ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	chromosome condensation (GO:0030261)	9.84058869
2	DNA packaging (GO:0006323)	9.38579748
3	sperm capacitation (GO:0048240)	8.89130346
4	microtubule depolymerization (GO:0007019)	8.70504066
5	plasma membrane fusion (GO:0045026)	8.44457450
6	spermatid development (GO:0007286)	8.20576472
7	single strand break repair (GO:0000012)	8.19224007
8	spermatid nucleus differentiation (GO:0007289)	8.07963896
9	response to pheromone (GO:0019236)	7.94301253
10	protein targeting to Golgi (GO:0000042)	7.68001804
11	sperm-egg recognition (GO:0035036)	7.56777963
12	rRNA methylation (GO:0031167)	7.55302227
13	protein polyglutamylation (GO:0018095)	7.40573294
14	microtubule polymerization or depolymerization (GO:0031109)	7.36514177
15	establishment of protein localization to Golgi (GO:0072600)	7.35663259
16	retrograde transport, vesicle recycling within Golgi (GO:0000301)	7.16237798
17	binding of sperm to zona pellucida (GO:0007339)	7.12724479
18	multicellular organism reproduction (GO:0032504)	6.97186641
19	sexual reproduction (GO:0019953)	6.84254072
20	reproduction (GO:0000003)	6.69285101
21	negative regulation of inclusion body assembly (GO:0090084)	6.66100298
22	calcium ion-dependent exocytosis (GO:0017156)	6.55543129
23	rRNA modification (GO:0000154)	6.36739038
24	phosphatidylethanolamine biosynthetic process (GO:0006646)	6.33313765
25	* spermatogenesis (GO:0007283)	6.33278405
26	* male gamete generation (GO:0048232)	6.31180828
27	cell-cell recognition (GO:0009988)	6.21605903
28	axonemal dynein complex assembly (GO:0070286)	6.19770624
29	centriole replication (GO:0007099)	5.97903376
30	phosphatidylethanolamine metabolic process (GO:0046337)	5.84911240
31	microtubule severing (GO:0051013)	5.80799673
32	* gamete generation (GO:0007276)	5.79420146
33	protein localization to Golgi apparatus (GO:0034067)	5.53134903
34	cellular ketone body metabolic process (GO:0046950)	5.37181332
35	centriole assembly (GO:0098534)	5.36433385
36	single fertilization (GO:0007338)	5.23810375
37	motile cilium assembly (GO:0044458)	5.18363844
38	regulation of centriole replication (GO:0046599)	5.10197566
39	regulation of cilium movement (GO:0003352)	5.09257121
40	seminiferous tubule development (GO:0072520)	4.97059389
41	RNA destabilization (GO:0050779)	4.93180676
42	regulation of inclusion body assembly (GO:0090083)	4.79855758
43	regulation of Rab GTPase activity (GO:0032313)	4.79458270
44	positive regulation of Rab GTPase activity (GO:0032851)	4.79458270
45	cilium or flagellum-dependent cell motility (GO:0001539)	4.76358414
46	ketone body metabolic process (GO:1902224)	4.73569168
47	germ cell development (GO:0007281)	4.69857932
48	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	4.66982038
49	glomerular visceral epithelial cell development (GO:0072015)	4.65038574
50	* multicellular organismal reproductive process (GO:0048609)	4.63595084
51	chromatin silencing (GO:0006342)	4.51241651
52	fertilization (GO:0009566)	4.47191349
53	cellular process involved in reproduction in multicellular organism (GO:0022412)	4.44239625
54	cell wall macromolecule catabolic process (GO:0016998)	4.42171106
55	nucleus organization (GO:0006997)	4.41918289
56	glomerular epithelial cell development (GO:0072310)	4.38305464
57	epithelial cilium movement (GO:0003351)	4.31616491
58	cell wall macromolecule metabolic process (GO:0044036)	4.10548437
59	glycerol ether metabolic process (GO:0006662)	4.01562773
60	regulation of transcription involved in cell fate commitment (GO:0060850)	3.97368286
61	multicellular organismal movement (GO:0050879)	3.81376614
62	musculoskeletal movement (GO:0050881)	3.81376614
63	microtubule nucleation (GO:0007020)	3.80126120
64	coenzyme catabolic process (GO:0009109)	3.78564510
