FAT4

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 protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon extension involved in axon guidance (GO:0048846)5.25188067
2neuron projection extension involved in neuron projection guidance (GO:1902284)5.25188067
3bone trabecula formation (GO:0060346)4.87287928
4sequestering of extracellular ligand from receptor (GO:0035581)4.72577484
5planar cell polarity pathway involved in neural tube closure (GO:0090179)4.57745856
6negative regulation of axon extension involved in axon guidance (GO:0048843)4.45341749
7regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.44778109
8chondrocyte proliferation (GO:0035988)4.43088730
9lateral sprouting from an epithelium (GO:0060601)4.26758656
10negative regulation of axon guidance (GO:1902668)4.09298786
11chondrocyte development (GO:0002063)4.08906505
12metanephric mesenchyme development (GO:0072075)4.06393683
13insulin-like growth factor receptor signaling pathway (GO:0048009)4.04088135
14collagen fibril organization (GO:0030199)3.99914950
15regulation of axon extension involved in axon guidance (GO:0048841)3.99829779
16regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.97619251
17craniofacial suture morphogenesis (GO:0097094)3.92663316
18head development (GO:0060322)3.83551529
19G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.81920516
20regulation of axon guidance (GO:1902667)3.81862211
21kidney mesenchyme development (GO:0072074)3.79618715
22axonal fasciculation (GO:0007413)3.74763439
23negative regulation of catenin import into nucleus (GO:0035414)3.74070118
24lymphangiogenesis (GO:0001946)3.72240494
25glomerular filtration (GO:0003094)3.69666458
26embryonic cranial skeleton morphogenesis (GO:0048701)3.61801587
27midgut development (GO:0007494)3.50640074
28cell proliferation involved in metanephros development (GO:0072203)3.48345152
29negative chemotaxis (GO:0050919)3.44103448
30outer ear morphogenesis (GO:0042473)3.43904164
31camera-type eye morphogenesis (GO:0048593)3.42881295
32positive regulation of mesenchymal cell proliferation (GO:0002053)3.40334784
33protein heterotrimerization (GO:0070208)3.39234050
34body morphogenesis (GO:0010171)3.36759521
35negative regulation of chondrocyte differentiation (GO:0032331)3.35252485
36blood vessel maturation (GO:0001955)3.32999883
37mesenchymal-epithelial cell signaling (GO:0060638)3.32490442
38middle ear morphogenesis (GO:0042474)3.32338281
39cell migration involved in heart development (GO:0060973)3.31355633
40* hippo signaling (GO:0035329)3.30864848
41regulation of mesenchymal cell proliferation (GO:0010464)3.30060023
42Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.29741414
43regulation of establishment of planar polarity (GO:0090175)3.27413413
44regulation of non-canonical Wnt signaling pathway (GO:2000050)3.27156383
45renal filtration (GO:0097205)3.24830017
46regulation of catenin import into nucleus (GO:0035412)3.19846394
47convergent extension (GO:0060026)3.16917783
48dermatan sulfate biosynthetic process (GO:0030208)3.16002227
49central nervous system projection neuron axonogenesis (GO:0021952)3.14790307
50presynaptic membrane assembly (GO:0097105)3.12394172
51negative regulation of embryonic development (GO:0045992)3.09629369
52positive regulation of catenin import into nucleus (GO:0035413)3.09578778
53embryonic body morphogenesis (GO:0010172)3.06996518
54polarized epithelial cell differentiation (GO:0030859)2.99584235
55hindlimb morphogenesis (GO:0035137)2.98224290
56regulation of cardiac muscle cell differentiation (GO:2000725)2.97361947
57retina vasculature morphogenesis in camera-type eye (GO:0061299)2.94755874
58embryonic hindlimb morphogenesis (GO:0035116)2.94646739
59establishment of nucleus localization (GO:0040023)2.92211709
60extracellular negative regulation of signal transduction (GO:1900116)2.90360084
61extracellular regulation of signal transduction (GO:1900115)2.90360084
62cochlea morphogenesis (GO:0090103)2.90305834
63regulation of heart morphogenesis (GO:2000826)2.90269124
64gastrulation with mouth forming second (GO:0001702)2.90094873
65mesenchymal cell proliferation (GO:0010463)2.89775419
66cranial suture morphogenesis (GO:0060363)2.89159596
67artery development (GO:0060840)2.88744298
68regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.88246094
69presynaptic membrane organization (GO:0097090)2.86971831
70central nervous system neuron axonogenesis (GO:0021955)2.86390704
71vascular endothelial growth factor signaling pathway (GO:0038084)2.85894448
72neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.85373669
73mitotic sister chromatid cohesion (GO:0007064)2.85041200
74extracellular fibril organization (GO:0043206)2.85040720
75cartilage morphogenesis (GO:0060536)2.83029305
