ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of cilium movement (GO:0003352)	5.44395484
2	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	5.42621490
3	single strand break repair (GO:0000012)	5.12720214
4	tyrosine phosphorylation of STAT protein (GO:0007260)	4.89891239
5	negative regulation of gluconeogenesis (GO:0045721)	4.82816581
6	spermatid nucleus differentiation (GO:0007289)	4.67779033
7	glycerophospholipid catabolic process (GO:0046475)	4.60057033
8	retinal cone cell development (GO:0046549)	4.57803986
9	N-acetylglucosamine metabolic process (GO:0006044)	4.41209216
10	cellular response to sterol (GO:0036315)	4.15248686
11	artery smooth muscle contraction (GO:0014824)	4.11803341
12	cellular response to cholesterol (GO:0071397)	3.92116799
13	adaptation of signaling pathway (GO:0023058)	3.91180392
14	response to pheromone (GO:0019236)	3.90668879
15	protoporphyrinogen IX biosynthetic process (GO:0006782)	3.89342545
16	acrosome assembly (GO:0001675)	3.82663766
17	ribosome assembly (GO:0042255)	3.72891342
18	platelet dense granule organization (GO:0060155)	3.71612940
19	tonic smooth muscle contraction (GO:0014820)	3.71454832
20	prostate gland growth (GO:0060736)	3.70108064
21	early endosome to late endosome transport (GO:0045022)	3.64880728
22	axoneme assembly (GO:0035082)	3.63090113
23	positive regulation of CREB transcription factor activity (GO:0032793)	3.58384478
24	protein ADP-ribosylation (GO:0006471)	3.56498798
25	cilium or flagellum-dependent cell motility (GO:0001539)	3.49735402
26	isoprenoid biosynthetic process (GO:0008299)	3.45845104
27	organ induction (GO:0001759)	3.43830007
28	lung secretory cell differentiation (GO:0061140)	3.42748631
29	positive regulation of action potential (GO:0045760)	3.39766596
30	regulation of pigment cell differentiation (GO:0050932)	3.38855869
31	hematopoietic stem cell proliferation (GO:0071425)	3.37220059
32	regulation of microtubule-based movement (GO:0060632)	3.35774906
33	regulation of telomere maintenance via telomerase (GO:0032210)	3.32933577
34	COPII vesicle coating (GO:0048208)	3.32916921
35	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.31118752
36	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.30418821
37	glycosphingolipid biosynthetic process (GO:0006688)	3.26017603
38	cell wall macromolecule catabolic process (GO:0016998)	3.18010283
39	regulation of integrin-mediated signaling pathway (GO:2001044)	3.17832730
40	ER overload response (GO:0006983)	3.13960087
41	angiogenesis involved in wound healing (GO:0060055)	3.13602664
42	cytidine deamination (GO:0009972)	3.13511324
43	cytidine metabolic process (GO:0046087)	3.13511324
44	cytidine catabolic process (GO:0006216)	3.13511324
45	response to sterol (GO:0036314)	3.12244292
46	phosphatidylcholine acyl-chain remodeling (GO:0036151)	3.10667551
47	response to gravity (GO:0009629)	3.06584606
48	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.02761085
49	regulation of Golgi to plasma membrane protein transport (GO:0042996)	2.97713105
50	regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)	2.95892457
51	positive regulation of SMAD protein import into nucleus (GO:0060391)	2.90175238
52	prenylation (GO:0097354)	2.90173452
53	protein prenylation (GO:0018342)	2.90173452
54	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.87362929
55	microtubule severing (GO:0051013)	2.85109222
56	response to cholesterol (GO:0070723)	2.81757906
57	lung lobe morphogenesis (GO:0060463)	2.80797361
58	nonmotile primary cilium assembly (GO:0035058)	2.80607680
59	rRNA catabolic process (GO:0016075)	2.79902470
60	cellular response to ATP (GO:0071318)	2.79356838
61	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.76340968
62	protein-chromophore linkage (GO:0018298)	2.74028316
63	mesenchymal-epithelial cell signaling (GO:0060638)	2.72301622
