ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	collagen fibril organization (GO:0030199)	4.79900346
2	regulation of integrin-mediated signaling pathway (GO:2001044)	4.58556084
3	protein heterotrimerization (GO:0070208)	4.23032536
4	cell migration involved in heart development (GO:0060973)	3.95034570
5	extracellular fibril organization (GO:0043206)	3.94639049
6	chondrocyte proliferation (GO:0035988)	3.82432513
7	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	3.78064612
8	fibroblast migration (GO:0010761)	3.64245811
9	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.63173933
10	substrate adhesion-dependent cell spreading (GO:0034446)	3.29826059
11	negative regulation of chondrocyte differentiation (GO:0032331)	3.27724609
12	protein localization to cell surface (GO:0034394)	3.22258288
13	metanephric mesenchyme development (GO:0072075)	3.22015841
14	kidney mesenchyme development (GO:0072074)	3.18081319
15	negative regulation of axon extension involved in axon guidance (GO:0048843)	3.13093394
16	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	3.07602576
17	mesenchymal-epithelial cell signaling (GO:0060638)	3.02279468
18	extracellular matrix assembly (GO:0085029)	3.02241152
19	fibril organization (GO:0097435)	3.02084506
20	negative regulation of protein localization to cell surface (GO:2000009)	3.01639229
21	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.96809650
22	axon extension involved in axon guidance (GO:0048846)	2.96809650
23	endodermal cell differentiation (GO:0035987)	2.94226977
24	dermatan sulfate biosynthetic process (GO:0030208)	2.87525505
25	skin morphogenesis (GO:0043589)	2.87005611
26	hippo signaling (GO:0035329)	2.84165205
27	planar cell polarity pathway involved in neural tube closure (GO:0090179)	2.83199785
28	paraxial mesoderm development (GO:0048339)	2.82198961
29	cardiac myofibril assembly (GO:0055003)	2.80344562
30	peripheral nervous system axon ensheathment (GO:0032292)	2.80313960
31	myelination in peripheral nervous system (GO:0022011)	2.80313960
32	bone trabecula formation (GO:0060346)	2.79226966
33	positive regulation of fibroblast migration (GO:0010763)	2.77991006
34	sequestering of extracellular ligand from receptor (GO:0035581)	2.77580180
35	regulation of cardioblast differentiation (GO:0051890)	2.74877779
36	endocardial cushion development (GO:0003197)	2.73585445
37	negative regulation of smooth muscle cell migration (GO:0014912)	2.72338527
38	negative regulation of axon guidance (GO:1902668)	2.67553461
39	type B pancreatic cell proliferation (GO:0044342)	2.65899239
40	negative chemotaxis (GO:0050919)	2.64143321
41	regulation of axon extension involved in axon guidance (GO:0048841)	2.63505636
42	dermatan sulfate metabolic process (GO:0030205)	2.63185817
43	membrane assembly (GO:0071709)	2.62740051
44	response to gravity (GO:0009629)	2.62684770
45	actin filament depolymerization (GO:0030042)	2.62395574
46	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	2.60133310
47	notochord development (GO:0030903)	2.57039990
48	negative regulation of cartilage development (GO:0061037)	2.55848802
49	negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)	2.54544603
50	collagen metabolic process (GO:0032963)	2.54077953
51	endothelial cell morphogenesis (GO:0001886)	2.53015197
52	smooth muscle tissue development (GO:0048745)	2.51696963
53	embryonic cranial skeleton morphogenesis (GO:0048701)	2.50470500
54	anterior/posterior axis specification, embryo (GO:0008595)	2.50114313
55	glomerular basement membrane development (GO:0032836)	2.48946520
56	barbed-end actin filament capping (GO:0051016)	2.48462524
57	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.48297832
58	muscle cell migration (GO:0014812)	2.48119834
59	chondrocyte development (GO:0002063)	2.46918747
60	cartilage condensation (GO:0001502)	2.46426256
