ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	pyrimidine nucleobase catabolic process (GO:0006208)	5.75506589
2	regulation of cilium movement (GO:0003352)	5.09501122
3	nucleobase catabolic process (GO:0046113)	4.72894700
4	protein polyglutamylation (GO:0018095)	4.61388748
5	positive regulation of mitochondrial fission (GO:0090141)	4.47347175
6	retinal cone cell development (GO:0046549)	4.01137101
7	cellular ketone body metabolic process (GO:0046950)	3.98916780
8	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.85762266
9	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.85762266
10	coenzyme catabolic process (GO:0009109)	3.83863923
11	mannosylation (GO:0097502)	3.72325993
12	platelet dense granule organization (GO:0060155)	3.68489066
13	cellular response to leptin stimulus (GO:0044320)	3.66642647
14	ketone body metabolic process (GO:1902224)	3.54032119
15	C-terminal protein lipidation (GO:0006501)	3.47425966
16	single strand break repair (GO:0000012)	3.46872867
17	nucleotide transmembrane transport (GO:1901679)	3.44849684
18	cullin deneddylation (GO:0010388)	3.41398005
19	branched-chain amino acid catabolic process (GO:0009083)	3.40496013
20	iron-sulfur cluster assembly (GO:0016226)	3.39549441
21	metallo-sulfur cluster assembly (GO:0031163)	3.39549441
22	nonmotile primary cilium assembly (GO:0035058)	3.36515222
23	peptidyl-histidine modification (GO:0018202)	3.29607045
24	regulation of microtubule-based movement (GO:0060632)	3.17000333
25	DNA damage response, detection of DNA damage (GO:0042769)	3.15872772
26	axoneme assembly (GO:0035082)	3.15106125
27	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	3.13942139
28	response to pheromone (GO:0019236)	3.12382849
29	preassembly of GPI anchor in ER membrane (GO:0016254)	3.10891192
30	brain morphogenesis (GO:0048854)	3.10174027
31	anterograde synaptic vesicle transport (GO:0048490)	3.08409724
32	protein complex biogenesis (GO:0070271)	3.06122914
33	artery smooth muscle contraction (GO:0014824)	3.01407795
34	respiratory chain complex IV assembly (GO:0008535)	2.99858569
35	C-terminal protein amino acid modification (GO:0018410)	2.98992253
36	peptidyl-cysteine modification (GO:0018198)	2.98672507
37	GPI anchor metabolic process (GO:0006505)	2.94601525
38	regulation of mitochondrial fission (GO:0090140)	2.93713698
39	mitochondrial respiratory chain complex assembly (GO:0033108)	2.93182616
40	protein deneddylation (GO:0000338)	2.92785794
41	DNA double-strand break processing (GO:0000729)	2.92558077
42	DNA integration (GO:0015074)	2.92059732
43	vascular smooth muscle contraction (GO:0014829)	2.88264594
44	cell wall macromolecule catabolic process (GO:0016998)	2.88085188
45	mitochondrial fission (GO:0000266)	2.85392592
46	glycerophospholipid catabolic process (GO:0046475)	2.83567038
47	response to leptin (GO:0044321)	2.82184289
48	cholesterol biosynthetic process (GO:0006695)	2.81790080
49	retinal ganglion cell axon guidance (GO:0031290)	2.81426425
50	intraciliary transport (GO:0042073)	2.81158675
51	adenosine metabolic process (GO:0046085)	2.80679532
52	short-term memory (GO:0007614)	2.75992792
53	regulation of mitochondrial translation (GO:0070129)	2.73594233
54	microtubule severing (GO:0051013)	2.73270578
55	positive regulation of amino acid transport (GO:0051957)	2.70911400
56	sperm motility (GO:0030317)	2.70879833
57	cytochrome complex assembly (GO:0017004)	2.70210214
58	cofactor catabolic process (GO:0051187)	2.70099310
59	regulation of feeding behavior (GO:0060259)	2.68373603
60	GPI anchor biosynthetic process (GO:0006506)	2.68099540
61	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.67447164
62	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.67447164
63	NADH dehydrogenase complex assembly (GO:0010257)	2.67447164