64	triglyceride homeostasis (GO:0070328)	2.70990975
65	acylglycerol homeostasis (GO:0055090)	2.70990975
66	lung vasculature development (GO:0060426)	2.70974065
67	regulation of macrophage cytokine production (GO:0010935)	2.68307330
68	regulation of telomere maintenance (GO:0032204)	2.67819515
69	cardiac epithelial to mesenchymal transition (GO:0060317)	2.67422649
70	negative regulation of systemic arterial blood pressure (GO:0003085)	2.67082137
71	pyrimidine dimer repair (GO:0006290)	2.63643191
72	regulation of translation in response to stress (GO:0043555)	2.61191624
73	negative regulation of chondrocyte differentiation (GO:0032331)	2.60093686
74	mammary gland development (GO:0030879)	2.59730560
75	negative regulation of NF-kappaB import into nucleus (GO:0042347)	2.59630395
76	pyrimidine-containing compound salvage (GO:0008655)	2.58773532
77	pyrimidine nucleoside salvage (GO:0043097)	2.58773532
78	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.58033797
79	sialylation (GO:0097503)	2.55950400
80	histone H4-K8 acetylation (GO:0043982)	2.55671660
81	histone H4-K5 acetylation (GO:0043981)	2.55671660
82	cranial suture morphogenesis (GO:0060363)	2.53051906
83	protoporphyrinogen IX metabolic process (GO:0046501)	2.52811558
84	behavioral response to nicotine (GO:0035095)	2.52276762
85	activated T cell proliferation (GO:0050798)	2.51981428
86	ER to Golgi vesicle-mediated transport (GO:0006888)	2.51753865
87	cell wall macromolecule metabolic process (GO:0044036)	2.50838031
88	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	2.50693627
89	opioid receptor signaling pathway (GO:0038003)	2.50517360
90	protein localization to cilium (GO:0061512)	2.48589853
91	negative regulation of JUN kinase activity (GO:0043508)	2.47614964
92	ganglioside metabolic process (GO:0001573)	2.46248860
93	intestinal cholesterol absorption (GO:0030299)	2.44222635
94	regulation of female gonad development (GO:2000194)	2.43896658
95	detection of light stimulus involved in visual perception (GO:0050908)	2.42464495
96	detection of light stimulus involved in sensory perception (GO:0050962)	2.42464495
97	intestinal absorption (GO:0050892)	2.41341441
98	synaptic transmission, cholinergic (GO:0007271)	2.41116558
99	glucosamine-containing compound metabolic process (GO:1901071)	2.40881370
100	regulation of organ formation (GO:0003156)	2.40681132

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	5.14576527
2	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	4.53862829
3	VDR_22108803_ChIP-Seq_LS180_Human	3.90333984
4	SMAD_19615063_ChIP-ChIP_OVARY_Human	3.63989390
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.73569160
6	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.65138958
7	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.64288133
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.59590727
9	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.48524092
10	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.36142394
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.23135227
12	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	2.23065341
13	AR_21572438_ChIP-Seq_LNCaP_Human	2.12801809
14	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.10244809
15	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	2.01774237
16	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.00769647
17	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.00465381
18	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.00006640
19	BRD4_25478319_ChIP-Seq_HGPS_Human	1.96890189
20	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.89747142
21	CBP_20019798_ChIP-Seq_JUKART_Human	1.77595273
22	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.77595273
23	ER_23166858_ChIP-Seq_MCF-7_Human	1.76947694
24	IRF1_19129219_ChIP-ChIP_H3396_Human	1.75868679
