ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA deamination (GO:0045006)	5.47485320
2	cytidine deamination (GO:0009972)	4.39567988
3	cytidine metabolic process (GO:0046087)	4.39567988
4	cytidine catabolic process (GO:0006216)	4.39567988
5	protein complex biogenesis (GO:0070271)	4.29095161
6	cytochrome complex assembly (GO:0017004)	4.19734840
7	respiratory chain complex IV assembly (GO:0008535)	4.09409867
8	mitochondrial respiratory chain complex assembly (GO:0033108)	3.94348646
9	fucose catabolic process (GO:0019317)	3.94324286
10	L-fucose metabolic process (GO:0042354)	3.94324286
11	L-fucose catabolic process (GO:0042355)	3.94324286
12	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.67538553
13	preassembly of GPI anchor in ER membrane (GO:0016254)	3.66880464
14	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.62345730
15	NADH dehydrogenase complex assembly (GO:0010257)	3.62345730
16	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.62345730
17	cellular ketone body metabolic process (GO:0046950)	3.57564730
18	adaptation of signaling pathway (GO:0023058)	3.50943182
19	regulation of glucokinase activity (GO:0033131)	3.49590917
20	regulation of hexokinase activity (GO:1903299)	3.49590917
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.42811067
22	response to pheromone (GO:0019236)	3.40941662
23	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.36413846
24	behavioral response to nicotine (GO:0035095)	3.36180723
25	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.23788094
26	ketone body metabolic process (GO:1902224)	3.20492113
27	tryptophan catabolic process (GO:0006569)	3.20327789
28	indole-containing compound catabolic process (GO:0042436)	3.20327789
29	indolalkylamine catabolic process (GO:0046218)	3.20327789
30	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.19051143
31	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.19051143
32	negative regulation of telomere maintenance (GO:0032205)	3.17131491
33	positive regulation of defense response to virus by host (GO:0002230)	3.15435546
34	axoneme assembly (GO:0035082)	3.13824882
35	mannosylation (GO:0097502)	3.10068475
36	indolalkylamine metabolic process (GO:0006586)	3.06917139
37	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.06791071
38	ubiquinone biosynthetic process (GO:0006744)	3.03993150
39	chaperone-mediated protein transport (GO:0072321)	3.02829862
40	positive regulation of prostaglandin secretion (GO:0032308)	3.02336369
41	protein-cofactor linkage (GO:0018065)	3.01775436
42	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.01432938
43	GPI anchor metabolic process (GO:0006505)	3.01345608
44	ATP synthesis coupled proton transport (GO:0015986)	2.99977785
45	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.99977785
46	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.93536420
47	detection of light stimulus involved in visual perception (GO:0050908)	2.93329619
48	detection of light stimulus involved in sensory perception (GO:0050962)	2.93329619
49	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.93299918
50	positive regulation of fatty acid transport (GO:2000193)	2.91099657
51	C-terminal protein lipidation (GO:0006501)	2.89895273
52	peptidyl-histidine modification (GO:0018202)	2.89682971
53	cellular biogenic amine catabolic process (GO:0042402)	2.89369577
54	amine catabolic process (GO:0009310)	2.89369577
55	electron transport chain (GO:0022900)	2.86387759
56	multicellular organism reproduction (GO:0032504)	2.83975320
57	adenosine metabolic process (GO:0046085)	2.81853605
58	platelet dense granule organization (GO:0060155)	2.81815806
59	respiratory electron transport chain (GO:0022904)	2.80245120
60	regulation of regulatory T cell differentiation (GO:0045589)	2.73777428
61	L-methionine salvage (GO:0071267)	2.73422380