64	microtubule depolymerization (GO:0007019)	2.67102653
65	presynaptic membrane assembly (GO:0097105)	2.65611138
66	melanosome transport (GO:0032402)	2.64978441
67	ubiquinone metabolic process (GO:0006743)	2.64391101
68	photoreceptor cell development (GO:0042461)	2.64042406
69	protoporphyrinogen IX biosynthetic process (GO:0006782)	2.62819765
70	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.62553745
71	acrosome reaction (GO:0007340)	2.62518228
72	eye photoreceptor cell development (GO:0042462)	2.61251918
73	establishment of melanosome localization (GO:0032401)	2.60947023
74	cilium morphogenesis (GO:0060271)	2.60613317
75	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.60261096
76	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	2.60061417
77	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.59382678
78	ubiquinone biosynthetic process (GO:0006744)	2.58413725
79	regulation of glutamate secretion (GO:0014048)	2.58218428
80	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.57639713
81	negative regulation of amino acid transport (GO:0051956)	2.56714064
82	tonic smooth muscle contraction (GO:0014820)	2.55957230
83	regulation of memory T cell differentiation (GO:0043380)	2.53792564
84	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.53368455
85	glial cell proliferation (GO:0014009)	2.53319909
86	cell wall macromolecule metabolic process (GO:0044036)	2.52307749
87	pigment granule transport (GO:0051904)	2.52037510
88	postsynaptic membrane organization (GO:0001941)	2.51825702
89	photoreceptor cell maintenance (GO:0045494)	2.51179152
90	sterol biosynthetic process (GO:0016126)	2.49908780
91	histone H2A acetylation (GO:0043968)	2.49829521
92	establishment of pigment granule localization (GO:0051905)	2.48744020
93	cilium assembly (GO:0042384)	2.48481356
94	protein neddylation (GO:0045116)	2.47457092
95	presynaptic membrane organization (GO:0097090)	2.47354915
96	dendritic spine morphogenesis (GO:0060997)	2.47104313
97	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.46095667
98	cilium organization (GO:0044782)	2.45586854
99	positive regulation of TOR signaling (GO:0032008)	2.45203567
100	sequestering of actin monomers (GO:0042989)	2.45136076

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	IGF1R_20145208_ChIP-Seq_DFB_Human	3.66987729
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.56058210
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.24024153
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.13110126
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	3.11950718
6	GBX2_23144817_ChIP-Seq_PC3_Human	3.09200126
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.91582179
8	TAF15_26573619_Chip-Seq_HEK293_Human	2.75812281
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.45709808
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.42956289
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.42489801
12	FUS_26573619_Chip-Seq_HEK293_Human	2.27020069
13	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.24605979
14	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.10662646
15	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.10458676
16	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.08064328
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.03395695
18	EWS_26573619_Chip-Seq_HEK293_Human	1.98707323
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.97823419
20	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.96955498
21	P300_19829295_ChIP-Seq_ESCs_Human	1.92873514
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.86941522
23	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.81890566
24	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.80642233
25	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.77812966
26	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.76443951