61	cell aggregation (GO:0098743)	2.46426256
62	pericardium development (GO:0060039)	2.46133667
63	collagen catabolic process (GO:0030574)	2.45788956
64	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.44883339
65	negative regulation of embryonic development (GO:0045992)	2.44169995
66	outer ear morphogenesis (GO:0042473)	2.43400533
67	keratan sulfate catabolic process (GO:0042340)	2.43024497
68	positive regulation of epithelial to mesenchymal transition (GO:0010718)	2.40972716
69	ventricular cardiac muscle cell development (GO:0055015)	2.40552415
70	regulation of axon guidance (GO:1902667)	2.39872475
71	endocrine hormone secretion (GO:0060986)	2.39234903
72	retina vasculature morphogenesis in camera-type eye (GO:0061299)	2.38984152
73	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	2.37812408
74	extracellular matrix organization (GO:0030198)	2.36987467
75	muscle cell cellular homeostasis (GO:0046716)	2.36832291
76	positive regulation of actin filament depolymerization (GO:0030836)	2.36178962
77	extracellular structure organization (GO:0043062)	2.36092799
78	multicellular organismal macromolecule metabolic process (GO:0044259)	2.35786296
79	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	2.35367649
80	regulation of organ formation (GO:0003156)	2.34906193
81	basement membrane organization (GO:0071711)	2.34789810
82	cell adhesion mediated by integrin (GO:0033627)	2.33907077
83	negative regulation of BMP signaling pathway (GO:0030514)	2.33519266
84	cochlea morphogenesis (GO:0090103)	2.33101215
85	regulation of chondrocyte differentiation (GO:0032330)	2.32710808
86	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.32259866
87	organ induction (GO:0001759)	2.31048657
88	protein retention in ER lumen (GO:0006621)	2.28332901
89	negative regulation of nitric-oxide synthase activity (GO:0051001)	2.27244126
90	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.26135153
91	stress fiber assembly (GO:0043149)	2.26046446
92	multicellular organismal metabolic process (GO:0044236)	2.25676400
93	convergent extension (GO:0060026)	2.23129995
94	cell-substrate adhesion (GO:0031589)	2.21985662
95	negative regulation of endothelial cell proliferation (GO:0001937)	2.21845745
96	positive regulation of osteoblast proliferation (GO:0033690)	2.20874593
97	regulation of cartilage development (GO:0061035)	2.20568443
98	regulation of establishment of planar polarity (GO:0090175)	2.20434182
99	vascular endothelial growth factor signaling pathway (GO:0038084)	2.19642968
100	multicellular organismal catabolic process (GO:0044243)	2.19152180

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRIM28_21343339_ChIP-Seq_HEK293_Human	5.09777484
2	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	4.15168305
3	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.77505625
4	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.66713527
5	WT1_19549856_ChIP-ChIP_CCG9911_Human	2.50894949
6	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.44480649
7	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	2.33309408
8	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	2.25958913
9	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.25429223
10	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.11529312
11	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.08191601
12	BRD4_25478319_ChIP-Seq_HGPS_Human	2.03274358
13	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.97430801
14	CJUN_26792858_Chip-Seq_BT549_Human	1.96632047
15	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.93019057
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.91690446
17	GBX2_23144817_ChIP-Seq_PC3_Human	1.91447359
18	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.91334968
19	CLOCK_20551151_ChIP-Seq_293T_Human	1.88568992
20	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.85289951
