ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein maturation by protein folding (GO:0022417)	4.44545918
2	type B pancreatic cell proliferation (GO:0044342)	4.04051916
3	extracellular fibril organization (GO:0043206)	3.68752799
4	COPI coating of Golgi vesicle (GO:0048205)	3.59618508
5	Golgi transport vesicle coating (GO:0048200)	3.59618508
6	positive regulation of actin filament depolymerization (GO:0030836)	3.54909100
7	protein retention in ER lumen (GO:0006621)	3.35272340
8	protein heterotrimerization (GO:0070208)	3.25336571
9	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.03289263
10	kidney mesenchyme development (GO:0072074)	2.94319221
11	mitotic nuclear envelope reassembly (GO:0007084)	2.91879131
12	nuclear envelope reassembly (GO:0031468)	2.91879131
13	positive regulation of mitochondrial fission (GO:0090141)	2.84370919
14	chaperone-mediated protein transport (GO:0072321)	2.79633583
15	lipopolysaccharide biosynthetic process (GO:0009103)	2.78563576
16	muscle cell migration (GO:0014812)	2.77816174
17	sequestering of actin monomers (GO:0042989)	2.75029607
18	pyrimidine nucleobase catabolic process (GO:0006208)	2.70446499
19	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	2.70107559
20	fibril organization (GO:0097435)	2.67143203
21	negative regulation of JAK-STAT cascade (GO:0046426)	2.65492426
22	cullin deneddylation (GO:0010388)	2.65344981
23	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	2.63095604
24	proteasome assembly (GO:0043248)	2.62446309
25	protein deneddylation (GO:0000338)	2.61652317
26	positive regulation of TOR signaling (GO:0032008)	2.60513618
27	pattern specification involved in kidney development (GO:0061004)	2.59932978
28	axon extension involved in axon guidance (GO:0048846)	2.58803933
29	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.58803933
30	ganglion development (GO:0061548)	2.57327770
31	collagen fibril organization (GO:0030199)	2.51126956
32	metanephric mesenchyme development (GO:0072075)	2.45896719
33	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	2.45889360
34	iron-sulfur cluster assembly (GO:0016226)	2.44534206
35	metallo-sulfur cluster assembly (GO:0031163)	2.44534206
36	regulation of mitochondrial translation (GO:0070129)	2.44007569
37	negative regulation of axon extension involved in axon guidance (GO:0048843)	2.42642067
38	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199	2.42044465
39	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.41756710
40	cochlea morphogenesis (GO:0090103)	2.41413946
41	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	2.39843591
42	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.38715657
43	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.38155889
44	barbed-end actin filament capping (GO:0051016)	2.37083197
45	positive regulation of protein depolymerization (GO:1901881)	2.35864193
46	GTP biosynthetic process (GO:0006183)	2.34463781
47	endocardial cushion development (GO:0003197)	2.32725781
48	response to gravity (GO:0009629)	2.32348855
49	regulation of integrin-mediated signaling pathway (GO:2001044)	2.31527296
50	skin morphogenesis (GO:0043589)	2.31422122
51	mesonephros development (GO:0001823)	2.30886325
52	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.26991333
53	negative regulation of axon guidance (GO:1902668)	2.26204892
54	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.24114603
55	protein complex biogenesis (GO:0070271)	2.23876949
56	response to redox state (GO:0051775)	2.23484423
57	ventricular cardiac muscle cell development (GO:0055015)	2.21971905
58	positive regulation of protein complex disassembly (GO:0043243)	2.21668017
59	negative regulation of embryonic development (GO:0045992)	2.20802717
60	guanosine-containing compound biosynthetic process (GO:1901070)	2.20689053
61	middle ear morphogenesis (GO:0042474)	2.20398446