27	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.72110639
28	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.71796821
29	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.67576669
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.66689714
31	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.64846280
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.61099803
33	ELK1_19687146_ChIP-ChIP_HELA_Human	1.59029468
34	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56950351
35	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.55921104
36	VDR_23849224_ChIP-Seq_CD4+_Human	1.50772603
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.50286608
38	VDR_22108803_ChIP-Seq_LS180_Human	1.48878880
39	CBP_20019798_ChIP-Seq_JUKART_Human	1.47963126
40	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.47963126
41	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.45972031
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.42598286
43	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.41731897
44	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.39978481
45	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.37111086
46	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.35455424
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34314113
48	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.32392039
49	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.31867571
50	EZH2_22144423_ChIP-Seq_EOC_Human	1.30521210
51	RNF2_27304074_Chip-Seq_NSC_Mouse	1.29787486
52	STAT3_23295773_ChIP-Seq_U87_Human	1.29029040
53	TP53_22573176_ChIP-Seq_HFKS_Human	1.28759406
54	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.28624018
55	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.26905037
56	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.24073379
57	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22967069
58	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22696099
59	DCP1A_22483619_ChIP-Seq_HELA_Human	1.21506905
60	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.20808092
61	TCF4_23295773_ChIP-Seq_U87_Human	1.20752594
62	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.19416693
63	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19163118
64	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.18364354
65	ER_23166858_ChIP-Seq_MCF-7_Human	1.17511977
66	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.16445665
67	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.15096182
68	AR_25329375_ChIP-Seq_VCAP_Human	1.12405955
69	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.12119520
70	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.11235308
71	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.09068927
72	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.08571397
73	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06812853
74	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.06036103
75	RUNX2_22187159_ChIP-Seq_PCA_Human	1.05395195
76	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.04444597
77	SOX9_26525672_Chip-Seq_HEART_Mouse	1.03226245
78	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.02656340
79	BCAT_22108803_ChIP-Seq_LS180_Human	1.02086578
80	MYC_18940864_ChIP-ChIP_HL60_Human	1.01921020
81	GABP_19822575_ChIP-Seq_HepG2_Human	1.01553568
82	AR_20517297_ChIP-Seq_VCAP_Human	1.01120257
83	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.99533239
84	REST_21632747_ChIP-Seq_MESCs_Mouse	0.98015874
85	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.97734736
86	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.96211540
87	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.96161120
88	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.95837180
89	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.95170764