25	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.75398704
26	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.68349320
27	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.65393440
28	STAT3_23295773_ChIP-Seq_U87_Human	1.57906239
29	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.54401628
30	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.54319434
31	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.54319434
32	FUS_26573619_Chip-Seq_HEK293_Human	1.52756169
33	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.52369270
34	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50980731
35	CDX2_22108803_ChIP-Seq_LS180_Human	1.50503359
36	VDR_24787735_ChIP-Seq_THP-1_Human	1.49591713
37	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.49161275
38	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.48084650
39	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.47448578
40	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.46671749
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.45793827
42	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.41827188
43	CJUN_26792858_Chip-Seq_BT549_Human	1.41562528
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.40902551
45	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.40310243
46	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.38900488
47	AR_25329375_ChIP-Seq_VCAP_Human	1.38192547
48	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.36863088
49	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.36863088
50	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.34361237
51	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.34000364
52	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32664062
53	P300_19829295_ChIP-Seq_ESCs_Human	1.32337100
54	SMAD4_21799915_ChIP-Seq_A2780_Human	1.30274908
55	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.25452280
56	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.25415336
57	TP53_22573176_ChIP-Seq_HFKS_Human	1.21728137
58	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.21505128
59	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.18516425
60	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.17968534
61	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.15732357
62	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.14404996
63	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.13609311
64	* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.12680613
65	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.12446456
66	* SMAD3_21741376_ChIP-Seq_EPCs_Human	1.11781794
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.11615779
68	SMRT_27268052_Chip-Seq_Bcells_Human	1.11037499
69	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.09768585
70	IGF1R_20145208_ChIP-Seq_DFB_Human	1.09751060
71	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.09710966
72	TCF4_23295773_ChIP-Seq_U87_Human	1.09207858
73	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.09168398
74	NCOR_22424771_ChIP-Seq_293T_Human	1.08638371
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.08441371
76	TP63_23658742_ChIP-Seq_EP156T_Human	1.06870056
77	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.03510122
78	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.03374661
79	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.03124408
80	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.02810565
81	TCF4_22108803_ChIP-Seq_LS180_Human	1.02631568
82	ELK1_19687146_ChIP-ChIP_HELA_Human	1.02238879
83	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00372217
84	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.99681423
85	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.99616513
86	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.99231372
87	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.97563878
