TSPAN9

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: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)4.02804708
2cardiac myofibril assembly (GO:0055003)3.90463615
3regulation of cardioblast differentiation (GO:0051890)3.48208248
4vascular endothelial growth factor signaling pathway (GO:0038084)3.41792614
5basement membrane organization (GO:0071711)3.36579589
6cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.30233070
7cytoskeletal anchoring at plasma membrane (GO:0007016)3.29378465
8sarcomere organization (GO:0045214)3.21701610
9regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.19904420
10regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.19713938
11epithelial cell-cell adhesion (GO:0090136)3.11956593
12cell communication by electrical coupling (GO:0010644)3.05119449
13heart trabecula formation (GO:0060347)3.04045811
14cell migration involved in heart development (GO:0060973)3.00540285
15lymphangiogenesis (GO:0001946)2.99528469
16myofibril assembly (GO:0030239)2.99281616
17negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.98084001
18lymph vessel development (GO:0001945)2.97299161
19cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.94570304
20renal filtration (GO:0097205)2.93938400
21negative regulation of potassium ion transmembrane transport (GO:1901380)2.90571130
22regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.90011214
23cell migration involved in sprouting angiogenesis (GO:0002042)2.87992414
24hemidesmosome assembly (GO:0031581)2.86798595
25endocardial cushion development (GO:0003197)2.86741639
26protein localization to endosome (GO:0036010)2.86373641
27branching involved in salivary gland morphogenesis (GO:0060445)2.85654632
28regulation of the force of heart contraction (GO:0002026)2.85347025
29adherens junction assembly (GO:0034333)2.84623602
30sodium ion export (GO:0071436)2.84514693
31retina vasculature morphogenesis in camera-type eye (GO:0061299)2.84248890
32negative regulation of catenin import into nucleus (GO:0035414)2.82871109
33actomyosin structure organization (GO:0031032)2.81933452
34actin-myosin filament sliding (GO:0033275)2.81573968
35muscle filament sliding (GO:0030049)2.81573968
36regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.81395022
37bundle of His cell to Purkinje myocyte communication (GO:0086069)2.80626124
38cell communication involved in cardiac conduction (GO:0086065)2.78417003
39synaptic vesicle docking involved in exocytosis (GO:0016081)2.76814840
40blood vessel maturation (GO:0001955)2.75956744
41polarized epithelial cell differentiation (GO:0030859)2.75447541
42hippo signaling (GO:0035329)2.74934614
43axon extension involved in axon guidance (GO:0048846)2.73939456
44neuron projection extension involved in neuron projection guidance (GO:1902284)2.73939456
45negative regulation of protein localization to cell surface (GO:2000009)2.72212125
46extracellular fibril organization (GO:0043206)2.71208179
47regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.69581524
48surfactant homeostasis (GO:0043129)2.69264729
49ventricular cardiac muscle cell action potential (GO:0086005)2.69084617
50cell-substrate junction assembly (GO:0007044)2.68539785
51glomerular basement membrane development (GO:0032836)2.67764375
52paraxial mesoderm development (GO:0048339)2.64311861
53neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.64031215
54protein retention in ER lumen (GO:0006621)2.62711198
55metanephric mesenchyme development (GO:0072075)2.62515467
56semaphorin-plexin signaling pathway (GO:0071526)2.59392742
57positive regulation of receptor recycling (GO:0001921)2.59153033
58regulation of tight junction assembly (GO:2000810)2.58783352
59glomerular filtration (GO:0003094)2.58446255
60protein targeting to plasma membrane (GO:0072661)2.55978423
61regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.55782915
62cardiac muscle contraction (GO:0060048)2.54256996
63peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.54240855
64stress fiber assembly (GO:0043149)2.53960835
65desmosome organization (GO:0002934)2.53852903
66peripheral nervous system axon ensheathment (GO:0032292)2.53848715
67myelination in peripheral nervous system (GO:0022011)2.53848715
68actin-mediated cell contraction (GO:0070252)2.53698994
69protein heterotrimerization (GO:0070208)2.52487122
70endothelial cell morphogenesis (GO:0001886)2.52364316
71membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.52354034
72atrioventricular valve morphogenesis (GO:0003181)2.51043361
73insulin-like growth factor receptor signaling pathway (GO:0048009)2.50175124
74trabecula formation (GO:0060343)2.49483579