76non-canonical Wnt signaling pathway (GO:0035567)2.82929625
77cell proliferation involved in kidney development (GO:0072111)2.82826642
78dermatan sulfate metabolic process (GO:0030205)2.82548021
79embryonic forelimb morphogenesis (GO:0035115)2.79068401
80positive regulation of cardiac muscle cell differentiation (GO:2000727)2.77202821
81paraxial mesoderm development (GO:0048339)2.76508707
82plasma membrane repair (GO:0001778)2.75444908
83mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.74373165
84negative regulation of keratinocyte proliferation (GO:0010839)2.73205842
85axon extension (GO:0048675)2.71900643
86limb bud formation (GO:0060174)2.71707680
87negative regulation of cartilage development (GO:0061037)2.71444099
88regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.70937140
89regulation of chondrocyte differentiation (GO:0032330)2.68546931
90mesenchyme development (GO:0060485)2.68538417
91cerebral cortex radially oriented cell migration (GO:0021799)2.67952470
92embryonic skeletal joint morphogenesis (GO:0060272)2.66287719
93endocardial cushion development (GO:0003197)2.66241462
94palate development (GO:0060021)2.66189995
95collagen metabolic process (GO:0032963)2.66133032
96neuron recognition (GO:0008038)2.65480959
97peripheral nervous system axon ensheathment (GO:0032292)2.64617341
98myelination in peripheral nervous system (GO:0022011)2.64617341
99mesenchyme morphogenesis (GO:0072132)2.64186410
100* heart morphogenesis (GO:0003007)2.63449965
101regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.63203286
102collagen catabolic process (GO:0030574)2.62228236
103negative regulation of DNA repair (GO:0045738)2.61571270
104nucleus localization (GO:0051647)2.60559862
105smooth muscle tissue development (GO:0048745)2.60459224
106cardiac myofibril assembly (GO:0055003)2.59677703
107glucocorticoid receptor signaling pathway (GO:0042921)2.59671482
108appendage morphogenesis (GO:0035107)2.59626209
109limb morphogenesis (GO:0035108)2.59626209
110cell migration involved in sprouting angiogenesis (GO:0002042)2.59612607
111dorsal/ventral axis specification (GO:0009950)2.59350262
112prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.58546177
113positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.57322037
114glial cell migration (GO:0008347)2.56904176
115forelimb morphogenesis (GO:0035136)2.56167940
116embryonic limb morphogenesis (GO:0030326)2.56012581
117embryonic appendage morphogenesis (GO:0035113)2.56012581
118positive regulation of smoothened signaling pathway (GO:0045880)2.55964097
119fibroblast migration (GO:0010761)2.54636969
120anatomical structure regression (GO:0060033)2.54213160
121positive regulation of chondrocyte differentiation (GO:0032332)2.54162512
122proximal/distal pattern formation (GO:0009954)2.54049369
123negative regulation of fatty acid transport (GO:2000192)2.53515248
124limb development (GO:0060173)2.53375858
125appendage development (GO:0048736)2.53375858
126regulation of cardiac muscle hypertrophy (GO:0010611)2.52945360
127multicellular organismal macromolecule metabolic process (GO:0044259)2.52688287
128ganglion development (GO:0061548)2.52440560
129positive regulation of epithelial to mesenchymal transition (GO:0010718)2.52137706
130extracellular matrix assembly (GO:0085029)2.48491913
131cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.46681192
132positive regulation of cartilage development (GO:0061036)2.45541373
133embryonic foregut morphogenesis (GO:0048617)2.45290496
134pericardium development (GO:0060039)2.44522323
135retinal ganglion cell axon guidance (GO:0031290)2.44459002
136regulation of muscle hypertrophy (GO:0014743)2.44405860
137cranial nerve morphogenesis (GO:0021602)2.39832105
138wound healing, spreading of epidermal cells (GO:0035313)2.38879020
139multicellular organismal metabolic process (GO:0044236)2.38691123
140mesenchymal cell differentiation (GO:0048762)2.38548706
141multicellular organismal catabolic process (GO:0044243)2.38320246
142myoblast fusion (GO:0007520)2.38163960
143protein localization to cell surface (GO:0034394)2.37915614
144glomerular basement membrane development (GO:0032836)2.36317489
145substrate-dependent cell migration (GO:0006929)2.36057000
146membrane assembly (GO:0071709)2.32185551
147glomerulus development (GO:0032835)2.32141056
148lymph vessel development (GO:0001945)2.31237813
149endodermal cell differentiation (GO:0035987)2.29647319
150neuron projection extension (GO:1990138)2.28550925
151cerebral cortex cell migration (GO:0021795)2.27881995
152morphogenesis of an epithelial sheet (GO:0002011)2.26751076
153regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.25773137
154regulation of cartilage development (GO:0061035)2.25684038
155fibril organization (GO:0097435)2.24666321