62	outflow tract septum morphogenesis (GO:0003148)	2.18513274
63	negative regulation of cell size (GO:0045792)	2.18163790
64	actin filament depolymerization (GO:0030042)	2.18110411
65	embryonic skeletal joint morphogenesis (GO:0060272)	2.12437830
66	outer ear morphogenesis (GO:0042473)	2.10848119
67	sequestering of extracellular ligand from receptor (GO:0035581)	2.10778412
68	negative regulation of release of cytochrome c from mitochondria (GO:0090201)	2.09723626
69	bone trabecula formation (GO:0060346)	2.09578410
70	growth hormone secretion (GO:0030252)	2.08801478
71	positive regulation of protein targeting to membrane (GO:0090314)	2.08737500
72	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	2.08363275
73	positive regulation of synapse assembly (GO:0051965)	2.07890516
74	regulation of axon extension involved in axon guidance (GO:0048841)	2.07876466
75	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.07837884
76	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.07837884
77	NADH dehydrogenase complex assembly (GO:0010257)	2.07837884
78	UTP biosynthetic process (GO:0006228)	2.07556666
79	regulation of cardioblast differentiation (GO:0051890)	2.07272600
80	axonal fasciculation (GO:0007413)	2.07121236
81	substrate-dependent cell migration (GO:0006929)	2.04851722
82	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	2.04498070
83	positive regulation of axon extension (GO:0045773)	2.04074577
84	axon extension (GO:0048675)	2.03885015
85	uterus development (GO:0060065)	2.03824737
86	negative regulation of chondrocyte differentiation (GO:0032331)	2.03254752
87	tooth mineralization (GO:0034505)	2.03156061
88	CTP biosynthetic process (GO:0006241)	2.02312462
89	CTP metabolic process (GO:0046036)	2.02312462
90	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.02179480
91	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.01699338
92	substrate-independent telencephalic tangential migration (GO:0021826)	2.01699338
93	norepinephrine metabolic process (GO:0042415)	2.01485306
94	regulation of axon guidance (GO:1902667)	2.01330717
95	regulation of gonadotropin secretion (GO:0032276)	2.00751095
96	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	2.00291327
97	positive regulation of cartilage development (GO:0061036)	1.99840949
98	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	1.98631241
99	regulation of cardioblast proliferation (GO:0003264)	1.98114522
100	regulation of secondary heart field cardioblast proliferation (GO:0003266)	1.98114522

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	5.40164659
2	TRIM28_21343339_ChIP-Seq_HEK293_Human	3.31294271
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.24382517
4	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.89254388
5	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	2.81561117
6	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.51258112
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.42425971
8	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.29172217
9	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.23147263
10	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.22251155
11	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.21583148
12	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.15683165
13	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	2.11422286
14	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.08968998
15	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	2.04638034
16	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.02672346
17	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.95160194
18	ZNF263_19887448_ChIP-Seq_K562_Human	1.89799148
19	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.88394511
20	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.85546262
21	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.78213675