21	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.85289951
22	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.80714297
23	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.80714297
24	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.80269521
25	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.71603398
26	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.69161874
27	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.68293309
28	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.67778899
29	TP53_18474530_ChIP-ChIP_U2OS_Human	1.67421637
30	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.67158418
31	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.66188517
32	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.64213228
33	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.59380576
34	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.58623229
35	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.56947604
36	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.50827135
37	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.47637117
38	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.45083358
39	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.44907675
40	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.43947540
41	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.41853979
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41587162
43	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.40659339
44	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.39708074
45	ISL1_27105846_Chip-Seq_CPCs_Mouse	1.38633858
46	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.38328827
47	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.36757437
48	TP53_16413492_ChIP-PET_HCT116_Human	1.34366932
49	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33527214
50	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.31059448
51	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.30171529
52	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.29405551
53	WT1_25993318_ChIP-Seq_PODOCYTE_Human	1.27356451
54	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.25557556
55	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.24788985
56	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.24154738
57	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.23326491
58	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.21096112
59	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.20591509
60	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.20178477
61	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.19727012
62	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.18768159
63	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.16579331
64	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.16276019
65	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.13473959
66	SMAD4_21799915_ChIP-Seq_A2780_Human	1.13188047
67	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.11940894
68	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.10354357
69	SALL4_18804426_ChIP-ChIP_MESCs_Mouse	1.08957616
70	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.05451666
71	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.05323646
72	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.05323646
73	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	1.04564596
74	YAP1_20516196_ChIP-Seq_MESCs_Mouse	1.04463453
75	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.04421226
76	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.04385776
77	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.02399148
78	SA1_22415368_ChIP-Seq_MEFs_Mouse	0.99681065
79	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.98146760
80	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.98036231