156vasculature development (GO:0001944)2.24214790

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.17007738
2RBPJ_22232070_ChIP-Seq_NCS_Mouse4.13723988
3EZH2_22144423_ChIP-Seq_EOC_Human3.33907218
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.25279336
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.74057938
6EED_16625203_ChIP-ChIP_MESCs_Mouse2.63675616
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.63068184
8TRIM28_21343339_ChIP-Seq_HEK293_Human2.48834677
9* EZH2_27304074_Chip-Seq_ESCs_Mouse2.46893379
10* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.40825576
11* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.40825576
12WT1_19549856_ChIP-ChIP_CCG9911_Human2.31020218
13ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.28333293
14* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.26015762
15GBX2_23144817_ChIP-Seq_PC3_Human2.25648973
16JARID2_20064375_ChIP-Seq_MESCs_Mouse2.22764421
17EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.19718695
18PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.19489408
19RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.17884101
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.14367756
21ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.07946781
22* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.02265068
23* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.01816141
24SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.00850126
25RNF2_27304074_Chip-Seq_ESCs_Mouse1.99868906
26HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.99476355
27* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.96194594
28WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.92977671
29TAF15_26573619_Chip-Seq_HEK293_Human1.87376015
30EP300_21415370_ChIP-Seq_HL-1_Mouse1.85626971
31* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.78564278
32AR_21572438_ChIP-Seq_LNCaP_Human1.73271440
33BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.70641108
34CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.68735173
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68054226
36ISL1_27105846_Chip-Seq_CPCs_Mouse1.66977980
37* CBX2_27304074_Chip-Seq_ESCs_Mouse1.62674830
38TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.59878659
39TP63_19390658_ChIP-ChIP_HaCaT_Human1.58678476
40ZNF217_24962896_ChIP-Seq_MCF-7_Human1.58458671
41* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.56905034
42ZNF274_21170338_ChIP-Seq_K562_Hela1.51987932
43TP53_18474530_ChIP-ChIP_U2OS_Human1.51019458
44TP53_20018659_ChIP-ChIP_R1E_Mouse1.50610281
45MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50005800
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.49128878
47TP53_16413492_ChIP-PET_HCT116_Human1.47410588
48TCF4_18268006_ChIP-ChIP_LS174T_Human1.47046684
49RING1B_27294783_Chip-Seq_NPCs_Mouse1.46263720
50DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.45622048
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.42615509
52FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.42494178
53CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40241955
54EZH2_27294783_Chip-Seq_ESCs_Mouse1.39708702
55AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36395373
56BRD4_25478319_ChIP-Seq_HGPS_Human1.35315323
57* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.35120541
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31198651
59STAT6_21828071_ChIP-Seq_BEAS2B_Human1.30807740
60STAT3_23295773_ChIP-Seq_U87_Human1.30373083
61RING1B_27294783_Chip-Seq_ESCs_Mouse1.30146349
62DROSHA_22980978_ChIP-Seq_HELA_Human1.29112008
63ARNT_22903824_ChIP-Seq_MCF-7_Human1.28338429
64TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.27945206
65FUS_26573619_Chip-Seq_HEK293_Human1.27214637
66SMAD4_21799915_ChIP-Seq_A2780_Human1.26542566
67* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.26448442
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25991547
69* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24668937
70IGF1R_20145208_ChIP-Seq_DFB_Human1.23840853
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23782659
72SMAD3_21741376_ChIP-Seq_EPCs_Human1.22467125
73AHR_22903824_ChIP-Seq_MCF-7_Human1.22347318
74* CJUN_26792858_Chip-Seq_BT549_Human1.22122509
75SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.22081236
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22079236
77* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22017980
78* P300_19829295_ChIP-Seq_ESCs_Human1.21689977
79LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21479554
80* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.21460927
81* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.21460927
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21223582
83KDM2B_26808549_Chip-Seq_REH_Human1.21033779
84* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20755831
85NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.20529203
86ZFP57_27257070_Chip-Seq_ESCs_Mouse1.19717730
87* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.19680692
88* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.19386130
89POU5F1_16153702_ChIP-ChIP_HESCs_Human1.17419406
90* NANOG_18555785_Chip-Seq_ESCs_Mouse1.17054232
91TCF4_23295773_ChIP-Seq_U87_Human1.16226243
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15857405
93* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15673934
94* SOX9_26525672_Chip-Seq_HEART_Mouse1.15637457
95ZFP281_27345836_Chip-Seq_ESCs_Mouse1.14367273
96* AR_25329375_ChIP-Seq_VCAP_Human1.14065760
97SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13281782
98* EWS_26573619_Chip-Seq_HEK293_Human1.13215287
99KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.12946526
100BCAT_22108803_ChIP-Seq_LS180_Human1.12421727
101TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12192887
102NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11870455
103AR_19668381_ChIP-Seq_PC3_Human1.10309405
104FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.10118248
105UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.10108841
106CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09520979
107* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.08722012
108SOX2_21211035_ChIP-Seq_LN229_Gbm1.07543613
109RNF2_27304074_Chip-Seq_NSC_Mouse1.07301027
110ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06147844
111ESR1_20079471_ChIP-ChIP_T-47D_Human1.05047635
112SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.04108204
113* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.01825229
114* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01549777
115BMI1_23680149_ChIP-Seq_NPCS_Mouse1.00986361
116RXR_22108803_ChIP-Seq_LS180_Human1.00737548
117TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00456489
118TBX3_20139965_ChIP-Seq_MESCs_Mouse0.99525828
119POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98771825
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98771825
121CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96071895
122* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95925109

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.79050565
2MP0005503_abnormal_tendon_morphology4.25412813
3MP0005275_abnormal_skin_tensile2.95347433
4MP0003385_abnormal_body_wall2.92146477
5MP0003705_abnormal_hypodermis_morpholog2.91717075
6MP0003122_maternal_imprinting2.77382794
7MP0010030_abnormal_orbit_morphology2.74420837
8MP0009250_abnormal_appendicular_skeleto2.66624655
9MP0009053_abnormal_anal_canal2.56146342
10MP0000537_abnormal_urethra_morphology2.39888486
11MP0004272_abnormal_basement_membrane2.27283404
12MP0009384_cardiac_valve_regurgitation2.18471106
13MP0000049_abnormal_middle_ear2.13649165
14MP0002249_abnormal_larynx_morphology2.01583744
15* MP0003942_abnormal_urinary_system2.01338371
16MP0003755_abnormal_palate_morphology1.99355523
17MP0003937_abnormal_limbs/digits/tail_de1.99095642
18MP0003279_aneurysm1.96353814
19MP0001299_abnormal_eye_distance/1.91338248
20MP0003935_abnormal_craniofacial_develop1.88481581
21MP0003121_genomic_imprinting1.86777182
22MP0002282_abnormal_trachea_morphology1.82717116
23MP0005508_abnormal_skeleton_morphology1.82374321
24MP0002938_white_spotting1.81952069
25MP0002932_abnormal_joint_morphology1.77056585
26MP0000428_abnormal_craniofacial_morphol1.76373604
27MP0005187_abnormal_penis_morphology1.74740696
28MP0003123_paternal_imprinting1.73250831
29MP0002108_abnormal_muscle_morphology1.70879563
30MP0000569_abnormal_digit_pigmentation1.68015526
31* MP0000534_abnormal_ureter_morphology1.66176008
32MP0001958_emphysema1.65632482
33MP0002233_abnormal_nose_morphology1.64200768
34MP0005623_abnormal_meninges_morphology1.62225497
35MP0000733_abnormal_muscle_development1.61539914
36MP0010368_abnormal_lymphatic_system1.57296772
37MP0003115_abnormal_respiratory_system1.54926822
38MP0006054_spinal_hemorrhage1.53702245
39MP0002116_abnormal_craniofacial_bone1.52559368
40MP0005171_absent_coat_pigmentation1.52367840
41MP0005248_abnormal_Harderian_gland1.51780285
42MP0000566_synostosis1.47198855
43MP0005076_abnormal_cell_differentiation1.41081167
44MP0001293_anophthalmia1.40746408
45MP0002896_abnormal_bone_mineralization1.40710473
46MP0000762_abnormal_tongue_morphology1.40074331
47MP0002109_abnormal_limb_morphology1.39579209
48MP0004134_abnormal_chest_morphology1.35612611
49MP0000432_abnormal_head_morphology1.34256365
50MP0000163_abnormal_cartilage_morphology1.33995184
51MP0005367_renal/urinary_system_phenotyp1.32687247
52MP0000516_abnormal_urinary_system1.32687247
53MP0003950_abnormal_plasma_membrane1.32386643
54MP0009780_abnormal_chondrocyte_physiolo1.30668672