75negative regulation of fatty acid transport (GO:2000192)2.49480241
76kidney mesenchyme development (GO:0072074)2.48272839
77maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.48123957
78positive regulation of glycogen biosynthetic process (GO:0045725)2.47867377
79response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.45469144
80establishment of nucleus localization (GO:0040023)2.45386993
81cardiac muscle hypertrophy (GO:0003300)2.43467185
82protein carboxylation (GO:0018214)2.43441720
83peptidyl-glutamic acid carboxylation (GO:0017187)2.43441720
84outflow tract septum morphogenesis (GO:0003148)2.42154234
85regulation of p38MAPK cascade (GO:1900744)2.41137895
86regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.40327203
87blood vessel endothelial cell migration (GO:0043534)2.39940644
88negative regulation of chondrocyte differentiation (GO:0032331)2.39760782
89vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.38807445
90embryonic foregut morphogenesis (GO:0048617)2.38493711
91cardiac muscle cell development (GO:0055013)2.37350446
92activation of protein kinase A activity (GO:0034199)2.37013065
93endothelial cell chemotaxis (GO:0035767)2.35610448
94cerebellar granule cell differentiation (GO:0021707)2.35226417
95ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.35031987
96focal adhesion assembly (GO:0048041)2.35011222
97cell-substrate adherens junction assembly (GO:0007045)2.35011222
98negative regulation of complement activation (GO:0045916)2.34976932
99adherens junction organization (GO:0034332)2.34893338
100negative regulation of axon extension involved in axon guidance (GO:0048843)2.34604280
101establishment of apical/basal cell polarity (GO:0035089)2.34287364
102collagen fibril organization (GO:0030199)2.33935933
103skin morphogenesis (GO:0043589)2.33039780
104striated muscle contraction (GO:0006941)2.32906231
105cardiac muscle tissue morphogenesis (GO:0055008)2.32737939
106camera-type eye morphogenesis (GO:0048593)2.31896459
107striated muscle hypertrophy (GO:0014897)2.31338702
108collagen metabolic process (GO:0032963)2.30542347
109gonadal mesoderm development (GO:0007506)2.30336284
110regulation of axon extension involved in axon guidance (GO:0048841)2.29704687
111heart morphogenesis (GO:0003007)2.29514272
112positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.29508707
113G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.29214447
114venous blood vessel morphogenesis (GO:0048845)2.28306472
115substrate adhesion-dependent cell spreading (GO:0034446)2.28110847
116endodermal cell differentiation (GO:0035987)2.27805645
117muscle cell fate commitment (GO:0042693)2.27238059
118negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.26995935
119Golgi transport vesicle coating (GO:0048200)2.26895921
120COPI coating of Golgi vesicle (GO:0048205)2.26895921
121cell adhesion mediated by integrin (GO:0033627)2.26727988
122extracellular matrix assembly (GO:0085029)2.26456568
123cardiac cell development (GO:0055006)2.25963809
124potassium ion import (GO:0010107)2.24882773
125planar cell polarity pathway involved in neural tube closure (GO:0090179)2.24530813
126regulation of hippo signaling (GO:0035330)2.24375428
127regulation of actin filament-based movement (GO:1903115)2.24341239
128regulation of endothelial cell differentiation (GO:0045601)2.23827855
129cardiac muscle cell proliferation (GO:0060038)2.23515676
130establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.22653533
131lung epithelium development (GO:0060428)2.22384898
132neuromuscular junction development (GO:0007528)2.22231261
133actin filament-based movement (GO:0030048)2.21547462
134fibril organization (GO:0097435)2.21416771
135atrial septum morphogenesis (GO:0060413)2.21110051
136regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.20775234
137gap junction assembly (GO:0016264)2.19537489
138regulation of plasminogen activation (GO:0010755)2.18901135
139bone trabecula formation (GO:0060346)2.18818772
140Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.18626831

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human3.44059982
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.31462806
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse2.68384081
4CLOCK_20551151_ChIP-Seq_293T_Human2.48927533
5EP300_21415370_ChIP-Seq_HL-1_Mouse2.42802587
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.38151533
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.37248017
8EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.20666194
9ESR2_21235772_ChIP-Seq_MCF-7_Human2.16761258
10TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.07974534
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.03686592
