ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	9.24711939
2	sperm motility (GO:0030317)	6.93389356
3	acrosome reaction (GO:0007340)	6.36957974
4	protein polyglutamylation (GO:0018095)	5.46559598
5	fusion of sperm to egg plasma membrane (GO:0007342)	5.17602509
6	spermatid development (GO:0007286)	5.05504940
7	establishment of protein localization to Golgi (GO:0072600)	4.96927132
8	piRNA metabolic process (GO:0034587)	4.78923047
9	protein targeting to Golgi (GO:0000042)	4.74334096
10	cilium or flagellum-dependent cell motility (GO:0001539)	4.71031048
11	cellular ketone body metabolic process (GO:0046950)	4.61706367
12	multicellular organism reproduction (GO:0032504)	4.60903849
13	regulation of cilium movement (GO:0003352)	4.56790874
14	DNA methylation involved in gamete generation (GO:0043046)	4.52720902
15	single strand break repair (GO:0000012)	4.34692275
16	sperm-egg recognition (GO:0035036)	4.33374620
17	rRNA methylation (GO:0031167)	4.29431297
18	protein localization to Golgi apparatus (GO:0034067)	4.26315109
19	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.26075553
20	microtubule depolymerization (GO:0007019)	4.25010548
21	rRNA modification (GO:0000154)	4.15581909
22	detection of light stimulus involved in visual perception (GO:0050908)	4.15122651
23	detection of light stimulus involved in sensory perception (GO:0050962)	4.15122651
24	male meiosis I (GO:0007141)	4.10965295
25	ketone body metabolic process (GO:1902224)	4.08445325
26	axoneme assembly (GO:0035082)	4.01869163
27	axonemal dynein complex assembly (GO:0070286)	3.89417266
28	centriole replication (GO:0007099)	3.87407235
29	plasma membrane fusion (GO:0045026)	3.86067960
30	epithelial cilium movement (GO:0003351)	3.82927139
31	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.81153823
32	reproduction (GO:0000003)	3.70077765
33	spermatogenesis (GO:0007283)	3.65538160
34	male gamete generation (GO:0048232)	3.65412482
35	cell-cell recognition (GO:0009988)	3.62710167
36	calcium ion-dependent exocytosis (GO:0017156)	3.60561161
37	microtubule polymerization or depolymerization (GO:0031109)	3.58110686
38	behavioral response to nicotine (GO:0035095)	3.56841576
39	phosphatidylethanolamine metabolic process (GO:0046337)	3.56796069
40	spermatid nucleus differentiation (GO:0007289)	3.54574277
41	sperm capacitation (GO:0048240)	3.52960641
42	seminiferous tubule development (GO:0072520)	3.45931026
43	cilium movement (GO:0003341)	3.45434390
44	coenzyme catabolic process (GO:0009109)	3.45373098
45	male meiosis (GO:0007140)	3.42894533
46	gamete generation (GO:0007276)	3.38770111
47	regulation of microtubule-based movement (GO:0060632)	3.38149142
48	binding of sperm to zona pellucida (GO:0007339)	3.32700258
49	centriole assembly (GO:0098534)	3.32582049
50	tachykinin receptor signaling pathway (GO:0007217)	3.29636400
51	DNA packaging (GO:0006323)	3.26256240
52	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.24573652
53	organic cation transport (GO:0015695)	3.22695679
54	RNA destabilization (GO:0050779)	3.15282465
55	regulation of meiosis I (GO:0060631)	3.12982641
56	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	3.12829562
57	purine deoxyribonucleotide catabolic process (GO:0009155)	3.10158541
58	motile cilium assembly (GO:0044458)	3.06259581
59	photoreceptor cell maintenance (GO:0045494)	3.05422792
60	microtubule severing (GO:0051013)	3.04256129
61	cilium organization (GO:0044782)	3.00459409
62	germ cell development (GO:0007281)	2.98205710
63	nonmotile primary cilium assembly (GO:0035058)	2.97694820
64	cilium assembly (GO:0042384)	2.97257178
65	single fertilization (GO:0007338)	2.96301216
66	meiosis I (GO:0007127)	2.95689954
67	protein K11-linked deubiquitination (GO:0035871)	2.94408606
68	synapsis (GO:0007129)	2.92237541