22	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.71365451
23	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.71008387
24	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.68140864
25	GABP_19822575_ChIP-Seq_HepG2_Human	1.67923676
26	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.66196162
27	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.64883363
28	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.63491313
29	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.61733548
30	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.59149451
31	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.57858033
32	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.57496504
33	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.52865403
34	XRN2_22483619_ChIP-Seq_HELA_Human	1.52367296
35	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.50125952
36	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.50125952
37	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.49599046
38	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.49034825
39	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.45819050
40	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.41932970
41	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.41639152
42	* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.38960125
43	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.38855613
44	DCP1A_22483619_ChIP-Seq_HELA_Human	1.38003645
45	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.37630709
46	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.37262563
47	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.33824039
48	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.33724530
49	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.33413693
50	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.32605343
51	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.31973013
52	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.31559390
53	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.30284023
54	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.26960161
55	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.25836929
56	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.24884399
57	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.24682253
58	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.24217584
59	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.24027840
60	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.22323064
61	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.22308724
62	TRIM28_19339689_ChIP-ChIP_MESCs_Mouse	1.21299081
63	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.18538057
64	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.17904202
65	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.15799789
66	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.15743292
67	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.15511488
68	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.14055656
69	SETDB1_19884255_ChIP-Seq_MESCs_Mouse	1.13124621
70	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.12420291
71	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.12239844
72	CLOCK_20551151_ChIP-Seq_293T_Human	1.10818287
73	TTF2_22483619_ChIP-Seq_HELA_Human	1.10749904
74	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.10192357
75	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.06287575
76	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.05861460
77	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	1.04208126
78	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.03929489
79	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.03621867
80	TET1_21490601_ChIP-Seq_MESCs_Mouse	1.02360633
81	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.02356317
82	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.02125449