65	cilium movement (GO:0003341)	3.76513799
66	ether metabolic process (GO:0018904)	3.70150451
67	negative regulation of Rho protein signal transduction (GO:0035024)	3.57213359
68	nuclear pore complex assembly (GO:0051292)	3.46775312
69	nucleosome disassembly (GO:0006337)	3.44226637
70	protein-DNA complex disassembly (GO:0032986)	3.44226637
71	membrane protein intracellular domain proteolysis (GO:0031293)	3.41406406
72	organic cation transport (GO:0015695)	3.37989255
73	regulation of microtubule-based movement (GO:0060632)	3.36710834
74	polyamine biosynthetic process (GO:0006596)	3.30992115
75	protein depolymerization (GO:0051261)	3.28753026
76	histone H3-K9 demethylation (GO:0033169)	3.20614370
77	response to acidic pH (GO:0010447)	3.14545747
78	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.14535927
79	cellular response to pH (GO:0071467)	3.09396282
80	DNA conformation change (GO:0071103)	3.08275619
81	regulation of interleukin-13 production (GO:0032656)	3.06725086
82	multicellular organismal development (GO:0007275)	3.06084385
83	negative regulation of gene expression, epigenetic (GO:0045814)	3.05535766
84	cell recognition (GO:0008037)	3.02530753
85	homeostasis of number of cells within a tissue (GO:0048873)	3.02378165
86	cerebral cortex neuron differentiation (GO:0021895)	2.98381957
87	peptidyl-threonine dephosphorylation (GO:0035970)	2.90947961
88	regulation of T-helper 2 cell differentiation (GO:0045628)	2.90018698
89	receptor recycling (GO:0001881)	2.87311921
90	intra-Golgi vesicle-mediated transport (GO:0006891)	2.86507590
91	ventricular system development (GO:0021591)	2.79796630
92	mesenchymal cell differentiation involved in kidney development (GO:0072161)	2.75907035
93	mesenchymal cell differentiation involved in renal system development (GO:2001012)	2.75907035
94	regulation of phosphoprotein phosphatase activity (GO:0043666)	2.74607540
95	mitotic G1 DNA damage checkpoint (GO:0031571)	2.72262001
96	regulation of ARF GTPase activity (GO:0032312)	2.70468424
97	piRNA metabolic process (GO:0034587)	2.69487231
98	sperm motility (GO:0030317)	12.1048460
99	acrosome reaction (GO:0007340)	12.0099994
100	fusion of sperm to egg plasma membrane (GO:0007342)	11.1464078

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	5.18125048
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.33597460
3	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	3.71374593
4	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.60702419
5	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	2.60702419
6	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.25585068
7	CBP_20019798_ChIP-Seq_JUKART_Human	2.25585068
8	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.22675801
9	FUS_26573619_Chip-Seq_HEK293_Human	2.16388774
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.16195552
11	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.10431113
12	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	2.04239621
13	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.98424040
14	RAC3_21632823_ChIP-Seq_H3396_Human	1.95579672
15	ERA_21632823_ChIP-Seq_H3396_Human	1.92391143
16	EZH2_22144423_ChIP-Seq_EOC_Human	1.87542201
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.83391049
18	DROSHA_22980978_ChIP-Seq_HELA_Human	1.83085880
19	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.81215313
20	NANOG_20526341_ChIP-Seq_ESCs_Human	1.73817488
21	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.72368275
22	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.71354235
23	CTCF_27219007_Chip-Seq_Bcells_Human	1.68950445
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.68177439
25	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.68091889
26	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.67510615