88	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	0.95997525
89	EGR1_19374776_ChIP-ChIP_THP-1_Human	0.95930994
90	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.94583558
91	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	0.94142119
92	TAF15_26573619_Chip-Seq_HEK293_Human	0.93878929
93	TP53_16413492_ChIP-PET_HCT116_Human	0.93618572
94	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.93370692
95	RXR_22108803_ChIP-Seq_LS180_Human	0.93253172
96	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.91777268
97	* TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91514813
98	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.90112806
99	NR3C1_23031785_ChIP-Seq_PC12_Mouse	0.90111712
100	EWS_26573619_Chip-Seq_HEK293_Human	0.89628551

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003011_delayed_dark_adaptation	7.29404776
2	MP0008438_abnormal_cutaneous_collagen	5.91415902
3	MP0005503_abnormal_tendon_morphology	4.62285041
4	MP0005275_abnormal_skin_tensile	3.70262509
5	MP0003950_abnormal_plasma_membrane	3.17887145
6	MP0006054_spinal_hemorrhage	2.84827684
7	MP0002282_abnormal_trachea_morphology	2.79968077
8	MP0005551_abnormal_eye_electrophysiolog	2.37945856
9	MP0002254_reproductive_system_inflammat	2.15796098
10	MP0005310_abnormal_salivary_gland	2.15410361
11	MP0003786_premature_aging	2.11407491
12	MP0008877_abnormal_DNA_methylation	1.96299201
13	MP0001984_abnormal_olfaction	1.95857917
14	MP0008775_abnormal_heart_ventricle	1.92045575
15	MP0002108_abnormal_muscle_morphology	1.91145073
16	MP0003787_abnormal_imprinting	1.90787796
17	MP0003279_aneurysm	1.78718399
18	MP0002102_abnormal_ear_morphology	1.78359751
19	MP0002139_abnormal_hepatobiliary_system	1.75344237
20	MP0004019_abnormal_vitamin_homeostasis	1.66602288
21	MP0002332_abnormal_exercise_endurance	1.62904904
22	MP0003195_calcinosis	1.58500525
23	MP0002295_abnormal_pulmonary_circulatio	1.51078344
24	MP0005253_abnormal_eye_physiology	1.44627023
25	MP0002933_joint_inflammation	1.39111975
26	MP0002138_abnormal_hepatobiliary_system	1.38081008
27	MP0005410_abnormal_fertilization	1.37269873
28	MP0008995_early_reproductive_senescence	1.32926388
29	MP0002168_other_aberrant_phenotype	1.31767833
30	MP0004272_abnormal_basement_membrane	1.29928838
31	MP0004142_abnormal_muscle_tone	1.28410867
32	MP0000538_abnormal_urinary_bladder	1.28188149
33	MP0003191_abnormal_cellular_cholesterol	1.27689747
34	MP0005187_abnormal_penis_morphology	1.25388474
35	MP0008004_abnormal_stomach_pH	1.20024831
36	MP0005171_absent_coat_pigmentation	1.17773574
37	MP0004484_altered_response_of	1.16324797
38	MP0001501_abnormal_sleep_pattern	1.15513800
39	MP0001502_abnormal_circadian_rhythm	1.15200688
40	MP0000749_muscle_degeneration	1.14813223
41	MP0002736_abnormal_nociception_after	1.13506572
42	MP0002837_dystrophic_cardiac_calcinosis	1.12886479
43	MP0000767_abnormal_smooth_muscle	1.09610027
44	MP0004883_abnormal_blood_vessel	1.07261675
45	MP0003890_abnormal_embryonic-extraembry	1.06565843
46	MP0010386_abnormal_urinary_bladder	1.05896679
47	MP0008260_abnormal_autophagy	1.04943859
48	MP0001879_abnormal_lymphatic_vessel	1.04223515
49	MP0003638_abnormal_response/metabolism_	1.03951054
50	MP0001542_abnormal_bone_strength	1.03085740
51	MP0005595_abnormal_vascular_smooth	1.02236522
52	MP0001851_eye_inflammation	1.01949788
53	MP0009764_decreased_sensitivity_to	0.99970250
54	MP0005508_abnormal_skeleton_morphology	0.98754456
55	MP0003567_abnormal_fetal_cardiomyocyte	0.96106390
56	MP0002060_abnormal_skin_morphology	0.94013615
57	MP0005375_adipose_tissue_phenotype	0.93187888
58	MP0010678_abnormal_skin_adnexa	0.91458861
59	MP0006072_abnormal_retinal_apoptosis	0.90364651
60	MP0005164_abnormal_response_to	0.86346272
61	MP0004233_abnormal_muscle_weight	0.83077573
62	MP0001881_abnormal_mammary_gland	0.81286907