90	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.94266791
91	SOX2_19829295_ChIP-Seq_ESCs_Human	0.94043460
92	NANOG_19829295_ChIP-Seq_ESCs_Human	0.94043460
93	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.93766570
94	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.93623765
95	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.93022596
96	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.92783959
97	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.92702021
98	JUN_21703547_ChIP-Seq_K562_Human	0.92194523
99	P53_22387025_ChIP-Seq_ESCs_Mouse	0.90121721
100	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.89841196

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	3.99821115
2	MP0003880_abnormal_central_pattern	3.40644816
3	MP0001984_abnormal_olfaction	3.22254823
4	MP0000372_irregular_coat_pigmentation	3.19884719
5	MP0002102_abnormal_ear_morphology	3.17792373
6	MP0003011_delayed_dark_adaptation	2.92738577
7	MP0008789_abnormal_olfactory_epithelium	2.64795869
8	MP0004147_increased_porphyrin_level	2.62719973
9	MP0005670_abnormal_white_adipose	2.57533166
10	MP0006276_abnormal_autonomic_nervous	2.52478280
11	MP0002234_abnormal_pharynx_morphology	2.34875192
12	MP0005645_abnormal_hypothalamus_physiol	2.27117717
13	MP0002822_catalepsy	2.20462659
14	MP0005394_taste/olfaction_phenotype	2.18051823
15	MP0005499_abnormal_olfactory_system	2.18051823
16	MP0005253_abnormal_eye_physiology	2.16332620
17	MP0001968_abnormal_touch/_nociception	2.14795514
18	MP0006292_abnormal_olfactory_placode	2.00593492
19	MP0006072_abnormal_retinal_apoptosis	1.96258136
20	MP0003122_maternal_imprinting	1.90534813
21	MP0003656_abnormal_erythrocyte_physiolo	1.87584944
22	MP0002736_abnormal_nociception_after	1.84502254
23	MP0005551_abnormal_eye_electrophysiolog	1.83680969
24	MP0005410_abnormal_fertilization	1.83091259
25	MP0009046_muscle_twitch	1.82106730
26	MP0002638_abnormal_pupillary_reflex	1.76781691
27	MP0004270_analgesia	1.74255215
28	MP0001764_abnormal_homeostasis	1.66326384
29	MP0002909_abnormal_adrenal_gland	1.66108485
30	MP0006035_abnormal_mitochondrial_morpho	1.57352692
31	MP0008872_abnormal_physiological_respon	1.54283067
32	MP0002163_abnormal_gland_morphology	1.47867946
33	MP0006054_spinal_hemorrhage	1.41561949
34	MP0001270_distended_abdomen	1.38721162
35	MP0002272_abnormal_nervous_system	1.38046185
36	MP0002751_abnormal_autonomic_nervous	1.31858650
37	MP0004924_abnormal_behavior	1.31561201
38	MP0005386_behavior/neurological_phenoty	1.31561201
39	MP0009697_abnormal_copulation	1.30906395
40	MP0005379_endocrine/exocrine_gland_phen	1.29475866
41	MP0000516_abnormal_urinary_system	1.29355911
42	MP0005367_renal/urinary_system_phenotyp	1.29355911
43	MP0008058_abnormal_DNA_repair	1.28937661
44	MP0000778_abnormal_nervous_system	1.24261686
45	MP0001486_abnormal_startle_reflex	1.24084861
46	MP0010386_abnormal_urinary_bladder	1.19607800
47	MP0002557_abnormal_social/conspecific_i	1.13091898
48	MP0002332_abnormal_exercise_endurance	1.12262684
49	MP0006036_abnormal_mitochondrial_physio	1.11322923
50	MP0001661_extended_life_span	1.09955202
51	MP0003787_abnormal_imprinting	1.09885815
52	MP0002733_abnormal_thermal_nociception	1.09265227
53	MP0002067_abnormal_sensory_capabilities	1.07909914
54	MP0000631_abnormal_neuroendocrine_gland	1.06429754
55	MP0002160_abnormal_reproductive_system	1.03583865
56	MP0000427_abnormal_hair_cycle	1.03315380
57	MP0008875_abnormal_xenobiotic_pharmacok	1.02596844
58	MP0004742_abnormal_vestibular_system	1.00530668
59	MP0004142_abnormal_muscle_tone	1.00484356
60	MP0005332_abnormal_amino_acid	0.99638529
61	MP0000358_abnormal_cell_content/	0.98440921
62	MP0002184_abnormal_innervation	0.97976216
63	MP0005646_abnormal_pituitary_gland	0.97611028
64	MP0005391_vision/eye_phenotype	0.96740721