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.66097253
28	MYC_19829295_ChIP-Seq_ESCs_Human	1.65009011
29	TAF2_19829295_ChIP-Seq_ESCs_Human	1.61802679
30	ER_23166858_ChIP-Seq_MCF-7_Human	1.61064260
31	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.58706775
32	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.58052681
33	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.56445871
34	BCL6_27268052_Chip-Seq_Bcells_Human	1.54109035
35	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.52631717
36	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.51359736
37	SMC4_20622854_ChIP-Seq_HELA_Human	1.51030539
38	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.50235808
39	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.47965959
40	E2F1_20622854_ChIP-Seq_HELA_Human	1.47398311
41	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.47248469
42	RBPJ_21746931_ChIP-Seq_IB4_Human	1.45853136
43	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.44927682
44	TP63_22573176_ChIP-Seq_HFKS_Human	1.44463607
45	CTCF_20526341_ChIP-Seq_ESCs_Human	1.44388335
46	BCOR_27268052_Chip-Seq_Bcells_Human	1.44381454
47	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.43120560
48	OCT4_20526341_ChIP-Seq_ESCs_Human	1.42540572
49	TP53_18474530_ChIP-ChIP_U2OS_Human	1.42237794
50	P68_20966046_ChIP-Seq_HELA_Human	1.41558764
51	PHF8_20622854_ChIP-Seq_HELA_Human	1.40477576
52	ETV1_20927104_ChIP-Seq_GIST48_Human	1.38343932
53	AR_25329375_ChIP-Seq_VCAP_Human	1.37322580
54	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.34997179
55	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.34877085
56	ERG_20517297_ChIP-Seq_VCAP_Human	1.32087634
57	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31345647
58	NFYB_21822215_ChIP-Seq_K562_Human	1.29110870
59	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.28551327
60	P300_19829295_ChIP-Seq_ESCs_Human	1.27627363
61	TBL1_22424771_ChIP-Seq_293T_Human	1.26677324
62	CEBPB_22108803_ChIP-Seq_LS180_Human	1.26202906
63	LXR_22292898_ChIP-Seq_THP-1_Human	1.26148781
64	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.24761269
65	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.24718768
66	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.24650822
67	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.24445490
68	P300_27268052_Chip-Seq_Bcells_Human	1.24222829
69	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.24120560
70	SOX2_22085726_ChIP-Seq_NPCs_Mouse	1.22585650
71	PHF8_20622853_ChIP-Seq_HELA_Human	1.21081555
72	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.18322109
73	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.18062968
74	RUNX_20019798_ChIP-Seq_JUKART_Human	1.17734256
75	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.17605273
76	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.16962143
77	KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse	1.15926347
78	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.15920488
79	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.13505141
80	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.13450411
81	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.12001274
82	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11381521
83	P53_21459846_ChIP-Seq_SAOS-2_Human	1.11329255
84	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.10502951
85	SA1_27219007_Chip-Seq_Bcells_Human	1.10229435
86	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.08993765
87	RUNX1_26923725_Chip-Seq_HPCs_Mouse	1.08319570
88	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.06582643
89	NFYA_21822215_ChIP-Seq_K562_Human	1.05504405
90	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04590573
91	TAF15_26573619_Chip-Seq_HEK293_Human	1.04302147