63	MP0008058_abnormal_DNA_repair	0.80796424
64	MP0005666_abnormal_adipose_tissue	0.80444847
65	MP0000003_abnormal_adipose_tissue	0.77728506
66	MP0000516_abnormal_urinary_system	0.76984487
67	MP0005367_renal/urinary_system_phenotyp	0.76984487
68	MP0004145_abnormal_muscle_electrophysio	0.74814678
69	MP0000372_irregular_coat_pigmentation	0.74128024
70	MP0001968_abnormal_touch/_nociception	0.73422899
71	MP0002272_abnormal_nervous_system	0.70342120
72	MP0001915_intracranial_hemorrhage	0.69810770
73	MP0004782_abnormal_surfactant_physiolog	0.68364633
74	MP0009780_abnormal_chondrocyte_physiolo	0.68017130
75	MP0005332_abnormal_amino_acid	0.66894920
76	MP0001853_heart_inflammation	0.66464707
77	MP0003221_abnormal_cardiomyocyte_apopto	0.65960609
78	MP0003045_fibrosis	0.64339859
79	MP0005369_muscle_phenotype	0.64026552
80	MP0001666_abnormal_nutrient_absorption	0.63686508
81	MP0003943_abnormal_hepatobiliary_system	0.62664394
82	MP0000163_abnormal_cartilage_morphology	0.62263487
83	MP0005167_abnormal_blood-brain_barrier	0.60551984
84	MP0003828_pulmonary_edema	0.60428595
85	MP0005390_skeleton_phenotype	0.59807519
86	MP0002135_abnormal_kidney_morphology	0.59650643
87	MP0002233_abnormal_nose_morphology	0.58946351
88	MP0001764_abnormal_homeostasis	0.57537173
89	MP0009053_abnormal_anal_canal	0.56597661
90	MP0005266_abnormal_metabolism	0.56089118
91	MP0005376_homeostasis/metabolism_phenot	0.55933568
92	MP0002133_abnormal_respiratory_system	0.55556974
93	MP0005388_respiratory_system_phenotype	0.55556974
94	MP0002405_respiratory_system_inflammati	0.53964888
95	MP0010368_abnormal_lymphatic_system	0.53167887
96	MP0005397_hematopoietic_system_phenotyp	0.52892297
97	MP0001545_abnormal_hematopoietic_system	0.52892297
98	MP0001486_abnormal_startle_reflex	0.52167838
99	MP0010329_abnormal_lipoprotein_level	0.50544512
100	MP0001119_abnormal_female_reproductive	0.49952992

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Elevated erythrocyte sedimentation rate (HP:0003565)	5.15407605
2	Medial flaring of the eyebrow (HP:0010747)	4.49022582
3	Peritonitis (HP:0002586)	4.15959705
4	Abnormal biliary tract physiology (HP:0012439)	4.01580526
5	Bile duct proliferation (HP:0001408)	4.01580526
6	Decreased muscle mass (HP:0003199)	3.87945315
7	Chronic hepatic failure (HP:0100626)	3.76541272
8	Action tremor (HP:0002345)	3.71299753
9	Pendular nystagmus (HP:0012043)	3.59823067
10	Increased corneal curvature (HP:0100692)	3.51890744
11	Keratoconus (HP:0000563)	3.51890744
12	Progressive cerebellar ataxia (HP:0002073)	3.45482883
13	Constricted visual fields (HP:0001133)	3.43119758
14	Buphthalmos (HP:0000557)	3.36622898
15	Congenital primary aphakia (HP:0007707)	3.28508229
16	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	3.21018819
17	Gait imbalance (HP:0002141)	3.17418068
18	Wrist flexion contracture (HP:0001239)	3.15134207
19	Hemiparesis (HP:0001269)	3.10556689
20	Narrow nasal bridge (HP:0000446)	3.01485069
21	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.99639567
22	Absent/shortened dynein arms (HP:0200106)	2.99639567
23	Abnormal hair whorl (HP:0010721)	2.97644911
24	Hypercholesterolemia (HP:0003124)	2.91015100
25	Nephrogenic diabetes insipidus (HP:0009806)	2.85203335
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.81517972
27	Adactyly (HP:0009776)	2.76892693
28	Follicular hyperkeratosis (HP:0007502)	2.70988579
29	Abnormal albumin level (HP:0012116)	2.63101931
30	Hypoalbuminemia (HP:0003073)	2.63101931
31	Right ventricular cardiomyopathy (HP:0011663)	2.62641856
32	Choroideremia (HP:0001139)	2.61487954
33	Infertility (HP:0000789)	2.54551156
34	Abnormal gallbladder physiology (HP:0012438)	2.54100783
35	Cholecystitis (HP:0001082)	2.54100783
36	Aplasia/Hypoplasia of the lens (HP:0008063)	2.47908088
37	True hermaphroditism (HP:0010459)	2.44068009