62	L-methionine biosynthetic process (GO:0071265)	2.73422380
63	amino acid salvage (GO:0043102)	2.73422380
64	kynurenine metabolic process (GO:0070189)	2.71771082
65	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.71544521
66	termination of RNA polymerase III transcription (GO:0006386)	2.71544521
67	negative regulation of execution phase of apoptosis (GO:1900118)	2.70565262
68	protein polyglutamylation (GO:0018095)	2.69478754
69	ubiquinone metabolic process (GO:0006743)	2.67099419
70	C-terminal protein amino acid modification (GO:0018410)	2.66950962
71	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.66529957
72	GPI anchor biosynthetic process (GO:0006506)	2.66431639
73	dopamine transport (GO:0015872)	2.66316516
74	positive regulation of icosanoid secretion (GO:0032305)	2.65870453
75	DNA double-strand break processing (GO:0000729)	2.64988791
76	tryptophan metabolic process (GO:0006568)	2.62924420
77	iron-sulfur cluster assembly (GO:0016226)	2.60289055
78	metallo-sulfur cluster assembly (GO:0031163)	2.60289055
79	rhodopsin mediated signaling pathway (GO:0016056)	2.57584628
80	negative regulation of mast cell activation (GO:0033004)	2.55734762
81	pseudouridine synthesis (GO:0001522)	2.54754909
82	sulfation (GO:0051923)	2.54141716
83	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.52568604
84	regulation of cilium movement (GO:0003352)	2.51311805
85	cornea development in camera-type eye (GO:0061303)	2.49494180
86	glycerophospholipid catabolic process (GO:0046475)	2.48045663
87	branched-chain amino acid catabolic process (GO:0009083)	2.47675663
88	intracellular protein transmembrane import (GO:0044743)	2.47596633
89	somite rostral/caudal axis specification (GO:0032525)	2.46511870
90	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.46469443
91	cellular response to zinc ion (GO:0071294)	2.43054293
92	hydrogen ion transmembrane transport (GO:1902600)	2.42600220
93	proton transport (GO:0015992)	2.40533570
94	regulation of memory T cell differentiation (GO:0043380)	2.39918027
95	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.39769403
96	regulation of interleukin-8 secretion (GO:2000482)	2.39562303
97	quinone biosynthetic process (GO:1901663)	2.39404361
98	hydrogen transport (GO:0006818)	2.33949335
99	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.32662733
100	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.31575767

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.81285796
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.79578354
3	VDR_22108803_ChIP-Seq_LS180_Human	3.14073691
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.11855559
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.77607436
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.71803030
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.67515495
8	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.54823781
9	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.36240180
10	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.17344810
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.06816700
12	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	2.02789424
13	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.96578053
14	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.95731585
15	GBX2_23144817_ChIP-Seq_PC3_Human	1.93607098
16	IGF1R_20145208_ChIP-Seq_DFB_Human	1.91414166
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.89515774
18	TP53_22573176_ChIP-Seq_HFKS_Human	1.77578020
19	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.77056051
20	VDR_23849224_ChIP-Seq_CD4+_Human	1.76517200
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.72259070
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.71464459
23	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.70105089