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.01320959
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.92318907
14MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.90119495
15RNF2_18974828_ChIP-Seq_MESCs_Mouse1.89610263
16EZH2_18974828_ChIP-Seq_MESCs_Mouse1.89610263
17WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.81610473
18TBX20_22328084_ChIP-Seq_HEART_Mouse1.77055014
19TBX20_22080862_ChIP-Seq_HEART_Mouse1.77055014
20ESR1_21235772_ChIP-Seq_MCF-7_Human1.76888060
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.73208622
22EED_16625203_ChIP-ChIP_MESCs_Mouse1.71142678
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.69130593
24SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.67985751
25* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.65298751
26DROSHA_22980978_ChIP-Seq_HELA_Human1.65209281
27ZFP281_18757296_ChIP-ChIP_E14_Mouse1.61152220
28SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.60713224
29* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58280930
30KDM2B_26808549_Chip-Seq_K562_Human1.58060928
31MTF2_20144788_ChIP-Seq_MESCs_Mouse1.55209623
32NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.50950662
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.50600806
34ZNF263_19887448_ChIP-Seq_K562_Human1.48199145
35SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.45976422
36HIF1A_21447827_ChIP-Seq_MCF-7_Human1.45842914
37RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.44671665
38SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.44031593
39LXR_22158963_ChIP-Seq_LIVER_Mouse1.43037391
40THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.41020615
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.40965370
42* NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.40229877
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39675260
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.39211022
45* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37936577
46ISL1_27105846_Chip-Seq_CPCs_Mouse1.36815989
47SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.35520693
48WT1_25993318_ChIP-Seq_PODOCYTE_Human1.33898177
49* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33186941
50CJUN_26792858_Chip-Seq_BT549_Human1.32240062
51EZH2_27294783_Chip-Seq_ESCs_Mouse1.31440478
52TP53_20018659_ChIP-ChIP_R1E_Mouse1.31407336
53GATA2_21666600_ChIP-Seq_HMVEC_Human1.30725842
54RXR_22158963_ChIP-Seq_LIVER_Mouse1.29711009
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.28694964
56STAT6_21828071_ChIP-Seq_BEAS2B_Human1.28657538
57RNF2_27304074_Chip-Seq_ESCs_Mouse1.28515724
58RACK7_27058665_Chip-Seq_MCF-7_Human1.27166058
59SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.26998255
60TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26731684
61DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.26471806
62SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.26403850
63ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.25137533
64PPAR_26484153_Chip-Seq_NCI-H1993_Human1.24698638
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.24464567
66CTCF_27219007_Chip-Seq_Bcells_Human1.22243371
67EZH2_27304074_Chip-Seq_ESCs_Mouse1.20189730
68FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.19746607
69P300_27058665_Chip-Seq_ZR-75-30cells_Human1.19579986
70ZFP281_27345836_Chip-Seq_ESCs_Mouse1.18238345
71LXR_22292898_ChIP-Seq_THP-1_Human1.17187792
72JARID2_20064375_ChIP-Seq_MESCs_Mouse1.15507909
73* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.14849827
74* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.14422273
75PPARA_22158963_ChIP-Seq_LIVER_Mouse1.14297284
76FOXO3_23340844_ChIP-Seq_DLD1_Human1.14028420
77AHR_22903824_ChIP-Seq_MCF-7_Human1.13947884
78PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13878234
79* TET1_21490601_ChIP-Seq_MESCs_Mouse1.13826840
80FOXA2_19822575_ChIP-Seq_HepG2_Human1.12410846
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.11514940
82POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.09569563
83EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.09563807
84OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.07859843
85SUZ12_27294783_Chip-Seq_ESCs_Mouse1.07395115
86WT1_19549856_ChIP-ChIP_CCG9911_Human1.06304524
87UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.05291137
88TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05185507
89* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05112578
90ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.03622798
91* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.03446570
92* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03000420
93* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.02788448
94CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.02633314
95ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.02543065
96ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01918097
97ARNT_22903824_ChIP-Seq_MCF-7_Human1.01284186
98KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.00711873
99DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00396231
100SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99961353
101TP53_16413492_ChIP-PET_HCT116_Human0.99726799
102RARB_27405468_Chip-Seq_BRAIN_Mouse0.98925643
103RING1B_27294783_Chip-Seq_ESCs_Mouse0.98907954
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.98734779
105PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.98170046
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.97757672
107SMC4_20622854_ChIP-Seq_HELA_Human0.97373255
108MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.96362711
109NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96263741
110NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96263741
111* TP53_23651856_ChIP-Seq_MEFs_Mouse0.96198761
112* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.95882785
113SMAD3_21741376_ChIP-Seq_HESCs_Human0.94306501
114KDM2B_26808549_Chip-Seq_JURKAT_Human0.93768064
115* KDM2B_26808549_Chip-Seq_DND41_Human0.93196047
116* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.92435710
117RUNX1_27514584_Chip-Seq_MCF-7_Human0.92155810
118ATF3_27146783_Chip-Seq_COLON_Human0.91194413
119CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.90697208

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003705_abnormal_hypodermis_morpholog3.73148583
2MP0008438_abnormal_cutaneous_collagen3.51120461
3MP0004272_abnormal_basement_membrane3.48820647
4MP0004084_abnormal_cardiac_muscle3.41092009
5MP0010368_abnormal_lymphatic_system3.36048279
6MP0005623_abnormal_meninges_morphology2.80925431
7MP0005275_abnormal_skin_tensile2.53621162
8MP0000751_myopathy2.48592693
9MP0001958_emphysema2.41520800
10MP0002837_dystrophic_cardiac_calcinosis2.26180145
11MP0004036_abnormal_muscle_relaxation2.21925061
12MP0001879_abnormal_lymphatic_vessel2.19624085
13MP0003279_aneurysm2.11406355
14MP0006138_congestive_heart_failure2.07254141
15MP0005257_abnormal_intraocular_pressure2.07095129
16MP0004215_abnormal_myocardial_fiber1.99548759
17MP0005503_abnormal_tendon_morphology1.99423282
18MP0000749_muscle_degeneration1.95043534
19MP0003566_abnormal_cell_adhesion1.89113284
20MP0005330_cardiomyopathy1.85734343
21MP0005409_darkened_coat_color1.85710085
22MP0000537_abnormal_urethra_morphology1.84571571
23MP0003950_abnormal_plasma_membrane1.82068503
24MP0004145_abnormal_muscle_electrophysio1.75775587
25MP0004087_abnormal_muscle_fiber1.71707157
26MP0006054_spinal_hemorrhage1.68195991
27MP0009384_cardiac_valve_regurgitation1.66183422
28MP0004510_myositis1.63530304
29MP0002972_abnormal_cardiac_muscle1.61799157
30MP0005167_abnormal_blood-brain_barrier1.60632239
31MP0000013_abnormal_adipose_tissue1.59122479
32MP0008775_abnormal_heart_ventricle1.52653538
33MP0010630_abnormal_cardiac_muscle1.52289326
34MP0009780_abnormal_chondrocyte_physiolo1.49370411
35MP0003385_abnormal_body_wall1.47492184
36MP0010030_abnormal_orbit_morphology1.47256594
37MP0005670_abnormal_white_adipose1.46129592
38MP0000733_abnormal_muscle_development1.44738244
39MP0005385_cardiovascular_system_phenoty1.44716455
40MP0001544_abnormal_cardiovascular_syste1.44716455
41MP0000750_abnormal_muscle_regeneration1.43635619
42MP0005620_abnormal_muscle_contractility1.40732268
43MP0004859_abnormal_synaptic_plasticity1.40401890
44MP0000767_abnormal_smooth_muscle1.33185951
45MP0000534_abnormal_ureter_morphology1.32511661
46MP0003137_abnormal_impulse_conducting1.30991109
47MP0003122_maternal_imprinting1.27572197
48MP0003828_pulmonary_edema1.25760380
49MP0004233_abnormal_muscle_weight1.24604809
50MP0002108_abnormal_muscle_morphology1.22609907
51MP0003115_abnormal_respiratory_system1.21368534
52MP0000747_muscle_weakness1.20676935
53MP0002269_muscular_atrophy1.20231232
54MP0003091_abnormal_cell_migration1.18453191
55MP0002295_abnormal_pulmonary_circulatio1.15959284
56MP0004085_abnormal_heartbeat1.15831392
57MP0003567_abnormal_fetal_cardiomyocyte1.14252275
58MP0003283_abnormal_digestive_organ1.13689410
59MP0001348_abnormal_lacrimal_gland1.10066528
60MP0003942_abnormal_urinary_system1.08421998
61MP0002106_abnormal_muscle_physiology1.08306791
62MP0004484_altered_response_of1.08012475
63MP0004270_analgesia1.07600919
64MP0002234_abnormal_pharynx_morphology1.07271676
65MP0000759_abnormal_skeletal_muscle1.07222330
66MP0005369_muscle_phenotype1.06575654
