COL6A1

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 collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* protein heterotrimerization (GO:0070208)8.42361916
2collagen fibril organization (GO:0030199)7.32242938
3bone trabecula formation (GO:0060346)5.91368870
4* collagen metabolic process (GO:0032963)5.38800252
5skin morphogenesis (GO:0043589)5.37155862
6* collagen catabolic process (GO:0030574)5.33732322
7* multicellular organismal macromolecule metabolic process (GO:0044259)5.10780083
8sequestering of extracellular ligand from receptor (GO:0035581)4.94712031
9chondrocyte proliferation (GO:0035988)4.94275628
10* multicellular organismal catabolic process (GO:0044243)4.92228944
11extracellular fibril organization (GO:0043206)4.87747742
12* multicellular organismal metabolic process (GO:0044236)4.83641988
13regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.61164155
14type B pancreatic cell proliferation (GO:0044342)4.50034160
15* extracellular matrix disassembly (GO:0022617)4.44144396
16* endodermal cell differentiation (GO:0035987)4.35962309
17adhesion of symbiont to host cell (GO:0044650)4.35695891
18virion attachment to host cell (GO:0019062)4.35695891
19fibril organization (GO:0097435)4.28745105
20cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.26111968
21neuron projection extension involved in neuron projection guidance (GO:1902284)4.23637771
22axon extension involved in axon guidance (GO:0048846)4.23637771
23keratan sulfate catabolic process (GO:0042340)4.22929802
24tooth mineralization (GO:0034505)4.09882795
25basement membrane organization (GO:0071711)4.08989677
26extracellular matrix assembly (GO:0085029)3.93179252
27negative regulation of smooth muscle cell migration (GO:0014912)3.86070283
28metanephric mesenchyme development (GO:0072075)3.77837449
29adhesion of symbiont to host (GO:0044406)3.77449830
30apoptotic cell clearance (GO:0043277)3.74208052
31negative regulation of fatty acid transport (GO:2000192)3.69663366
32dermatan sulfate biosynthetic process (GO:0030208)3.67481579
33negative regulation of chondrocyte differentiation (GO:0032331)3.66731895
34barbed-end actin filament capping (GO:0051016)3.63401441
35protein retention in ER lumen (GO:0006621)3.62348542
36kidney mesenchyme development (GO:0072074)3.57129489
37retina vasculature morphogenesis in camera-type eye (GO:0061299)3.57117646
38plasma membrane repair (GO:0001778)3.56704197
39vascular endothelial growth factor signaling pathway (GO:0038084)3.51336060
40positive regulation of endothelial cell apoptotic process (GO:2000353)3.49365102
41maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.45962420
42outer ear morphogenesis (GO:0042473)3.45268043
43planar cell polarity pathway involved in neural tube closure (GO:0090179)3.39983990
44regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.39209548
45peptidyl-proline hydroxylation (GO:0019511)3.39178427
46cellular response to vitamin (GO:0071295)3.37644834
47mesenchymal-epithelial cell signaling (GO:0060638)3.36402207
48glomerular basement membrane development (GO:0032836)3.36008387
49substrate-dependent cell migration (GO:0006929)3.35489760
50insulin-like growth factor receptor signaling pathway (GO:0048009)3.34046015
51dermatan sulfate metabolic process (GO:0030205)3.30585150
52positive regulation of blood vessel endothelial cell migration (GO:0043536)3.28398114
53epithelial cell-cell adhesion (GO:0090136)3.28362164
54peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.27090205
55negative regulation of cartilage development (GO:0061037)3.26266826
56* extracellular matrix organization (GO:0030198)3.24880288
57* extracellular structure organization (GO:0043062)3.23679576
58regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.22960980
59positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.22839320
60gonadal mesoderm development (GO:0007506)3.21460748
61anatomical structure regression (GO:0060033)3.20701100
62cell proliferation involved in metanephros development (GO:0072203)3.17923170
63craniofacial suture morphogenesis (GO:0097094)3.13295836
64chondrocyte development (GO:0002063)3.11923160
65regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.11369344
66glomerular filtration (GO:0003094)3.08977207
67regulation of extracellular matrix disassembly (GO:0010715)3.08871411
68negative regulation of catenin import into nucleus (GO:0035414)3.08215843
69protein hydroxylation (GO:0018126)3.06077961
70cell migration involved in sprouting angiogenesis (GO:0002042)3.03513775