69	positive regulation of Rab GTPase activity (GO:0032851)	2.89488377
70	regulation of Rab GTPase activity (GO:0032313)	2.89488377
71	chromosome condensation (GO:0030261)	2.87736443
72	fertilization (GO:0009566)	2.87297330
73	L-fucose catabolic process (GO:0042355)	2.83743953
74	fucose catabolic process (GO:0019317)	2.83743953
75	L-fucose metabolic process (GO:0042354)	2.83743953
76	microtubule nucleation (GO:0007020)	2.80740968
77	DNA double-strand break processing (GO:0000729)	2.80342581
78	mannosylation (GO:0097502)	2.78983130
79	positive regulation of guanylate cyclase activity (GO:0031284)	2.77939960
80	reciprocal DNA recombination (GO:0035825)	2.76716450
81	reciprocal meiotic recombination (GO:0007131)	2.76716450
82	indole-containing compound catabolic process (GO:0042436)	2.76503075
83	indolalkylamine catabolic process (GO:0046218)	2.76503075
84	tryptophan catabolic process (GO:0006569)	2.76503075
85	left/right axis specification (GO:0070986)	2.72718582
86	negative regulation of Rho protein signal transduction (GO:0035024)	2.68497466
87	indolalkylamine metabolic process (GO:0006586)	2.65041883
88	somite rostral/caudal axis specification (GO:0032525)	2.64088767
89	gene silencing by RNA (GO:0031047)	2.63947242
90	DNA deamination (GO:0045006)	2.62235132
91	multicellular organismal reproductive process (GO:0048609)	2.61374547
92	urinary tract smooth muscle contraction (GO:0014848)	2.60813302
93	base-excision repair, AP site formation (GO:0006285)	2.59818938
94	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.59702894
95	membrane depolarization during action potential (GO:0086010)	2.57549228
96	cellular process involved in reproduction in multicellular organism (GO:0022412)	2.57512950
97	recombinational repair (GO:0000725)	2.56262453
98	double-strand break repair via homologous recombination (GO:0000724)	2.56132946
99	regulation of centriole replication (GO:0046599)	2.55177074
100	nephron tubule morphogenesis (GO:0072078)	2.54419311

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.95005348
2	IGF1R_20145208_ChIP-Seq_DFB_Human	2.88748539
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.78402503
4	VDR_22108803_ChIP-Seq_LS180_Human	2.76653105
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.73052036
6	FUS_26573619_Chip-Seq_HEK293_Human	2.64721613
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.61224390
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.50283016
9	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.33725498
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22806699
11	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.13967618
12	CBP_20019798_ChIP-Seq_JUKART_Human	2.13967618
13	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.13047961
14	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.09728448
15	ER_23166858_ChIP-Seq_MCF-7_Human	2.09525567
16	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.09380473
17	P300_19829295_ChIP-Seq_ESCs_Human	2.03569052
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.98676291
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.97891116
20	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.82397426
21	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.81228527
22	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.80349054
23	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.80349054
24	EWS_26573619_Chip-Seq_HEK293_Human	1.72684779
25	AR_25329375_ChIP-Seq_VCAP_Human	1.70683058
26	IRF1_19129219_ChIP-ChIP_H3396_Human	1.67610864
27	STAT3_23295773_ChIP-Seq_U87_Human	1.56447743
28	SMAD4_21799915_ChIP-Seq_A2780_Human	1.54902183
29	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.52069944
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.50975374