67MP0002127_abnormal_cardiovascular_syste1.06316344
68MP0002128_abnormal_blood_circulation1.05550831
69MP0003879_abnormal_hair_cell1.04960788
70MP0005023_abnormal_wound_healing1.03388969
71MP0002089_abnormal_postnatal_growth/wei1.03149769
72MP0004858_abnormal_nervous_system1.01164809
73MP0002925_abnormal_cardiovascular_devel1.00943826
74MP0005508_abnormal_skeleton_morphology0.98916326
75MP0001299_abnormal_eye_distance/0.97226775
76MP0000003_abnormal_adipose_tissue0.97207657
77MP0003941_abnormal_skin_development0.96460226
78MP0009053_abnormal_anal_canal0.93089101
79MP0002896_abnormal_bone_mineralization0.92051957
80MP0005595_abnormal_vascular_smooth0.91873777
81MP0000266_abnormal_heart_morphology0.91236603
82MP0005187_abnormal_penis_morphology0.90221785
83MP0003329_amyloid_beta_deposits0.88904629
84MP0001614_abnormal_blood_vessel0.88664026
85MP0008569_lethality_at_weaning0.83644007
86MP0000428_abnormal_craniofacial_morphol0.83498056
87MP0000462_abnormal_digestive_system0.82776575
88MP0003935_abnormal_craniofacial_develop0.81702950
89MP0004885_abnormal_endolymph0.81475796
90MP0001661_extended_life_span0.81129647
91MP0002796_impaired_skin_barrier0.80990781
92MP0002060_abnormal_skin_morphology0.80647725
93MP0005360_urolithiasis0.79276294
94MP0004130_abnormal_muscle_cell0.75662121
95MP0000467_abnormal_esophagus_morphology0.74525839
96MP0005058_abnormal_lysosome_morphology0.73756503
97MP0005375_adipose_tissue_phenotype0.73506330
98MP0001849_ear_inflammation0.72660894
99MP0005388_respiratory_system_phenotype0.72171135
100MP0002133_abnormal_respiratory_system0.72171135
101MP0003045_fibrosis0.71381569
102MP0005083_abnormal_biliary_tract0.70934316
103MP0009250_abnormal_appendicular_skeleto0.70834612
104MP0000566_synostosis0.70757128
105MP0000762_abnormal_tongue_morphology0.70321530
106MP0001915_intracranial_hemorrhage0.69496254
107MP0001784_abnormal_fluid_regulation0.69439396
108MP0002249_abnormal_larynx_morphology0.69429114
109MP0000579_abnormal_nail_morphology0.68790721
110MP0005666_abnormal_adipose_tissue0.68368321
111MP0002877_abnormal_melanocyte_morpholog0.67676878
112MP0003634_abnormal_glial_cell0.67007347
113MP0005165_increased_susceptibility_to0.66993435
114MP0002168_other_aberrant_phenotype0.65281831
115MP0002932_abnormal_joint_morphology0.64920244
116MP0010234_abnormal_vibrissa_follicle0.64649798
117MP0001542_abnormal_bone_strength0.64564741

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)4.12936594
2Protrusio acetabuli (HP:0003179)4.04906207
3Broad metatarsal (HP:0001783)4.00609922
4Right ventricular cardiomyopathy (HP:0011663)3.85402996
5Shallow orbits (HP:0000586)3.84738140
6Sudden death (HP:0001699)3.61679190
7Hyporeflexia of lower limbs (HP:0002600)3.44065237
8Cerebral aneurysm (HP:0004944)3.40535837
9Muscle fiber splitting (HP:0003555)3.26043895
10Ankle contracture (HP:0006466)3.18300817
11Type 1 muscle fiber predominance (HP:0003803)3.12181552
12Increased connective tissue (HP:0009025)2.96292854
13Ventricular tachycardia (HP:0004756)2.74601953
14Distal lower limb muscle weakness (HP:0009053)2.70527058
15Abnormality of the calf musculature (HP:0001430)2.69464244
16Increased variability in muscle fiber diameter (HP:0003557)2.67537938
17Lymphangioma (HP:0100764)2.67289886
18Aortic aneurysm (HP:0004942)2.65830766
19Exercise-induced muscle cramps (HP:0003710)2.64338737
20Aortic dissection (HP:0002647)2.64104751
21Atrophic scars (HP:0001075)2.60223731
22Difficulty running (HP:0009046)2.56480728
23Mildly elevated creatine phosphokinase (HP:0008180)2.52412958
24Cervical subluxation (HP:0003308)2.48852626
25Spinal rigidity (HP:0003306)2.48012184
26Atrial fibrillation (HP:0005110)2.45899382
27Deep venous thrombosis (HP:0002625)2.43803867
28Vertebral compression fractures (HP:0002953)2.43575245
29Heart block (HP:0012722)2.43144871
30Bladder diverticulum (HP:0000015)2.41210329
31Scapular winging (HP:0003691)2.36801915
32Obstructive sleep apnea (HP:0002870)2.34887239
33Abnormality of skeletal muscle fiber size (HP:0012084)2.32684991
34Aneurysm (HP:0002617)2.32485981
35Primary atrial arrhythmia (HP:0001692)2.27725408
36Exercise-induced myalgia (HP:0003738)2.27269781
37EMG: myopathic abnormalities (HP:0003458)2.27191818
38Bronchomalacia (HP:0002780)2.21873835
39Supraventricular arrhythmia (HP:0005115)2.21725023
40Distal upper limb amyotrophy (HP:0007149)2.20516058
41Upper limb amyotrophy (HP:0009129)2.20516058
42Difficulty climbing stairs (HP:0003551)2.20247060
43Lipoatrophy (HP:0100578)2.16120003
44Fragile skin (HP:0001030)2.15479253
45Round ear (HP:0100830)2.15071932
46Overgrowth (HP:0001548)2.12962736
47Mitral valve prolapse (HP:0001634)2.11827572
