95966454
60Hand muscle atrophy (HP:0009130)1.95197265
61Coronal craniosynostosis (HP:0004440)1.94108961
62Milia (HP:0001056)1.92561648
63Entropion (HP:0000621)1.92179615
64Wrist flexion contracture (HP:0001239)1.91118019
65Fragile nails (HP:0001808)1.90401836
66Cerebral inclusion bodies (HP:0100314)1.90063229
67Supranuclear gaze palsy (HP:0000605)1.89511147
68Broad metatarsal (HP:0001783)1.87323106
69Renal duplication (HP:0000075)1.86713222
70Aortic regurgitation (HP:0001659)1.86372096
71Neurofibrillary tangles (HP:0002185)1.85525469
72Mitral stenosis (HP:0001718)1.83483513
73Disproportionate tall stature (HP:0001519)1.83251464
74Termporal pattern (HP:0011008)1.78198337
75Insidious onset (HP:0003587)1.78198337
76Trismus (HP:0000211)1.77202733
77Biconcave vertebral bodies (HP:0004586)1.77177276
78Bradycardia (HP:0001662)1.77113502
79Knee flexion contracture (HP:0006380)1.76587805
80Onycholysis (HP:0001806)1.76169077
81Obstructive sleep apnea (HP:0002870)1.75393127
82Radial bowing (HP:0002986)1.74706557
83Congenital glaucoma (HP:0001087)1.72606946
84Increased variability in muscle fiber diameter (HP:0003557)1.72423866
85Generalized amyotrophy (HP:0003700)1.72368447
86Abnormal delivery (HP:0001787)1.72053428
87Abnormality of nail color (HP:0100643)1.71288415
88Nail dystrophy (HP:0008404)1.69695122
89Abnormality of the acetabulum (HP:0003170)1.69442958
90Abnormal ossification of hand bones (HP:0005921)1.65770118
91Limb-girdle muscle weakness (HP:0003325)1.65656891
92Cerebral aneurysm (HP:0004944)1.65249914
93Selective tooth agenesis (HP:0001592)1.65213786
94Abnormality of the umbilical cord (HP:0010881)1.64032672
95Hallux valgus (HP:0001822)1.63574170
96Upper limb muscle weakness (HP:0003484)1.63535054
97Advanced eruption of teeth (HP:0006288)1.62288193
98Tibial bowing (HP:0002982)1.61631516
99Deviation of the hallux (HP:0010051)1.60647832
100Overgrowth (HP:0001548)1.60238726

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS24.00589578
2EPHA23.60169864
3NTRK13.18400665
4NME22.83339312
5TTN2.82106201
6MST1R2.62083620
7PTK22.52024665
8PDGFRA2.43473503
9EPHA42.42406046
10PAK62.29075993
11ARAF2.26687207
12MET2.22230276
13TRIB32.16234916
14IRAK32.03542207
15MARK12.03457904
16TESK12.00248574
17EPHB21.99466188
18RIPK11.83998268
19LIMK11.82113959
20ERBB41.69411325
21ICK1.62740001
22SMG11.59778617
23PAK41.59711401
24MAP3K91.59175122
25MYLK1.50287702
26MOS1.46227746
27PAK21.34912660
28LMTK21.26124934
29STK381.24469317
30SIK11.22681836
31SCYL21.22109939
32BRAF1.11985155
33BRSK11.06744874
34NEK91.05280070
35DAPK11.03774445
36DDR21.02424905
37LATS11.02198902
38BUB10.98794252
39TESK20.98471694
40ILK0.97907107
41EEF2K0.93340196
42ABL20.93137719
43PIM20.89968529
44PRKD30.87254420
45KSR20.85784472
46CAMK2B0.84292187
47RPS6KA20.83289748
48ROCK20.82842028
49TAOK20.81997180
50MTOR0.78408318
51PRPF4B0.77715034
52PBK0.77136966
53KSR10.75998660
54CASK0.75610518
55PRKD20.71778621
56PHKG10.71288355
57PHKG20.71288355
58MAP3K120.70811535
59CDK150.70607152
60CAMK2G0.68495280
61CDK180.68211932
62CDK120.67094798
63MINK10.66512131
64CDK11A0.65632552
65DAPK30.64765234
66CDK140.64713640
67PDGFRB0.64102833
68FLT30.63815357
69EPHB10.62824178
70CDK80.60053984
71AURKA0.59145429
72PRKG20.57558077
73PAK10.56868548
74PKN20.54341998
75MAP3K30.53399170
76TGFBR20.53082491
77CAMKK10.52962382
78RAF10.49942559
79ROCK10.46418162
80AKT30.44225639
81CDK50.43402870
82BMX0.43034279
83PLK20.42466273
84MAP3K80.41932807
85TSSK60.41460096
86AKT20.40329540
87MAP2K10.39531385
88MAP3K60.38148448
89PTK2B0.37901432
90PRKCI0.37889179
91CSNK1A1L0.37238654
92CCNB10.36521733
93PNCK0.36190218
94SIK20.35221553
95CSNK1G30.30781668
96NTRK30.29973357
97GSK3A0.29408732
98PDPK10.28567515
99CAMK2D0.27818124
100PTK60.26950497