31	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.46225936
32	SOX2_19829295_ChIP-Seq_ESCs_Human	1.45950299
33	NANOG_19829295_ChIP-Seq_ESCs_Human	1.45950299
34	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.44912358
35	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.44285397
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.44022552
37	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.43875278
38	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.42503327
39	TCF4_23295773_ChIP-Seq_U87_Human	1.42398178
40	RUNX2_22187159_ChIP-Seq_PCA_Human	1.41828887
41	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.41534574
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.41534574
43	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.39833993
44	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.38504029
45	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.38490043
46	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.34330921
47	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.33689742
48	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.33450898
49	MYC_19829295_ChIP-Seq_ESCs_Human	1.33357702
50	NANOG_20526341_ChIP-Seq_ESCs_Human	1.32593527
51	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.32391105
52	DROSHA_22980978_ChIP-Seq_HELA_Human	1.31752288
53	BCAT_22108803_ChIP-Seq_LS180_Human	1.31375728
54	ERA_21632823_ChIP-Seq_H3396_Human	1.31358845
55	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.30894760
56	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.30413300
57	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.28792029
58	TCF4_22108803_ChIP-Seq_LS180_Human	1.28287685
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.27215260
60	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.23672889
61	TAF2_19829295_ChIP-Seq_ESCs_Human	1.22950339
62	NCOR_22424771_ChIP-Seq_293T_Human	1.21555417
63	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.21430191
64	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.21235663
65	REST_21632747_ChIP-Seq_MESCs_Mouse	1.20898918
66	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.18514569
67	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.16975713
68	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.16971871
69	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.16854193
70	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.15847540
71	HOXB7_26014856_ChIP-Seq_BT474_Human	1.15268831
72	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.14832726
73	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.13359616
74	RAC3_21632823_ChIP-Seq_H3396_Human	1.13344900
75	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.12926344
76	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.12548112
77	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.11093198
78	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.08482404
79	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.08150234
80	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.07259966
81	RNF2_27304074_Chip-Seq_NSC_Mouse	1.06038809
82	AR_20517297_ChIP-Seq_VCAP_Human	1.05339204
83	SMRT_27268052_Chip-Seq_Bcells_Human	1.05252197
84	OCT4_20526341_ChIP-Seq_ESCs_Human	1.05049319
85	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.03652775
86	ETV1_20927104_ChIP-Seq_GIST48_Human	1.03632928
87	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.03571292
88	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02076003
89	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.00884573
90	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.00480544
91	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00003868
92	PHF8_20622853_ChIP-Seq_HELA_Human	0.99837136
93	AR_21572438_ChIP-Seq_LNCaP_Human	0.99605702