24	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.69378424
25	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.67077244
26	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.65424513
27	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.60036416
28	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.58049757
29	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.58049757
30	MYC_18940864_ChIP-ChIP_HL60_Human	1.56660742
31	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.56177279
32	AR_20517297_ChIP-Seq_VCAP_Human	1.55422303
33	EWS_26573619_Chip-Seq_HEK293_Human	1.54715592
34	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.47092613
35	P300_19829295_ChIP-Seq_ESCs_Human	1.46213119
36	CBP_20019798_ChIP-Seq_JUKART_Human	1.43710944
37	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.43710944
38	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39872198
39	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39872198
40	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.38981584
41	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.37800286
42	BCAT_22108803_ChIP-Seq_LS180_Human	1.37720691
43	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.37648062
44	NCOR_22424771_ChIP-Seq_293T_Human	1.36940240
45	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.36493602
46	NANOG_20526341_ChIP-Seq_ESCs_Human	1.36235999
47	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.33350102
48	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.31486029
49	HOXB7_26014856_ChIP-Seq_BT474_Human	1.31440219
50	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.28368862
51	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.28050054
52	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.26385882
53	MYC_19829295_ChIP-Seq_ESCs_Human	1.25496702
54	ERA_21632823_ChIP-Seq_H3396_Human	1.24771174
55	IRF1_19129219_ChIP-ChIP_H3396_Human	1.24065638
56	FOXP3_21729870_ChIP-Seq_TREG_Human	1.22976578
57	GATA3_26560356_Chip-Seq_TH2_Human	1.22298589
58	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.20809003
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.20678399
60	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.19813746
61	ELK1_19687146_ChIP-ChIP_HELA_Human	1.18752564
62	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.18542464
63	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.17734826
64	FUS_26573619_Chip-Seq_HEK293_Human	1.17178039
65	TAF2_19829295_ChIP-Seq_ESCs_Human	1.17161533
66	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.15002648
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.10895953
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.10431676
69	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.09916218
70	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.08400811
71	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.08341588
72	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.08319842
73	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.07270831
74	HTT_18923047_ChIP-ChIP_STHdh_Human	1.07245387
75	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.04437171
76	AR_25329375_ChIP-Seq_VCAP_Human	1.04417601
77	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.03868321
78	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03594012
79	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.03123197
80	TCF4_22108803_ChIP-Seq_LS180_Human	1.02215889
81	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.00737756
82	OCT4_20526341_ChIP-Seq_ESCs_Human	0.99543528
83	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.98593261
84	TAF15_26573619_Chip-Seq_HEK293_Human	0.98372553
85	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.98182482
86	CDX2_22108803_ChIP-Seq_LS180_Human	0.97653396
87	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.96821411
