LTBP1

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 belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mesenchymal-epithelial cell signaling (GO:0060638)6.12067301
2chondrocyte proliferation (GO:0035988)5.58028970
3collagen fibril organization (GO:0030199)5.37051881
4bone trabecula formation (GO:0060346)4.57306304
5extracellular fibril organization (GO:0043206)4.55430765
6regulation of branching involved in salivary gland morphogenesis (GO:0060693)4.39363047
7endodermal cell differentiation (GO:0035987)4.26081853
8apoptotic cell clearance (GO:0043277)4.18790839
9neuron projection extension involved in neuron projection guidance (GO:1902284)4.17826679
10axon extension involved in axon guidance (GO:0048846)4.17826679
11hemidesmosome assembly (GO:0031581)4.13101419
12protein heterotrimerization (GO:0070208)4.06309195
13* sequestering of extracellular ligand from receptor (GO:0035581)3.99960487
14craniofacial suture morphogenesis (GO:0097094)3.99030873
15regulation of integrin activation (GO:0033623)3.93344973
16protein localization to cell surface (GO:0034394)3.83090798
17fibril organization (GO:0097435)3.81533031
18substrate-dependent cell migration (GO:0006929)3.77904845
19dermatan sulfate biosynthetic process (GO:0030208)3.77236600
20cell adhesion mediated by integrin (GO:0033627)3.75798512
21branching involved in salivary gland morphogenesis (GO:0060445)3.62666215
22plasma membrane repair (GO:0001778)3.57827370
23paraxial mesoderm development (GO:0048339)3.57301101
24regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.52759466
25negative regulation of fatty acid transport (GO:2000192)3.51893295
26positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.51579920
27outer ear morphogenesis (GO:0042473)3.48846952
28dermatan sulfate metabolic process (GO:0030205)3.46782211
29cellular response to vitamin D (GO:0071305)3.44772944
30planar cell polarity pathway involved in neural tube closure (GO:0090179)3.43304022
31negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.43022682
32metanephric mesenchyme development (GO:0072075)3.42616124
33regulation of apoptotic cell clearance (GO:2000425)3.39066335
34cell proliferation involved in metanephros development (GO:0072203)3.38498344
35positive regulation of endothelial cell apoptotic process (GO:2000353)3.35773062
36mesodermal cell differentiation (GO:0048333)3.35356561
37wound healing, spreading of epidermal cells (GO:0035313)3.32515954
38skin morphogenesis (GO:0043589)3.30901792
39regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.30877465
40regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.28324275
41lateral sprouting from an epithelium (GO:0060601)3.28088713
42regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.27928881
43collagen metabolic process (GO:0032963)3.27882757
44type B pancreatic cell proliferation (GO:0044342)3.26001894
45collagen catabolic process (GO:0030574)3.20964414
46cranial suture morphogenesis (GO:0060363)3.16447135
47regulation of integrin-mediated signaling pathway (GO:2001044)3.15088402
48basement membrane organization (GO:0071711)3.14543658
49negative regulation of chondrocyte differentiation (GO:0032331)3.14406644
50kidney mesenchyme development (GO:0072074)3.13903484
51dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.11204159
52glomerular basement membrane development (GO:0032836)3.10842200
53positive regulation of osteoblast proliferation (GO:0033690)3.10693784
54hippo signaling (GO:0035329)3.09954255
55G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.09565818
56cell proliferation involved in kidney development (GO:0072111)3.09432898
57negative regulation of axon extension involved in axon guidance (GO:0048843)3.08987640
58embryonic cranial skeleton morphogenesis (GO:0048701)3.08511859
59negative regulation of smooth muscle cell migration (GO:0014912)3.07975264
60insulin-like growth factor receptor signaling pathway (GO:0048009)3.07859938
61organ induction (GO:0001759)3.06738680
62multicellular organismal macromolecule metabolic process (GO:0044259)3.06595804
63endocardial cushion development (GO:0003197)3.06095604
64positive regulation of blood vessel endothelial cell migration (GO:0043536)3.02813696
65radial glial cell differentiation (GO:0060019)3.01382057
66cell migration involved in sprouting angiogenesis (GO:0002042)3.01152896
67cardiac epithelial to mesenchymal transition (GO:0060317)3.01115887
68regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)3.00084555
69* extracellular structure organization (GO:0043062)2.99308332
70COPI coating of Golgi vesicle (GO:0048205)2.98261922
71Golgi transport vesicle coating (GO:0048200)2.98261922
72positive regulation of mesenchymal cell proliferation (GO:0002053)2.97622470