81	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.98031099
82	AHR_22903824_ChIP-Seq_MCF-7_Human	0.97143413
83	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.96703069
84	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.96056468
85	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.95524602
86	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.94371859
87	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.94351359
88	* P300_19829295_ChIP-Seq_ESCs_Human	0.93994217
89	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.92907499
90	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.92635949
91	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.91295492
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.90986114
93	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.89733741
94	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	0.88952991
95	SMC1_22415368_ChIP-Seq_MEFs_Mouse	0.88764999
96	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.88550260
97	EZH2_22144423_ChIP-Seq_EOC_Human	0.88073325
98	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.88014637
99	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.88002204
100	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.87828400

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	6.28054785
2	MP0005503_abnormal_tendon_morphology	4.36657891
3	MP0005275_abnormal_skin_tensile	3.79523803
4	MP0004272_abnormal_basement_membrane	3.47423930
5	MP0001958_emphysema	3.22134995
6	MP0003950_abnormal_plasma_membrane	3.17593606
7	MP0003705_abnormal_hypodermis_morpholog	3.17231230
8	MP0003279_aneurysm	3.11044944
9	MP0010030_abnormal_orbit_morphology	2.63500650
10	MP0009780_abnormal_chondrocyte_physiolo	2.62961883
11	MP0005257_abnormal_intraocular_pressure	2.47914531
12	MP0005171_absent_coat_pigmentation	2.39822370
13	MP0005623_abnormal_meninges_morphology	2.25619833
14	MP0001299_abnormal_eye_distance/	2.09657557
15	MP0006054_spinal_hemorrhage	2.09265657
16	MP0003566_abnormal_cell_adhesion	2.08159750
17	MP0000749_muscle_degeneration	1.98901439
18	MP0002295_abnormal_pulmonary_circulatio	1.89899512
19	MP0002108_abnormal_muscle_morphology	1.89767304
20	MP0001542_abnormal_bone_strength	1.87735031
21	MP0005508_abnormal_skeleton_morphology	1.86910823
22	MP0009384_cardiac_valve_regurgitation	1.82351788
23	MP0000751_myopathy	1.70910166
24	MP0010368_abnormal_lymphatic_system	1.65771848
25	MP0009250_abnormal_appendicular_skeleto	1.59028429
26	MP0003941_abnormal_skin_development	1.53715402
27	MP0004084_abnormal_cardiac_muscle	1.50665268
28	MP0000767_abnormal_smooth_muscle	1.50040471
29	MP0005023_abnormal_wound_healing	1.48588361
30	MP0000534_abnormal_ureter_morphology	1.46146355
31	MP0003942_abnormal_urinary_system	1.30775724
32	MP0002282_abnormal_trachea_morphology	1.29773096
33	MP0003283_abnormal_digestive_organ	1.28851004
34	MP0005595_abnormal_vascular_smooth	1.26987627
35	MP0003091_abnormal_cell_migration	1.26093232
36	MP0002938_white_spotting	1.21370297
37	MP0000762_abnormal_tongue_morphology	1.21170685
38	MP0003755_abnormal_palate_morphology	1.18194620
39	MP0002102_abnormal_ear_morphology	1.14476506
40	MP0003385_abnormal_body_wall	1.08939087
41	MP0002060_abnormal_skin_morphology	1.07187912
42	MP0001879_abnormal_lymphatic_vessel	1.06594609
43	MP0002896_abnormal_bone_mineralization	1.06047513
44	MP0005620_abnormal_muscle_contractility	1.04315427
45	MP0000049_abnormal_middle_ear	0.99608512
46	MP0006138_congestive_heart_failure	0.98691599
47	MP0003937_abnormal_limbs/digits/tail_de	0.97791426
48	MP0009053_abnormal_anal_canal	0.96599013
49	MP0010352_gastrointestinal_tract_polyps	0.96002511
50	MP0004036_abnormal_muscle_relaxation	0.94206450
51	MP0002233_abnormal_nose_morphology	0.93270326
52	MP0000428_abnormal_craniofacial_morphol	0.92130976
53	MP0010386_abnormal_urinary_bladder	0.90076871