83	SOX17_20123909_ChIP-Seq_XEN_Mouse	1.00835116
84	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.00550191
85	TBX5_21415370_ChIP-Seq_HL-1_Mouse	0.99899952
86	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.99115818
87	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.99061157
88	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.98578138
89	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.97878160
90	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.96855193
91	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.95204651
92	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.94604216
93	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.94030063
94	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.93484928
95	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.93154440
96	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.93078737
97	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	0.91000630
98	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.90714759
99	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.90166235
100	SA1_22415368_ChIP-Seq_MEFs_Mouse	0.89989892

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	4.28631244
2	MP0010030_abnormal_orbit_morphology	3.24569569
3	MP0004272_abnormal_basement_membrane	2.71914719
4	MP0005623_abnormal_meninges_morphology	2.68064272
5	MP0005503_abnormal_tendon_morphology	2.61607825
6	MP0001542_abnormal_bone_strength	2.42582216
7	MP0005257_abnormal_intraocular_pressure	2.36626154
8	MP0000751_myopathy	2.19272488
9	MP0003279_aneurysm	2.17211527
10	MP0005275_abnormal_skin_tensile	2.06275587
11	MP0000049_abnormal_middle_ear	2.04487685
12	MP0001529_abnormal_vocalization	2.03847439
13	MP0000013_abnormal_adipose_tissue	1.96735592
14	MP0002234_abnormal_pharynx_morphology	1.88388185
15	MP0000534_abnormal_ureter_morphology	1.82946314
16	MP0003942_abnormal_urinary_system	1.82131878
17	MP0010368_abnormal_lymphatic_system	1.81801115
18	MP0005508_abnormal_skeleton_morphology	1.64304539
19	MP0000750_abnormal_muscle_regeneration	1.63965343
20	MP0008789_abnormal_olfactory_epithelium	1.63887585
21	MP0001299_abnormal_eye_distance/	1.63460054
22	MP0009384_cardiac_valve_regurgitation	1.55654349
23	MP0009250_abnormal_appendicular_skeleto	1.48493887
24	MP0003705_abnormal_hypodermis_morpholog	1.45237842
25	MP0001958_emphysema	1.45200824
26	MP0000749_muscle_degeneration	1.44553150
27	MP0002249_abnormal_larynx_morphology	1.43714965
28	MP0009780_abnormal_chondrocyte_physiolo	1.41266636
29	MP0003385_abnormal_body_wall	1.40263576
30	MP0009053_abnormal_anal_canal	1.38378535
31	MP0002877_abnormal_melanocyte_morpholog	1.31662898
32	MP0002282_abnormal_trachea_morphology	1.31559222
33	MP0005367_renal/urinary_system_phenotyp	1.27875182
34	MP0000516_abnormal_urinary_system	1.27875182
35	MP0005187_abnormal_penis_morphology	1.27827691
36	MP0006276_abnormal_autonomic_nervous	1.27204112
37	MP0002295_abnormal_pulmonary_circulatio	1.23298147
38	MP0002938_white_spotting	1.22384451
39	MP0003315_abnormal_perineum_morphology	1.21421574
40	MP0002177_abnormal_outer_ear	1.17155060
41	MP0000003_abnormal_adipose_tissue	1.16209180
42	MP0004858_abnormal_nervous_system	1.16032711
43	MP0005394_taste/olfaction_phenotype	1.15643751
44	MP0005499_abnormal_olfactory_system	1.15643751
45	MP0003123_paternal_imprinting	1.13548096
46	MP0002837_dystrophic_cardiac_calcinosis	1.13112884
47	MP0001905_abnormal_dopamine_level	1.11470393
48	MP0004134_abnormal_chest_morphology	1.10915218
49	MP0000778_abnormal_nervous_system	1.10627054
50	MP0004233_abnormal_muscle_weight	1.10295448
51	MP0000462_abnormal_digestive_system	1.08298876
52	MP0003119_abnormal_digestive_system	1.07490275
53	MP0000647_abnormal_sebaceous_gland	1.07344775
54	MP0002102_abnormal_ear_morphology	1.06693936
55	MP0002751_abnormal_autonomic_nervous	1.06685967