73regulation of cardioblast differentiation (GO:0051890)2.95769568
74mesenchymal cell proliferation (GO:0010463)2.95696998
75axis elongation (GO:0003401)2.95067418
76regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.95055335
77hypotonic response (GO:0006971)2.93878289
78vascular endothelial growth factor signaling pathway (GO:0038084)2.93370577
79regulation of axon extension involved in axon guidance (GO:0048841)2.93028572
80prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.91361192
81cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.91203864
82multicellular organismal catabolic process (GO:0044243)2.89895972
83muscle cell migration (GO:0014812)2.89861762
84positive regulation of macrophage activation (GO:0043032)2.88318415
85positive regulation of Rho protein signal transduction (GO:0035025)2.87767793
86extracellular matrix disassembly (GO:0022617)2.87466706
87cellular response to vitamin (GO:0071295)2.87313974
88atrial septum morphogenesis (GO:0060413)2.86574796
89trabecula formation (GO:0060343)2.86150315
90multicellular organismal metabolic process (GO:0044236)2.86102173
91regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.85590860
92heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.85561918
93desmosome organization (GO:0002934)2.85272715
94keratan sulfate catabolic process (GO:0042340)2.81908035
95chondrocyte development (GO:0002063)2.80566514
96cardiac myofibril assembly (GO:0055003)2.79808756
97barbed-end actin filament capping (GO:0051016)2.78858008
98substrate adhesion-dependent cell spreading (GO:0034446)2.78239668
99regulation of mesenchymal cell proliferation (GO:0010464)2.78036122
100epithelial to mesenchymal transition (GO:0001837)2.76515666
101protein retention in ER lumen (GO:0006621)2.76012025
102smooth muscle tissue development (GO:0048745)2.74637392
103maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.74190085
104positive regulation of epithelial to mesenchymal transition (GO:0010718)2.74021968
105middle ear morphogenesis (GO:0042474)2.73658485
106Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.73547178
107retina vasculature morphogenesis in camera-type eye (GO:0061299)2.73361380
108extracellular matrix assembly (GO:0085029)2.73174265
109branching involved in prostate gland morphogenesis (GO:0060442)2.72820063
110regulation of cartilage development (GO:0061035)2.72768382
111endothelial cell morphogenesis (GO:0001886)2.71994408
112cell-matrix adhesion (GO:0007160)2.71666867
113blood vessel maturation (GO:0001955)2.71559706
114atrioventricular valve morphogenesis (GO:0003181)2.71041573
115epithelial cell-cell adhesion (GO:0090136)2.70959918
116cell migration involved in heart development (GO:0060973)2.69669321
117lymphangiogenesis (GO:0001946)2.69106633
118glomerular filtration (GO:0003094)2.68893356
119adherens junction assembly (GO:0034333)2.67997414
120negative regulation of cartilage development (GO:0061037)2.67527670
121regulation of osteoblast proliferation (GO:0033688)2.66079728
122regulation of establishment of planar polarity (GO:0090175)2.65649774
123negative chemotaxis (GO:0050919)2.65418978
124regulation of axon guidance (GO:1902667)2.64479826
125positive regulation of cartilage development (GO:0061036)2.64122416
126regulation of chondrocyte differentiation (GO:0032330)2.64031550
127glial cell migration (GO:0008347)2.62368365
128regulation of transforming growth factor beta2 production (GO:0032909)2.62294800
129negative regulation of axon guidance (GO:1902668)2.61965203
130wound healing, spreading of cells (GO:0044319)2.61932301
131cell-substrate adhesion (GO:0031589)2.61047254
132renal filtration (GO:0097205)2.60435479
133vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.59452282
134cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.58679225
135stress fiber assembly (GO:0043149)2.58420135
136negative regulation of protein localization to cell surface (GO:2000009)2.58401901
137protein localization to endosome (GO:0036010)2.58397088
138negative regulation of catenin import into nucleus (GO:0035414)2.58280439
139branch elongation of an epithelium (GO:0060602)2.57589522
140cell-substrate junction assembly (GO:0007044)2.57349912
141negative regulation of osteoblast proliferation (GO:0033689)2.57031048
142pericardium development (GO:0060039)2.56927226
143negative regulation of embryonic development (GO:0045992)2.55729215
144wound healing (GO:0042060)2.55660775
145peptidyl-proline hydroxylation (GO:0019511)2.55087639
146* extracellular matrix organization (GO:0030198)2.52205934

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.44385527
2* RARG_19884340_ChIP-ChIP_MEFs_Mouse3.81846955
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.78000944
4* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.87388026
5* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.81548235
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.71000905
7WT1_19549856_ChIP-ChIP_CCG9911_Human2.64087103
8* CJUN_26792858_Chip-Seq_BT549_Human2.56671036
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.52882671
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.47525589
11* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.45954534
12* EP300_21415370_ChIP-Seq_HL-1_Mouse2.45279267
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.40290192
14EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.38678737
15SMAD_19615063_ChIP-ChIP_OVARY_Human2.34966562
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.31188812
17* BRD4_25478319_ChIP-Seq_HGPS_Human2.31096366
18* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.30147111
19TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.27796870
20* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.19611353
21EGR1_19374776_ChIP-ChIP_THP-1_Human2.19605761
22CLOCK_20551151_ChIP-Seq_293T_Human2.16570624
23NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.14845473
24NRF2_20460467_ChIP-Seq_MEFs_Mouse2.14845473
25FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.06162213
26CDX2_19796622_ChIP-Seq_MESCs_Mouse1.98047115
27WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.94889738
28BP1_19119308_ChIP-ChIP_Hs578T_Human1.94862031
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.87994876
30* TP53_18474530_ChIP-ChIP_U2OS_Human1.86876138
31HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.86758278
32SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.81252486
33SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.81252486
34CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.76845023
35* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.76409297
36* TP53_16413492_ChIP-PET_HCT116_Human1.74766547
37SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.74658853
38HIF1A_21447827_ChIP-Seq_MCF-7_Human1.64854959
39* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.59992270
40RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.59671014
41SOX9_24532713_ChIP-Seq_HFSC_Mouse1.56398935
42STAT6_21828071_ChIP-Seq_BEAS2B_Human1.51843510
43ESR1_21235772_ChIP-Seq_MCF-7_Human1.51272678
44TP53_20018659_ChIP-ChIP_R1E_Mouse1.49582914
45ISL1_27105846_Chip-Seq_CPCs_Mouse1.45549077
46SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.39743397
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.38248236
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37356633
49TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.37306804
50EZH2_18974828_ChIP-Seq_MESCs_Mouse1.36461513
51RNF2_18974828_ChIP-Seq_MESCs_Mouse1.36461513
52TP63_19390658_ChIP-ChIP_HaCaT_Human1.33840165
53SALL1_21062744_ChIP-ChIP_HESCs_Human1.33434278
54GATA2_21666600_ChIP-Seq_HMVEC_Human1.31747660
55SMC1_22415368_ChIP-Seq_MEFs_Mouse1.31163320
56ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.30634719
57UBF1/2_26484160_Chip-Seq_HMECs_Human1.29162152
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.28018000
59* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.27570499
60* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26921687
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.25559021
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.25245198
63TBX20_22328084_ChIP-Seq_HEART_Mouse1.24987902
64TBX20_22080862_ChIP-Seq_HEART_Mouse1.24987902
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.24436386
66SALL4_18804426_ChIP-ChIP_XEN_Mouse1.23217218
67DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.22862106
68SOX2_20726797_ChIP-Seq_SW620_Human1.19870494
69PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19695736
70* MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.19415438
71JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18282211
72CTNNB1_20460455_ChIP-Seq_HCT116_Human1.17793564
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.17728160
74NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.17645507
75JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16922491
76TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.14661997
77ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.14523773
78ELK3_25401928_ChIP-Seq_HUVEC_Human1.14345626
79SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.14003598
80RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13429932
81BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13406827
82ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.12946737
83GBX2_23144817_ChIP-Seq_PC3_Human1.11880199
84P300_27058665_Chip-Seq_ZR-75-30cells_Human1.10848925
85PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.10568346
86BCAT_22108803_ChIP-Seq_LS180_Human1.10358523