55MP0000013_abnormal_adipose_tissue1.28719305
56MP0002115_abnormal_skeleton_extremities1.26371717
57MP0003941_abnormal_skin_development1.25200670
58MP0001879_abnormal_lymphatic_vessel1.25164007
59MP0000778_abnormal_nervous_system1.24955397
60MP0005257_abnormal_intraocular_pressure1.22279051
61MP0005595_abnormal_vascular_smooth1.20175329
62MP0002177_abnormal_outer_ear1.16389970
63MP0001270_distended_abdomen1.14280116
64MP0003283_abnormal_digestive_organ1.12662973
65MP0005409_darkened_coat_color1.10712358
66MP0003938_abnormal_ear_development1.10484172
67MP0000767_abnormal_smooth_muscle1.07631327
68MP0002113_abnormal_skeleton_development1.06159441
69MP0004145_abnormal_muscle_electrophysio1.05411855
70MP0003119_abnormal_digestive_system1.05047482
71MP0003091_abnormal_cell_migration1.00427368
72MP0003567_abnormal_fetal_cardiomyocyte0.99220246
73* MP0002114_abnormal_axial_skeleton0.98855502
74MP0002092_abnormal_eye_morphology0.98756431
75MP0002295_abnormal_pulmonary_circulatio0.98176922
76MP0002925_abnormal_cardiovascular_devel0.95221816
77MP0006138_congestive_heart_failure0.94667306
78MP0003566_abnormal_cell_adhesion0.94195458
79MP0001340_abnormal_eyelid_morphology0.94032982
80MP0002697_abnormal_eye_size0.91847692
81MP0004197_abnormal_fetal_growth/weight/0.91462138
82MP0004233_abnormal_muscle_weight0.90353786
83MP0002089_abnormal_postnatal_growth/wei0.88928614
84MP0000751_myopathy0.88753545
85MP0010352_gastrointestinal_tract_polyps0.87232148
86MP0000462_abnormal_digestive_system0.86334938
87MP0002133_abnormal_respiratory_system0.85583422
88MP0005388_respiratory_system_phenotype0.85583422
89MP0000538_abnormal_urinary_bladder0.84746468
90* MP0002081_perinatal_lethality0.84235496
91* MP0009703_decreased_birth_body0.83702215
92MP0010386_abnormal_urinary_bladder0.83321468
93MP0004084_abnormal_cardiac_muscle0.82917594
94MP0002184_abnormal_innervation0.82658145
95* MP0003861_abnormal_nervous_system0.81517427
96MP0003890_abnormal_embryonic-extraembry0.78090964
97MP0001286_abnormal_eye_development0.77984779
98MP0001346_abnormal_lacrimal_gland0.77782905
99MP0002084_abnormal_developmental_patter0.77666135
100MP0001614_abnormal_blood_vessel0.76759388
101MP0002234_abnormal_pharynx_morphology0.76585326
102MP0001177_atelectasis0.75839457
103* MP0002111_abnormal_tail_morphology0.74903632
104MP0004859_abnormal_synaptic_plasticity0.74813714
105MP0005620_abnormal_muscle_contractility0.74676101
106MP0000266_abnormal_heart_morphology0.74636092
107MP0000631_abnormal_neuroendocrine_gland0.74153444
108MP0002168_other_aberrant_phenotype0.72520565
109* MP0002085_abnormal_embryonic_tissue0.72077310
110MP0003315_abnormal_perineum_morphology0.71484886
111MP0002128_abnormal_blood_circulation0.71176211
112MP0002060_abnormal_skin_morphology0.70920960
113MP0008789_abnormal_olfactory_epithelium0.70648602
114MP0005197_abnormal_uvea_morphology0.69448341
115MP0001243_abnormal_dermal_layer0.69151962
116MP0001175_abnormal_lung_morphology0.69060702
117MP0005369_muscle_phenotype0.68364706
118MP0001849_ear_inflammation0.68221237
119MP0002837_dystrophic_cardiac_calcinosis0.68114470
120MP0005023_abnormal_wound_healing0.67186467
121MP0000759_abnormal_skeletal_muscle0.67104983
122MP0005391_vision/eye_phenotype0.66813464
123MP0001542_abnormal_bone_strength0.66521623

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)4.87889915
2Shallow orbits (HP:0000586)4.69853833
3* Short 4th metacarpal (HP:0010044)4.40011811
4* Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)4.40011811
5Premature rupture of membranes (HP:0001788)3.74759887
6Broad metatarsal (HP:0001783)3.57011354
7* Abnormality of the 4th metacarpal (HP:0010012)3.42229759
8Ankle contracture (HP:0006466)3.20329991
9Microglossia (HP:0000171)3.19796689
10Aortic dissection (HP:0002647)3.12336234
11Midline defect of the nose (HP:0004122)2.94250711
12Mitral valve prolapse (HP:0001634)2.93772689
13Aortic aneurysm (HP:0004942)2.89333037
14Hepatoblastoma (HP:0002884)2.87308909
15Bladder diverticulum (HP:0000015)2.85731384
16Coronal craniosynostosis (HP:0004440)2.75696699
17Dilatation of the ascending aorta (HP:0005111)2.70327043
18Spinal cord lesions (HP:0100561)2.62380274
19Syringomyelia (HP:0003396)2.62380274
20Mesomelia (HP:0003027)2.57429599
21Soft skin (HP:0000977)2.57272080
22Renal duplication (HP:0000075)2.53489547
23Cerebral aneurysm (HP:0004944)2.53402198
24Buphthalmos (HP:0000557)2.52391672
25Overgrowth (HP:0001548)2.47599570
26Wrist flexion contracture (HP:0001239)2.47368083
27Asymmetry of the thorax (HP:0001555)2.45807887
28Abnormality of the parietal bone (HP:0002696)2.42478211
29Genu recurvatum (HP:0002816)2.40823964
30Neonatal short-limb short stature (HP:0008921)2.40785955
31Narrow palate (HP:0000189)2.40152569
32Deviation of the hallux (HP:0010051)2.39094054