65	MP0009745_abnormal_behavioral_response	0.96565475
66	MP0002734_abnormal_mechanical_nocicepti	0.94224977
67	MP0001970_abnormal_pain_threshold	0.92348800
68	MP0005389_reproductive_system_phenotype	0.91987574
69	MP0002572_abnormal_emotion/affect_behav	0.91664915
70	MP0000013_abnormal_adipose_tissue	0.90279062
71	MP0002752_abnormal_somatic_nervous	0.89996679
72	MP0001905_abnormal_dopamine_level	0.89951393
73	MP0002882_abnormal_neuron_morphology	0.86626388
74	MP0003698_abnormal_male_reproductive	0.84793861
75	MP0005266_abnormal_metabolism	0.83881763
76	MP0005636_abnormal_mineral_homeostasis	0.83865207
77	MP0003718_maternal_effect	0.82923630
78	MP0004811_abnormal_neuron_physiology	0.82539360
79	MP0002063_abnormal_learning/memory/cond	0.81451081
80	MP0005195_abnormal_posterior_eye	0.81296039
81	MP0003121_genomic_imprinting	0.79439639
82	MP0003635_abnormal_synaptic_transmissio	0.79358466
83	MP0010329_abnormal_lipoprotein_level	0.79330648
84	MP0003221_abnormal_cardiomyocyte_apopto	0.78453627
85	MP0002233_abnormal_nose_morphology	0.78415100
86	MP0008877_abnormal_DNA_methylation	0.76672492
87	MP0005220_abnormal_exocrine_pancreas	0.76218090
88	MP0002229_neurodegeneration	0.76138520
89	MP0002938_white_spotting	0.74948377
90	MP0000647_abnormal_sebaceous_gland	0.74476217
91	MP0003137_abnormal_impulse_conducting	0.74347974
92	MP0003186_abnormal_redox_activity	0.74094156
93	MP0000955_abnormal_spinal_cord	0.74082719
94	MP0005083_abnormal_biliary_tract	0.73816478
95	MP0002653_abnormal_ependyma_morphology	0.72303532
96	MP0002693_abnormal_pancreas_physiology	0.71764117
97	MP0005084_abnormal_gallbladder_morpholo	0.71746298
98	MP0000639_abnormal_adrenal_gland	0.71338556
99	MP0005248_abnormal_Harderian_gland	0.70887958
100	MP0000049_abnormal_middle_ear	0.70287137

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Medial flaring of the eyebrow (HP:0010747)	4.03926575
2	Gait imbalance (HP:0002141)	3.76670246
3	Congenital primary aphakia (HP:0007707)	3.73411639
4	Acute necrotizing encephalopathy (HP:0006965)	3.44417225
5	Acute encephalopathy (HP:0006846)	3.42831306
6	Nephrogenic diabetes insipidus (HP:0009806)	3.31272318
7	3-Methylglutaconic aciduria (HP:0003535)	3.31215996
8	Polyphagia (HP:0002591)	3.16934547
9	Abnormal mitochondria in muscle tissue (HP:0008316)	3.12022810
10	Progressive macrocephaly (HP:0004481)	3.10790302
11	Molar tooth sign on MRI (HP:0002419)	2.94311794
12	Abnormality of midbrain morphology (HP:0002418)	2.94311794
13	Tubulointerstitial nephritis (HP:0001970)	2.89733299
14	Abnormal gallbladder physiology (HP:0012438)	2.80881530
15	Cholecystitis (HP:0001082)	2.80881530
16	Pancreatic fibrosis (HP:0100732)	2.76088469
17	Pancreatic cysts (HP:0001737)	2.74771514
18	True hermaphroditism (HP:0010459)	2.71700673
19	Intestinal atresia (HP:0011100)	2.68785879
20	Poor coordination (HP:0002370)	2.68453009
21	Genital tract atresia (HP:0001827)	2.63690590
22	Mitochondrial inheritance (HP:0001427)	2.63571740
23	Postaxial foot polydactyly (HP:0001830)	2.58114395
24	Hemiparesis (HP:0001269)	2.57047070
25	Broad foot (HP:0001769)	2.56520691
26	Vaginal atresia (HP:0000148)	2.55755265
27	Abnormality of alanine metabolism (HP:0010916)	2.47478748
28	Hyperalaninemia (HP:0003348)	2.47478748
29	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.47478748
30	Increased CSF lactate (HP:0002490)	2.46249862
31	Hepatocellular necrosis (HP:0001404)	2.45633157
32	Cerebral edema (HP:0002181)	2.41786649
33	Febrile seizures (HP:0002373)	2.40580982
34	Renal cortical cysts (HP:0000803)	2.39489164
35	Attenuation of retinal blood vessels (HP:0007843)	2.38871405
36	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.38770298
37	Retinal dysplasia (HP:0007973)	2.35947316
38	Short tibia (HP:0005736)	2.33432915
39	Exercise-induced muscle cramps (HP:0003710)	2.31316459