38	Metaphyseal dysplasia (HP:0100255)	2.43718677
39	Blue sclerae (HP:0000592)	2.41643406
40	Abnormal rod and cone electroretinograms (HP:0008323)	2.37972339
41	Anterior segment dysgenesis (HP:0007700)	2.37894881
42	Nephronophthisis (HP:0000090)	2.32193873
43	Alopecia of scalp (HP:0002293)	2.29506924
44	Birth length less than 3rd percentile (HP:0003561)	2.27733624
45	Poor coordination (HP:0002370)	2.25388525
46	Congenital glaucoma (HP:0001087)	2.17591764
47	Occipital encephalocele (HP:0002085)	2.14120591
48	Depressed nasal tip (HP:0000437)	2.12752247
49	Hip dysplasia (HP:0001385)	2.11732600
50	Large for gestational age (HP:0001520)	2.10492695
51	Abnormality of the anterior chamber (HP:0000593)	2.03935625
52	Insidious onset (HP:0003587)	2.03466371
53	Termporal pattern (HP:0011008)	2.03466371
54	Abnormality of the renal medulla (HP:0100957)	2.03435904
55	Widely spaced teeth (HP:0000687)	2.02708404
56	Abnormal ciliary motility (HP:0012262)	2.01972458
57	Genetic anticipation (HP:0003743)	2.00608462
58	Renal cortical cysts (HP:0000803)	2.00121024
59	3-Methylglutaconic aciduria (HP:0003535)	1.98163458
60	Abnormality of the pupil (HP:0000615)	1.96667070
61	Pancreatic fibrosis (HP:0100732)	1.96582734
62	Corneal dystrophy (HP:0001131)	1.96407841
63	Parakeratosis (HP:0001036)	1.95439504
64	Abnormal respiratory epithelium morphology (HP:0012253)	1.93992359
65	Abnormal respiratory motile cilium morphology (HP:0005938)	1.93992359
66	Mesomelia (HP:0003027)	1.93875189
67	Molar tooth sign on MRI (HP:0002419)	1.93173665
68	Abnormality of midbrain morphology (HP:0002418)	1.93173665
69	Pancreatic cysts (HP:0001737)	1.93102191
70	Thyroiditis (HP:0100646)	1.91745424
71	Tubulointerstitial nephritis (HP:0001970)	1.90835093
72	Abnormality of the renal cortex (HP:0011035)	1.89001522
73	Irregular vertebral endplates (HP:0003301)	1.86887758
74	Soft skin (HP:0000977)	1.86472459
75	Spinal muscular atrophy (HP:0007269)	1.85448823
76	Vaginal atresia (HP:0000148)	1.84779651
77	Coxa valga (HP:0002673)	1.83963084
78	Prominent supraorbital ridges (HP:0000336)	1.83539568
79	Hyperlipoproteinemia (HP:0010980)	1.82259569
80	Stillbirth (HP:0003826)	1.81819114
81	Genital tract atresia (HP:0001827)	1.80171293
82	Short foot (HP:0001773)	1.80148420
83	Heterochromia iridis (HP:0001100)	1.76326629
84	Autoimmune thrombocytopenia (HP:0001973)	1.74810196
85	Pterygium (HP:0001059)	1.73142516
86	Gaze-evoked nystagmus (HP:0000640)	1.73130462
87	Enlarged epiphyses (HP:0010580)	1.71973921
88	Postaxial foot polydactyly (HP:0001830)	1.71597811
89	Abnormality of the peritoneum (HP:0002585)	1.71245728
90	Myocardial infarction (HP:0001658)	1.70770657
91	Premature skin wrinkling (HP:0100678)	1.70124553
92	Abnormality of macular pigmentation (HP:0008002)	1.69854527
93	Abnormality of dentin (HP:0010299)	1.69815241
94	Hypodontia (HP:0000668)	1.69405810
95	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.66186793
96	Retinitis pigmentosa (HP:0000510)	1.65925831
97	Arthropathy (HP:0003040)	1.65855329
98	Hypochromic anemia (HP:0001931)	1.64363191
99	Portal hypertension (HP:0001409)	1.64213106
100	Proximal tubulopathy (HP:0000114)	1.63828183

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EIF2AK3	7.25442353
2	FRK	4.60396622
3	TEC	3.51161734
4	BMPR1B	3.42359386
5	MAP3K12	2.90077399
6	EPHB2	2.19842819
7	KSR2	2.10821403
8	SIK3	1.98020657
9	PIK3CA	1.94327927
10	NUAK1	1.85063062
11	ADRBK2	1.83468345
12	ITK	1.82034784
13	AKT3	1.73744162
14	PINK1	1.65283081
15	MUSK	1.57239498
16	RAF1	1.49232202
17	ACVR1B	1.47097948
18	PAK3	1.44509598
19	STK39	1.42665066
20	MAP3K2	1.40005543
21	TGFBR2	1.36190002
22	LATS1	1.33794019
23	BRD4	1.32620888
24	TAOK3	1.31219267
25	KSR1	1.29430978
26	MAP4K2	1.28341458
27	CDK8	1.27949593
28	STK3	1.26773207
29	MKNK2	1.26027108
30	TIE1	1.24587964
31	OXSR1	1.24532652
32	EIF2AK1	1.16345140