54	MP0000759_abnormal_skeletal_muscle	0.88834064
55	MP0000163_abnormal_cartilage_morphology	0.88056459
56	MP0000432_abnormal_head_morphology	0.87717584
57	MP0003136_yellow_coat_color	0.87042489
58	MP0000462_abnormal_digestive_system	0.87004844
59	MP0001177_atelectasis	0.85426217
60	MP0000013_abnormal_adipose_tissue	0.84541933
61	MP0005670_abnormal_white_adipose	0.83471135
62	MP0000733_abnormal_muscle_development	0.82367368
63	MP0004270_analgesia	0.82144599
64	MP0002128_abnormal_blood_circulation	0.82074022
65	MP0002133_abnormal_respiratory_system	0.81795548
66	MP0005388_respiratory_system_phenotype	0.81795548
67	MP0003935_abnormal_craniofacial_develop	0.81164119
68	MP0001243_abnormal_dermal_layer	0.81087515
69	MP0002115_abnormal_skeleton_extremities	0.80943884
70	MP0002972_abnormal_cardiac_muscle	0.80715105
71	MP0002116_abnormal_craniofacial_bone	0.79770703
72	MP0004087_abnormal_muscle_fiber	0.79317004
73	MP0000372_irregular_coat_pigmentation	0.77617000
74	MP0008775_abnormal_heart_ventricle	0.75565233
75	MP0004859_abnormal_synaptic_plasticity	0.75026760
76	MP0005187_abnormal_penis_morphology	0.74967260
77	MP0000003_abnormal_adipose_tissue	0.72730503
78	MP0004858_abnormal_nervous_system	0.72625585
79	MP0005248_abnormal_Harderian_gland	0.71732535
80	MP0002114_abnormal_axial_skeleton	0.70402402
81	MP0004134_abnormal_chest_morphology	0.69709524
82	MP0005197_abnormal_uvea_morphology	0.69644893
83	MP0000778_abnormal_nervous_system	0.69608500
84	MP0000747_muscle_weakness	0.69578433
85	MP0004215_abnormal_myocardial_fiber	0.66335067
86	MP0005193_abnormal_anterior_eye	0.64367077
87	MP0005369_muscle_phenotype	0.63653226
88	MP0005367_renal/urinary_system_phenotyp	0.63207159
89	MP0000516_abnormal_urinary_system	0.63207159
90	MP0002697_abnormal_eye_size	0.63073881
91	MP0002932_abnormal_joint_morphology	0.60605301
92	MP0003137_abnormal_impulse_conducting	0.60437997
93	MP0003115_abnormal_respiratory_system	0.60402969
94	MP0001614_abnormal_blood_vessel	0.60329124
95	MP0001984_abnormal_olfaction	0.58613227
96	MP0005390_skeleton_phenotype	0.58299412
97	MP0002249_abnormal_larynx_morphology	0.56410002
98	MP0001849_ear_inflammation	0.55946466
99	MP0004085_abnormal_heartbeat	0.55070372
100	MP0000538_abnormal_urinary_bladder	0.54817687

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature rupture of membranes (HP:0001788)	6.49636207
2	Protrusio acetabuli (HP:0003179)	5.62079508
3	Aortic dissection (HP:0002647)	5.29723145
4	Aortic aneurysm (HP:0004942)	5.19513208
5	Vascular tortuosity (HP:0004948)	4.29104562
6	Soft skin (HP:0000977)	4.09649196
7	Arterial tortuosity (HP:0005116)	3.82350094
8	Neonatal short-limb short stature (HP:0008921)	3.60204450
9	Bladder diverticulum (HP:0000015)	3.36762237
10	Shallow orbits (HP:0000586)	3.29873089
11	Abnormality of dentin (HP:0010299)	3.25213670
12	Broad metatarsal (HP:0001783)	3.07758335
13	Cerebral aneurysm (HP:0004944)	3.05441012
14	Atrophic scars (HP:0001075)	3.00344583
15	Follicular hyperkeratosis (HP:0007502)	2.92003178
16	Coronal craniosynostosis (HP:0004440)	2.89556104
17	Wide anterior fontanel (HP:0000260)	2.85498968
18	Ankle contracture (HP:0006466)	2.85051172
19	Type 1 muscle fiber predominance (HP:0003803)	2.77981734
20	Bowel diverticulosis (HP:0005222)	2.74613366
21	Genu recurvatum (HP:0002816)	2.73074131
22	Hypoplasia of the iris (HP:0007676)	2.72520240
23	Wormian bones (HP:0002645)	2.69372825
24	Spinal rigidity (HP:0003306)	2.67867517
25	Spondylolisthesis (HP:0003302)	2.62603997
26	Fragile skin (HP:0001030)	2.60782716
27	Dilatation of the ascending aorta (HP:0005111)	2.60767819
28	Cervical subluxation (HP:0003308)	2.59294386
29	Infantile muscular hypotonia (HP:0008947)	2.55380987
30	Thin ribs (HP:0000883)	2.54683911
31	Mitral valve prolapse (HP:0001634)	2.49953057
32	Abnormality of the ischium (HP:0003174)	2.49551544
33	Hypoplastic ischia (HP:0003175)	2.48789079