87ESR2_21235772_ChIP-Seq_MCF-7_Human1.09908286
88* TP53_23651856_ChIP-Seq_MEFs_Mouse1.05709515
89* TCF4_18268006_ChIP-ChIP_LS174T_Human1.05234656
90NFIB_24661679_ChIP-Seq_LUNG_Mouse1.05224616
91FOXO3_23340844_ChIP-Seq_DLD1_Human1.04524111
92RXR_22108803_ChIP-Seq_LS180_Human1.04290698
93FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.04282163
94TP53_22127205_ChIP-Seq_IMR90_Human1.04086319
95* SA1_22415368_ChIP-Seq_MEFs_Mouse1.03309723
96SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.01177067
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01059320
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98237996
99MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97984185
100* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.97965772
101AHR_22903824_ChIP-Seq_MCF-7_Human0.97918763
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97603034
103AR_21572438_ChIP-Seq_LNCaP_Human0.97464216
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96978718
105VDR_24787735_ChIP-Seq_THP-1_Human0.96724885
106NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.96499298
107SMC3_22415368_ChIP-Seq_MEFs_Mouse0.96478412
108* TBX3_20139965_ChIP-Seq_MESCs_Mouse0.96277483
109* TBX3_20139965_ChIP-Seq_ESCs_Mouse0.96261228
110NFI_21473784_ChIP-Seq_ESCs_Mouse0.95099083
111EZH2_27304074_Chip-Seq_ESCs_Mouse0.94419708
112PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93900227
113RNF2_27304074_Chip-Seq_ESCs_Mouse0.93506556
114ARNT_22903824_ChIP-Seq_MCF-7_Human0.92465740
115VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91131825
116NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.89709854
117ESR1_20079471_ChIP-ChIP_T-47D_Human0.89118973
118KLF5_25053715_ChIP-Seq_YYC3_Human0.88713459
119* TP63_23658742_ChIP-Seq_EP156T_Human0.88362374
120UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.85199858

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.24664267
2MP0005503_abnormal_tendon_morphology4.29541879
3MP0005275_abnormal_skin_tensile4.28107993
4MP0003705_abnormal_hypodermis_morpholog3.49609796
5MP0003279_aneurysm3.21802003
6MP0004272_abnormal_basement_membrane2.97852660
7MP0001958_emphysema2.66722206
8MP0005623_abnormal_meninges_morphology2.58536649
9MP0010030_abnormal_orbit_morphology2.50731854
10MP0009384_cardiac_valve_regurgitation2.41203706
11MP0009250_abnormal_appendicular_skeleto2.16536520
12MP0009053_abnormal_anal_canal2.09757196
13MP0005508_abnormal_skeleton_morphology2.06912121
14MP0001299_abnormal_eye_distance/2.00265319
15MP0005257_abnormal_intraocular_pressure1.98731688
16MP0003950_abnormal_plasma_membrane1.97237817
17MP0003566_abnormal_cell_adhesion1.92949412
18MP0010368_abnormal_lymphatic_system1.91595980
19MP0003385_abnormal_body_wall1.90817195
20MP0010352_gastrointestinal_tract_polyps1.87096729
21MP0002282_abnormal_trachea_morphology1.81602206
22MP0003091_abnormal_cell_migration1.81093690
23MP0005023_abnormal_wound_healing1.74417095
24MP0002060_abnormal_skin_morphology1.71360175
25MP0003941_abnormal_skin_development1.70710926
26MP0000733_abnormal_muscle_development1.67670228
27MP0002108_abnormal_muscle_morphology1.63781100
28MP0000428_abnormal_craniofacial_morphol1.63592847
29MP0003942_abnormal_urinary_system1.62243091
30* MP0000767_abnormal_smooth_muscle1.54695372
31MP0002295_abnormal_pulmonary_circulatio1.47155226
32MP0006054_spinal_hemorrhage1.45433739
33MP0002896_abnormal_bone_mineralization1.44631911
34MP0000537_abnormal_urethra_morphology1.43860948
35MP0002932_abnormal_joint_morphology1.39201514
36MP0009780_abnormal_chondrocyte_physiolo1.34811118
37MP0000750_abnormal_muscle_regeneration1.34737056
38MP0004036_abnormal_muscle_relaxation1.32082703
39MP0001243_abnormal_dermal_layer1.31978781
40MP0003937_abnormal_limbs/digits/tail_de1.31623757
41MP0000013_abnormal_adipose_tissue1.30683359
42MP0000049_abnormal_middle_ear1.30351046
43MP0000751_myopathy1.29594426
44MP0002168_other_aberrant_phenotype1.28625631
45MP0000163_abnormal_cartilage_morphology1.28453270
46MP0002115_abnormal_skeleton_extremities1.27744484
47MP0000534_abnormal_ureter_morphology1.24879325
48MP0003115_abnormal_respiratory_system1.21820247
49MP0003755_abnormal_palate_morphology1.21205744
50MP0004510_myositis1.19748374
51MP0005390_skeleton_phenotype1.19256346
52MP0004134_abnormal_chest_morphology1.15961361
53MP0005367_renal/urinary_system_phenotyp1.14925751
54MP0000516_abnormal_urinary_system1.14925751
55MP0003045_fibrosis1.14145622
56MP0008775_abnormal_heart_ventricle1.13646795
57MP0000566_synostosis1.13594586
58* MP0003935_abnormal_craniofacial_develop1.12760326
59MP0002113_abnormal_skeleton_development1.10176268
60MP0001879_abnormal_lymphatic_vessel1.09658896
61MP0002109_abnormal_limb_morphology1.07829898
62MP0002938_white_spotting1.06476206
63MP0005187_abnormal_penis_morphology1.06243496