94	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.96536125
95	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.95745814
96	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95705863
97	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.95665692
98	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95208763
99	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.95021513
100	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.94759183

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	5.58987196
2	MP0008877_abnormal_DNA_methylation	3.35298229
3	MP0003698_abnormal_male_reproductive	2.68426297
4	MP0003646_muscle_fatigue	2.54607860
5	MP0001929_abnormal_gametogenesis	2.46222430
6	MP0005551_abnormal_eye_electrophysiolog	2.44347599
7	MP0006292_abnormal_olfactory_placode	2.36937059
8	MP0002132_abnormal_respiratory_system	2.31905245
9	MP0001968_abnormal_touch/_nociception	2.14259639
10	MP0005084_abnormal_gallbladder_morpholo	2.06782350
11	MP0005377_hearing/vestibular/ear_phenot	2.03207287
12	MP0003878_abnormal_ear_physiology	2.03207287
13	MP0002653_abnormal_ependyma_morphology	2.00690776
14	MP0002876_abnormal_thyroid_physiology	1.99885887
15	MP0003718_maternal_effect	1.83220174
16	MP0008872_abnormal_physiological_respon	1.82250441
17	MP0005670_abnormal_white_adipose	1.78675024
18	MP0008995_early_reproductive_senescence	1.76224601
19	MP0002736_abnormal_nociception_after	1.74214798
20	MP0000372_irregular_coat_pigmentation	1.74123639
21	MP0001986_abnormal_taste_sensitivity	1.66447900
22	MP0005646_abnormal_pituitary_gland	1.61798401
23	MP0001501_abnormal_sleep_pattern	1.58996475
24	MP0005253_abnormal_eye_physiology	1.58591315
25	MP0002160_abnormal_reproductive_system	1.54113030
26	MP0005083_abnormal_biliary_tract	1.53230671
27	MP0003011_delayed_dark_adaptation	1.51916626
28	MP0001486_abnormal_startle_reflex	1.50887627
29	MP0002234_abnormal_pharynx_morphology	1.49693764
30	MP0002210_abnormal_sex_determination	1.49231688
31	MP0000569_abnormal_digit_pigmentation	1.46908394
32	MP0004147_increased_porphyrin_level	1.45493524
33	MP0005075_abnormal_melanosome_morpholog	1.43879777
34	MP0003787_abnormal_imprinting	1.43825324
35	MP0002254_reproductive_system_inflammat	1.40919644
36	MP0005174_abnormal_tail_pigmentation	1.38816981
37	MP0004484_altered_response_of	1.35728264
38	MP0001984_abnormal_olfaction	1.35157011
39	MP0002837_dystrophic_cardiac_calcinosis	1.35061624
40	MP0002735_abnormal_chemical_nociception	1.32813586
41	MP0001145_abnormal_male_reproductive	1.32345817
42	MP0000653_abnormal_sex_gland	1.31808662
43	MP0002161_abnormal_fertility/fecundity	1.30886291
44	MP0000427_abnormal_hair_cycle	1.28317246
45	MP0005167_abnormal_blood-brain_barrier	1.26454051
46	MP0003880_abnormal_central_pattern	1.26174304
47	MP0009745_abnormal_behavioral_response	1.24852229
48	MP0005645_abnormal_hypothalamus_physiol	1.20730237
49	MP0009046_muscle_twitch	1.19403665
50	MP0002272_abnormal_nervous_system	1.18214287
51	MP0003136_yellow_coat_color	1.16508657
52	MP0005389_reproductive_system_phenotype	1.15681783
53	MP0005379_endocrine/exocrine_gland_phen	1.13371705
54	MP0008058_abnormal_DNA_repair	1.13354065
55	MP0001529_abnormal_vocalization	1.13274049
56	MP0004043_abnormal_pH_regulation	1.12045623
57	MP0002572_abnormal_emotion/affect_behav	1.10368619
58	MP0001485_abnormal_pinna_reflex	1.09793913
59	MP0002102_abnormal_ear_morphology	1.09119285
60	MP0002638_abnormal_pupillary_reflex	1.08940674
61	MP0003195_calcinosis	1.08928780
62	MP0001764_abnormal_homeostasis	1.08542536
63	MP0006072_abnormal_retinal_apoptosis	1.07477845
64	MP0004142_abnormal_muscle_tone	1.04748493
65	MP0002138_abnormal_hepatobiliary_system	1.03896855
66	MP0006276_abnormal_autonomic_nervous	1.02504128
67	MP0000631_abnormal_neuroendocrine_gland	1.00827309