48Supraventricular tachycardia (HP:0004755)2.08782491
49Coronal craniosynostosis (HP:0004440)2.08411221
50Ventricular fibrillation (HP:0001663)2.06266764
51Action tremor (HP:0002345)2.05369926
52Distal lower limb amyotrophy (HP:0008944)2.01732090
53Visceral angiomatosis (HP:0100761)2.01197926
54Centrally nucleated skeletal muscle fibers (HP:0003687)2.00862162
55Prolonged QT interval (HP:0001657)2.00454490
56Mitral stenosis (HP:0001718)1.99132367
57Thin ribs (HP:0000883)1.98535826
58Polycythemia (HP:0001901)1.98307310
59Myotonia (HP:0002486)1.97560955
60Ventricular arrhythmia (HP:0004308)1.96373169
61Achilles tendon contracture (HP:0001771)1.95907349
62Bowel diverticulosis (HP:0005222)1.95773875
63Hemiplegia (HP:0002301)1.94276041
64Hip contracture (HP:0003273)1.93087590
65Abnormal delivery (HP:0001787)1.92975374
66Peritonitis (HP:0002586)1.92511750
67Blue sclerae (HP:0000592)1.92375600
68Biconcave vertebral bodies (HP:0004586)1.92347730
69Turricephaly (HP:0000262)1.90283455
70Abnormality of dentin (HP:0010299)1.90063939
71Syncope (HP:0001279)1.89746042
72Abnormality of the Achilles tendon (HP:0005109)1.89521803
73Short hallux (HP:0010109)1.89516849
74Follicular hyperkeratosis (HP:0007502)1.88818260
75Subaortic stenosis (HP:0001682)1.88157074
76Abnormality of the left ventricular outflow tract (HP:0011103)1.88157074
77Genu recurvatum (HP:0002816)1.88105349
78Vascular tortuosity (HP:0004948)1.87822845
79Calf muscle hypertrophy (HP:0008981)1.86781231
80Hemangiomatosis (HP:0007461)1.86600869
81Calcaneovalgus deformity (HP:0001848)1.86440486
82Thin bony cortex (HP:0002753)1.85439293
83Infantile muscular hypotonia (HP:0008947)1.85149334
84Pterygium (HP:0001059)1.83924178
85Dysmetric saccades (HP:0000641)1.83918704
86Mitral regurgitation (HP:0001653)1.83380089
87Aplasia/Hypoplasia of the hallux (HP:0008362)1.83307179
88Joint laxity (HP:0001388)1.83191644
89Asymmetric septal hypertrophy (HP:0001670)1.83164481
90Dilatation of the ascending aorta (HP:0005111)1.81648935
91Lower limb amyotrophy (HP:0007210)1.81148491
92Generalized amyotrophy (HP:0003700)1.80504835
93Hyperacusis (HP:0010780)1.79776566
94Bundle branch block (HP:0011710)1.78915979
95Wide anterior fontanel (HP:0000260)1.77903632
96Complement deficiency (HP:0004431)1.77400799
97Abnormality of complement system (HP:0005339)1.75793450
98Hyperextensible skin (HP:0000974)1.75149631
99Short 4th metacarpal (HP:0010044)1.73675591
100Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.73675591
101Ectopia lentis (HP:0001083)1.73351809
102Limited hip movement (HP:0008800)1.73101568
103Aplasia of the musculature (HP:0100854)1.72796956
104Buphthalmos (HP:0000557)1.72347085
105Disproportionate tall stature (HP:0001519)1.72088822
106Aplasia involving bones of the extremities (HP:0009825)1.72035501
107Aplasia involving bones of the upper limbs (HP:0009823)1.72035501
108Aplasia of the phalanges of the hand (HP:0009802)1.72035501
109Arterial tortuosity (HP:0005116)1.71642402
110Distal arthrogryposis (HP:0005684)1.71472072
111Hypoventilation (HP:0002791)1.71205022
112Camptodactyly of toe (HP:0001836)1.70971672
113Venous abnormality (HP:0002624)1.70535084
114Soft skin (HP:0000977)1.69389646
115Dilated cardiomyopathy (HP:0001644)1.67426103
116Long toe (HP:0010511)1.66924683
117Mesangial abnormality (HP:0001966)1.66448978
118Slender build (HP:0001533)1.65363465
119Menorrhagia (HP:0000132)1.65287409
120Enlarged penis (HP:0000040)1.65227583
121Skin nodule (HP:0200036)1.65013936
122Muscle hypertrophy of the lower extremities (HP:0008968)1.64627616
123Back pain (HP:0003418)1.64193916
124Wrist flexion contracture (HP:0001239)1.63543798
125Neonatal short-limb short stature (HP:0008921)1.62788623
126Wormian bones (HP:0002645)1.62134723
127Atrioventricular block (HP:0001678)1.61440020
128Hypoplastic heart (HP:0001961)1.60186308
129Hand muscle atrophy (HP:0009130)1.60017830
130Cardiovascular calcification (HP:0011915)1.59591040
131Ulnar bowing (HP:0003031)1.58464183
132Abnormal atrioventricular conduction (HP:0005150)1.58297239
133Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.58119357
134Hypoplastic left heart (HP:0004383)1.57722421
135Focal segmental glomerulosclerosis (HP:0000097)1.57388657

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB33.81347308
2TIE13.81026088
3RIPK12.95978628
4TTN2.94740303
5PKN22.76825733
6PDGFRA2.57110138
7EPHB22.35087681
8PTK62.23848175
9LATS12.20205924
10LATS22.01213529
11KDR1.88849657
12DMPK1.78817289
13DDR21.76357429
14EPHB11.72549046
15FER1.63798023
16PTK21.61719011
17LMTK21.59307229
18TGFBR21.58551043
19MYLK1.57890899
20SIK11.46019094
21MET1.44027065
22PRKD31.41799662
23ERN11.41085666
24STK38L1.39637271