88	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96722284
89	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.95929350
90	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.95689294
91	STAT1_20625510_ChIP-Seq_HELA_Human	0.95385049
92	PHF8_20622853_ChIP-Seq_HELA_Human	0.95085133
93	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.94985336
94	P53_21459846_ChIP-Seq_SAOS-2_Human	0.94045202
95	TCF4_23295773_ChIP-Seq_U87_Human	0.93792386
96	STAT3_23295773_ChIP-Seq_U87_Human	0.93173114
97	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.92684064
98	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.91796272
99	RBPJ_21746931_ChIP-Seq_IB4_Human	0.90805724
100	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.90721798

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	3.87382624
2	MP0005645_abnormal_hypothalamus_physiol	3.09016906
3	MP0003195_calcinosis	2.83237590
4	MP0003646_muscle_fatigue	2.64001805
5	MP0002638_abnormal_pupillary_reflex	2.63976419
6	MP0003806_abnormal_nucleotide_metabolis	2.62808777
7	MP0005646_abnormal_pituitary_gland	2.57665265
8	MP0002876_abnormal_thyroid_physiology	2.42636215
9	MP0006072_abnormal_retinal_apoptosis	2.06976838
10	MP0005551_abnormal_eye_electrophysiolog	1.98734235
11	MP0004043_abnormal_pH_regulation	1.98330071
12	MP0001986_abnormal_taste_sensitivity	1.97906818
13	MP0008875_abnormal_xenobiotic_pharmacok	1.90185686
14	MP0002102_abnormal_ear_morphology	1.89859243
15	MP0008877_abnormal_DNA_methylation	1.88560899
16	MP0003011_delayed_dark_adaptation	1.88172410
17	MP0005379_endocrine/exocrine_gland_phen	1.86689580
18	MP0002653_abnormal_ependyma_morphology	1.83649553
19	MP0001968_abnormal_touch/_nociception	1.83563878
20	MP0002163_abnormal_gland_morphology	1.82754804
21	MP0000372_irregular_coat_pigmentation	1.80389991
22	MP0001905_abnormal_dopamine_level	1.74038674
23	MP0008872_abnormal_physiological_respon	1.64557525
24	MP0005671_abnormal_response_to	1.62417326
25	MP0005253_abnormal_eye_physiology	1.61254663
26	MP0001501_abnormal_sleep_pattern	1.60768150
27	MP0002693_abnormal_pancreas_physiology	1.60163050
28	MP0006036_abnormal_mitochondrial_physio	1.59045179
29	MP0000569_abnormal_digit_pigmentation	1.57123611
30	MP0005174_abnormal_tail_pigmentation	1.55111473
31	MP0002277_abnormal_respiratory_mucosa	1.54551830
32	MP0005084_abnormal_gallbladder_morpholo	1.49577752
33	MP0004145_abnormal_muscle_electrophysio	1.49174092
34	MP0005075_abnormal_melanosome_morpholog	1.42564390
35	MP0001984_abnormal_olfaction	1.39357110
36	MP0001485_abnormal_pinna_reflex	1.34263115
37	MP0002148_abnormal_hypersensitivity_rea	1.31077867
38	MP0004142_abnormal_muscle_tone	1.28190068
39	MP0009745_abnormal_behavioral_response	1.26901700
40	MP0001764_abnormal_homeostasis	1.23183691
41	MP0005410_abnormal_fertilization	1.22796123
42	MP0009785_altered_susceptibility_to	1.19021955
43	MP0000427_abnormal_hair_cycle	1.14839789
44	MP0009046_muscle_twitch	1.13955523
45	MP0008995_early_reproductive_senescence	1.11940469
46	MP0003718_maternal_effect	1.11652731
47	MP0005167_abnormal_blood-brain_barrier	1.11377008
48	MP0004885_abnormal_endolymph	1.09708735
49	MP0004133_heterotaxia	1.08724155
50	MP0001944_abnormal_pancreas_morphology	1.08239940
51	MP0005332_abnormal_amino_acid	1.08083518
52	MP0010386_abnormal_urinary_bladder	1.08057796
53	MP0003786_premature_aging	1.07915520
54	MP0002736_abnormal_nociception_after	1.07324396
55	MP0000631_abnormal_neuroendocrine_gland	1.05752517
56	MP0001873_stomach_inflammation	1.05494151
57	MP0005389_reproductive_system_phenotype	1.05454445
58	MP0003136_yellow_coat_color	1.04446670
59	MP0000230_abnormal_systemic_arterial	1.04413811
60	MP0003186_abnormal_redox_activity	1.00885866
61	MP0005636_abnormal_mineral_homeostasis	1.00814521
62	MP0002095_abnormal_skin_pigmentation	0.99587451
63	MP0002735_abnormal_chemical_nociception	0.98882262