56	MP0002233_abnormal_nose_morphology	1.04434140
57	MP0001879_abnormal_lymphatic_vessel	1.04388874
58	MP0003755_abnormal_palate_morphology	1.03487821
59	MP0002108_abnormal_muscle_morphology	1.02626313
60	MP0008932_abnormal_embryonic_tissue	1.01514385
61	MP0000762_abnormal_tongue_morphology	0.98983286
62	MP0006054_spinal_hemorrhage	0.97929372
63	MP0000163_abnormal_cartilage_morphology	0.97657863
64	MP0003566_abnormal_cell_adhesion	0.96156087
65	MP0010386_abnormal_urinary_bladder	0.93476868
66	MP0003186_abnormal_redox_activity	0.91599309
67	MP0003880_abnormal_central_pattern	0.91473276
68	MP0001243_abnormal_dermal_layer	0.91034036
69	MP0003937_abnormal_limbs/digits/tail_de	0.90729474
70	MP0002653_abnormal_ependyma_morphology	0.89442510
71	MP0002736_abnormal_nociception_after	0.88434229
72	MP0003122_maternal_imprinting	0.87860062
73	MP0002932_abnormal_joint_morphology	0.84953611
74	MP0005646_abnormal_pituitary_gland	0.83806132
75	MP0002116_abnormal_craniofacial_bone	0.83403080
76	MP0004859_abnormal_synaptic_plasticity	0.82532699
77	MP0005197_abnormal_uvea_morphology	0.81985360
78	MP0002184_abnormal_innervation	0.81964078
79	MP0000639_abnormal_adrenal_gland	0.81410120
80	MP0000538_abnormal_urinary_bladder	0.80902829
81	MP0003121_genomic_imprinting	0.80094952
82	MP0002822_catalepsy	0.79537530
83	MP0001270_distended_abdomen	0.79013373
84	MP0003935_abnormal_craniofacial_develop	0.78424279
85	MP0005171_absent_coat_pigmentation	0.77639016
86	MP0000759_abnormal_skeletal_muscle	0.77093395
87	MP0000537_abnormal_urethra_morphology	0.76305468
88	MP0002909_abnormal_adrenal_gland	0.76065966
89	MP0005330_cardiomyopathy	0.75945504
90	MP0002060_abnormal_skin_morphology	0.75451021
91	MP0003115_abnormal_respiratory_system	0.75011553
92	MP0002160_abnormal_reproductive_system	0.74899262
93	MP0002697_abnormal_eye_size	0.69541359
94	MP0002114_abnormal_axial_skeleton	0.68923102
95	MP0000767_abnormal_smooth_muscle	0.68676853
96	MP0001340_abnormal_eyelid_morphology	0.68350515
97	MP0000681_abnormal_thyroid_gland	0.67773703
98	MP0002896_abnormal_bone_mineralization	0.66696012
99	MP0000733_abnormal_muscle_development	0.64950499
100	MP0005193_abnormal_anterior_eye	0.62289043

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature rupture of membranes (HP:0001788)	5.52486752
2	Protrusio acetabuli (HP:0003179)	3.74572781
3	Follicular hyperkeratosis (HP:0007502)	3.36506610
4	Abnormality of dentin (HP:0010299)	3.11707619
5	Spinal rigidity (HP:0003306)	2.95480316
6	Ankle contracture (HP:0006466)	2.84876959
7	Bladder diverticulum (HP:0000015)	2.83526731
8	Soft skin (HP:0000977)	2.60644932
9	Morphological abnormality of the middle ear (HP:0008609)	2.44583897
10	Atrophic scars (HP:0001075)	2.44168171
11	Long toe (HP:0010511)	2.41043075
12	Hand muscle atrophy (HP:0009130)	2.37451348
13	Hypoventilation (HP:0002791)	2.31545811
14	Vertebral compression fractures (HP:0002953)	2.25815642
15	Aortic dissection (HP:0002647)	2.25507653
16	Type 1 muscle fiber predominance (HP:0003803)	2.24187553
17	Upper limb amyotrophy (HP:0009129)	2.21108887
18	Distal upper limb amyotrophy (HP:0007149)	2.21108887
19	Adrenal hypoplasia (HP:0000835)	2.19730842
20	Acute necrotizing encephalopathy (HP:0006965)	2.17506785
21	Delayed gross motor development (HP:0002194)	2.16654422
22	Abnormal mitochondria in muscle tissue (HP:0008316)	2.14936902
23	Bowel diverticulosis (HP:0005222)	2.14023401
24	Short nail (HP:0001799)	2.11526728
25	Hydroureter (HP:0000072)	2.08774362
26	Pulmonary artery stenosis (HP:0004415)	2.08757229
27	Short clavicles (HP:0000894)	2.06182498
28	Aplasia/Hypoplasia of the clavicles (HP:0006710)	2.04389984
29	Vascular tortuosity (HP:0004948)	2.02800596
30	Abnormality of the umbilical cord (HP:0010881)	2.02737471
31	Mildly elevated creatine phosphokinase (HP:0008180)	2.01080895
32	Infantile muscular hypotonia (HP:0008947)	2.00543970