92	SMRT_27268052_Chip-Seq_Bcells_Human	1.03752368
93	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.03070329
94	ZNF274_21170338_ChIP-Seq_K562_Hela	1.01931062
95	SMAD4_21799915_ChIP-Seq_A2780_Human	1.01896629
96	STAT3_23295773_ChIP-Seq_U87_Human	1.01252956
97	SOX2_19829295_ChIP-Seq_ESCs_Human	1.00907613
98	NANOG_19829295_ChIP-Seq_ESCs_Human	1.00907613
99	HOXB7_26014856_ChIP-Seq_BT474_Human	1.00116705
100	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.98729925

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003878_abnormal_ear_physiology	5.42529423
2	MP0005377_hearing/vestibular/ear_phenot	5.42529423
3	MP0005670_abnormal_white_adipose	4.58646928
4	MP0003698_abnormal_male_reproductive	4.51370224
5	MP0001929_abnormal_gametogenesis	3.96332518
6	MP0001348_abnormal_lacrimal_gland	3.73974983
7	MP0002161_abnormal_fertility/fecundity	2.50742538
8	MP0003011_delayed_dark_adaptation	2.37316310
9	MP0000678_abnormal_parathyroid_gland	2.27754069
10	MP0003718_maternal_effect	2.26662334
11	MP0003646_muscle_fatigue	2.15416285
12	MP0005410_abnormal_fertilization	12.3081863
13	MP0002132_abnormal_respiratory_system	1.89478315
14	MP0005379_endocrine/exocrine_gland_phen	1.79474652
15	MP0002210_abnormal_sex_determination	1.78833799
16	MP0001485_abnormal_pinna_reflex	1.69472556
17	MP0005423_abnormal_somatic_nervous	1.66959282
18	MP0005310_abnormal_salivary_gland	1.61147136
19	MP0001486_abnormal_startle_reflex	1.58549866
20	MP0005451_abnormal_body_composition	1.50776218
21	MP0001145_abnormal_male_reproductive	1.47691009
22	MP0004742_abnormal_vestibular_system	1.41273707
23	MP0003879_abnormal_hair_cell	1.39461204
24	MP0000653_abnormal_sex_gland	1.37022529
25	MP0004510_myositis	1.36195532
26	MP0009053_abnormal_anal_canal	1.34739534
27	MP0002234_abnormal_pharynx_morphology	1.34705564
28	MP0002249_abnormal_larynx_morphology	1.33214312
29	MP0002282_abnormal_trachea_morphology	1.32421267
30	MP0004859_abnormal_synaptic_plasticity	1.22407061
31	MP0002138_abnormal_hepatobiliary_system	1.18988786
32	MP0001765_abnormal_ion_homeostasis	1.16053312
33	MP0001963_abnormal_hearing_physiology	1.14606573
34	MP0000534_abnormal_ureter_morphology	1.05083146
35	MP0001968_abnormal_touch/_nociception	1.03586153
36	MP0008877_abnormal_DNA_methylation	0.99740293
37	MP0002735_abnormal_chemical_nociception	0.98764735
38	MP0005395_other_phenotype	0.98577606
39	MP0005248_abnormal_Harderian_gland	0.95502870
40	MP0009115_abnormal_fat_cell	0.94452679
41	MP0002127_abnormal_cardiovascular_syste	0.94296373
42	MP0000026_abnormal_inner_ear	0.93771232
43	MP0005551_abnormal_eye_electrophysiolog	0.90614613
44	MP0002229_neurodegeneration	0.88442569
45	MP0005253_abnormal_eye_physiology	0.84855684
46	MP0005083_abnormal_biliary_tract	0.78861458
47	MP0000955_abnormal_spinal_cord	0.78789809
48	MP0005666_abnormal_adipose_tissue	0.78314014
49	MP0009697_abnormal_copulation	0.77742977
50	MP0001984_abnormal_olfaction	0.77109420
51	MP0008995_early_reproductive_senescence	0.76223901
52	MP0002067_abnormal_sensory_capabilities	0.71569374
53	MP0008569_lethality_at_weaning	0.71156857
54	MP0002733_abnormal_thermal_nociception	0.69514685
55	MP0004233_abnormal_muscle_weight	0.66515036
56	MP0000681_abnormal_thyroid_gland	0.66396378
57	MP0004085_abnormal_heartbeat	0.66278684
58	MP0005636_abnormal_mineral_homeostasis	0.63918687
59	MP0002557_abnormal_social/conspecific_i	0.62271909
60	MP0000049_abnormal_middle_ear	0.60651969
61	MP0005167_abnormal_blood-brain_barrier	0.60157642
62	MP0005375_adipose_tissue_phenotype	0.60138622
63	MP0003077_abnormal_cell_cycle	0.59664903
64	MP0005367_renal/urinary_system_phenotyp	0.58535928
65	MP0000516_abnormal_urinary_system	0.58535928
66	MP0002822_catalepsy	0.55840467
67	MP0002572_abnormal_emotion/affect_behav	0.53777357