68	MP0002229_neurodegeneration	0.99850872
69	MP0009697_abnormal_copulation	0.99713325
70	MP0002067_abnormal_sensory_capabilities	0.99306519
71	MP0003786_premature_aging	0.97576113
72	MP0000383_abnormal_hair_follicle	0.94644543
73	MP0001765_abnormal_ion_homeostasis	0.92467131
74	MP0005310_abnormal_salivary_gland	0.90433079
75	MP0000678_abnormal_parathyroid_gland	0.90198838
76	MP0003121_genomic_imprinting	0.90141897
77	MP0001970_abnormal_pain_threshold	0.89037956
78	MP0004924_abnormal_behavior	0.88761466
79	MP0005386_behavior/neurological_phenoty	0.88761466
80	MP0002733_abnormal_thermal_nociception	0.88024809
81	MP0004742_abnormal_vestibular_system	0.87767721
82	MP0002557_abnormal_social/conspecific_i	0.86519536
83	MP0005636_abnormal_mineral_homeostasis	0.84980200
84	MP0001348_abnormal_lacrimal_gland	0.84257770
85	MP0008789_abnormal_olfactory_epithelium	0.84065200
86	MP0003635_abnormal_synaptic_transmissio	0.82891365
87	MP0002938_white_spotting	0.80546656
88	MP0001919_abnormal_reproductive_system	0.80381035
89	MP0002095_abnormal_skin_pigmentation	0.79630263
90	MP0001963_abnormal_hearing_physiology	0.79208915
91	MP0001324_abnormal_eye_pigmentation	0.77937916
92	MP0000230_abnormal_systemic_arterial	0.77884220
93	MP0004133_heterotaxia	0.77062950
94	MP0002928_abnormal_bile_duct	0.76292856
95	MP0005423_abnormal_somatic_nervous	0.73009353
96	MP0005395_other_phenotype	0.72727022
97	MP0000955_abnormal_spinal_cord	0.71390703
98	MP0005195_abnormal_posterior_eye	0.70193847
99	MP0002063_abnormal_learning/memory/cond	0.70067400
100	MP0000778_abnormal_nervous_system	0.69287281

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	5.04735490
2	Attenuation of retinal blood vessels (HP:0007843)	4.49890131
3	Nephronophthisis (HP:0000090)	3.99547299
4	Abnormal rod and cone electroretinograms (HP:0008323)	3.97377396
5	Congenital stationary night blindness (HP:0007642)	3.93538373
6	Pancreatic cysts (HP:0001737)	3.78261513
7	Pancreatic fibrosis (HP:0100732)	3.68711125
8	True hermaphroditism (HP:0010459)	3.48078032
9	Abnormality of the renal medulla (HP:0100957)	3.39975968
10	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.38915968
11	Absent/shortened dynein arms (HP:0200106)	3.38915968
12	Chronic hepatic failure (HP:0100626)	3.33800361
13	Abnormality of macular pigmentation (HP:0008002)	3.32022933
14	Bony spicule pigmentary retinopathy (HP:0007737)	3.30952266
15	Tubulointerstitial nephritis (HP:0001970)	3.26387089
16	Abnormality of midbrain morphology (HP:0002418)	3.11915058
17	Molar tooth sign on MRI (HP:0002419)	3.11915058
18	Medial flaring of the eyebrow (HP:0010747)	2.97608836
19	Cerebellar dysplasia (HP:0007033)	2.88356405
20	Abnormal ciliary motility (HP:0012262)	2.85034698
21	Abnormality of B cell number (HP:0010975)	2.76870461
22	Type II lissencephaly (HP:0007260)	2.70336576
23	Abnormal drinking behavior (HP:0030082)	2.70124297
24	Polydipsia (HP:0001959)	2.70124297
25	Progressive cerebellar ataxia (HP:0002073)	2.65462934
26	Hypoplasia of the thymus (HP:0000778)	2.63027988
27	Thyroiditis (HP:0100646)	2.63018156
28	Abnormality of the renal cortex (HP:0011035)	2.62804775
29	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.60328526
30	Cystic liver disease (HP:0006706)	2.56202062
31	Abnormal respiratory motile cilium physiology (HP:0012261)	2.56182372
32	Gait imbalance (HP:0002141)	2.55810309
33	Decreased central vision (HP:0007663)	2.48850036
34	Nephrogenic diabetes insipidus (HP:0009806)	2.48335734
35	Congenital primary aphakia (HP:0007707)	2.47710901
36	Abnormal respiratory epithelium morphology (HP:0012253)	2.43627695
37	Abnormal respiratory motile cilium morphology (HP:0005938)	2.43627695
38	Severe combined immunodeficiency (HP:0004430)	2.42358317
39	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.41531731