64	MP0002138_abnormal_hepatobiliary_system	0.98783204
65	MP0002234_abnormal_pharynx_morphology	0.98555763
66	MP0009764_decreased_sensitivity_to	0.98333278
67	MP0001835_abnormal_antigen_presentation	0.97879470
68	MP0005083_abnormal_biliary_tract	0.97383147
69	MP0002272_abnormal_nervous_system	0.95235029
70	MP0002733_abnormal_thermal_nociception	0.94350615
71	MP0004147_increased_porphyrin_level	0.94074747
72	MP0002822_catalepsy	0.93221667
73	MP0001919_abnormal_reproductive_system	0.92969763
74	MP0005220_abnormal_exocrine_pancreas	0.92477371
75	MP0002928_abnormal_bile_duct	0.90775207
76	MP0003787_abnormal_imprinting	0.90612983
77	MP0008775_abnormal_heart_ventricle	0.89951731
78	MP0000015_abnormal_ear_pigmentation	0.89708392
79	MP0008789_abnormal_olfactory_epithelium	0.89660604
80	MP0002160_abnormal_reproductive_system	0.87538004
81	MP0002557_abnormal_social/conspecific_i	0.86196867
82	MP0003252_abnormal_bile_duct	0.85752990
83	MP0000538_abnormal_urinary_bladder	0.85586246
84	MP0001970_abnormal_pain_threshold	0.84546410
85	MP0002938_white_spotting	0.84536799
86	MP0004924_abnormal_behavior	0.81142087
87	MP0005386_behavior/neurological_phenoty	0.81142087
88	MP0001765_abnormal_ion_homeostasis	0.80568198
89	MP0001502_abnormal_circadian_rhythm	0.79796316
90	MP0005535_abnormal_body_temperature	0.79071053
91	MP0001756_abnormal_urination	0.78871549
92	MP0001790_abnormal_immune_system	0.76912758
93	MP0005387_immune_system_phenotype	0.76912758
94	MP0005266_abnormal_metabolism	0.75696754
95	MP0006292_abnormal_olfactory_placode	0.74809592
96	MP0002078_abnormal_glucose_homeostasis	0.74489386
97	MP0005448_abnormal_energy_balance	0.74283662
98	MP0003045_fibrosis	0.73950939
99	MP0000749_muscle_degeneration	0.72466006
100	MP0003866_abnormal_defecation	0.71453685

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type II lissencephaly (HP:0007260)	3.80647215
2	Abnormality of midbrain morphology (HP:0002418)	3.69251477
3	Molar tooth sign on MRI (HP:0002419)	3.69251477
4	Acute necrotizing encephalopathy (HP:0006965)	3.67722664
5	Pancreatic cysts (HP:0001737)	3.65164080
6	3-Methylglutaconic aciduria (HP:0003535)	3.65113945
7	Mitochondrial inheritance (HP:0001427)	3.61702860
8	Ketoacidosis (HP:0001993)	3.58534215
9	Congenital stationary night blindness (HP:0007642)	3.49269353
10	Progressive macrocephaly (HP:0004481)	3.41121105
11	Pancreatic fibrosis (HP:0100732)	3.33701729
12	True hermaphroditism (HP:0010459)	3.30262312
13	Increased CSF lactate (HP:0002490)	3.21112799
14	Abnormal mitochondria in muscle tissue (HP:0008316)	3.19208888
15	Acute encephalopathy (HP:0006846)	3.14336013
16	Nephronophthisis (HP:0000090)	3.14315123
17	Ketosis (HP:0001946)	3.13920559
18	Methylmalonic acidemia (HP:0002912)	3.08061265
19	Hyperalaninemia (HP:0003348)	3.07348210
20	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.07348210
21	Abnormality of alanine metabolism (HP:0010916)	3.07348210
22	Hepatocellular necrosis (HP:0001404)	3.03915413
23	Hepatic necrosis (HP:0002605)	2.93288633
24	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.89143779
25	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.89143779
26	Medial flaring of the eyebrow (HP:0010747)	2.87629551
27	Abnormality of the renal cortex (HP:0011035)	2.84336259
28	Abnormality of the renal medulla (HP:0100957)	2.74173059
29	Large for gestational age (HP:0001520)	2.73330440
30	Methylmalonic aciduria (HP:0012120)	2.71527201
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.66870406
32	Lipid accumulation in hepatocytes (HP:0006561)	2.60070534
33	Polydipsia (HP:0001959)	2.51940680
34	Abnormal drinking behavior (HP:0030082)	2.51940680
35	Hypothermia (HP:0002045)	2.49600434
36	Thyroiditis (HP:0100646)	2.43966097
37	Increased hepatocellular lipid droplets (HP:0006565)	2.39721847