40	Pancreatic islet-cell hyperplasia (HP:0004510)	2.30352050
41	Chronic hepatic failure (HP:0100626)	2.30200640
42	Upper limb muscle weakness (HP:0003484)	2.29500091
43	Cortical dysplasia (HP:0002539)	2.28845789
44	Atonic seizures (HP:0010819)	2.28049530
45	Optic disc pallor (HP:0000543)	2.26749065
46	Postaxial hand polydactyly (HP:0001162)	2.26523038
47	Poor suck (HP:0002033)	2.26035490
48	Abnormality of the metopic suture (HP:0005556)	2.25996449
49	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.24074221
50	Abnormal protein N-linked glycosylation (HP:0012347)	2.24074221
51	Abnormal protein glycosylation (HP:0012346)	2.24074221
52	Abnormal glycosylation (HP:0012345)	2.24074221
53	Bifid tongue (HP:0010297)	2.23979110
54	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.20236067
55	Chorioretinal atrophy (HP:0000533)	2.17448345
56	Abnormality of the renal cortex (HP:0011035)	2.15706274
57	Hepatic necrosis (HP:0002605)	2.15198998
58	Specific learning disability (HP:0001328)	2.15194253
59	Epidermoid cyst (HP:0200040)	2.14161232
60	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.13782503
61	Delayed CNS myelination (HP:0002188)	2.12127858
62	Bony spicule pigmentary retinopathy (HP:0007737)	2.11874304
63	Abnormality of the labia minora (HP:0012880)	2.05499867
64	Thyroid-stimulating hormone excess (HP:0002925)	2.04471498
65	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.02667738
66	Hypoplasia of the brainstem (HP:0002365)	2.02667738
67	Hyperglycinemia (HP:0002154)	2.00569502
68	Gaze-evoked nystagmus (HP:0000640)	1.99390723
69	Occipital encephalocele (HP:0002085)	1.99010344
70	EEG with generalized epileptiform discharges (HP:0011198)	1.94721634
71	Generalized myoclonic seizures (HP:0002123)	1.93728230
72	Prominent metopic ridge (HP:0005487)	1.92743098
73	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.91493683
74	Abnormality of dental color (HP:0011073)	1.91182963
75	Abolished electroretinogram (ERG) (HP:0000550)	1.91054290
76	Hyperinsulinemic hypoglycemia (HP:0000825)	1.91013944
77	Nephronophthisis (HP:0000090)	1.90974514
78	Aplasia/Hypoplasia of the lens (HP:0008063)	1.89351324
79	Hypsarrhythmia (HP:0002521)	1.88711648
80	Lissencephaly (HP:0001339)	1.88137678
81	Ketoacidosis (HP:0001993)	1.87549011
82	Lactic acidosis (HP:0003128)	1.87546957
83	Polymicrogyria (HP:0002126)	1.87101414
84	Decreased testicular size (HP:0008734)	1.85956084
85	Preaxial hand polydactyly (HP:0001177)	1.82622560
86	Inability to walk (HP:0002540)	1.82610962
87	Increased serum lactate (HP:0002151)	1.81719923
88	Amblyopia (HP:0000646)	1.80173092
89	Epileptiform EEG discharges (HP:0011182)	1.79533929
90	Respiratory failure (HP:0002878)	1.78470455
91	Pachygyria (HP:0001302)	1.77417564
92	Ketosis (HP:0001946)	1.77375475
93	Drooling (HP:0002307)	1.76599938
94	Congenital hepatic fibrosis (HP:0002612)	1.76359469
95	Aplasia/hypoplasia of the uterus (HP:0008684)	1.75870748
96	Narrow forehead (HP:0000341)	1.74645491
97	Albinism (HP:0001022)	1.73870199
98	Abnormality of glycolysis (HP:0004366)	1.72459886
99	Lethargy (HP:0001254)	1.71714264
100	Tubulointerstitial abnormality (HP:0001969)	1.71237014

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BCKDK	2.23379595
2	MAP4K2	14.3930883
3	NUAK1	1.87415437
4	BCR	1.71000160
5	TRIM28	1.59849961
6	FRK	1.59791142
7	CSNK1G3	1.45241994
8	CASK	1.36184837
9	CSNK1A1L	1.31601087
10	CSNK1G2	1.24997254
11	MARK1	1.23878469
12	ERBB3	1.20920662
13	MAP3K4	1.20883673
14	EPHA4	1.20644583
15	BMPR1B	1.16653948
16	MAPK13	1.15712524
17	CSNK1G1	1.08480078
18	DYRK2	1.05830265
19	PIM2	1.04026071
20	VRK2	1.02404926
21	PLK2	1.01217386
22	GRK1	0.98667248
23	ADRBK2	0.95619210
24	VRK1	0.94627374
25	PAK3	0.92197554
26	AKT3	0.90797593
27	INSRR	0.90338170
28	SRPK1	0.90028840
29	DAPK2	0.84343489