33Broad ribs (HP:0000885)2.33879749
34Atrophic scars (HP:0001075)2.33755259
35Trigonocephaly (HP:0000243)2.30658512
36* Wide anterior fontanel (HP:0000260)2.30424654
37Follicular hyperkeratosis (HP:0007502)2.29862689
38Broad toe (HP:0001837)2.29631255
39Broad long bones (HP:0005622)2.29615815
40Hallux valgus (HP:0001822)2.28650472
41Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.25008775
42Calcaneovalgus deformity (HP:0001848)2.19333550
43Bowel diverticulosis (HP:0005222)2.18984991
44Abnormality of the phalanges of the hallux (HP:0010057)2.18632018
45Broad thumb (HP:0011304)2.18172018
46Cervical subluxation (HP:0003308)2.14772705
47Abnormality of dentin (HP:0010299)2.13815419
48Mild short stature (HP:0003502)2.13165880
49Broad phalanx (HP:0006009)2.12536076
50Deformed tarsal bones (HP:0008119)2.12173354
51Type 1 muscle fiber predominance (HP:0003803)2.11563663
52Infantile muscular hypotonia (HP:0008947)2.10694689
53Aortic regurgitation (HP:0001659)2.08863182
54Bell-shaped thorax (HP:0001591)2.06712924
55Ulnar bowing (HP:0003031)2.06624691
56Absent frontal sinuses (HP:0002688)2.04972901
57Morphological abnormality of the middle ear (HP:0008609)2.04393366
58Peritonitis (HP:0002586)2.04138132
59Disproportionate tall stature (HP:0001519)2.04010073
60Broad finger (HP:0001500)2.01747036
61Blue sclerae (HP:0000592)2.01485635
62Broad phalanges of the hand (HP:0009768)2.00511570
63Abnormality of the distal phalanx of the thumb (HP:0009617)2.00291486
64Anteriorly placed anus (HP:0001545)2.00131698
65* Cutaneous syndactyly (HP:0012725)1.96800805
66* Joint laxity (HP:0001388)1.96465736
67Limited hip movement (HP:0008800)1.95906801
68Macroorchidism (HP:0000053)1.95651181
69Wormian bones (HP:0002645)1.94542613
70Hyperextensible skin (HP:0000974)1.94230842
71Hip contracture (HP:0003273)1.93455594
72Abnormality of the calcaneus (HP:0008364)1.93333151
73* Hypoplasia of the maxilla (HP:0000327)1.92825541
74Hypoplastic ischia (HP:0003175)1.90778016
75Broad hallux (HP:0010055)1.90270963
76Fragile skin (HP:0001030)1.89804673
77Vascular tortuosity (HP:0004948)1.89648080
78Turricephaly (HP:0000262)1.89599568
79Flat cornea (HP:0007720)1.88532106
80Pulmonary artery stenosis (HP:0004415)1.88170435
81Preaxial foot polydactyly (HP:0001841)1.85711098
82Long eyelashes (HP:0000527)1.85059282
83Camptodactyly of toe (HP:0001836)1.84717909
84Renovascular hypertension (HP:0100817)1.83347336
85Tracheomalacia (HP:0002779)1.82728089
86Aplasia involving bones of the upper limbs (HP:0009823)1.82475134
87Aplasia of the phalanges of the hand (HP:0009802)1.82475134
88Aplasia involving bones of the extremities (HP:0009825)1.82475134
89* Cutaneous finger syndactyly (HP:0010554)1.82385443
90Hypoplastic labia majora (HP:0000059)1.82220002
91Osteolytic defects of the phalanges of the hand (HP:0009771)1.78879961
92Osteolytic defects of the hand bones (HP:0009699)1.78879961
93Vitreoretinal degeneration (HP:0000655)1.78374405
94Slender build (HP:0001533)1.78050970
95Aneurysm (HP:0002617)1.77993207
96Protruding ear (HP:0000411)1.77518585
97Arterial tortuosity (HP:0005116)1.77311593
98Hypoplasia of the iris (HP:0007676)1.77311425
99Striae distensae (HP:0001065)1.76114302
100Mitral regurgitation (HP:0001653)1.75570804
101Short middle phalanx of the 5th finger (HP:0004220)1.75054701
102Abnormality of the ischium (HP:0003174)1.74574888
103Dislocated radial head (HP:0003083)1.74493910
104Spinal rigidity (HP:0003306)1.73046247
105Vertebral arch anomaly (HP:0008438)1.72621697
106Keratoconus (HP:0000563)1.72174875
107Increased corneal curvature (HP:0100692)1.72174875
108Knee flexion contracture (HP:0006380)1.72139860
109Skull defect (HP:0001362)1.71056331
110Hyperventilation (HP:0002883)1.69815971
111Aortic valve stenosis (HP:0001650)1.69367845
112Neoplasm of the heart (HP:0100544)1.68813338
113Abnormality of the radial head (HP:0003995)1.68174084
114Exostoses (HP:0100777)1.68073957
115Biconcave vertebral bodies (HP:0004586)1.67948952
116Narrow nasal bridge (HP:0000446)1.67428508
117Hydroureter (HP:0000072)1.67228658
118Chin dimple (HP:0010751)1.67135216
119Joint contractures involving the joints of the feet (HP:0100492)1.66828302
120Flexion contracture of toe (HP:0005830)1.66828302
121Abnormality of the right ventricle (HP:0001707)1.66251851
122Bifid tongue (HP:0010297)1.65795177
123Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.65189134
124Increased variability in muscle fiber diameter (HP:0003557)1.65063398
125Pulmonic stenosis (HP:0001642)1.64865777
126Elbow flexion contracture (HP:0002987)1.64513392
127Fibular hypoplasia (HP:0003038)1.64375864
128Congenital glaucoma (HP:0001087)1.63222986
129Distal arthrogryposis (HP:0005684)1.62987223
130Abnormality of the 2nd finger (HP:0004100)1.62867321
131Ectopia lentis (HP:0001083)1.62641007