64MP0002249_abnormal_larynx_morphology1.06124326
65* MP0000432_abnormal_head_morphology1.04604052
66MP0005409_darkened_coat_color1.01080271
67MP0002877_abnormal_melanocyte_morpholog0.99819037
68MP0002933_joint_inflammation0.99463958
69* MP0002116_abnormal_craniofacial_bone0.98304826
70MP0002128_abnormal_blood_circulation0.97608779
71MP0002177_abnormal_outer_ear0.96799874
72MP0005076_abnormal_cell_differentiation0.95700550
73MP0005248_abnormal_Harderian_gland0.95011443
74* MP0001614_abnormal_blood_vessel0.92933554
75MP0000762_abnormal_tongue_morphology0.92210728
76* MP0002925_abnormal_cardiovascular_devel0.90193546
77MP0005620_abnormal_muscle_contractility0.89364635
78MP0005330_cardiomyopathy0.88507956
79MP0001542_abnormal_bone_strength0.88280384
80MP0002972_abnormal_cardiac_muscle0.87484986
81MP0001175_abnormal_lung_morphology0.86826184
82MP0002998_abnormal_bone_remodeling0.86625813
83MP0010630_abnormal_cardiac_muscle0.83252798
84MP0000462_abnormal_digestive_system0.82980209
85MP0004084_abnormal_cardiac_muscle0.82712290
86MP0001915_intracranial_hemorrhage0.81522539
87MP0008004_abnormal_stomach_pH0.81433389
88MP0004808_abnormal_hematopoietic_stem0.81411502
89MP0000579_abnormal_nail_morphology0.78593218
90MP0005165_increased_susceptibility_to0.78443671
91MP0001293_anophthalmia0.78435003
92MP0004087_abnormal_muscle_fiber0.77919826
93MP0000749_muscle_degeneration0.77414581
94MP0003828_pulmonary_edema0.77270264
95MP0005595_abnormal_vascular_smooth0.76899545
96MP0002233_abnormal_nose_morphology0.76800171
97MP0002092_abnormal_eye_morphology0.76487669
98MP0000759_abnormal_skeletal_muscle0.76004045
99MP0002114_abnormal_axial_skeleton0.75024913
100MP0003300_gastrointestinal_ulcer0.74423064
101MP0000569_abnormal_digit_pigmentation0.73841464
102MP0002697_abnormal_eye_size0.72533282
103MP0002111_abnormal_tail_morphology0.72226718
104MP0005171_absent_coat_pigmentation0.72185327
105MP0002089_abnormal_postnatal_growth/wei0.71753132
106MP0002127_abnormal_cardiovascular_syste0.71321323
107MP0000003_abnormal_adipose_tissue0.71256322
108MP0002133_abnormal_respiratory_system0.70996910
109MP0005388_respiratory_system_phenotype0.70996910
110MP0000467_abnormal_esophagus_morphology0.69701844
111MP0006138_congestive_heart_failure0.69674281
112MP0005197_abnormal_uvea_morphology0.69557869
113MP0003795_abnormal_bone_structure0.69009514
114MP0009278_abnormal_bone_marrow0.68633826
115MP0001849_ear_inflammation0.68479999
116MP0004858_abnormal_nervous_system0.67288912
117* MP0000266_abnormal_heart_morphology0.64374478
118MP0001346_abnormal_lacrimal_gland0.64326151
119MP0003283_abnormal_digestive_organ0.63779406
120MP0010386_abnormal_urinary_bladder0.62864695
121MP0005369_muscle_phenotype0.59927483
122MP0001544_abnormal_cardiovascular_syste0.59494127

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)6.27110828
2Protrusio acetabuli (HP:0003179)6.16471086
3Shallow orbits (HP:0000586)5.57949592
4Broad metatarsal (HP:0001783)4.52403559
5Aortic dissection (HP:0002647)4.33711436
6Peritonitis (HP:0002586)4.19038686
7Cervical subluxation (HP:0003308)3.88208192
8Ankle contracture (HP:0006466)3.66956669
9Atrophic scars (HP:0001075)3.64925263
10Cerebral aneurysm (HP:0004944)3.59630047
11Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.59405269
12Short 4th metacarpal (HP:0010044)3.59405269
13Aortic aneurysm (HP:0004942)3.55377220
14Wrist flexion contracture (HP:0001239)3.42373650
15Soft skin (HP:0000977)3.39856475
16Fragile skin (HP:0001030)3.15932262
17Slender build (HP:0001533)3.14196439
18Dilatation of the ascending aorta (HP:0005111)3.12516823
19Mesomelia (HP:0003027)2.99643191
20Abnormality of the 4th metacarpal (HP:0010012)2.94918540
21Bladder diverticulum (HP:0000015)2.89408787
22Increased variability in muscle fiber diameter (HP:0003557)2.87739267
23Broad face (HP:0000283)2.84335944
24Syringomyelia (HP:0003396)2.83482849
25Spinal cord lesions (HP:0100561)2.83482849
26Mitral valve prolapse (HP:0001634)2.83464076
27Short nail (HP:0001799)2.82662192
28Abnormality of dentin (HP:0010299)2.69688416
29Neonatal short-limb short stature (HP:0008921)2.67679065
30Coronal craniosynostosis (HP:0004440)2.65750596
31Spinal rigidity (HP:0003306)2.64295603
32Wormian bones (HP:0002645)2.64002081
33Increased connective tissue (HP:0009025)2.57397495
34Spondylolisthesis (HP:0003302)2.57237160
35Genu recurvatum (HP:0002816)2.56985191
36Abnormality of the distal phalanx of the thumb (HP:0009617)2.54979490
37Abnormality of the parietal bone (HP:0002696)2.54395324
38Abnormality of the nasal septum (HP:0000419)2.53659028
39Blue sclerae (HP:0000592)2.49738460
40Abnormality of skeletal muscle fiber size (HP:0012084)2.46283186
41Infantile muscular hypotonia (HP:0008947)2.45937463
42Type 1 muscle fiber predominance (HP:0003803)2.44070942