30	MAP2K7	0.83392672
31	WNK3	0.82667169
32	ZAK	0.82236035
33	DAPK1	0.76607900
34	DYRK3	0.73507828
35	TESK1	0.70135313
36	PRKCE	0.67462950
37	PRKD3	0.66668074
38	PLK4	0.65204799
39	RAF1	0.65074168
40	TNIK	0.63566320
41	EPHA3	0.62660583
42	BRSK2	0.56677649
43	GRK5	0.52820411
44	RPS6KA4	0.50292893
45	WNK4	0.48787814
46	LIMK1	0.48053780
47	EIF2AK1	0.47397489
48	CCNB1	0.44824106
49	FER	0.44734426
50	STK39	0.44726037
51	MST1R	0.44217147
52	CDK8	0.40651772
53	DYRK1A	0.39932902
54	LATS1	0.38910230
55	CAMKK2	0.35045993
56	LMTK2	0.34987087
57	EPHB2	0.34600909
58	PAK6	0.33401704
59	MAP3K12	0.33369064
60	KSR1	0.33121069
61	EIF2AK3	0.32991194
62	PLK3	0.32570293
63	CDK3	0.30929138
64	MST4	0.30297530
65	CSNK1A1	0.29180042
66	MKNK1	0.29037356
67	CDK9	0.27918099
68	BMX	0.27673421
69	TLK1	0.27386183
70	PKN1	0.26973488
71	WEE1	0.25859949
72	FLT3	0.25342250
73	ADRBK1	0.25304424
74	PRKAA1	0.25014124
75	PINK1	0.23982061
76	PRKCG	0.23859594
77	STK38L	0.23706750
78	PHKG2	0.23314404
79	PHKG1	0.23314404
80	OXSR1	0.23082284
81	CAMK2B	0.22110275
82	CAMK2D	0.20668834
83	RPS6KA5	0.20633191
84	MUSK	0.20470471
85	CSNK1D	0.20146813
86	NTRK2	0.19719170
87	ATM	0.19362817
88	MYLK	0.18915796
89	CAMK2A	0.18896050
90	MAPKAPK5	0.18730317
91	ROCK1	0.18019212
92	SIK3	0.17894346
93	MATK	0.17815690
94	CDK5	0.17263347
95	DYRK1B	0.16741602
96	PLK1	0.16386965
97	PRKACA	0.15556401
98	PRKACB	0.15034440
99	KDR	0.14511743
100	PRKCZ	0.14491681

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.09884844
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.18494695
3	Butanoate metabolism_Homo sapiens_hsa00650	2.40428441
4	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.38914159
5	Steroid biosynthesis_Homo sapiens_hsa00100	2.37498634
6	Protein export_Homo sapiens_hsa03060	2.34275614
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.07265083
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.05668610
9	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.90597401
10	Propanoate metabolism_Homo sapiens_hsa00640	1.88606158
11	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.84448904
12	Fatty acid elongation_Homo sapiens_hsa00062	1.84018565
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.80515730
14	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.68436218
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.67318477
16	Peroxisome_Homo sapiens_hsa04146	1.62181242
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.60534314
18	RNA polymerase_Homo sapiens_hsa03020	1.56586721
19	Circadian rhythm_Homo sapiens_hsa04710	1.54221170
20	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.51016333
21	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.50290350
22	Sulfur metabolism_Homo sapiens_hsa00920	1.45530953
23	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.42654803
24	Regulation of autophagy_Homo sapiens_hsa04140	1.41505023
25	Collecting duct acid secretion_Homo sapiens_hsa04966	1.35318751
26	Parkinsons disease_Homo sapiens_hsa05012	1.32858528
27	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.30758022
28	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.29922262
29	Phototransduction_Homo sapiens_hsa04744	1.25898453
30	One carbon pool by folate_Homo sapiens_hsa00670	1.25270323
31	Nitrogen metabolism_Homo sapiens_hsa00910	1.23164465
32	Selenocompound metabolism_Homo sapiens_hsa00450	1.20773516
33	GABAergic synapse_Homo sapiens_hsa04727	1.20252468
34	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.18760162
35	Fatty acid metabolism_Homo sapiens_hsa01212	1.17779129
36	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.16486372
37	Olfactory transduction_Homo sapiens_hsa04740	1.15224597
38	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.14995526
39	Salivary secretion_Homo sapiens_hsa04970	1.11709577