33	Microglossia (HP:0000171)	2.00052640
34	Hypoplastic left heart (HP:0004383)	1.98258463
35	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.98001758
36	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.98001758
37	Retinal dysplasia (HP:0007973)	1.97307015
38	Unilateral renal agenesis (HP:0000122)	1.93177038
39	Renal Fanconi syndrome (HP:0001994)	1.93061152
40	Wormian bones (HP:0002645)	1.93058844
41	Buphthalmos (HP:0000557)	1.89181963
42	Wrist flexion contracture (HP:0001239)	1.89036095
43	Generalized amyotrophy (HP:0003700)	1.88676723
44	Congenital glaucoma (HP:0001087)	1.88623876
45	Failure to thrive in infancy (HP:0001531)	1.87388898
46	Hyperacusis (HP:0010780)	1.87073080
47	Entropion (HP:0000621)	1.85667773
48	Renal dysplasia (HP:0000110)	1.84727173
49	Mitochondrial inheritance (HP:0001427)	1.83659105
50	Breech presentation (HP:0001623)	1.81253854
51	Limb-girdle muscle weakness (HP:0003325)	1.80341257
52	Down-sloping shoulders (HP:0200021)	1.79654944
53	Cervical subluxation (HP:0003308)	1.75921275
54	Slender build (HP:0001533)	1.75677396
55	Overriding aorta (HP:0002623)	1.74275072
56	Polyphagia (HP:0002591)	1.73687360
57	Redundant skin (HP:0001582)	1.73048307
58	Abnormal umbilical cord blood vessels (HP:0011403)	1.72253512
59	Single umbilical artery (HP:0001195)	1.72253512
60	Abnormality of the fetal cardiovascular system (HP:0010948)	1.72253512
61	Achilles tendon contracture (HP:0001771)	1.71662738
62	Fragile skin (HP:0001030)	1.71046858
63	Bell-shaped thorax (HP:0001591)	1.70219115
64	Upper limb muscle weakness (HP:0003484)	1.69918170
65	Arterial tortuosity (HP:0005116)	1.69365606
66	Elbow flexion contracture (HP:0002987)	1.69023251
67	Limb-girdle muscle atrophy (HP:0003797)	1.67601471
68	Shoulder girdle muscle weakness (HP:0003547)	1.67461400
69	Bradycardia (HP:0001662)	1.66885228
70	Hypoplastic heart (HP:0001961)	1.64891018
71	Hallux valgus (HP:0001822)	1.64865073
72	Adducted thumb (HP:0001181)	1.64704332
73	Shallow orbits (HP:0000586)	1.64521178
74	Acute encephalopathy (HP:0006846)	1.64386569
75	Progressive macrocephaly (HP:0004481)	1.63656894
76	Abnormality of the musculature of the pelvis (HP:0001469)	1.63593811
77	Abnormality of the hip-girdle musculature (HP:0001445)	1.63593811
78	Renal duplication (HP:0000075)	1.60664193
79	Deviation of the hallux (HP:0010051)	1.59118384
80	Abnormal delivery (HP:0001787)	1.58869913
81	Hyperextensible skin (HP:0000974)	1.55376429
82	Occipital encephalocele (HP:0002085)	1.53275742
83	Abnormality of the anterior chamber (HP:0000593)	1.52405772
84	Reduced subcutaneous adipose tissue (HP:0003758)	1.52182530
85	Deformed tarsal bones (HP:0008119)	1.50567151
86	Opisthotonus (HP:0002179)	1.50502018
87	Hepatocellular necrosis (HP:0001404)	1.49956090
88	Joint laxity (HP:0001388)	1.49785180
89	Dental crowding (HP:0000678)	1.49379420
90	Congenital malformation of the right heart (HP:0011723)	1.48597272
91	Double outlet right ventricle (HP:0001719)	1.48597272
92	Hepatic necrosis (HP:0002605)	1.46964468
93	Abnormality of the distal phalanges of the toes (HP:0010182)	1.45466502
94	Severe muscular hypotonia (HP:0006829)	1.45372374
95	Insomnia (HP:0100785)	1.44565870
96	Round ear (HP:0100830)	1.44060923
97	Abnormality of the phalanges of the hallux (HP:0010057)	1.43892916
98	Increased serum pyruvate (HP:0003542)	1.42861934
99	Abnormalities of placenta or umbilical cord (HP:0001194)	1.42760111
100	Osteopenia (HP:0000938)	1.42540351

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TESK1	4.83024981
2	LIMK1	4.34078908
3	BCKDK	2.53131220
4	TESK2	2.48589494
5	VRK2	2.45462120
6	MAP2K7	2.41633355
7	MYLK	2.36063836
8	LMTK2	2.23787672
9	TRIM28	2.20341707
10	PIM2	2.06921936
11	NME2	2.06430008
12	EPHB2	2.04176151
13	EPHA2	1.84490475
14	CSNK1G3	1.80389690
15	ARAF	1.74230851
16	BUB1	1.72414484
17	MARK1	1.71157196
18	CSNK1A1L	1.54162509
19	BCR	1.53192550