38	Increased serum lactate (HP:0002151)	2.39162318
39	Cerebellar dysplasia (HP:0007033)	2.38578280
40	Lactic acidosis (HP:0003128)	2.35578288
41	Abolished electroretinogram (ERG) (HP:0000550)	2.34058670
42	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.32831214
43	Progressive microcephaly (HP:0000253)	2.31184022
44	Attenuation of retinal blood vessels (HP:0007843)	2.26973688
45	Cystic liver disease (HP:0006706)	2.26453291
46	Tubular atrophy (HP:0000092)	2.22762404
47	Cerebral edema (HP:0002181)	2.20417687
48	Renal Fanconi syndrome (HP:0001994)	2.19620162
49	Renal cortical cysts (HP:0000803)	2.18731424
50	Abnormality of vitamin B metabolism (HP:0004340)	2.16932466
51	Respiratory failure (HP:0002878)	2.13897605
52	Inability to walk (HP:0002540)	2.13396899
53	Retinal dysplasia (HP:0007973)	2.12942863
54	Clumsiness (HP:0002312)	2.12877569
55	Concave nail (HP:0001598)	2.11848446
56	Optic disc pallor (HP:0000543)	2.09692978
57	Stomatitis (HP:0010280)	2.08964979
58	Furrowed tongue (HP:0000221)	2.08887217
59	Tachypnea (HP:0002789)	2.06879959
60	Lethargy (HP:0001254)	2.04382289
61	Elevated erythrocyte sedimentation rate (HP:0003565)	2.03132121
62	Hypoproteinemia (HP:0003075)	2.01462299
63	Polyuria (HP:0000103)	1.98929616
64	Congenital primary aphakia (HP:0007707)	1.96698312
65	Gait imbalance (HP:0002141)	1.96515800
66	Severe muscular hypotonia (HP:0006829)	1.95873183
67	Calf muscle hypertrophy (HP:0008981)	1.93207891
68	Abnormal biliary tract physiology (HP:0012439)	1.92848060
69	Bile duct proliferation (HP:0001408)	1.92848060
70	Male pseudohermaphroditism (HP:0000037)	1.92827309
71	Exertional dyspnea (HP:0002875)	1.91305696
72	Congenital, generalized hypertrichosis (HP:0004540)	1.89781817
73	Severe combined immunodeficiency (HP:0004430)	1.89342812
74	Gaze-evoked nystagmus (HP:0000640)	1.89120697
75	Increased intramyocellular lipid droplets (HP:0012240)	1.87712567
76	Sclerocornea (HP:0000647)	1.86905552
77	Dicarboxylic aciduria (HP:0003215)	1.84225393
78	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.84225393
79	Hypoalbuminemia (HP:0003073)	1.83345914
80	Abnormal albumin level (HP:0012116)	1.83345914
81	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.82317418
82	Abnormality of the pons (HP:0007361)	1.81063890
83	Muscle hypertrophy of the lower extremities (HP:0008968)	1.80589768
84	Hypomagnesemia (HP:0002917)	1.79863339
85	Chronic hepatic failure (HP:0100626)	1.79784715
86	Hypoplasia of the pons (HP:0012110)	1.79389027
87	Aplastic anemia (HP:0001915)	1.78620754
88	Absent thumb (HP:0009777)	1.74659615
89	Increased muscle lipid content (HP:0009058)	1.74148273
90	Congenital hepatic fibrosis (HP:0002612)	1.73113611
91	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.72374447
92	Nephrogenic diabetes insipidus (HP:0009806)	1.71121932
93	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.70919462
94	Glycosuria (HP:0003076)	1.69442697
95	Abnormality of urine glucose concentration (HP:0011016)	1.69442697
96	Hyperventilation (HP:0002883)	1.68867035
97	Decreased circulating renin level (HP:0003351)	1.68206570
98	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.67256117
99	Disproportionate short-trunk short stature (HP:0003521)	1.65459383
100	IgG deficiency (HP:0004315)	1.63226460

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.13261590
2	BMPR1B	3.79850942
3	PINK1	3.22600294
4	ADRBK2	3.00659757
5	TLK1	2.83221260
6	TXK	2.74470997
7	ZAK	2.49875605
8	GRK1	2.47970978
9	TRIM28	2.35220633
10	NUAK1	2.24830173
11	BCKDK	2.23350632
12	MAP4K2	2.14001411
13	VRK2	2.06432655
14	MUSK	2.00142941
15	MST4	1.88083081
16	WNK4	1.83434138
17	WNK3	1.81503564
18	TAOK3	1.68709224
19	INSRR	1.60782014
20	ACVR1B	1.52900926
21	STK16	1.49280449
22	MAP2K6	1.47768091
23	OBSCN	1.47200667
24	PHKG2	1.46337060
25	PHKG1	1.46337060
26	PTK2B	1.40061665
27	DAPK2	1.37719950