33	BTK	1.08215337
34	FES	1.05543849
35	MKNK1	1.05109913
36	STK16	1.04728397
37	MAPK7	1.03302288
38	WNK3	1.01670579
39	BCKDK	1.00610149
40	TAF1	0.97019460
41	DMPK	0.94688903
42	FER	0.92586532
43	PRKD2	0.91346209
44	EIF2AK2	0.87315405
45	BMPR2	0.87243733
46	WNK4	0.84832129
47	PLK2	0.84505924
48	BCR	0.83209111
49	MAP3K4	0.81343802
50	MYLK	0.77682523
51	MAP2K1	0.75186568
52	DYRK1A	0.74635714
53	NLK	0.74456004
54	TYK2	0.74297279
55	HCK	0.71566835
56	MAP2K2	0.71239248
57	PDGFRB	0.69778954
58	GRK1	0.68081141
59	MAP3K9	0.67887076
60	IKBKB	0.66871927
61	DYRK2	0.65462173
62	TNK2	0.65002239
63	NTRK3	0.64846094
64	RPS6KA5	0.64048534
65	RET	0.56901036
66	PRKCE	0.53924465
67	MAP3K3	0.53452168
68	PTK2B	0.53252928
69	CSNK1G1	0.53141495
70	CSNK1A1L	0.53046543
71	CSNK1G2	0.50557198
72	STK11	0.49790309
73	CLK1	0.49638329
74	GRK5	0.48435518
75	ABL1	0.47929900
76	TGFBR1	0.47417550
77	MAPK15	0.46486069
78	ADRBK1	0.46475010
79	CSNK1G3	0.45351346
80	PRKCQ	0.43852941
81	TRPM7	0.42997451
82	CSK	0.42746404
83	CDK3	0.42015176
84	PKN1	0.41513630
85	FGFR2	0.40964975
86	INSRR	0.38976542
87	KIT	0.37536891
88	IGF1R	0.36747591
89	BRSK2	0.36638940
90	CAMK1	0.32682428
91	EPHA4	0.32587304
92	MAP3K5	0.31557432
93	PAK6	0.31505684
94	MARK3	0.30074927
95	PIK3CG	0.29243626
96	MAP3K10	0.27082419
97	MAPK1	0.26605175
98	FGFR3	0.26205614
99	PRKG1	0.23935551
100	IRAK2	0.23027440

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Linoleic acid metabolism_Homo sapiens_hsa00591	3.35910356
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	3.18662545
3	Ether lipid metabolism_Homo sapiens_hsa00565	3.05089621
4	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	3.00798483
5	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.77908364
6	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.73420726
7	ABC transporters_Homo sapiens_hsa02010	2.49829768
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.40918248
9	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	2.38988927
10	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.20626595
11	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.07765947
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.05978116
13	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.85193554
14	Complement and coagulation cascades_Homo sapiens_hsa04610	1.77386190
15	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.77158818
16	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.75415809
17	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.75357010
18	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.72460874
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.71351009
20	Sphingolipid metabolism_Homo sapiens_hsa00600	1.63312525
21	Fat digestion and absorption_Homo sapiens_hsa04975	1.56443358
22	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.49169276
23	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.42548105
24	Long-term depression_Homo sapiens_hsa04730	1.40360662
25	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.35611616
26	Steroid biosynthesis_Homo sapiens_hsa00100	1.35082961
27	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.33596325
28	Circadian rhythm_Homo sapiens_hsa04710	1.26160294
29	Phototransduction_Homo sapiens_hsa04744	1.23035423
30	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.18840219
31	Colorectal cancer_Homo sapiens_hsa05210	1.15354715
32	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.14327750
33	Platelet activation_Homo sapiens_hsa04611	1.12010016
34	beta-Alanine metabolism_Homo sapiens_hsa00410	1.11688019
35	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.09823153
36	HIF-1 signaling pathway_Homo sapiens_hsa04066	1.07951644
37	mTOR signaling pathway_Homo sapiens_hsa04150	1.04447675
38	Pertussis_Homo sapiens_hsa05133	1.02457908
39	Pancreatic cancer_Homo sapiens_hsa05212	1.01793029