40	B lymphocytopenia (HP:0010976)	2.35844111
41	Polyuria (HP:0000103)	2.35435512
42	Pendular nystagmus (HP:0012043)	2.26740260
43	Tubular atrophy (HP:0000092)	2.23872309
44	Gaze-evoked nystagmus (HP:0000640)	2.23068272
45	Congenital hepatic fibrosis (HP:0002612)	2.20686122
46	Stomach cancer (HP:0012126)	2.19890192
47	Postaxial foot polydactyly (HP:0001830)	2.18142131
48	Abolished electroretinogram (ERG) (HP:0000550)	2.18053775
49	Genetic anticipation (HP:0003743)	2.17458839
50	Sclerocornea (HP:0000647)	2.10161361
51	Abnormal urine output (HP:0012590)	2.07942652
52	Occipital encephalocele (HP:0002085)	2.07321936
53	Genital tract atresia (HP:0001827)	2.04985970
54	Stage 5 chronic kidney disease (HP:0003774)	2.04486893
55	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.03457043
56	Abnormality of renal excretion (HP:0011036)	1.98099505
57	Tubulointerstitial abnormality (HP:0001969)	1.96893404
58	Macular degeneration (HP:0000608)	1.96455370
59	Tetany (HP:0001281)	1.96156790
60	Vaginal atresia (HP:0000148)	1.96000411
61	Anencephaly (HP:0002323)	1.95750839
62	Hypoproteinemia (HP:0003075)	1.95689574
63	Type I transferrin isoform profile (HP:0003642)	1.92994652
64	Optic nerve hypoplasia (HP:0000609)	1.92196419
65	Lissencephaly (HP:0001339)	1.91153887
66	Abnormality of urine glucose concentration (HP:0011016)	1.91101947
67	Glycosuria (HP:0003076)	1.91101947
68	Scotoma (HP:0000575)	1.90956549
69	Ketosis (HP:0001946)	1.86988580
70	Progressive inability to walk (HP:0002505)	1.86109995
71	Albinism (HP:0001022)	1.84629274
72	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.83446508
73	Amelogenesis imperfecta (HP:0000705)	1.83049674
74	Broad-based gait (HP:0002136)	1.81860885
75	Poor coordination (HP:0002370)	1.81180765
76	Inability to walk (HP:0002540)	1.80285061
77	Abnormality of DNA repair (HP:0003254)	1.79563090
78	Hyperventilation (HP:0002883)	1.79556765
79	Elevated erythrocyte sedimentation rate (HP:0003565)	1.79194263
80	Abnormal protein glycosylation (HP:0012346)	1.78815897
81	Abnormal glycosylation (HP:0012345)	1.78815897
82	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.78815897
83	Abnormal protein N-linked glycosylation (HP:0012347)	1.78815897
84	Hypoplastic iliac wings (HP:0002866)	1.77409427
85	Retinitis pigmentosa (HP:0000510)	1.76160609
86	Photophobia (HP:0000613)	1.76007026
87	Constricted visual fields (HP:0001133)	1.75393638
88	Hypoplasia of the fovea (HP:0007750)	1.74863732
89	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.74863732
90	Sloping forehead (HP:0000340)	1.72852358
91	Cone-rod dystrophy (HP:0000548)	1.72631472
92	Renal cortical cysts (HP:0000803)	1.72487492
93	Astigmatism (HP:0000483)	1.72239874
94	Febrile seizures (HP:0002373)	1.71135433
95	Abnormal biliary tract physiology (HP:0012439)	1.70635089
96	Bile duct proliferation (HP:0001408)	1.70635089
97	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.70492265
98	Keratoconus (HP:0000563)	1.69300290
99	Increased corneal curvature (HP:0100692)	1.69300290
100	Bulbous nose (HP:0000414)	1.69213973

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	5.98650027
2	FRK	3.79398736
3	INSRR	3.46007339
4	PLK4	3.36034046
5	TAOK3	3.00458154
6	WNK4	2.89292222
7	ZAK	2.38300271
8	PNCK	2.20415095
9	STK39	2.12882310
10	NUAK1	2.03195126
11	BCKDK	2.02395319
12	GRK1	2.00725242
13	PINK1	1.99395113
14	TNIK	1.95016146
15	OXSR1	1.91093111
16	ADRBK2	1.90693372
17	CASK	1.87674877
18	BMPR1B	1.87233653
19	MAP3K4	1.71883393
20	PLK2	1.70799860
21	STK38L	1.67729732
22	MAPK13	1.63987286
23	WNK3	1.47750627
24	PRKD3	1.38506186
25	BRD4	1.33931026
26	ACVR1B	1.32266005
27	BRSK2	1.31876547
28	STK38	1.28455437
29	MAPK15	1.23692000
30	AKT3	1.20315179
31	TXK	1.17235298
32	DAPK2	1.10738728
33	PTK2B	1.03858554
34	MAP2K7	0.98396030