34	Hyperextensible skin (HP:0000974)	2.47375146
35	Ulnar bowing (HP:0003031)	2.42489960
36	Blue sclerae (HP:0000592)	2.37760574
37	Mesomelia (HP:0003027)	2.36619574
38	Popliteal pterygium (HP:0009756)	2.31075196
39	Aplasia of the musculature (HP:0100854)	2.30800716
40	Pulmonary artery stenosis (HP:0004415)	2.25752784
41	Bell-shaped thorax (HP:0001591)	2.19143044
42	Overgrowth (HP:0001548)	2.18978350
43	Aortic regurgitation (HP:0001659)	2.18165629
44	Delayed gross motor development (HP:0002194)	2.17211584
45	Mitral regurgitation (HP:0001653)	2.16499193
46	Absent frontal sinuses (HP:0002688)	2.16119168
47	Round ear (HP:0100830)	2.11734357
48	Mild short stature (HP:0003502)	2.08410810
49	Ectopia lentis (HP:0001083)	2.07939051
50	Abnormal delivery (HP:0001787)	2.05539216
51	Limited hip movement (HP:0008800)	2.04480228
52	Wrist flexion contracture (HP:0001239)	2.04041134
53	Peritonitis (HP:0002586)	2.03853856
54	Joint laxity (HP:0001388)	2.02698575
55	Slender build (HP:0001533)	2.00002023
56	Biconcave vertebral bodies (HP:0004586)	1.97648504
57	Increased variability in muscle fiber diameter (HP:0003557)	1.96084960
58	Broad long bones (HP:0005622)	1.95685327
59	Mitral stenosis (HP:0001718)	1.93174432
60	Osteolytic defects of the hand bones (HP:0009699)	1.91593762
61	Osteolytic defects of the phalanges of the hand (HP:0009771)	1.91593762
62	White forelock (HP:0002211)	1.90544015
63	Aortic valve stenosis (HP:0001650)	1.90066086
64	Hyporeflexia of lower limbs (HP:0002600)	1.89544113
65	Osteoarthritis (HP:0002758)	1.87511369
66	Aneurysm (HP:0002617)	1.87345869
67	Gowers sign (HP:0003391)	1.86237124
68	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.85018931
69	Nemaline bodies (HP:0003798)	1.81711127
70	Camptodactyly of toe (HP:0001836)	1.80939237
71	Partial duplication of the phalanx of hand (HP:0009999)	1.79540696
72	Deviation of the hallux (HP:0010051)	1.79443579
73	Breech presentation (HP:0001623)	1.77731557
74	Pterygium (HP:0001059)	1.77432453
75	Vitreoretinal degeneration (HP:0000655)	1.77048438
76	Hypoventilation (HP:0002791)	1.76523492
77	Calcaneovalgus deformity (HP:0001848)	1.73351146
78	Renal duplication (HP:0000075)	1.70599487
79	Deformed tarsal bones (HP:0008119)	1.70278670
80	Hallux valgus (HP:0001822)	1.69660909
81	Microglossia (HP:0000171)	1.69268418
82	Patchy hypopigmentation of hair (HP:0011365)	1.68611970
83	Long clavicles (HP:0000890)	1.68211495
84	Vertebral compression fractures (HP:0002953)	1.66181857
85	Rhizomelia (HP:0008905)	1.65692820
86	Lipoatrophy (HP:0100578)	1.65685090
87	Abnormality of the acetabulum (HP:0003170)	1.64611371
88	Broad phalanx (HP:0006009)	1.63534660
89	Keratoconus (HP:0000563)	1.63367332
90	Increased corneal curvature (HP:0100692)	1.63367332
91	Disproportionate tall stature (HP:0001519)	1.62521033
92	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	1.61837505
93	Mildly elevated creatine phosphokinase (HP:0008180)	1.58948473
94	Delayed cranial suture closure (HP:0000270)	1.58301816
95	Hip contracture (HP:0003273)	1.57881634
96	Protruding ear (HP:0000411)	1.57320008
97	Turricephaly (HP:0000262)	1.56500378
98	Morphological abnormality of the middle ear (HP:0008609)	1.56132811
99	Inguinal hernia (HP:0000023)	1.55275461
100	Congenital glaucoma (HP:0001087)	1.55182254

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MYLK	4.84744803
2	MUSK	3.53841262
3	DDR2	3.25607799
4	LIMK1	3.07485848
5	PDGFRA	2.38242564
6	EPHB2	2.20104765
7	PAK2	2.06356342
8	PRKD3	2.03744720
9	PTK2	1.98498289
10	PAK3	1.98488534
11	PLK2	1.98329808
12	LATS2	1.75530430
13	TESK1	1.73162956
14	DMPK	1.71759205
15	NTRK1	1.71474252
16	STK38L	1.60934944
17	ILK	1.60405346
18	MAP3K12	1.51140365
19	PAK6	1.44896022
20	ROCK1	1.43575102
21	LATS1	1.41796343
22	TNIK	1.41442599
23	TRIM28	1.38766972
24	FGFR2	1.36968757
25	PAK4	1.32608966
26	MARK1	1.31838113