28	MAPKAPK3	1.31276784
29	MAPK13	1.22503387
30	TNK2	1.20091730
31	TIE1	1.17480412
32	OXSR1	1.17122046
33	IKBKB	1.16046237
34	PNCK	1.15420145
35	ADRBK1	1.13071077
36	PAK3	1.07170758
37	KDR	1.06930934
38	MAP2K7	1.01807200
39	TEC	1.00511719
40	AKT3	0.98777521
41	MYLK	0.98739721
42	VRK1	0.96528283
43	STK39	0.91366586
44	MARK3	0.90859093
45	PRKCQ	0.88951421
46	GRK7	0.88007400
47	TGFBR1	0.85319027
48	CSNK1G3	0.83923962
49	PIM2	0.81994213
50	ITK	0.80753397
51	CSNK1G1	0.79338773
52	MAP3K4	0.78324342
53	PIK3CG	0.74685839
54	SIK3	0.72955797
55	PRKCE	0.71176448
56	CSNK1G2	0.70301322
57	ABL2	0.69094388
58	MAP3K12	0.68397105
59	CSNK1A1L	0.63094689
60	PRKCG	0.57733927
61	DYRK2	0.56811687
62	KIT	0.56735470
63	MAP4K1	0.56332170
64	RPS6KA5	0.55173715
65	PRKCI	0.51252741
66	ERBB3	0.50443056
67	BUB1	0.50201198
68	TRPM7	0.50158825
69	CHUK	0.50151881
70	PKN1	0.45759947
71	MAPKAPK5	0.44877055
72	LIMK1	0.44196705
73	DAPK1	0.44096784
74	CAMKK2	0.43323013
75	PRKAA1	0.41781050
76	PRKACA	0.41491000
77	STK38L	0.40777060
78	MKNK2	0.40456102
79	CCNB1	0.40423779
80	PIK3CA	0.39590077
81	CAMK1	0.37672734
82	GRK5	0.35609521
83	PRKAA2	0.34926683
84	EIF2AK3	0.33853713
85	BRSK2	0.33493422
86	LCK	0.33482403
87	PRKCA	0.33069406
88	SYK	0.32833899
89	CSNK1A1	0.31633187
90	TESK2	0.31254414
91	CAMK2D	0.31167819
92	ROCK1	0.30814418
93	BTK	0.29502183
94	CAMK2A	0.28210813
95	LYN	0.27896991
96	MAPK15	0.26616883
97	ATR	0.26215276
98	ABL1	0.25272782
99	PRKG1	0.24916505
100	PDK2	0.24154453

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.31668283
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.07441921
3	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.83684042
4	Protein export_Homo sapiens_hsa03060	2.65428887
5	Parkinsons disease_Homo sapiens_hsa05012	2.50373505
6	Phototransduction_Homo sapiens_hsa04744	2.43838441
7	RNA polymerase_Homo sapiens_hsa03020	2.37194201
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.26861895
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.14405456
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.03562274
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.00832567
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.98721622
13	Caffeine metabolism_Homo sapiens_hsa00232	1.94899939
14	Butanoate metabolism_Homo sapiens_hsa00650	1.93516502
15	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.86712252
16	Proteasome_Homo sapiens_hsa03050	1.80158494
17	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.72884785
18	Tryptophan metabolism_Homo sapiens_hsa00380	1.71592796
19	Alzheimers disease_Homo sapiens_hsa05010	1.65080222
20	Sulfur metabolism_Homo sapiens_hsa00920	1.61146029
21	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.60920333
22	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.57929205
23	Peroxisome_Homo sapiens_hsa04146	1.52874259
24	Huntingtons disease_Homo sapiens_hsa05016	1.49666327
25	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.47986644
26	Primary immunodeficiency_Homo sapiens_hsa05340	1.47425198
27	Fanconi anemia pathway_Homo sapiens_hsa03460	1.47049515
28	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.41296730
29	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.40502765
30	Regulation of autophagy_Homo sapiens_hsa04140	1.39501421
31	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.38774079
32	Propanoate metabolism_Homo sapiens_hsa00640	1.38088264
33	Homologous recombination_Homo sapiens_hsa03440	1.35306379
34	Selenocompound metabolism_Homo sapiens_hsa00450	1.33104451
35	Ribosome_Homo sapiens_hsa03010	1.30962724
36	Type I diabetes mellitus_Homo sapiens_hsa04940	1.30949476
37	Cardiac muscle contraction_Homo sapiens_hsa04260	1.23246729
38	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.19457732
39	Ether lipid metabolism_Homo sapiens_hsa00565	1.15190393