35	NLK	0.96285223
36	CDK19	0.95472860
37	PIK3CG	0.90221929
38	TNK2	0.89023427
39	MUSK	0.83820655
40	VRK1	0.82053843
41	TRIM28	0.81060328
42	TLK1	0.80623588
43	PBK	0.79013394
44	PRKCE	0.77835140
45	TEC	0.76963451
46	NTRK3	0.74533872
47	DYRK2	0.69431530
48	FLT3	0.67242227
49	LATS1	0.58511868
50	PRKCG	0.56204253
51	CDK3	0.55849170
52	PRKCQ	0.54783981
53	ADRBK1	0.52366911
54	SGK2	0.51740670
55	MAP2K6	0.50561300
56	MAP2K2	0.50144069
57	TGFBR1	0.49441116
58	CAMKK2	0.48645666
59	PAK3	0.48321267
60	MAP3K6	0.47622626
61	RPS6KA4	0.46714947
62	KIT	0.46148838
63	PDK1	0.45022960
64	CAMK1	0.43071852
65	SGK494	0.43040281
66	SGK223	0.43040281
67	CAMK1G	0.42020576
68	WNK1	0.41302206
69	MARK1	0.38134101
70	PDK2	0.37629068
71	DYRK1A	0.37549153
72	PRKG1	0.37277716
73	RPS6KA5	0.36487182
74	EPHA4	0.35989085
75	MAP2K4	0.34367493
76	CSNK1G2	0.34162838
77	MKNK2	0.32618581
78	ERBB3	0.31470907
79	PKN1	0.30650784
80	RPS6KA6	0.30606405
81	SYK	0.30294334
82	PRKCZ	0.30279748
83	CSNK1G3	0.29750896
84	PRKCH	0.29742588
85	CSNK1G1	0.29680604
86	STK11	0.28660818
87	DYRK3	0.28113356
88	PLK1	0.25701036
89	PRKACA	0.24898624
90	WEE1	0.24434609
91	MARK3	0.24045149
92	PRKD2	0.23942724
93	CAMK2A	0.23177910
94	BCR	0.23138482
95	IKBKB	0.22811594
96	ITK	0.22801770
97	MET	0.21710456
98	SGK1	0.21168714
99	MINK1	0.20660691
100	PRKCI	0.20633555

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.07267557
2	Butanoate metabolism_Homo sapiens_hsa00650	2.90647314
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.78782367
4	Phototransduction_Homo sapiens_hsa04744	2.66802437
5	Olfactory transduction_Homo sapiens_hsa04740	2.41725113
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.37017368
7	Fanconi anemia pathway_Homo sapiens_hsa03460	2.30927839
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.23972307
9	Taste transduction_Homo sapiens_hsa04742	2.20077060
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.17280673
11	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.17232552
12	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.11883967
13	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.02364749
14	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.93936293
15	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.93704092
16	Propanoate metabolism_Homo sapiens_hsa00640	1.93010795
17	Homologous recombination_Homo sapiens_hsa03440	1.88061654
18	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.86333986
19	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.80533844
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.63984502
21	Nitrogen metabolism_Homo sapiens_hsa00910	1.61992683
22	Nicotine addiction_Homo sapiens_hsa05033	1.60364903
23	Ether lipid metabolism_Homo sapiens_hsa00565	1.59171299
24	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.54696368
25	Peroxisome_Homo sapiens_hsa04146	1.50804351
26	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.50030084
27	ABC transporters_Homo sapiens_hsa02010	1.49994801
28	RNA degradation_Homo sapiens_hsa03018	1.47473871
29	Primary immunodeficiency_Homo sapiens_hsa05340	1.46216482
30	Basal transcription factors_Homo sapiens_hsa03022	1.35444709
31	Regulation of autophagy_Homo sapiens_hsa04140	1.31520276
32	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.28621712
33	Non-homologous end-joining_Homo sapiens_hsa03450	1.28166026
34	Salivary secretion_Homo sapiens_hsa04970	1.22715211
35	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.21705945
36	Retinol metabolism_Homo sapiens_hsa00830	1.20036023
37	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.16833584
38	Morphine addiction_Homo sapiens_hsa05032	1.16195264
39	Circadian entrainment_Homo sapiens_hsa04713	1.14941682
40	Tryptophan metabolism_Homo sapiens_hsa00380	1.11514397