40	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.98421545
41	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.96986325
42	Glycerolipid metabolism_Homo sapiens_hsa00561	0.94959882
43	Circadian entrainment_Homo sapiens_hsa04713	0.89458812
44	Melanoma_Homo sapiens_hsa05218	0.85732606
45	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.82612506
46	Chemical carcinogenesis_Homo sapiens_hsa05204	0.81963442
47	Basal transcription factors_Homo sapiens_hsa03022	0.76550154
48	Mineral absorption_Homo sapiens_hsa04978	0.75437557
49	p53 signaling pathway_Homo sapiens_hsa04115	0.75063204
50	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.73742892
51	RNA degradation_Homo sapiens_hsa03018	0.72340622
52	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.70628016
53	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.69867814
54	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.69824856
55	Choline metabolism in cancer_Homo sapiens_hsa05231	0.69774666
56	Fatty acid elongation_Homo sapiens_hsa00062	0.68561379
57	Renal cell carcinoma_Homo sapiens_hsa05211	0.66515687
58	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.66195238
59	Serotonergic synapse_Homo sapiens_hsa04726	0.65525132
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63692783
61	Sulfur relay system_Homo sapiens_hsa04122	0.63220177
62	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.60414659
63	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.59569238
64	Phenylalanine metabolism_Homo sapiens_hsa00360	0.59101787
65	Malaria_Homo sapiens_hsa05144	0.58996042
66	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.58567163
67	Glutathione metabolism_Homo sapiens_hsa00480	0.57842722
68	Morphine addiction_Homo sapiens_hsa05032	0.57822122
69	Renin-angiotensin system_Homo sapiens_hsa04614	0.56669998
70	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.56499210
71	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.54778331
72	Ras signaling pathway_Homo sapiens_hsa04014	0.53742265
73	Lysine degradation_Homo sapiens_hsa00310	0.52452965
74	Proteoglycans in cancer_Homo sapiens_hsa05205	0.52352185
75	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.50742273
76	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.47835664
77	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.47815847
78	Cholinergic synapse_Homo sapiens_hsa04725	0.46444389
79	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	0.44465139
80	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.43383747
81	Sulfur metabolism_Homo sapiens_hsa00920	0.43113131
82	Focal adhesion_Homo sapiens_hsa04510	0.43098037
83	Tryptophan metabolism_Homo sapiens_hsa00380	0.41804943
84	FoxO signaling pathway_Homo sapiens_hsa04068	0.41551195
85	Adherens junction_Homo sapiens_hsa04520	0.41200866
86	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.40648100
87	TNF signaling pathway_Homo sapiens_hsa04668	0.38758668
88	Arginine and proline metabolism_Homo sapiens_hsa00330	0.34520808
89	Prostate cancer_Homo sapiens_hsa05215	0.34451530
90	Calcium signaling pathway_Homo sapiens_hsa04020	0.34254523
91	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.32907454
92	Tyrosine metabolism_Homo sapiens_hsa00350	0.31880516
93	ECM-receptor interaction_Homo sapiens_hsa04512	0.30898190
94	Retinol metabolism_Homo sapiens_hsa00830	0.30223230
95	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.29697729
96	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.28730713
97	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.28508225
98	Amoebiasis_Homo sapiens_hsa05146	0.28361967
99	Rheumatoid arthritis_Homo sapiens_hsa05323	0.27760325
100	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.27459460

C12ORF71

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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