25PRPF4B1.36137682
26FGFR21.36082750
27PHKG21.31969685
28PHKG11.31969685
29SMG11.28112818
30PAK41.26749887
31WNK11.26589497
32PAK31.25413990
33TYRO31.24521045
34NTRK11.21716912
35ROCK21.19430063
36BMX1.16318281
37MUSK1.16118418
38FGFR11.14488998
39WNK41.12980601
40OBSCN1.11635726
41ARAF1.10839039
42ILK1.09961135
43ROCK11.09780385
44PTK2B1.08742161
45PAK61.07026227
46PRKD11.06127914
47LRRK21.04491200
48STK391.04174316
49EPHA21.03933408
50MARK11.01409589
51RET1.00876208
52MAP3K61.00703941
53ICK1.00324942
54MARK20.97778841
55MOS0.96788695
56STK380.96438714
57RPS6KA20.96288128
58KSR20.95521705
59NTRK30.91568567
60PDGFRB0.91509106
61PAK20.91319389
62CDK120.89479430
63CDC42BPA0.89429338
64NEK10.87605581
65CAMKK10.85843879
66MAP3K90.79421707
67PRKD20.79215068
68MTOR0.78748084
69PRKCH0.78462190
70LIMK10.77207342
71TGFBR10.74224239
72MAP2K10.68811271
73STK240.66616411
74GRK50.65291271
75KSR10.65047688
76MAP3K70.63480064
77TRPM70.61792982
78INSRR0.61195501
79CAMK10.59986438
80MAPK70.59481550
81AKT30.58892155
82SGK4940.58603994
83SGK2230.58603994
84FGFR30.58111620
85ERBB20.57769305
86PIK3CA0.56906201
87EEF2K0.56396416
88RPS6KC10.56069029
89RPS6KL10.56069029
90NTRK20.55261736
91CAMKK20.55069473
92MAP3K100.53229169
93MAPK120.52521218
94DAPK30.51708401
95FGFR40.51265955
96UHMK10.50721438
97STK30.50450140
98CAMK2B0.50377280
99OXSR10.48917002
100TESK10.47909286
101MAP3K30.47753946
102SRC0.47637048
103CDK150.47622572
104PDK20.45749266
105GSK3A0.45685812
106CAMK2D0.44965979
107SGK30.44500373
108PDPK10.44484322
109PIK3CG0.43983692
110DYRK1B0.43762017
111BCR0.42996427
112CAMK40.42871447
113MINK10.42239351
114EPHA30.42193746
115PRKAA10.41966599
116CDK11A0.41959776
117CDK180.41221096
118PRKG20.40958281
119FLT30.40778891
120AKT20.40740141
121NEK90.40404083
122PDK30.40203117
123PDK40.40203117
124MAP2K30.38831040
125MAPKAPK30.37880562
126MST1R0.37500884
127BCKDK0.37147780
128PKN10.36961182
129CAMK2G0.36666076
130PINK10.36004626

Predicted pathways (KEGG)

RankGene SetZ-score
1Dilated cardiomyopathy_Homo sapiens_hsa054142.47005674
2ECM-receptor interaction_Homo sapiens_hsa045122.27275654
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.23276640
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.21409550
5Nitrogen metabolism_Homo sapiens_hsa009102.01449101
6Focal adhesion_Homo sapiens_hsa045101.99392968
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.78986925
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.65808508
9Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.57784131
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.55998703
11Proteoglycans in cancer_Homo sapiens_hsa052051.53739423
12Tight junction_Homo sapiens_hsa045301.53634869
13Prion diseases_Homo sapiens_hsa050201.52555677
14Adherens junction_Homo sapiens_hsa045201.46197170
15Hippo signaling pathway_Homo sapiens_hsa043901.43910209
16Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39366205
17Fatty acid degradation_Homo sapiens_hsa000711.39062071
18Bile secretion_Homo sapiens_hsa049761.38074642
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.35586768
20Fatty acid metabolism_Homo sapiens_hsa012121.34263676
21Basal cell carcinoma_Homo sapiens_hsa052171.32762949
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.29456863
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.26855979
24Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.23907436
25Arginine biosynthesis_Homo sapiens_hsa002201.22465376
26Cardiac muscle contraction_Homo sapiens_hsa042601.21484126
27Phenylalanine metabolism_Homo sapiens_hsa003601.21290453
28Amoebiasis_Homo sapiens_hsa051461.19313822
29Axon guidance_Homo sapiens_hsa043601.18416657
30Hedgehog signaling pathway_Homo sapiens_hsa043401.16375438
31Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.14292074
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.10665632
33Gap junction_Homo sapiens_hsa045401.06821329
34Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03443443
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.00090681
36Propanoate metabolism_Homo sapiens_hsa006400.99836635
37Protein digestion and absorption_Homo sapiens_hsa049740.98902823
38Melanogenesis_Homo sapiens_hsa049160.98466538
39cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98240204
40Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.96936151
41Butanoate metabolism_Homo sapiens_hsa006500.95661725
42Renal cell carcinoma_Homo sapiens_hsa052110.95435214
43PPAR signaling pathway_Homo sapiens_hsa033200.94838208
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94355677
45Gastric acid secretion_Homo sapiens_hsa049710.93935211
46Estrogen signaling pathway_Homo sapiens_hsa049150.93833262