20	STK16	1.50319774
21	ABL2	1.47912127
22	PTK2	1.45831724
23	CSNK1G1	1.44250936
24	CDK19	1.39621813
25	CSNK1G2	1.37639315
26	MAP3K4	1.30377217
27	MAP3K12	1.29557639
28	ILK	1.26589810
29	SCYL2	1.23453099
30	MAPKAPK3	1.22293524
31	DYRK2	1.20786039
32	MAP3K6	1.19379787
33	PAK4	1.15497368
34	DDR2	1.08113220
35	PKN2	1.07784415
36	PHKG2	1.03878580
37	PHKG1	1.03878580
38	SRPK1	1.03302253
39	NTRK1	0.94661494
40	CAMK2G	0.93625590
41	KDR	0.90111695
42	PDGFRA	0.89840400
43	MAP4K2	0.86911944
44	ERBB3	0.83850226
45	PAK2	0.79774038
46	CDK14	0.78112426
47	MINK1	0.76850311
48	CDK18	0.76371977
49	CAMK2D	0.74994106
50	WNK3	0.73975190
51	MAP3K11	0.73376673
52	TRIB3	0.73223041
53	NEK1	0.72157385
54	CDK15	0.70838308
55	TAOK2	0.70510172
56	CDK11A	0.70290860
57	PAK6	0.69740759
58	ROCK2	0.68897950
59	CAMK2B	0.67905011
60	AURKA	0.67036464
61	MAP2K4	0.66952423
62	IRAK3	0.66825016
63	CDK8	0.65823651
64	ERBB4	0.64792774
65	TTN	0.63938469
66	PDK2	0.63733745
67	GRK5	0.63629077
68	GRK7	0.63108194
69	DYRK3	0.62906764
70	DAPK3	0.61455991
71	DMPK	0.60750985
72	ADRBK1	0.60574178
73	FER	0.60568568
74	PAK1	0.59509023
75	RPS6KA2	0.59081546
76	BRSK1	0.58864547
77	EPHA4	0.57982348
78	ROCK1	0.57739971
79	PTK2B	0.56924608
80	PLK2	0.56901051
81	PBK	0.56772375
82	MUSK	0.55695923
83	FLT3	0.55237163
84	PRKCI	0.53515444
85	PRKCE	0.53249140
86	PRKD2	0.51038523
87	MOS	0.50631365
88	DYRK1B	0.49667193
89	CCNB1	0.49330953
90	PRKD1	0.48962976
91	SIK1	0.48635494
92	CDK7	0.48390270
93	PINK1	0.48228813
94	PRKG2	0.47865922
95	CASK	0.47754541
96	BRAF	0.47666409
97	TIE1	0.43650993
98	CAMK2A	0.41490198
99	DAPK1	0.41053306
100	LATS1	0.40504987

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	2.44734085
2	Proteasome_Homo sapiens_hsa03050	2.32108414
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.31731665
4	Fatty acid elongation_Homo sapiens_hsa00062	2.29069451
5	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	2.24666697
6	Parkinsons disease_Homo sapiens_hsa05012	2.15500183
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.06965615
8	Sulfur relay system_Homo sapiens_hsa04122	2.02938477
9	Vibrio cholerae infection_Homo sapiens_hsa05110	2.02537300
10	Protein export_Homo sapiens_hsa03060	1.90951039
11	Folate biosynthesis_Homo sapiens_hsa00790	1.85798273
12	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.75309219
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.68214588
14	RNA polymerase_Homo sapiens_hsa03020	1.68036531
15	Huntingtons disease_Homo sapiens_hsa05016	1.63447964
16	Steroid biosynthesis_Homo sapiens_hsa00100	1.58533424
17	Alzheimers disease_Homo sapiens_hsa05010	1.49937631
18	Pyrimidine metabolism_Homo sapiens_hsa00240	1.45885500
19	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.45007502
20	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.42427781
21	Cardiac muscle contraction_Homo sapiens_hsa04260	1.42347217
22	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.32684060
23	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.32257162
24	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.31590197
25	ECM-receptor interaction_Homo sapiens_hsa04512	1.30391299
26	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.29377711
27	Base excision repair_Homo sapiens_hsa03410	1.27253940
28	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.19764792
29	Hippo signaling pathway_Homo sapiens_hsa04390	1.14935658
30	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.13717873
31	Pentose phosphate pathway_Homo sapiens_hsa00030	1.11840042
32	Glutathione metabolism_Homo sapiens_hsa00480	1.11394147
33	Basal cell carcinoma_Homo sapiens_hsa05217	1.10331566
34	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.08784205
35	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.08677638
36	Axon guidance_Homo sapiens_hsa04360	1.06846900
37	Collecting duct acid secretion_Homo sapiens_hsa04966	1.05512965