71endothelial cell morphogenesis (GO:0001886)3.03311395
72cell migration involved in heart development (GO:0060973)3.03186647
73embryonic cranial skeleton morphogenesis (GO:0048701)3.02866712
74trabecula formation (GO:0060343)3.00576744
75cell adhesion mediated by integrin (GO:0033627)2.99742029
76heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.99543839
77wound healing, spreading of epidermal cells (GO:0035313)2.99095266
78blood vessel maturation (GO:0001955)2.97789730
79muscle cell migration (GO:0014812)2.96761654
80stress fiber assembly (GO:0043149)2.94665799
81positive regulation of mesenchymal cell proliferation (GO:0002053)2.94176154
82adherens junction assembly (GO:0034333)2.93816913
83glial cell migration (GO:0008347)2.93236927
84venous blood vessel morphogenesis (GO:0048845)2.93189677
85G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.92820714
86cardiac myofibril assembly (GO:0055003)2.92745266
87positive regulation of epithelial to mesenchymal transition (GO:0010718)2.91610314
88cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.91418937
89* cellular response to amino acid stimulus (GO:0071230)2.89223111
90endocardial cushion development (GO:0003197)2.88016829
91renal filtration (GO:0097205)2.87525511
92hippo signaling (GO:0035329)2.87078187
93cochlea morphogenesis (GO:0090103)2.85200445
94chondroitin sulfate biosynthetic process (GO:0030206)2.85048249
95positive regulation of extracellular matrix organization (GO:1903055)2.84034953
96cellular response to vitamin D (GO:0071305)2.83342925
97positive regulation of fatty acid beta-oxidation (GO:0032000)2.82763148
98middle ear morphogenesis (GO:0042474)2.81994109
99positive regulation of osteoblast proliferation (GO:0033690)2.81488327
100negative regulation of BMP signaling pathway (GO:0030514)2.81246090
101vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.79593644
102Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.79162001
103replacement ossification (GO:0036075)2.78074384
104endochondral ossification (GO:0001958)2.78074384
105regulation of plasminogen activation (GO:0010755)2.77771645
106protein localization to endosome (GO:0036010)2.77584080
107regulation of tight junction assembly (GO:2000810)2.77417763
108cellular response to interferon-alpha (GO:0035457)2.77276488
109focal adhesion assembly (GO:0048041)2.75608196
110cell-substrate adherens junction assembly (GO:0007045)2.75608196
111positive regulation of glycogen biosynthetic process (GO:0045725)2.73609844
112polarized epithelial cell differentiation (GO:0030859)2.72087975
113protein localization to cell surface (GO:0034394)2.70284427
114regulation of smooth muscle cell migration (GO:0014910)2.70166339
115hemidesmosome assembly (GO:0031581)2.69104269
116extracellular negative regulation of signal transduction (GO:1900116)2.68527759
117extracellular regulation of signal transduction (GO:1900115)2.68527759
118positive regulation of axon extension (GO:0045773)2.67195043
119dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.66256490
120regulation of establishment of planar polarity (GO:0090175)2.66154068
121regulation of mesenchymal cell proliferation (GO:0010464)2.64476719
122cell-substrate junction assembly (GO:0007044)2.63761871
123smooth muscle tissue development (GO:0048745)2.63700192
124* protein trimerization (GO:0070206)2.62779159
125negative regulation of embryonic development (GO:0045992)2.62704915
126regulation of cartilage development (GO:0061035)2.61911020
127negative regulation of axon extension involved in axon guidance (GO:0048843)2.61837675
128face morphogenesis (GO:0060325)2.59735768
129regulation of gastrulation (GO:0010470)2.59565596
130paraxial mesoderm development (GO:0048339)2.59563520
131cell proliferation involved in kidney development (GO:0072111)2.59451624
132positive regulation of receptor recycling (GO:0001921)2.58958897
133substrate adhesion-dependent cell spreading (GO:0034446)2.58859410
134regulation of axon extension involved in axon guidance (GO:0048841)2.58111509
135chondroitin sulfate catabolic process (GO:0030207)2.57309089
136cell-matrix adhesion (GO:0007160)2.56213499
137heart morphogenesis (GO:0003007)2.53453571
138Golgi transport vesicle coating (GO:0048200)2.53224284
139COPI coating of Golgi vesicle (GO:0048205)2.53224284

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.41695586
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.84987819
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.20014490