47Bladder cancer_Homo sapiens_hsa052190.91071423
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.90833526
49Rap1 signaling pathway_Homo sapiens_hsa040150.87492272
50Aldosterone synthesis and secretion_Homo sapiens_hsa049250.85981419
51Thyroid hormone synthesis_Homo sapiens_hsa049180.84820205
52Tryptophan metabolism_Homo sapiens_hsa003800.84231812
53Long-term depression_Homo sapiens_hsa047300.84003360
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.83668409
55TGF-beta signaling pathway_Homo sapiens_hsa043500.83368339
56Circadian entrainment_Homo sapiens_hsa047130.81365195
57Fatty acid elongation_Homo sapiens_hsa000620.81332999
58AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80846205
59Lysine degradation_Homo sapiens_hsa003100.80778939
60Small cell lung cancer_Homo sapiens_hsa052220.80514838
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.80506654
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.79078729
63Complement and coagulation cascades_Homo sapiens_hsa046100.79074676
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.78883716
65Salivary secretion_Homo sapiens_hsa049700.78721350
66Tyrosine metabolism_Homo sapiens_hsa003500.78233651
67Carbon metabolism_Homo sapiens_hsa012000.77921840
68Oxytocin signaling pathway_Homo sapiens_hsa049210.77678668
69Regulation of actin cytoskeleton_Homo sapiens_hsa048100.77358388
70Ovarian steroidogenesis_Homo sapiens_hsa049130.76394520
71Endometrial cancer_Homo sapiens_hsa052130.76385569
72Glioma_Homo sapiens_hsa052140.75999810
73Synaptic vesicle cycle_Homo sapiens_hsa047210.75872164
74Glutamatergic synapse_Homo sapiens_hsa047240.74524068
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74487773
76Insulin secretion_Homo sapiens_hsa049110.74375842
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.74326790
78Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73921805
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.73850395
80Insulin resistance_Homo sapiens_hsa049310.73228594
81Chronic myeloid leukemia_Homo sapiens_hsa052200.73070033
82GnRH signaling pathway_Homo sapiens_hsa049120.73022256
83PI3K-Akt signaling pathway_Homo sapiens_hsa041510.71779382
84Dorso-ventral axis formation_Homo sapiens_hsa043200.71093096
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.70810325
86Primary bile acid biosynthesis_Homo sapiens_hsa001200.69795238
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.69298360
88Cocaine addiction_Homo sapiens_hsa050300.68540955
89Histidine metabolism_Homo sapiens_hsa003400.67336313
90Fatty acid biosynthesis_Homo sapiens_hsa000610.67082798
91Long-term potentiation_Homo sapiens_hsa047200.65657056
92GABAergic synapse_Homo sapiens_hsa047270.65613010
93Renin secretion_Homo sapiens_hsa049240.63690783
94Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62903163
95Amphetamine addiction_Homo sapiens_hsa050310.62608749
96cAMP signaling pathway_Homo sapiens_hsa040240.62527853
97VEGF signaling pathway_Homo sapiens_hsa043700.62521843
98Calcium signaling pathway_Homo sapiens_hsa040200.62488185
99Platelet activation_Homo sapiens_hsa046110.62209808
100Biosynthesis of amino acids_Homo sapiens_hsa012300.61479758
101MicroRNAs in cancer_Homo sapiens_hsa052060.61442806
102AMPK signaling pathway_Homo sapiens_hsa041520.61178835
103Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58942313
104Notch signaling pathway_Homo sapiens_hsa043300.58271996
105mTOR signaling pathway_Homo sapiens_hsa041500.57913196
106Pathways in cancer_Homo sapiens_hsa052000.57889183
107Glucagon signaling pathway_Homo sapiens_hsa049220.57330860
108Thyroid cancer_Homo sapiens_hsa052160.57291567
109Cholinergic synapse_Homo sapiens_hsa047250.57154906
110ErbB signaling pathway_Homo sapiens_hsa040120.56592772
111Viral myocarditis_Homo sapiens_hsa054160.56139098
112Arginine and proline metabolism_Homo sapiens_hsa003300.54873737
113Type II diabetes mellitus_Homo sapiens_hsa049300.53855301
114Pyruvate metabolism_Homo sapiens_hsa006200.53566046
115Melanoma_Homo sapiens_hsa052180.53520017
116Adipocytokine signaling pathway_Homo sapiens_hsa049200.53444650
117Neurotrophin signaling pathway_Homo sapiens_hsa047220.53333304
118Wnt signaling pathway_Homo sapiens_hsa043100.53236480
119Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52877982
120Insulin signaling pathway_Homo sapiens_hsa049100.52871445
121Other glycan degradation_Homo sapiens_hsa005110.52509535
122Galactose metabolism_Homo sapiens_hsa000520.51592040
123Pentose phosphate pathway_Homo sapiens_hsa000300.51552404
124Endocytosis_Homo sapiens_hsa041440.51531667
125Pancreatic cancer_Homo sapiens_hsa052120.51447313

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