43Mild short stature (HP:0003502)2.41325152
44Follicular hyperkeratosis (HP:0007502)2.37612191
45Increased density of long bones (HP:0006392)2.37391694
46Vascular tortuosity (HP:0004948)2.36934946
47Bell-shaped thorax (HP:0001591)2.36444998
48Biconcave vertebral bodies (HP:0004586)2.34867536
49Deviation of the hallux (HP:0010051)2.33385643
50Osteolytic defects of the phalanges of the hand (HP:0009771)2.31837539
51Osteolytic defects of the hand bones (HP:0009699)2.31837539
52Ectopia lentis (HP:0001083)2.24908725
53Vertebral compression fractures (HP:0002953)2.24517332
54Wide anterior fontanel (HP:0000260)2.23176586
55Bronchomalacia (HP:0002780)2.22465638
56Short hallux (HP:0010109)2.20057154
57Hypoventilation (HP:0002791)2.19722530
58Abnormality of the peritoneum (HP:0002585)2.19101442
59Ulnar bowing (HP:0003031)2.18923215
60Broad long bones (HP:0005622)2.18055061
61Disproportionate tall stature (HP:0001519)2.17063581
62Hypoplasia of the iris (HP:0007676)2.11870502
63Hyperextensible skin (HP:0000974)2.10630385
64Radial bowing (HP:0002986)2.10054976
65Aplasia involving bones of the upper limbs (HP:0009823)2.09147958
66Aplasia of the phalanges of the hand (HP:0009802)2.09147958
67Aplasia involving bones of the extremities (HP:0009825)2.09147958
68Mitral stenosis (HP:0001718)2.07926058
69Increased mean platelet volume (HP:0011877)2.07849125
70Aneurysm (HP:0002617)2.07408002
71Overgrowth (HP:0001548)2.07347062
72Midline defect of the nose (HP:0004122)2.07294435
73Trigonocephaly (HP:0000243)2.07273173
74Bowel diverticulosis (HP:0005222)2.07063379
75Hallux valgus (HP:0001822)2.06197680
76Elbow flexion contracture (HP:0002987)2.04898026
77Tibial bowing (HP:0002982)2.04307216
78Camptodactyly of toe (HP:0001836)2.03964036
79Broad toe (HP:0001837)2.02712177
80Cardiovascular calcification (HP:0011915)2.02167044
81Bowed forearm bones (HP:0003956)2.00796665
82Bowing of the arm (HP:0006488)2.00796665
83Limited hip movement (HP:0008800)1.99793169
84Broad hallux (HP:0010055)1.99620843
85Aplasia/Hypoplasia of the hallux (HP:0008362)1.99453044
86Abnormality of skull ossification (HP:0002703)1.98144389
87Joint laxity (HP:0001388)1.97999700
88Decreased skull ossification (HP:0004331)1.97212931
89Breech presentation (HP:0001623)1.97120368
90Abnormality of the proximal phalanges of the hand (HP:0009834)1.97046792
91Arterial tortuosity (HP:0005116)1.96924961
92Exostoses (HP:0100777)1.96653771
93Absent frontal sinuses (HP:0002688)1.96234697
94Scapular winging (HP:0003691)1.95942513
95Aortic valve stenosis (HP:0001650)1.95618295
96Joint stiffness (HP:0001387)1.95176769
97Osteoarthritis (HP:0002758)1.94092298
98Broad phalanx (HP:0006009)1.92195507
99Mitral regurgitation (HP:0001653)1.92137065
100Protruding ear (HP:0000411)1.91734543
101Menorrhagia (HP:0000132)1.90538778
102Natal tooth (HP:0000695)1.90477384
103Tarsal synostosis (HP:0008368)1.90209736
104Toxemia of pregnancy (HP:0100603)1.89723427
105Broad thumb (HP:0011304)1.89471779
106Round ear (HP:0100830)1.89384274
107Limb-girdle muscle weakness (HP:0003325)1.89271134
108Enlarged penis (HP:0000040)1.87627483
109Femoral bowing (HP:0002980)1.87492215
110Broad ribs (HP:0000885)1.86905817
111Hip contracture (HP:0003273)1.86718085
112Abnormality of the acetabulum (HP:0003170)1.86418527
113Thin bony cortex (HP:0002753)1.86416900
114Mildly elevated creatine phosphokinase (HP:0008180)1.86141224
115Venous abnormality (HP:0002624)1.85898150
116Abnormal delivery (HP:0001787)1.83792141
117Turricephaly (HP:0000262)1.82416597
118Aortic regurgitation (HP:0001659)1.82036478
119Generalized amyotrophy (HP:0003700)1.81911322
120Buphthalmos (HP:0000557)1.80844632
121Right ventricular cardiomyopathy (HP:0011663)1.79985156
122Hypoplastic ischia (HP:0003175)1.78432327
123Distal lower limb amyotrophy (HP:0008944)1.78134706
124Knee flexion contracture (HP:0006380)1.77362822
125Pulmonary artery stenosis (HP:0004415)1.77153804
126Dislocated radial head (HP:0003083)1.76942601
127Venous insufficiency (HP:0005293)1.76143800
128Inguinal hernia (HP:0000023)1.72215093
129Abnormal platelet volume (HP:0011876)1.71683529
130Coxa vara (HP:0002812)1.66583210
131Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.66269269
132Lipoatrophy (HP:0100578)1.64491901
133Ventricular tachycardia (HP:0004756)1.64234516
134Nonimmune hydrops fetalis (HP:0001790)1.63760402
135Delayed cranial suture closure (HP:0000270)1.60895072
136Cupped ribs (HP:0000887)1.60163592
137Osteopenia (HP:0000938)1.59540428

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.25232289
2DDR24.26908843
3LATS14.12758572
4PDGFRA3.45279741
5NTRK13.01267370
6EPHB22.75432781
7TRIB32.70981654
8RIPK12.41295106
9BMX2.18326477
10PKN22.17744237
11SIK12.14099100
12DMPK2.10298686
13MST1R2.09539670