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.70964127
5* CLOCK_20551151_ChIP-Seq_293T_Human3.34616520
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.06146057
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.93401491
8RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.76350909
9* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.72439280
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.64361714
11CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.43014501
12CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.37346608
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.30723894
14CJUN_26792858_Chip-Seq_BT549_Human2.17843544
15* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.08781054
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.05487965
17TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.98777833
18WT1_19549856_ChIP-ChIP_CCG9911_Human1.97905676
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.88805638
20* BRD4_25478319_ChIP-Seq_HGPS_Human1.82215438
21ELK3_25401928_ChIP-Seq_HUVEC_Human1.78674481
22HIF1A_21447827_ChIP-Seq_MCF-7_Human1.78045264
23RNF2_18974828_ChIP-Seq_MESCs_Mouse1.76404147
24EZH2_18974828_ChIP-Seq_MESCs_Mouse1.76404147
25EED_16625203_ChIP-ChIP_MESCs_Mouse1.75749842
26STAT6_21828071_ChIP-Seq_BEAS2B_Human1.74159162
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.70924054
28ESR1_21235772_ChIP-Seq_MCF-7_Human1.70657745
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.68755269
30NRF2_20460467_ChIP-Seq_MEFs_Mouse1.55634219
31NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.55634219
32P300_27058665_Chip-Seq_ZR-75-30cells_Human1.54364695
33PPAR_26484153_Chip-Seq_NCI-H1993_Human1.52617381
34SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.51466300
35EGR1_19374776_ChIP-ChIP_THP-1_Human1.51106141
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.50180108
37TBX20_22328084_ChIP-Seq_HEART_Mouse1.49018262
38TBX20_22080862_ChIP-Seq_HEART_Mouse1.49018262
39SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.47033791
40STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.46821748
41SOX9_24532713_ChIP-Seq_HFSC_Mouse1.46793658
42KDM2B_26808549_Chip-Seq_SUP-B15_Human1.45733788
43SMC1_22415368_ChIP-Seq_MEFs_Mouse1.44510657
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42137504
45TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.41177682
46TP53_20018659_ChIP-ChIP_R1E_Mouse1.39516453
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.37788703
48DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.36971756
49SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.36600734
50SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.34756053
51* KDM2B_26808549_Chip-Seq_K562_Human1.31952412
52UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.31612274
53ISL1_27105846_Chip-Seq_CPCs_Mouse1.29756644
54UBF1/2_26484160_Chip-Seq_HMECs_Human1.27849207
55ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.26473289
56JARID2_20075857_ChIP-Seq_MESCs_Mouse1.25164642
57NFIB_24661679_ChIP-Seq_LUNG_Mouse1.24310482
58RACK7_27058665_Chip-Seq_MCF-7_Human1.23599481
59TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.23520116
60JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.22114451
61TP53_22127205_ChIP-Seq_IMR90_Human1.21732124
62TP53_18474530_ChIP-ChIP_U2OS_Human1.21259311
63KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.20832067
64ERG_21242973_ChIP-ChIP_JURKAT_Human1.20486312
65ESR1_20079471_ChIP-ChIP_T-47D_Human1.20313113
66SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.19958011
67LXR_22292898_ChIP-Seq_THP-1_Human1.19937011
68SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.19071071
69SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.19071071
70ATF3_27146783_Chip-Seq_COLON_Human1.18851513
71TP53_16413492_ChIP-PET_HCT116_Human1.16639151
72DROSHA_22980978_ChIP-Seq_HELA_Human1.16057701
73SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.15594667
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13916881
75* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13800394
76WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13692580
77TET1_21490601_ChIP-Seq_MESCs_Mouse1.13687999
78ZFP281_27345836_Chip-Seq_ESCs_Mouse1.13605575
79HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.13204493
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.12728435
81RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12509220
82* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10911808
83* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10814887
84SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.10207260
85ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.10054240
86SMAD_19615063_ChIP-ChIP_OVARY_Human1.10051997
87EZH2_27304074_Chip-Seq_ESCs_Mouse1.09917409
88EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09557194
89KDM2B_26808549_Chip-Seq_DND41_Human1.09211680
90PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.08973762
91FOXO3_23340844_ChIP-Seq_DLD1_Human1.08449874
92FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08034478
93TP53_23651856_ChIP-Seq_MEFs_Mouse1.07744727
94MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07717982
95ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.06270388
96POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.06264276
97RNF2_27304074_Chip-Seq_ESCs_Mouse1.05322035
98THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.04406367
99KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.03636322
100SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.03399972
101GATA2_21666600_ChIP-Seq_HMVEC_Human1.03271479
102* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.01799593
103* SOX2_20726797_ChIP-Seq_SW620_Human1.01371902
104* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.99858749
105P63_26484246_Chip-Seq_KERATINOCYTES_Human0.99841669
106NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99818724
107SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99575950
108NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99468305
109* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.98840747
110JARID2_20064375_ChIP-Seq_MESCs_Mouse0.97096355
111ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.96995170
112* KDM2B_26808549_Chip-Seq_JURKAT_Human0.95607379
113RUNX1_27514584_Chip-Seq_MCF-7_Human0.95465920
114* SA1_22415368_ChIP-Seq_MEFs_Mouse0.94397674
115MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.93669794
116ZNF263_19887448_ChIP-Seq_K562_Human0.93665237
117KLF5_25053715_ChIP-Seq_YYC3_Human0.93638768

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.18911101
2MP0005275_abnormal_skin_tensile6.08646027
3MP0005503_abnormal_tendon_morphology5.79675765
4MP0003705_abnormal_hypodermis_morpholog4.06899281
5MP0003279_aneurysm3.43418298
6MP0001958_emphysema3.37849830
7MP0004272_abnormal_basement_membrane3.14151548
8MP0006054_spinal_hemorrhage2.50697547
9MP0005623_abnormal_meninges_morphology2.43524001
10MP0002060_abnormal_skin_morphology2.30620074
11MP0005508_abnormal_skeleton_morphology2.22870485
12MP0009384_cardiac_valve_regurgitation2.08275620
13MP0005257_abnormal_intraocular_pressure2.03307043
14* MP0002108_abnormal_muscle_morphology1.85330597
15MP0004858_abnormal_nervous_system1.73804833
16MP0000013_abnormal_adipose_tissue1.72665555
17MP0003566_abnormal_cell_adhesion1.67724350
18MP0003283_abnormal_digestive_organ1.62629185
19MP0009250_abnormal_appendicular_skeleto1.61891191
20MP0002896_abnormal_bone_mineralization1.60633286
21MP0010030_abnormal_orbit_morphology1.56557242
22MP0001243_abnormal_dermal_layer1.55077631
23MP0003385_abnormal_body_wall1.49823826
24MP0003950_abnormal_plasma_membrane1.49638345
25MP0005023_abnormal_wound_healing1.46403518
26MP0001542_abnormal_bone_strength1.45996349
27MP0002295_abnormal_pulmonary_circulatio1.45000816
28MP0004134_abnormal_chest_morphology1.43819640
29MP0003091_abnormal_cell_migration1.41514497
30MP0000733_abnormal_muscle_development1.36597517
31* MP0000751_myopathy1.34751966
32MP0002282_abnormal_trachea_morphology1.32282339
33MP0000003_abnormal_adipose_tissue1.25966317
34MP0003045_fibrosis1.20970922
35MP0001299_abnormal_eye_distance/1.20568622
36MP0000767_abnormal_smooth_muscle1.20308284
37MP0002115_abnormal_skeleton_extremities1.19274339
38MP0005390_skeleton_phenotype1.19246917
39MP0000163_abnormal_cartilage_morphology1.18245473
40MP0000428_abnormal_craniofacial_morphol1.16585600
41MP0002933_joint_inflammation1.16386440
42MP0000534_abnormal_ureter_morphology1.13661669
43MP0003115_abnormal_respiratory_system1.11959286
44MP0005076_abnormal_cell_differentiation1.10198035
45MP0004185_abnormal_adipocyte_glucose1.09449389
46MP0002932_abnormal_joint_morphology1.05321871
47MP0002168_other_aberrant_phenotype1.04545649
48MP0000750_abnormal_muscle_regeneration1.03167696
49MP0002837_dystrophic_cardiac_calcinosis1.02356752
50MP0005375_adipose_tissue_phenotype1.01152280
51MP0001348_abnormal_lacrimal_gland0.99787734
52MP0002249_abnormal_larynx_morphology0.99625318