41	Insulin secretion_Homo sapiens_hsa04911	1.11404311
42	Calcium signaling pathway_Homo sapiens_hsa04020	1.10791786
43	Glutamatergic synapse_Homo sapiens_hsa04724	1.06666124
44	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.01224784
45	Caffeine metabolism_Homo sapiens_hsa00232	0.98283085
46	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.97748478
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.90068774
48	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87411661
49	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.85848200
50	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.84469627
51	Purine metabolism_Homo sapiens_hsa00230	0.83326037
52	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.83173561
53	Serotonergic synapse_Homo sapiens_hsa04726	0.80633836
54	RNA polymerase_Homo sapiens_hsa03020	0.78284883
55	RNA transport_Homo sapiens_hsa03013	0.77724728
56	Type II diabetes mellitus_Homo sapiens_hsa04930	0.77140607
57	Base excision repair_Homo sapiens_hsa03410	0.76775012
58	Fatty acid degradation_Homo sapiens_hsa00071	0.73753079
59	GABAergic synapse_Homo sapiens_hsa04727	0.71997533
60	beta-Alanine metabolism_Homo sapiens_hsa00410	0.68511074
61	Fatty acid metabolism_Homo sapiens_hsa01212	0.66264658
62	Sulfur relay system_Homo sapiens_hsa04122	0.65518497
63	Fat digestion and absorption_Homo sapiens_hsa04975	0.65181578
64	cAMP signaling pathway_Homo sapiens_hsa04024	0.63588020
65	Metabolic pathways_Homo sapiens_hsa01100	0.62358111
66	Glycerolipid metabolism_Homo sapiens_hsa00561	0.61633872
67	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.60266345
68	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.58036477
69	Long-term depression_Homo sapiens_hsa04730	0.57727643
70	Type I diabetes mellitus_Homo sapiens_hsa04940	0.57422709
71	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.54360864
72	Collecting duct acid secretion_Homo sapiens_hsa04966	0.53776935
73	Cholinergic synapse_Homo sapiens_hsa04725	0.51345648
74	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.50663241
75	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50467767
76	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.50377036
77	Sphingolipid metabolism_Homo sapiens_hsa00600	0.48670178
78	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.48017456
79	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.47592400
80	Pancreatic secretion_Homo sapiens_hsa04972	0.47342946
81	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.46829208
82	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.45782674
83	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.45545224
84	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.45150260
85	Circadian rhythm_Homo sapiens_hsa04710	0.44388134
86	Arginine and proline metabolism_Homo sapiens_hsa00330	0.43690849
87	Renin secretion_Homo sapiens_hsa04924	0.41259281
88	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.38543819
89	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.37147653
90	Pyrimidine metabolism_Homo sapiens_hsa00240	0.35803527
91	Oocyte meiosis_Homo sapiens_hsa04114	0.35392866
92	Dopaminergic synapse_Homo sapiens_hsa04728	0.34837217
93	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.31472362
94	Huntingtons disease_Homo sapiens_hsa05016	0.29926360
95	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.29564162
96	Lysine degradation_Homo sapiens_hsa00310	0.28955170
97	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.28613355
98	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.27565003
99	Oxidative phosphorylation_Homo sapiens_hsa00190	0.27430359
100	Graft-versus-host disease_Homo sapiens_hsa05332	0.27054477

POM121L7

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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