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.59088364
2ECM-receptor interaction_Homo sapiens_hsa045122.41090568
3Focal adhesion_Homo sapiens_hsa045102.11175145
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.07005877
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.04003726
6Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.98437079
7Synaptic vesicle cycle_Homo sapiens_hsa047211.87951780
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.77491053
9Hippo signaling pathway_Homo sapiens_hsa043901.71734630
10Long-term potentiation_Homo sapiens_hsa047201.65217301
11Glioma_Homo sapiens_hsa052141.59191268
12Proteoglycans in cancer_Homo sapiens_hsa052051.58452310
13Axon guidance_Homo sapiens_hsa043601.52648772
14Dilated cardiomyopathy_Homo sapiens_hsa054141.52178058
15Gap junction_Homo sapiens_hsa045401.48865320
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.45201016
17Central carbon metabolism in cancer_Homo sapiens_hsa052301.43065816
18Vibrio cholerae infection_Homo sapiens_hsa051101.42848805
19Small cell lung cancer_Homo sapiens_hsa052221.39298542
20Bladder cancer_Homo sapiens_hsa052191.38484740
21Adherens junction_Homo sapiens_hsa045201.38437561
22Melanogenesis_Homo sapiens_hsa049161.37354349
23Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.32298956
24Regulation of actin cytoskeleton_Homo sapiens_hsa048101.28324776
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.24840113
26Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.24763628
27Amoebiasis_Homo sapiens_hsa051461.23368743
28Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.20203084
29Estrogen signaling pathway_Homo sapiens_hsa049151.19489208
30Prion diseases_Homo sapiens_hsa050201.17526602
31ErbB signaling pathway_Homo sapiens_hsa040121.16471490
32GnRH signaling pathway_Homo sapiens_hsa049121.15257118
33Neurotrophin signaling pathway_Homo sapiens_hsa047221.14766408
34Chronic myeloid leukemia_Homo sapiens_hsa052201.14579359
35Cocaine addiction_Homo sapiens_hsa050301.11067169
36Gastric acid secretion_Homo sapiens_hsa049711.07258344
37Basal cell carcinoma_Homo sapiens_hsa052171.07170056
38MicroRNAs in cancer_Homo sapiens_hsa052061.05890245
39Amphetamine addiction_Homo sapiens_hsa050311.04166723
40AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.04023644
41Melanoma_Homo sapiens_hsa052181.03723603
42Dopaminergic synapse_Homo sapiens_hsa047281.02467246
43Shigellosis_Homo sapiens_hsa051311.00071927
44VEGF signaling pathway_Homo sapiens_hsa043700.99655467
45Hedgehog signaling pathway_Homo sapiens_hsa043400.99299562
46Nicotine addiction_Homo sapiens_hsa050330.97715454
47Aldosterone synthesis and secretion_Homo sapiens_hsa049250.96973423
48Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.96966353
49Rap1 signaling pathway_Homo sapiens_hsa040150.96511440
50Wnt signaling pathway_Homo sapiens_hsa043100.96465489
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.95678565
52Protein digestion and absorption_Homo sapiens_hsa049740.92997346
53Tight junction_Homo sapiens_hsa045300.91570434
54Cholinergic synapse_Homo sapiens_hsa047250.91445698
55Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90463419
56Thyroid cancer_Homo sapiens_hsa052160.90345029
57Endocytosis_Homo sapiens_hsa041440.89904343
58Endometrial cancer_Homo sapiens_hsa052130.88637926
59Glutamatergic synapse_Homo sapiens_hsa047240.87314083
60GABAergic synapse_Homo sapiens_hsa047270.87244720
61Insulin secretion_Homo sapiens_hsa049110.85951666
62Vitamin B6 metabolism_Homo sapiens_hsa007500.85780207
63Oxytocin signaling pathway_Homo sapiens_hsa049210.85296844
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.84953249
65Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.84722157
66Glycosaminoglycan degradation_Homo sapiens_hsa005310.84515619
67Renal cell carcinoma_Homo sapiens_hsa052110.82813405
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.82642826
69PI3K-Akt signaling pathway_Homo sapiens_hsa041510.82412528
70Oocyte meiosis_Homo sapiens_hsa041140.82354434
71TGF-beta signaling pathway_Homo sapiens_hsa043500.80825963
72Circadian entrainment_Homo sapiens_hsa047130.80808662
73Pancreatic cancer_Homo sapiens_hsa052120.79101467
74Pathways in cancer_Homo sapiens_hsa052000.78157782
75Non-small cell lung cancer_Homo sapiens_hsa052230.77200075
76N-Glycan biosynthesis_Homo sapiens_hsa005100.76951509
77Salmonella infection_Homo sapiens_hsa051320.76950307
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76216227
79Biosynthesis of amino acids_Homo sapiens_hsa012300.74405496
80Salivary secretion_Homo sapiens_hsa049700.73621654
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.72518492
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68511556
83Long-term depression_Homo sapiens_hsa047300.67349588
84mTOR signaling pathway_Homo sapiens_hsa041500.67071398
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.66392390
86MAPK signaling pathway_Homo sapiens_hsa040100.65984423
87Glucagon signaling pathway_Homo sapiens_hsa049220.65765071
88Morphine addiction_Homo sapiens_hsa050320.64808364
89Alcoholism_Homo sapiens_hsa050340.63844576
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.63330319
91Renin secretion_Homo sapiens_hsa049240.62846152
92cAMP signaling pathway_Homo sapiens_hsa040240.62842747
93Inositol phosphate metabolism_Homo sapiens_hsa005620.61576952
94Colorectal cancer_Homo sapiens_hsa052100.61347075
95Thyroid hormone synthesis_Homo sapiens_hsa049180.61053632
96Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.59913636
97Insulin signaling pathway_Homo sapiens_hsa049100.59048666
98Cell cycle_Homo sapiens_hsa041100.58898787
99Ras signaling pathway_Homo sapiens_hsa040140.58288348
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58241621

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