53MP0002254_reproductive_system_inflammat0.99165240
54MP0010352_gastrointestinal_tract_polyps0.94588724
55MP0009780_abnormal_chondrocyte_physiolo0.93131680
56MP0002113_abnormal_skeleton_development0.90253474
57MP0002998_abnormal_bone_remodeling0.90095550
58MP0003942_abnormal_urinary_system0.89733132
59MP0005670_abnormal_white_adipose0.86726055
60MP0005666_abnormal_adipose_tissue0.85766579
61MP0004087_abnormal_muscle_fiber0.84373397
62MP0002089_abnormal_postnatal_growth/wei0.84312995
63MP0000049_abnormal_middle_ear0.83451930
64MP0004084_abnormal_cardiac_muscle0.82930289
65MP0003755_abnormal_palate_morphology0.82575584
66MP0010386_abnormal_urinary_bladder0.80391952
67MP0010368_abnormal_lymphatic_system0.79761163
68MP0000462_abnormal_digestive_system0.78423829
69MP0002877_abnormal_melanocyte_morpholog0.78273157
70MP0003448_altered_tumor_morphology0.78028838
71MP0009278_abnormal_bone_marrow0.76734823
72MP0000762_abnormal_tongue_morphology0.76571914
73MP0002109_abnormal_limb_morphology0.76097043
74MP0009053_abnormal_anal_canal0.75994863
75* MP0000759_abnormal_skeletal_muscle0.75968051
76MP0002128_abnormal_blood_circulation0.75731957
77MP0003935_abnormal_craniofacial_develop0.75244683
78MP0001915_intracranial_hemorrhage0.73726769
79MP0003122_maternal_imprinting0.73232530
80MP0006138_congestive_heart_failure0.72974575
81MP0004130_abnormal_muscle_cell0.72842382
82MP0002116_abnormal_craniofacial_bone0.71661670
83MP0005171_absent_coat_pigmentation0.71583939
84MP0001614_abnormal_blood_vessel0.71161616
85MP0002133_abnormal_respiratory_system0.70992790
86MP0005388_respiratory_system_phenotype0.70992790
87* MP0005369_muscle_phenotype0.70534582
88MP0005595_abnormal_vascular_smooth0.69877150
89MP0005197_abnormal_uvea_morphology0.69126240
90MP0003300_gastrointestinal_ulcer0.68608922
91MP0000432_abnormal_head_morphology0.68472749
92MP0003795_abnormal_bone_structure0.68342364
93MP0009840_abnormal_foam_cell0.67576149
94MP0001849_ear_inflammation0.67475607
95MP0000749_muscle_degeneration0.66557562
96MP0001533_abnormal_skeleton_physiology0.66159874
97MP0005409_darkened_coat_color0.65208873
98MP0001879_abnormal_lymphatic_vessel0.64987811
99MP0005058_abnormal_lysosome_morphology0.64636907
100MP0010771_integument_phenotype0.64386185
101MP0001177_atelectasis0.63743966
102MP0001175_abnormal_lung_morphology0.62980221
103MP0000537_abnormal_urethra_morphology0.62920866
104MP0003941_abnormal_skin_development0.62541382
105MP0002233_abnormal_nose_morphology0.62367284
106MP0002111_abnormal_tail_morphology0.60632375
107MP0002925_abnormal_cardiovascular_devel0.60388040
108MP0005164_abnormal_response_to0.59668359
109MP0005330_cardiomyopathy0.58440399
110MP0005165_increased_susceptibility_to0.58087624
111MP0002114_abnormal_axial_skeleton0.57723060
112MP0010630_abnormal_cardiac_muscle0.57357576
113MP0004510_myositis0.54929257
114MP0000467_abnormal_esophagus_morphology0.53373242
115MP0000858_altered_metastatic_potential0.51048698

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.29460486
2Premature rupture of membranes (HP:0001788)7.57499398
3* Ankle contracture (HP:0006466)6.10822582
4Aortic dissection (HP:0002647)5.33073582
5Atrophic scars (HP:0001075)4.92451032
6Broad metatarsal (HP:0001783)4.86066163
7Soft skin (HP:0000977)4.67106311
8Shallow orbits (HP:0000586)4.48301518
9* Type 1 muscle fiber predominance (HP:0003803)4.45997734
10* Follicular hyperkeratosis (HP:0007502)4.41697778
11Bladder diverticulum (HP:0000015)4.38902677
12Neonatal short-limb short stature (HP:0008921)4.33871127
13Peritonitis (HP:0002586)4.32887528
14Increased connective tissue (HP:0009025)4.30926977
15Cerebral aneurysm (HP:0004944)4.29820141
16Fragile skin (HP:0001030)4.21571242
17Dilatation of the ascending aorta (HP:0005111)3.84460600
18Abnormality of dentin (HP:0010299)3.79185032
19Aortic aneurysm (HP:0004942)3.76998489
20Mitral valve prolapse (HP:0001634)3.73641387
21Genu recurvatum (HP:0002816)3.59279121
22* Spinal rigidity (HP:0003306)3.52500788
23Cervical subluxation (HP:0003308)3.50935701
24* Slender build (HP:0001533)3.44451570
25Blue sclerae (HP:0000592)3.19113363
26Wormian bones (HP:0002645)3.17128801
27Biconcave vertebral bodies (HP:0004586)3.12307111
28Wrist flexion contracture (HP:0001239)3.02579905
29* Mildly elevated creatine phosphokinase (HP:0008180)2.99630055
30* Increased variability in muscle fiber diameter (HP:0003557)2.98131989
31Vertebral compression fractures (HP:0002953)2.88831918
32Hyperextensible skin (HP:0000974)2.88524750
33Bowel diverticulosis (HP:0005222)2.87674432