132Abnormality of the nasolacrimal system (HP:0000614)1.62483877
133Abnormality of the nasal septum (HP:0000419)1.62372610
134Large earlobe (HP:0009748)1.62359543
135Round face (HP:0000311)1.59191053
136Round ear (HP:0100830)1.58807174
137Spondylolisthesis (HP:0003302)1.58741551
138Arnold-Chiari malformation (HP:0002308)1.57939426

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR23.95269947
2EPHB23.86518374
3EPHA33.81619957
4LATS13.73268897
5PDGFRA3.07078523
6SIK12.96519050
7FGFR22.46367301
8TTN2.45899662
9MARK12.38547391
10MYLK2.35575908
11LATS22.07120355
12PIK3CG2.03315449
13ERBB31.98114474
14CCNB11.91625067
15KSR11.91270211
16PNCK1.89639439
17CAMK1G1.86815455
18RIPK11.81365230
19DMPK1.75680124
20CAMK1D1.73762718
21CDK121.64769276
22STK38L1.62465597
23TNIK1.57707809
24TRIB31.52125460
25FGFR11.51682977
26NEK91.44088781
27FRK1.36732436
28EPHA41.30038493
29PDGFRB1.25541178
30NTRK31.19731225
31MTOR1.18599375
32ICK1.17903273
33NTRK21.15364594
34ERBB21.13304904
35PRKD31.11133301
36STK31.09944082
37FER1.08434844
38MAP3K101.07405403
39NTRK11.07399050
40PIK3CA1.05368571
41TGFBR21.04567906
42CSNK1A1L1.03219187
43WNK31.00704097
44OBSCN0.99461445
45PKN20.98810958
46NUAK10.97637751
47BRD40.96732829
48STK390.96068141
49PAK30.95565455
50MAPK130.94776138
51PLK20.92805957
52ROCK10.91816064
53MKNK20.91197992
54PTK20.89866520
55BRSK20.89050870
56FGFR30.86061886
57SIK30.85137479
58PTK60.84770187
59BCR0.83539216
60SGK2230.82455216
61SGK4940.82455216
62TIE10.81625173
63PHKG20.80379538
64PHKG10.80379538
65PAK20.77338015
66DYRK20.76895620
67EEF2K0.76422450
68PRKCH0.76064309
69MINK10.74531133
70CSNK1G10.73620526
71WNK10.72734223
72MKNK10.70673150
73PTK2B0.70575875
74NLK0.66895738
75CDC42BPA0.64978178
76RPS6KA20.63316653
77TGFBR10.61661790
78LMTK20.60789351
79MAP3K70.60302822
80INSRR0.60251102
81ADRBK10.59985716
82CSNK1G20.59863649
83BMX0.59581765
84RET0.58961793
85MET0.58178112
86GSK3A0.57647571
87CDK60.57548069
88SIK20.57405358
89PRKD20.56077418
90SGK30.54412183
91MAP3K60.54320781
92EIF2AK20.53881280
93PKN10.53250169
94TYRO30.52537711
95MAPK70.52224848
96CDC70.51729681
97AKT30.51623129
98TRPM70.50798535
99MAP3K40.50797287
100PAK60.49668410
101CAMK40.47887713
102STK380.47101865
103BMPR1B0.46849996
104PLK30.46183500
105MAPK80.44782077
106SGK20.44595307
107PAK40.42780013
108PRKCE0.42736531
109MARK20.41572347
110SRC0.41184215
111CSNK1G30.39651574
112INSR0.37584833
113PRKG10.37500252
114PRKCZ0.37405373
115MELK0.37238414
116DYRK1A0.37032402
117ROCK20.36742177
118CASK0.36467866
119MAPK90.36214447
120CDK10.35992589
121MAP2K70.35874865
122PRKD10.34730014
123IGF1R0.34167711
124ILK0.32831906
125MAPK10.32446242
126GSK3B0.32064732
127SGK10.31573372
128PRKAA10.31567318
129CDK50.31397676
130AKT10.31295447
131CSNK1D0.31288490
132PRKACB0.31288022
133MAP2K40.30111861
134CAMK10.28164365

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal cell carcinoma_Homo sapiens_hsa052173.02900174
2ECM-receptor interaction_Homo sapiens_hsa045122.40819117
3Axon guidance_Homo sapiens_hsa043602.39622557
4Hedgehog signaling pathway_Homo sapiens_hsa043402.30705953
5Hippo signaling pathway_Homo sapiens_hsa043902.10342425
6Focal adhesion_Homo sapiens_hsa045102.09039249
7Adherens junction_Homo sapiens_hsa045202.08265364
8Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.97316925
9Proteoglycans in cancer_Homo sapiens_hsa052051.84979621
10Wnt signaling pathway_Homo sapiens_hsa043101.81652046
11TGF-beta signaling pathway_Homo sapiens_hsa043501.77195620
12MicroRNAs in cancer_Homo sapiens_hsa052061.75271557
13Dilated cardiomyopathy_Homo sapiens_hsa054141.69258594
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.67274847
15Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.65227439
16Protein digestion and absorption_Homo sapiens_hsa049741.64887605
17Melanogenesis_Homo sapiens_hsa049161.57873399
18Colorectal cancer_Homo sapiens_hsa052101.50572190
19Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.50178219
20Glioma_Homo sapiens_hsa052141.49382645
21Endometrial cancer_Homo sapiens_hsa052131.39671401
22Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.36019144
23AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.32865514
24Prostate cancer_Homo sapiens_hsa052151.29479779
25Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.27944280
26Chronic myeloid leukemia_Homo sapiens_hsa052201.27565316
27Viral myocarditis_Homo sapiens_hsa054161.26851422
28Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.25764574
29Gap junction_Homo sapiens_hsa045401.22378577
30Melanoma_Homo sapiens_hsa052181.21207942
31Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.19403584
32Small cell lung cancer_Homo sapiens_hsa052221.18622151
33Type II diabetes mellitus_Homo sapiens_hsa049301.18192273
34Pathways in cancer_Homo sapiens_hsa052001.17744038