27	NEK9	1.26249049
28	ROCK2	1.25160737
29	FER	1.23111725
30	DAPK3	1.22099814
31	MINK1	1.17233678
32	STK3	1.16874094
33	EPHA4	1.15253542
34	PIK3CG	1.11466494
35	TGFBR2	1.10380921
36	RIPK1	1.05040880
37	WEE1	1.04255829
38	PRKD2	1.01557121
39	TTN	1.01276722
40	MET	0.99561914
41	BCR	0.98638522
42	BRSK2	0.98603106
43	ERBB3	0.98274356
44	AKT3	0.94203454
45	PDGFRB	0.90791061
46	PTK2B	0.88483579
47	CAMK2G	0.88206250
48	STK38	0.87324706
49	CAMK2D	0.84162541
50	EIF2AK1	0.84143520
51	PRKCE	0.81606682
52	GRK5	0.81591088
53	PLK3	0.80077471
54	PRKD1	0.79642646
55	BRSK1	0.79479124
56	GSK3A	0.78887010
57	MAP2K1	0.77272221
58	PNCK	0.75520423
59	CAMK2B	0.74572603
60	CASK	0.73892346
61	FGFR1	0.72901810
62	MELK	0.72733040
63	LMTK2	0.72428541
64	ERBB4	0.70878174
65	ABL2	0.70490756
66	STK39	0.65456491
67	PKN2	0.65356593
68	ADRBK1	0.64802784
69	STK24	0.64348138
70	BMPR1B	0.64034234
71	NUAK1	0.61741221
72	PKN1	0.60099678
73	MAP3K3	0.54479029
74	NTRK2	0.52761949
75	CAMK1	0.52185790
76	MAPKAPK3	0.51419070
77	PAK1	0.51374814
78	TGFBR1	0.48071790
79	MKNK2	0.47638419
80	PRKCG	0.46599223
81	DYRK1A	0.45194935
82	PIK3CA	0.44956298
83	MST4	0.44877804
84	UHMK1	0.44388590
85	BMX	0.43830492
86	PRKCH	0.43674310
87	CDK18	0.43294898
88	FLT3	0.42765194
89	CDC42BPA	0.42199377
90	CAMK2A	0.42025592
91	TRPM7	0.38297259
92	CDK15	0.36271094
93	MTOR	0.36237947
94	CSNK1G1	0.35999369
95	CDK14	0.35090620
96	MOS	0.33510119
97	FRK	0.33276466
98	CAMK1G	0.32630784
99	TYRO3	0.32236271
100	NTRK3	0.31962134

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ECM-receptor interaction_Homo sapiens_hsa04512	3.53269929
2	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	2.37290817
3	Focal adhesion_Homo sapiens_hsa04510	2.37121637
4	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.35509920
5	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.27534430
6	Hippo signaling pathway_Homo sapiens_hsa04390	2.04856076
7	Adherens junction_Homo sapiens_hsa04520	2.00584122
8	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.83300492
9	Basal cell carcinoma_Homo sapiens_hsa05217	1.82474697
10	Protein digestion and absorption_Homo sapiens_hsa04974	1.77176372
11	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.73090277
12	Proteoglycans in cancer_Homo sapiens_hsa05205	1.66571117
13	Tight junction_Homo sapiens_hsa04530	1.64895385
14	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.62839669
15	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	1.59744664
16	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.57392024
17	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.47314404
18	Melanogenesis_Homo sapiens_hsa04916	1.44164034
19	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	1.36333724
20	Wnt signaling pathway_Homo sapiens_hsa04310	1.29755022
21	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.26763550
22	Axon guidance_Homo sapiens_hsa04360	1.26756196
23	Fatty acid elongation_Homo sapiens_hsa00062	1.20046586
24	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.17128505
25	Gap junction_Homo sapiens_hsa04540	1.15988821
26	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.15616308
27	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.13835606
28	Amoebiasis_Homo sapiens_hsa05146	1.13654822
29	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.11791773
30	Melanoma_Homo sapiens_hsa05218	1.11628323
31	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.10654041
32	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	1.08249029
33	beta-Alanine metabolism_Homo sapiens_hsa00410	1.06644708
34	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.06438360
35	Propanoate metabolism_Homo sapiens_hsa00640	1.05153679
36	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.02320334
37	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.99239854
38	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.98096068