34* Joint laxity (HP:0001388)2.58403798
35* Abnormality of skeletal muscle fiber size (HP:0012084)2.56190522
36Abnormal delivery (HP:0001787)2.50009431
37Infantile muscular hypotonia (HP:0008947)2.46453687
38Osteoarthritis (HP:0002758)2.45314406
39Osteolytic defects of the phalanges of the hand (HP:0009771)2.43782337
40Osteolytic defects of the hand bones (HP:0009699)2.43782337
41Abnormality of the acetabulum (HP:0003170)2.42284641
42Aneurysm (HP:0002617)2.39955303
43Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.39863214
44Short 4th metacarpal (HP:0010044)2.39863214
45Striae distensae (HP:0001065)2.39772319
46Wide anterior fontanel (HP:0000260)2.39496738
47Ectopia lentis (HP:0001083)2.38754494
48Deviation of the hallux (HP:0010051)2.38304038
49Mild short stature (HP:0003502)2.37683887
50Vascular tortuosity (HP:0004948)2.34968851
51* Elbow flexion contracture (HP:0002987)2.33623714
52Joint stiffness (HP:0001387)2.32064658
53Hallux valgus (HP:0001822)2.31385544
54Overgrowth (HP:0001548)2.31035467
55Ulnar bowing (HP:0003031)2.30210878
56Thin bony cortex (HP:0002753)2.23740968
57Aortic valve stenosis (HP:0001650)2.23168544
58Broad ribs (HP:0000885)2.20628874
59Nonimmune hydrops fetalis (HP:0001790)2.18982499
60Mesomelia (HP:0003027)2.18614708
61Breech presentation (HP:0001623)2.18574916
62Mitral regurgitation (HP:0001653)2.17279075
63Venous abnormality (HP:0002624)2.16081664
64Abnormality of the Achilles tendon (HP:0005109)2.14923446
65Arterial tortuosity (HP:0005116)2.14563198
66Aortic regurgitation (HP:0001659)2.13124143
67Venous insufficiency (HP:0005293)2.11877457
68Abnormality of the peritoneum (HP:0002585)2.08185149
69Thoracolumbar scoliosis (HP:0002944)2.07600940
70Buphthalmos (HP:0000557)2.05713707
71Tibial bowing (HP:0002982)2.05016375
72Premature skin wrinkling (HP:0100678)2.05006656
73Natal tooth (HP:0000695)2.04979370
74Abnormality of the 4th metacarpal (HP:0010012)2.04634831
75Bell-shaped thorax (HP:0001591)2.04588240
76Long toe (HP:0010511)2.02835924
77Flat cornea (HP:0007720)2.02617926
78Camptodactyly of toe (HP:0001836)2.02426205
79Upper limb amyotrophy (HP:0009129)2.01837290
80Distal upper limb amyotrophy (HP:0007149)2.01837290
81Round ear (HP:0100830)2.01610650
82Muscle fiber splitting (HP:0003555)1.99769285
83Hypoplastic ischia (HP:0003175)1.99197105
84Femoral bowing (HP:0002980)1.96690516
85Spondylolisthesis (HP:0003302)1.96009702
86Broad long bones (HP:0005622)1.94519809
87Alopecia of scalp (HP:0002293)1.94217044
88Obstructive sleep apnea (HP:0002870)1.93193445
89Short nail (HP:0001799)1.90860164
90Disproportionate tall stature (HP:0001519)1.89531311
91Hip contracture (HP:0003273)1.88637095
92Hyperacusis (HP:0010780)1.88552082
93Renal duplication (HP:0000075)1.87997533
94Morphological abnormality of the middle ear (HP:0008609)1.87627022
95Redundant skin (HP:0001582)1.86403093
96Delayed cranial suture closure (HP:0000270)1.84532516
97Mitral stenosis (HP:0001718)1.84236915
98Inguinal hernia (HP:0000023)1.83624999
99Narrow nasal bridge (HP:0000446)1.82355004
100Abnormality of skull ossification (HP:0002703)1.80615462
101Platyspondyly (HP:0000926)1.80458249
102* Hypoventilation (HP:0002791)1.80039448
103Achilles tendon contracture (HP:0001771)1.79682562
104Knee flexion contracture (HP:0006380)1.78991787
105Turricephaly (HP:0000262)1.78273118
106Thin skin (HP:0000963)1.78200610
107* Generalized amyotrophy (HP:0003700)1.77712842
108Ovoid vertebral bodies (HP:0003300)1.76836481
109Coxa vara (HP:0002812)1.76714070
110* Protruding ear (HP:0000411)1.76257489
111Renovascular hypertension (HP:0100817)1.75530814
112Cupped ribs (HP:0000887)1.75105361
113Abnormality of the ischium (HP:0003174)1.74945317
114Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.71862836
115* Limb-girdle muscle weakness (HP:0003325)1.71744006
116Delayed closure of the anterior fontanelle (HP:0001476)1.71353093
117Bowed forearm bones (HP:0003956)1.70806227
118Bowing of the arm (HP:0006488)1.70806227
119Osteopenia (HP:0000938)1.68812674
120Coronal craniosynostosis (HP:0004440)1.68730516
121Decreased skull ossification (HP:0004331)1.68512772
122Distal lower limb amyotrophy (HP:0008944)1.68225946
123Joint contractures involving the joints of the feet (HP:0100492)1.67372064

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.07273532
2TRIB34.95125067
3PDGFRA4.24939903
4TTN4.10828110
5SIK13.21803865
6PKN23.00969684
7RIPK12.74753645
8LATS12.59766798
9ERN12.59577044
10LATS22.54017628
11EPHB22.07766062
12MYLK1.81786377