14TRPM71.97770361
15PAK21.95425318
16STK31.87771786
17CAMK1D1.82665879
18FGFR11.81568078
19FGFR21.80715562
20MET1.79260794
21FER1.77444579
22PIK3CA1.76784637
23EPHA31.75690351
24TIE11.68168468
25TGFBR21.60978473
26NUAK11.60184776
27ZAK1.51221264
28EPHA21.49602703
29MYLK1.49075911
30LATS21.41649330
31PDGFRB1.39626582
32PTK21.38670019
33FRK1.38457978
34PNCK1.25998151
35NEK91.24868230
36CAMK1G1.23423775
37STK38L1.22493022
38PTK61.16704443
39RPS6KA41.12354990
40PAK31.09053576
41ROCK11.06484751
42EEF2K1.01054859
43ERN11.00503633
44MAPKAPK30.96191968
45MTOR0.95852851
46LRRK20.94531009
47PAK40.91470224
48PTK2B0.88478470
49GRK70.86517753
50ARAF0.85234458
51MOS0.83280529
52MAP3K60.80683953
53RPS6KA20.78573164
54JAK10.77729080
55ILK0.76268610
56AKT30.75494631
57ERBB30.74703869
58CDK120.74039333
59PAK60.73044231
60PRKCH0.71425255
61TGFBR10.69999526
62PRKD20.67884295
63EPHB10.67790903
64FLT30.67304506
65MKNK10.67245687
66GSK3A0.67191611
67CDC42BPA0.66581590
68INSR0.66254818
69ICK0.64965333
70GRK50.63237111
71MAP2K10.63225872
72PIK3CG0.62194150
73FGFR30.60969855
74MAP3K100.60314706
75EIF2AK20.59636114
76PIM20.59558663
77ABL20.58670364
78MAP3K30.58445621
79MAPK70.57898491
80IGF1R0.56087148
81SCYL20.55855540
82CDK60.54038788
83STK100.52968987
84ROCK20.48923038
85KSR20.48261243
86PRKD10.48000923
87PAK10.47502657
88PRKG20.47384905
89PRKCE0.47351036
90LIMK10.47293772
91KSR10.43665904
92STK380.42444853
93NLK0.42034228
94PLK20.40867457
95CLK10.40308004
96MAP2K30.40041141
97CDK80.37588263
98SRC0.36374870
99CHUK0.35995295
100MAP3K70.35643334
101ADRBK10.35450680
102EIF2AK10.35146345
103CAMK2D0.34755145
104OBSCN0.34665489
105KIT0.34266196
106CDK90.34208721
107STK240.34168515
108TESK10.32117002
109CSK0.31966934
110WNK10.31948911
111PRKAA20.31780817
112MAPK10.31103178
113INSRR0.30713984
114FGFR40.29943790
115RAF10.29875075
116DAPK30.29536963
117CAMK2G0.29332687
118MAPKAPK20.29204495
119STK40.28505219
120MELK0.28309265
121PRKD30.27927061
122ERBB20.27648991
123HCK0.27455953
124LMTK20.27242364
125RET0.26559887
126RPS6KC10.26257747
127RPS6KL10.26257747
128CDK70.26176668
129ERBB40.25659511
130CAMK40.25279720
131ZAP700.22857537
132TNIK0.22316409

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.02993097
2Focal adhesion_Homo sapiens_hsa045103.00618892
3Basal cell carcinoma_Homo sapiens_hsa052172.55106492
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.49737429
5Proteoglycans in cancer_Homo sapiens_hsa052052.49384010
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.42733614
7Dilated cardiomyopathy_Homo sapiens_hsa054142.38677423
8Adherens junction_Homo sapiens_hsa045202.34781092
9Malaria_Homo sapiens_hsa051442.22971241
10Small cell lung cancer_Homo sapiens_hsa052222.18332262
11Amoebiasis_Homo sapiens_hsa051462.14136182
12* TGF-beta signaling pathway_Homo sapiens_hsa043501.99541307
13AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.98258730
14MicroRNAs in cancer_Homo sapiens_hsa052061.90291025
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.89404332
16Hedgehog signaling pathway_Homo sapiens_hsa043401.87842086
17Hippo signaling pathway_Homo sapiens_hsa043901.87713125
18Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.77338258
19Protein digestion and absorption_Homo sapiens_hsa049741.72351797
20Melanoma_Homo sapiens_hsa052181.70514775
21Regulation of actin cytoskeleton_Homo sapiens_hsa048101.65348400
22Staphylococcus aureus infection_Homo sapiens_hsa051501.57253528
23Viral myocarditis_Homo sapiens_hsa054161.57210180
24PI3K-Akt signaling pathway_Homo sapiens_hsa041511.56300078
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.54006659
26Chronic myeloid leukemia_Homo sapiens_hsa052201.52383876
27Bladder cancer_Homo sapiens_hsa052191.48837634
28Leukocyte transendothelial migration_Homo sapiens_hsa046701.44247258
29Pathways in cancer_Homo sapiens_hsa052001.41308492
30Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.35824770
31Other glycan degradation_Homo sapiens_hsa005111.35634126
32Prostate cancer_Homo sapiens_hsa052151.29605816
33Wnt signaling pathway_Homo sapiens_hsa043101.27144516
34Glycosaminoglycan degradation_Homo sapiens_hsa005311.23549100
35Rap1 signaling pathway_Homo sapiens_hsa040151.19291294
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.16252267
37Platelet activation_Homo sapiens_hsa046111.15733994
38Toxoplasmosis_Homo sapiens_hsa051451.10794244
39Axon guidance_Homo sapiens_hsa043601.08159016
40p53 signaling pathway_Homo sapiens_hsa041151.08037448
41Ovarian steroidogenesis_Homo sapiens_hsa049131.07905525
42Complement and coagulation cascades_Homo sapiens_hsa046101.05262453
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.04081765
44HTLV-I infection_Homo sapiens_hsa051661.03143605
45Pancreatic cancer_Homo sapiens_hsa052121.01496721