40	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.12363639
41	Collecting duct acid secretion_Homo sapiens_hsa04966	1.11089898
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.10260829
43	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.10126291
44	Pyrimidine metabolism_Homo sapiens_hsa00240	1.09592680
45	RNA degradation_Homo sapiens_hsa03018	1.04019574
46	One carbon pool by folate_Homo sapiens_hsa00670	1.03876465
47	Basal transcription factors_Homo sapiens_hsa03022	1.03024973
48	Olfactory transduction_Homo sapiens_hsa04740	1.01429381
49	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.99503855
50	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.98327487
51	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.97844761
52	Purine metabolism_Homo sapiens_hsa00230	0.96631082
53	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.95894784
54	Mineral absorption_Homo sapiens_hsa04978	0.95859828
55	Chemical carcinogenesis_Homo sapiens_hsa05204	0.94728042
56	Retinol metabolism_Homo sapiens_hsa00830	0.94227586
57	Insulin secretion_Homo sapiens_hsa04911	0.91867057
58	Graft-versus-host disease_Homo sapiens_hsa05332	0.89336225
59	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.89176896
60	Rheumatoid arthritis_Homo sapiens_hsa05323	0.82533638
61	Nicotine addiction_Homo sapiens_hsa05033	0.81921471
62	Metabolic pathways_Homo sapiens_hsa01100	0.80444439
63	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.76456580
64	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.75437999
65	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.73571453
66	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.72352041
67	ABC transporters_Homo sapiens_hsa02010	0.70925099
68	Asthma_Homo sapiens_hsa05310	0.70387485
69	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.70039092
70	Allograft rejection_Homo sapiens_hsa05330	0.69925600
71	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.69559448
72	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.68076334
73	Folate biosynthesis_Homo sapiens_hsa00790	0.66916155
74	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.66583035
75	Circadian rhythm_Homo sapiens_hsa04710	0.64462389
76	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64218949
77	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.63388724
78	Taste transduction_Homo sapiens_hsa04742	0.63248684
79	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.58043924
80	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.50608339
81	beta-Alanine metabolism_Homo sapiens_hsa00410	0.49496849
82	Antigen processing and presentation_Homo sapiens_hsa04612	0.48340605
83	Fatty acid elongation_Homo sapiens_hsa00062	0.47943609
84	Serotonergic synapse_Homo sapiens_hsa04726	0.47674212
85	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.46274251
86	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.45605532
87	Sulfur relay system_Homo sapiens_hsa04122	0.42901219
88	Morphine addiction_Homo sapiens_hsa05032	0.41395627
89	Calcium signaling pathway_Homo sapiens_hsa04020	0.40334807
90	Glutathione metabolism_Homo sapiens_hsa00480	0.39090910
91	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.38633206
92	Nucleotide excision repair_Homo sapiens_hsa03420	0.38144368
93	Salivary secretion_Homo sapiens_hsa04970	0.34883524
94	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.34368785
95	GABAergic synapse_Homo sapiens_hsa04727	0.29984170
96	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.28364077
97	Tyrosine metabolism_Homo sapiens_hsa00350	0.27699853
98	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.27565878
99	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.26395010
100	Renin secretion_Homo sapiens_hsa04924	0.25274213

PRR34

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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