13PAK21.81611854
14EEF2K1.69507642
15EPHA31.65617631
16DMPK1.65354731
17TGFBR21.63194270
18PDGFRB1.57039285
19CAMK1D1.56379304
20FER1.55385813
21BMX1.54228164
22FGFR21.54015862
23PTK61.53594282
24AKT31.38085308
25TRPM71.36818106
26PTK21.34045326
27MET1.33002291
28MAP3K61.31804831
29FGFR11.24177384
30PTK2B1.22154438
31CAMK1G1.12418949
32EPHB11.11525482
33STK31.11040085
34LMTK21.10594914
35ROCK11.09671165
36PAK41.09372556
37PRPF4B1.06613111
38LRRK21.06555839
39MAP3K101.06272405
40ILK1.04005537
41MTOR1.01351955
42PAK31.00818581
43FGFR40.96638198
44FRK0.95925693
45SMG10.92985288
46PRKD30.91153022
47NTRK10.87583703
48RET0.86495284
49MAPK70.86403571
50GRK50.85257905
51FLT30.82873224
52PIK3CA0.82557407
53PRKCH0.82491480
54ERBB40.79269616
55PRKD20.78004789
56TAOK20.77336866
57FGFR30.77085772
58MAP2K10.75755244
59ICK0.75194185
60MOS0.74440622
61JAK10.72630295
62DAPK30.72376898
63ROCK20.70827263
64PIM20.69409051
65PRKD10.67646928
66IRAK30.65548438
67MARK10.65460854
68RPS6KA40.65003069
69NEK90.64641784
70TYRO30.64549242
71PAK60.61825582
72ARAF0.61283800
73MAP3K30.59835080
74RPS6KL10.59355462
75RPS6KC10.59355462
76KIT0.59292378
77CAMKK10.57436643
78CDC42BPA0.56743177
79EPHA20.55720744
80MST1R0.51844534
81PDK30.51339568
82PDK40.51339568
83INSR0.49518754
84STK38L0.48553876
85CLK10.47095956
86CDK120.46522961
87GRK70.45745713
88SRC0.44062077
89MAPKAPK30.43079074
90MELK0.42231320
91MAP3K70.42199465
92CAMK2G0.41382584
93RPS6KA60.40635864
94PAK10.40601250
95WNK10.40328563
96TGFBR10.40193218
97CDK60.39752276
98MAPK40.39100830
99PDPK10.38259047
100SCYL20.37161340
101PLK20.37078922
102HIPK20.36520695
103ZAP700.36471976
104TESK10.35965768
105ADRBK10.35784439
106MAP3K130.35335876
107TAOK10.35327913
108KSR20.33546289
109ABL20.33387746
110GSK3A0.33134542
111TIE10.33127599
112CDK150.31903870
113PIK3CG0.31484757
114CDK11A0.31420440
115PRKG20.30460675
116MARK20.30282605
117PDK20.29991098
118MAPK10.29931403
119CAMKK20.27032102
120RPS6KA20.26911596
121STK380.26270313
122IGF1R0.23226371
123JAK30.22590406
124MAP2K30.22378088
125LIMK10.21736373
126ERBB30.20210293
127MAPKAPK20.19322757
128DYRK1B0.19273508

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045125.03626722
2* Protein digestion and absorption_Homo sapiens_hsa049743.62507257
3* Focal adhesion_Homo sapiens_hsa045103.29409544
4Amoebiasis_Homo sapiens_hsa051462.44720167
5AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.24428000
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.21361678
7Proteoglycans in cancer_Homo sapiens_hsa052052.18398939
8Dilated cardiomyopathy_Homo sapiens_hsa054141.97422851
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.88890682
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.87169489
11Basal cell carcinoma_Homo sapiens_hsa052171.86220252
12Adherens junction_Homo sapiens_hsa045201.83486364
13Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.82612837
14Small cell lung cancer_Homo sapiens_hsa052221.78057701
15Malaria_Homo sapiens_hsa051441.67371689
16Hedgehog signaling pathway_Homo sapiens_hsa043401.67111796
17Bladder cancer_Homo sapiens_hsa052191.65419336
18* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.64934511
19Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.59884984
20TGF-beta signaling pathway_Homo sapiens_hsa043501.59047440
21Hippo signaling pathway_Homo sapiens_hsa043901.45760977
22MicroRNAs in cancer_Homo sapiens_hsa052061.40028910
23Chronic myeloid leukemia_Homo sapiens_hsa052201.38356906
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.37670183
25Other glycan degradation_Homo sapiens_hsa005111.34090644
26Glioma_Homo sapiens_hsa052141.30426081
27Melanoma_Homo sapiens_hsa052181.28629887
28Central carbon metabolism in cancer_Homo sapiens_hsa052301.17485013
29Platelet activation_Homo sapiens_hsa046111.14088087
30Pathways in cancer_Homo sapiens_hsa052001.07907630
31Insulin resistance_Homo sapiens_hsa049311.07219696
32Regulation of actin cytoskeleton_Homo sapiens_hsa048101.06912099
33Prostate cancer_Homo sapiens_hsa052151.05710166
34Adipocytokine signaling pathway_Homo sapiens_hsa049201.02563580
35PPAR signaling pathway_Homo sapiens_hsa033201.02257815
36Viral myocarditis_Homo sapiens_hsa054160.99244250
37Toxoplasmosis_Homo sapiens_hsa051450.98438790
38Pancreatic cancer_Homo sapiens_hsa052120.94748530
39Longevity regulating pathway - mammal_Homo sapiens_hsa042110.93369302
40AMPK signaling pathway_Homo sapiens_hsa041520.91893205
41Leukocyte transendothelial migration_Homo sapiens_hsa046700.91732396
42Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90585234
43Estrogen signaling pathway_Homo sapiens_hsa049150.90229647
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89311087
45Ovarian steroidogenesis_Homo sapiens_hsa049130.89203203
46Tight junction_Homo sapiens_hsa045300.88852560
47Axon guidance_Homo sapiens_hsa043600.88717846
48Rap1 signaling pathway_Homo sapiens_hsa040150.87585061
49Wnt signaling pathway_Homo sapiens_hsa043100.87003446
50mTOR signaling pathway_Homo sapiens_hsa041500.86689347
51Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.86558819
52Notch signaling pathway_Homo sapiens_hsa043300.85518999
53Melanogenesis_Homo sapiens_hsa049160.84976914
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.84431783
55Complement and coagulation cascades_Homo sapiens_hsa046100.83205749
56Vibrio cholerae infection_Homo sapiens_hsa051100.82324267
57Fatty acid biosynthesis_Homo sapiens_hsa000610.77268889
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75754567
59Gap junction_Homo sapiens_hsa045400.74906086
60Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.74780159
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.74763018
62HTLV-I infection_Homo sapiens_hsa051660.74476639
63Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.74463599
64Insulin signaling pathway_Homo sapiens_hsa049100.74390559
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73813283
66Aldosterone synthesis and secretion_Homo sapiens_hsa049250.73794180
67Endometrial cancer_Homo sapiens_hsa052130.71526231
68TNF signaling pathway_Homo sapiens_hsa046680.70794327
69HIF-1 signaling pathway_Homo sapiens_hsa040660.70751083
70GnRH signaling pathway_Homo sapiens_hsa049120.68961534
71Renal cell carcinoma_Homo sapiens_hsa052110.68165187
72Lysine degradation_Homo sapiens_hsa003100.67575241
73Renin-angiotensin system_Homo sapiens_hsa046140.67199374
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.66915238
75Thyroid hormone synthesis_Homo sapiens_hsa049180.65923493
76Cocaine addiction_Homo sapiens_hsa050300.65663125
77Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.64799301
78Renin secretion_Homo sapiens_hsa049240.63962891
79Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.63512781
80Phospholipase D signaling pathway_Homo sapiens_hsa040720.63103737
81Colorectal cancer_Homo sapiens_hsa052100.62740638
82Galactose metabolism_Homo sapiens_hsa000520.62516965
83N-Glycan biosynthesis_Homo sapiens_hsa005100.62455780
84Shigellosis_Homo sapiens_hsa051310.60350259
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59010755
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.57823111
87Pertussis_Homo sapiens_hsa051330.57021695
88MAPK signaling pathway_Homo sapiens_hsa040100.56858979
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.55251364
90VEGF signaling pathway_Homo sapiens_hsa043700.54633166
91Oxytocin signaling pathway_Homo sapiens_hsa049210.54619200
92Fatty acid metabolism_Homo sapiens_hsa012120.53796987
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.53085285
94Type II diabetes mellitus_Homo sapiens_hsa049300.50654537
95Prolactin signaling pathway_Homo sapiens_hsa049170.49689041
96Endocytosis_Homo sapiens_hsa041440.49299649
97Ras signaling pathway_Homo sapiens_hsa040140.49190233
98FoxO signaling pathway_Homo sapiens_hsa040680.49096575
99Choline metabolism in cancer_Homo sapiens_hsa052310.48838529
100Glucagon signaling pathway_Homo sapiens_hsa049220.48507822
101ErbB signaling pathway_Homo sapiens_hsa040120.46914858
102Non-small cell lung cancer_Homo sapiens_hsa052230.46765487
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45892000
104Phagosome_Homo sapiens_hsa041450.45614732
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.45257722
106cAMP signaling pathway_Homo sapiens_hsa040240.44566320
107Glycosaminoglycan degradation_Homo sapiens_hsa005310.42987103
108Gastric acid secretion_Homo sapiens_hsa049710.41543953
109Pentose phosphate pathway_Homo sapiens_hsa000300.40809609
110Hepatitis B_Homo sapiens_hsa051610.40092366
111Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.40001793
112Salmonella infection_Homo sapiens_hsa051320.39952221
113Acute myeloid leukemia_Homo sapiens_hsa052210.39359589
114Prion diseases_Homo sapiens_hsa050200.38793182
115Dorso-ventral axis formation_Homo sapiens_hsa043200.38701530
116Thyroid cancer_Homo sapiens_hsa052160.38426754
117Lysosome_Homo sapiens_hsa041420.35443889

Most similar genes based on co-expression Upload to Enrichr

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