46Thyroid cancer_Homo sapiens_hsa052160.99266424
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.97332656
48TNF signaling pathway_Homo sapiens_hsa046680.97275554
49Tight junction_Homo sapiens_hsa045300.96551623
50Pertussis_Homo sapiens_hsa051330.95669805
51Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.91452767
52Leishmaniasis_Homo sapiens_hsa051400.91157144
53Shigellosis_Homo sapiens_hsa051310.90959893
54Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.90470922
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.88174200
56Glioma_Homo sapiens_hsa052140.84223357
57Arachidonic acid metabolism_Homo sapiens_hsa005900.83207025
58Colorectal cancer_Homo sapiens_hsa052100.79093384
59Notch signaling pathway_Homo sapiens_hsa043300.79060703
60Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.78692566
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.77942693
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.77938077
63Lysine degradation_Homo sapiens_hsa003100.77056806
64Salmonella infection_Homo sapiens_hsa051320.76509999
65Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.73223984
66Melanogenesis_Homo sapiens_hsa049160.72295176
67Dorso-ventral axis formation_Homo sapiens_hsa043200.69410003
68Phagosome_Homo sapiens_hsa041450.69016352
69Hepatitis B_Homo sapiens_hsa051610.67584933
70Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66915327
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64290635
72Viral carcinogenesis_Homo sapiens_hsa052030.63165107
73Ras signaling pathway_Homo sapiens_hsa040140.62652090
74MAPK signaling pathway_Homo sapiens_hsa040100.62169287
75Endometrial cancer_Homo sapiens_hsa052130.60461870
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.60371764
77Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.59690726
78HIF-1 signaling pathway_Homo sapiens_hsa040660.58614830
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.57444080
80cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56008738
81Non-small cell lung cancer_Homo sapiens_hsa052230.55241538
82Choline metabolism in cancer_Homo sapiens_hsa052310.55204660
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54355013
84Apoptosis_Homo sapiens_hsa042100.53384312
85GnRH signaling pathway_Homo sapiens_hsa049120.52574270
86FoxO signaling pathway_Homo sapiens_hsa040680.52297119
87Cell cycle_Homo sapiens_hsa041100.51814612
88Jak-STAT signaling pathway_Homo sapiens_hsa046300.51572129
89VEGF signaling pathway_Homo sapiens_hsa043700.51495212
90Renal cell carcinoma_Homo sapiens_hsa052110.51221868
91Vibrio cholerae infection_Homo sapiens_hsa051100.49447839
92Thyroid hormone synthesis_Homo sapiens_hsa049180.48945497
93Osteoclast differentiation_Homo sapiens_hsa043800.48887211
94AMPK signaling pathway_Homo sapiens_hsa041520.48816592
95Insulin signaling pathway_Homo sapiens_hsa049100.46382379
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.45060382
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44158186
98Hematopoietic cell lineage_Homo sapiens_hsa046400.43829022
99Pancreatic secretion_Homo sapiens_hsa049720.43503658
100Acute myeloid leukemia_Homo sapiens_hsa052210.43470303
101Gap junction_Homo sapiens_hsa045400.42626800
102Galactose metabolism_Homo sapiens_hsa000520.42206248
103Renin secretion_Homo sapiens_hsa049240.41924801
104Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41876994
105mTOR signaling pathway_Homo sapiens_hsa041500.41462532
106cAMP signaling pathway_Homo sapiens_hsa040240.41356296
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.39261930
108Prion diseases_Homo sapiens_hsa050200.39221581
109Insulin resistance_Homo sapiens_hsa049310.39083938
110Calcium signaling pathway_Homo sapiens_hsa040200.38523815
111NF-kappa B signaling pathway_Homo sapiens_hsa040640.37590405
112Tuberculosis_Homo sapiens_hsa051520.36869024
113ErbB signaling pathway_Homo sapiens_hsa040120.36632274
114Systemic lupus erythematosus_Homo sapiens_hsa053220.36510906
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35999757
116Prolactin signaling pathway_Homo sapiens_hsa049170.35835146
117Endocytosis_Homo sapiens_hsa041440.35714620
118Estrogen signaling pathway_Homo sapiens_hsa049150.35202637
119Oxytocin signaling pathway_Homo sapiens_hsa049210.34543687
120Renin-angiotensin system_Homo sapiens_hsa046140.34430397
121Cocaine addiction_Homo sapiens_hsa050300.34252822
122Sphingolipid signaling pathway_Homo sapiens_hsa040710.34102012
123Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34065828
124Legionellosis_Homo sapiens_hsa051340.33955090
125N-Glycan biosynthesis_Homo sapiens_hsa005100.33146046
126Glucagon signaling pathway_Homo sapiens_hsa049220.31537235
127Pentose phosphate pathway_Homo sapiens_hsa000300.29852107

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