39	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.96144039
40	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.93284082
41	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.92180420
42	Vibrio cholerae infection_Homo sapiens_hsa05110	0.89412344
43	Circadian rhythm_Homo sapiens_hsa04710	0.89354987
44	Arginine and proline metabolism_Homo sapiens_hsa00330	0.89132497
45	MicroRNAs in cancer_Homo sapiens_hsa05206	0.87153702
46	Rap1 signaling pathway_Homo sapiens_hsa04015	0.85837257
47	Cocaine addiction_Homo sapiens_hsa05030	0.85797594
48	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.84876690
49	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.83215063
50	PPAR signaling pathway_Homo sapiens_hsa03320	0.80565295
51	Protein export_Homo sapiens_hsa03060	0.77957549
52	Pathways in cancer_Homo sapiens_hsa05200	0.77282163
53	Small cell lung cancer_Homo sapiens_hsa05222	0.77083149
54	Pyruvate metabolism_Homo sapiens_hsa00620	0.74029863
55	Circadian entrainment_Homo sapiens_hsa04713	0.72560818
56	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.72342658
57	Steroid biosynthesis_Homo sapiens_hsa00100	0.72042287
58	cAMP signaling pathway_Homo sapiens_hsa04024	0.70139043
59	Glutathione metabolism_Homo sapiens_hsa00480	0.69736054
60	Sulfur metabolism_Homo sapiens_hsa00920	0.68754362
61	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.68081191
62	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.66484441
63	Gastric acid secretion_Homo sapiens_hsa04971	0.66137715
64	GABAergic synapse_Homo sapiens_hsa04727	0.63575851
65	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.62210638
66	Glioma_Homo sapiens_hsa05214	0.61929194
67	Insulin secretion_Homo sapiens_hsa04911	0.61649435
68	Renin secretion_Homo sapiens_hsa04924	0.61615710
69	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.60625510
70	Endocytosis_Homo sapiens_hsa04144	0.59395061
71	Prostate cancer_Homo sapiens_hsa05215	0.58459960
72	Dopaminergic synapse_Homo sapiens_hsa04728	0.57975857
73	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.57680942
74	Sphingolipid metabolism_Homo sapiens_hsa00600	0.57382245
75	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.56966950
76	Histidine metabolism_Homo sapiens_hsa00340	0.56330934
77	Calcium signaling pathway_Homo sapiens_hsa04020	0.55558280
78	Amphetamine addiction_Homo sapiens_hsa05031	0.54900425
79	AMPK signaling pathway_Homo sapiens_hsa04152	0.54008956
80	Glutamatergic synapse_Homo sapiens_hsa04724	0.53603624
81	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.53138781
82	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.52862029
83	Ras signaling pathway_Homo sapiens_hsa04014	0.52114220
84	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.51966061
85	Endometrial cancer_Homo sapiens_hsa05213	0.49743343
86	Fatty acid metabolism_Homo sapiens_hsa01212	0.47920130
87	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.47906591
88	Platelet activation_Homo sapiens_hsa04611	0.47645043
89	Cardiac muscle contraction_Homo sapiens_hsa04260	0.47021666
90	Fatty acid degradation_Homo sapiens_hsa00071	0.45520718
91	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.45138473
92	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.43644347
93	Cholinergic synapse_Homo sapiens_hsa04725	0.43385892
94	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.40758914
95	Colorectal cancer_Homo sapiens_hsa05210	0.40259256
96	Folate biosynthesis_Homo sapiens_hsa00790	0.40254522
97	Salivary secretion_Homo sapiens_hsa04970	0.38088674
98	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.37842120
99	Lysine degradation_Homo sapiens_hsa00310	0.37063988
100	Sulfur relay system_Homo sapiens_hsa04122	0.36895784

C1ORF198

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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