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.16670351
36Thyroid hormone signaling pathway_Homo sapiens_hsa049191.16581448
37Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.15359799
38Circadian entrainment_Homo sapiens_hsa047131.14140465
39Lysine degradation_Homo sapiens_hsa003101.12282429
40Rap1 signaling pathway_Homo sapiens_hsa040151.12092513
41PI3K-Akt signaling pathway_Homo sapiens_hsa041511.11884990
42Amoebiasis_Homo sapiens_hsa051461.11254270
43Renal cell carcinoma_Homo sapiens_hsa052111.10646807
44mTOR signaling pathway_Homo sapiens_hsa041501.09597499
45Estrogen signaling pathway_Homo sapiens_hsa049151.08648158
46Dorso-ventral axis formation_Homo sapiens_hsa043201.07851033
47Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.07723527
48cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06537711
49Renin secretion_Homo sapiens_hsa049241.03596162
50GnRH signaling pathway_Homo sapiens_hsa049121.02731535
51Aldosterone synthesis and secretion_Homo sapiens_hsa049251.02629212
52Circadian rhythm_Homo sapiens_hsa047101.00137401
53Longevity regulating pathway - mammal_Homo sapiens_hsa042110.99057755
54Notch signaling pathway_Homo sapiens_hsa043300.98565796
55Tight junction_Homo sapiens_hsa045300.97486071
56Pancreatic cancer_Homo sapiens_hsa052120.97238891
57ErbB signaling pathway_Homo sapiens_hsa040120.97098587
58Long-term potentiation_Homo sapiens_hsa047200.94195337
59Regulation of actin cytoskeleton_Homo sapiens_hsa048100.94075497
60Neurotrophin signaling pathway_Homo sapiens_hsa047220.93701914
61HTLV-I infection_Homo sapiens_hsa051660.90745209
62Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.87774732
63Oxytocin signaling pathway_Homo sapiens_hsa049210.87456392
64Cholinergic synapse_Homo sapiens_hsa047250.85788858
65cAMP signaling pathway_Homo sapiens_hsa040240.85680283
66Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85256793
67Ovarian steroidogenesis_Homo sapiens_hsa049130.85018388
68Bladder cancer_Homo sapiens_hsa052190.84410034
69Dopaminergic synapse_Homo sapiens_hsa047280.83246408
70Taste transduction_Homo sapiens_hsa047420.82684830
71Amphetamine addiction_Homo sapiens_hsa050310.82018548
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.81970463
73Cocaine addiction_Homo sapiens_hsa050300.79883577
74Non-small cell lung cancer_Homo sapiens_hsa052230.79070780
75Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.78988171
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.78303767
77Ras signaling pathway_Homo sapiens_hsa040140.77739079
78Renin-angiotensin system_Homo sapiens_hsa046140.77226431
79Central carbon metabolism in cancer_Homo sapiens_hsa052300.76941509
80FoxO signaling pathway_Homo sapiens_hsa040680.75855228
81Vascular smooth muscle contraction_Homo sapiens_hsa042700.75602508
82Oocyte meiosis_Homo sapiens_hsa041140.75108526
83MAPK signaling pathway_Homo sapiens_hsa040100.74432809
84Choline metabolism in cancer_Homo sapiens_hsa052310.74135218
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.73912531
86Platelet activation_Homo sapiens_hsa046110.73669042
87Long-term depression_Homo sapiens_hsa047300.73230305
88Glutamatergic synapse_Homo sapiens_hsa047240.72121041
89Cell cycle_Homo sapiens_hsa041100.72001839
90AMPK signaling pathway_Homo sapiens_hsa041520.70623409
91Morphine addiction_Homo sapiens_hsa050320.70139153
92Insulin signaling pathway_Homo sapiens_hsa049100.69765078
93Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66325557
94Insulin resistance_Homo sapiens_hsa049310.65871468
95Prolactin signaling pathway_Homo sapiens_hsa049170.65196210
96Alcoholism_Homo sapiens_hsa050340.64918998
97Nicotine addiction_Homo sapiens_hsa050330.63660331
98Insulin secretion_Homo sapiens_hsa049110.61671657
99Thyroid hormone synthesis_Homo sapiens_hsa049180.61237129
100Salivary secretion_Homo sapiens_hsa049700.59321956
101Complement and coagulation cascades_Homo sapiens_hsa046100.59291705
102Calcium signaling pathway_Homo sapiens_hsa040200.58932628
103Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.58659601
104Gastric acid secretion_Homo sapiens_hsa049710.57741978
105VEGF signaling pathway_Homo sapiens_hsa043700.57516213
106Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.56711996
107Prion diseases_Homo sapiens_hsa050200.55539778
108GABAergic synapse_Homo sapiens_hsa047270.51205759
109Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.50220267
110Inositol phosphate metabolism_Homo sapiens_hsa005620.50133266
111Leukocyte transendothelial migration_Homo sapiens_hsa046700.49145157
112Serotonergic synapse_Homo sapiens_hsa047260.45920995
113ABC transporters_Homo sapiens_hsa020100.43661211
114Phosphatidylinositol signaling system_Homo sapiens_hsa040700.41156762

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