40	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.10254314
41	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.09409309
42	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.09330016
43	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.05658649
44	beta-Alanine metabolism_Homo sapiens_hsa00410	1.04541222
45	Arginine and proline metabolism_Homo sapiens_hsa00330	1.03382326
46	Pyrimidine metabolism_Homo sapiens_hsa00240	1.02651796
47	Sulfur relay system_Homo sapiens_hsa04122	1.02596993
48	Folate biosynthesis_Homo sapiens_hsa00790	1.02247672
49	Huntingtons disease_Homo sapiens_hsa05016	1.00046734
50	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.98105354
51	Non-homologous end-joining_Homo sapiens_hsa03450	0.95863195
52	Fanconi anemia pathway_Homo sapiens_hsa03460	0.92559350
53	Metabolic pathways_Homo sapiens_hsa01100	0.92006003
54	Carbon metabolism_Homo sapiens_hsa01200	0.90299061
55	Glycerolipid metabolism_Homo sapiens_hsa00561	0.88892071
56	Glutathione metabolism_Homo sapiens_hsa00480	0.88700881
57	Nicotine addiction_Homo sapiens_hsa05033	0.88304252
58	Vibrio cholerae infection_Homo sapiens_hsa05110	0.87660105
59	RNA degradation_Homo sapiens_hsa03018	0.87453298
60	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.83055496
61	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.80688920
62	Sphingolipid metabolism_Homo sapiens_hsa00600	0.79643038
63	Morphine addiction_Homo sapiens_hsa05032	0.79563263
64	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.77860745
65	Purine metabolism_Homo sapiens_hsa00230	0.77611565
66	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.76698087
67	Alzheimers disease_Homo sapiens_hsa05010	0.74336528
68	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.73121738
69	Insulin secretion_Homo sapiens_hsa04911	0.71729252
70	Tryptophan metabolism_Homo sapiens_hsa00380	0.71628942
71	Chemical carcinogenesis_Homo sapiens_hsa05204	0.70495502
72	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.70057046
73	Pyruvate metabolism_Homo sapiens_hsa00620	0.68703882
74	Dopaminergic synapse_Homo sapiens_hsa04728	0.67415434
75	Retinol metabolism_Homo sapiens_hsa00830	0.65164664
76	Oocyte meiosis_Homo sapiens_hsa04114	0.64859462
77	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64238265
78	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.63534028
79	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.63431376
80	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.62912052
81	Proteasome_Homo sapiens_hsa03050	0.62806108
82	Base excision repair_Homo sapiens_hsa03410	0.62240475
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60362630
84	Pentose phosphate pathway_Homo sapiens_hsa00030	0.60302604
85	Alcoholism_Homo sapiens_hsa05034	0.60009212
86	Taste transduction_Homo sapiens_hsa04742	0.58068420
87	ABC transporters_Homo sapiens_hsa02010	0.56111714
88	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.55186219
89	Homologous recombination_Homo sapiens_hsa03440	0.52929612
90	Glutamatergic synapse_Homo sapiens_hsa04724	0.52658850
91	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.52058012
92	Basal transcription factors_Homo sapiens_hsa03022	0.51839695
93	Cocaine addiction_Homo sapiens_hsa05030	0.48008708
94	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.45351263
95	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.43186225
96	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.42758182
97	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.42167236
98	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.41348695
99	Fatty acid degradation_Homo sapiens_hsa00071	0.39842558
100	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.38056911

PRH1-PRR4

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)

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