38	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.05450543
39	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.05077557
40	Sulfur metabolism_Homo sapiens_hsa00920	1.04537606
41	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.04438447
42	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.99789836
43	Galactose metabolism_Homo sapiens_hsa00052	0.99298782
44	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.97630328
45	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.96424841
46	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.95742944
47	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.93897763
48	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.93037531
49	Cocaine addiction_Homo sapiens_hsa05030	0.91533472
50	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.91144270
51	Nucleotide excision repair_Homo sapiens_hsa03420	0.83845938
52	Focal adhesion_Homo sapiens_hsa04510	0.81894017
53	Carbon metabolism_Homo sapiens_hsa01200	0.80882116
54	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.79359592
55	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.79270029
56	Gap junction_Homo sapiens_hsa04540	0.74751962
57	Purine metabolism_Homo sapiens_hsa00230	0.74311571
58	Pyruvate metabolism_Homo sapiens_hsa00620	0.74028890
59	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.73219833
60	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.71180092
61	Melanoma_Homo sapiens_hsa05218	0.69654900
62	AMPK signaling pathway_Homo sapiens_hsa04152	0.68485650
63	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.68191484
64	DNA replication_Homo sapiens_hsa03030	0.66275355
65	Basal transcription factors_Homo sapiens_hsa03022	0.65936162
66	Metabolic pathways_Homo sapiens_hsa01100	0.65113768
67	Dopaminergic synapse_Homo sapiens_hsa04728	0.65008656
68	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.64699873
69	Tight junction_Homo sapiens_hsa04530	0.64040922
70	Ribosome_Homo sapiens_hsa03010	0.62742474
71	Mismatch repair_Homo sapiens_hsa03430	0.62176894
72	Shigellosis_Homo sapiens_hsa05131	0.60726096
73	Spliceosome_Homo sapiens_hsa03040	0.56698036
74	Fatty acid metabolism_Homo sapiens_hsa01212	0.56403221
75	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.56050143
76	Arginine and proline metabolism_Homo sapiens_hsa00330	0.55560908
77	GABAergic synapse_Homo sapiens_hsa04727	0.54380507
78	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.54042767
79	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.52181003
80	Lysosome_Homo sapiens_hsa04142	0.51632130
81	Melanogenesis_Homo sapiens_hsa04916	0.50319792
82	Peroxisome_Homo sapiens_hsa04146	0.50073456
83	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.49648157
84	Wnt signaling pathway_Homo sapiens_hsa04310	0.48803953
85	Fanconi anemia pathway_Homo sapiens_hsa03460	0.47033252
86	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.45894035
87	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.45409565
88	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.45357378
89	beta-Alanine metabolism_Homo sapiens_hsa00410	0.45122618
90	Protein digestion and absorption_Homo sapiens_hsa04974	0.44931854
91	Propanoate metabolism_Homo sapiens_hsa00640	0.44557171
92	Endocytosis_Homo sapiens_hsa04144	0.43309554
93	Tyrosine metabolism_Homo sapiens_hsa00350	0.42373212
94	Proteoglycans in cancer_Homo sapiens_hsa05205	0.42310057
95	Butanoate metabolism_Homo sapiens_hsa00650	0.41678330
96	Regulation of autophagy_Homo sapiens_hsa04140	0.41265089
97	RNA transport_Homo sapiens_hsa03013	0.41062364
98	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.40652421
99	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.39577535
100	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.39059498

FAM127C

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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