68	MP0005408_hypopigmentation	0.48290542
69	MP0001879_abnormal_lymphatic_vessel	0.48077153
70	MP0001666_abnormal_nutrient_absorption	0.47019856
71	MP0004036_abnormal_muscle_relaxation	0.46813749
72	MP0001905_abnormal_dopamine_level	0.46525790
73	MP0000230_abnormal_systemic_arterial	0.45621726
74	MP0002272_abnormal_nervous_system	0.45590550
75	MP0001970_abnormal_pain_threshold	0.44522164
76	MP0002928_abnormal_bile_duct	0.43603825
77	MP0003329_amyloid_beta_deposits	0.43595396
78	MP0000003_abnormal_adipose_tissue	0.43513537
79	MP0001501_abnormal_sleep_pattern	0.43499173
80	MP0005535_abnormal_body_temperature	0.42161939
81	MP0003137_abnormal_impulse_conducting	0.41725656
82	MP0002734_abnormal_mechanical_nocicepti	0.39993980
83	MP0008961_abnormal_basal_metabolism	0.39409554
84	MP0005391_vision/eye_phenotype	0.39150362
85	MP0004484_altered_response_of	0.38835922
86	MP0001440_abnormal_grooming_behavior	0.38563265
87	MP0005332_abnormal_amino_acid	0.38367032
88	MP0004084_abnormal_cardiac_muscle	0.37931696
89	MP0010329_abnormal_lipoprotein_level	0.37399437
90	MP0009745_abnormal_behavioral_response	0.36230199
91	MP0005623_abnormal_meninges_morphology	0.35441460
92	MP0003631_nervous_system_phenotype	0.34866789
93	MP0002653_abnormal_ependyma_morphology	0.34456668
94	MP0003699_abnormal_female_reproductive	0.34359206
95	MP0002269_muscular_atrophy	0.32404116
96	MP0001270_distended_abdomen	0.32276471
97	MP0005084_abnormal_gallbladder_morpholo	0.32214916
98	MP0000249_abnormal_blood_vessel	0.31445889
99	MP0005595_abnormal_vascular_smooth	0.31139134
100	MP0003119_abnormal_digestive_system	0.30854961

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	8.03876009
2	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.22515783
3	Absent/shortened dynein arms (HP:0200106)	6.22515783
4	Tubulointerstitial nephritis (HP:0001970)	5.95649797
5	Asymmetric septal hypertrophy (HP:0001670)	5.70938729
6	Chronic hepatic failure (HP:0100626)	5.53079970
7	Bony spicule pigmentary retinopathy (HP:0007737)	4.89386999
8	Attenuation of retinal blood vessels (HP:0007843)	4.87098143
9	Resting tremor (HP:0002322)	4.67097561
10	Abnormal ciliary motility (HP:0012262)	4.66763241
11	Abnormal respiratory motile cilium physiology (HP:0012261)	4.63353964
12	Nasal polyposis (HP:0100582)	4.48485952
13	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	4.45654251
14	Male infertility (HP:0003251)	4.39242624
15	Hyperkalemia (HP:0002153)	4.38131120
16	Cone-rod dystrophy (HP:0000548)	4.32048211
17	Abnormal respiratory epithelium morphology (HP:0012253)	4.28771266
18	Abnormal respiratory motile cilium morphology (HP:0005938)	4.28771266
19	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.24128898
20	Abnormality of macular pigmentation (HP:0008002)	4.21224164
21	Infertility (HP:0000789)	4.16837289
22	Aplasia/Hypoplasia of the earlobes (HP:0009906)	3.72980748
23	Abnormal rod and cone electroretinograms (HP:0008323)	3.72514936
24	Bell-shaped thorax (HP:0001591)	3.70675257
25	Abnormality of the nasal mucosa (HP:0000433)	3.64356931
26	Hypoalphalipoproteinemia (HP:0003233)	3.59075371
27	Progressive sensorineural hearing impairment (HP:0000408)	3.53858094
28	Potter facies (HP:0002009)	3.50747380
29	Facial shape deformation (HP:0011334)	3.50747380
30	Hypoplasia of the thymus (HP:0000778)	3.41529651
31	Menstrual irregularities (HP:0000858)	3.39615692
32	Enlarged epiphyses (HP:0010580)	3.37723245
33	Impulsivity (HP:0100710)	3.33424629
34	Hypoplastic ischia (HP:0003175)	3.25913360
35	Abnormal spermatogenesis (HP:0008669)	3.20091156
36	Postural instability (HP:0002172)	3.15405037
37	Amelogenesis imperfecta (HP:0000705)	3.14419583
38	Abnormality of dental color (HP:0011073)	3.04562587
39	Azoospermia (HP:0000027)	3.00861383
40	Stage 5 chronic kidney disease (HP:0003774)	2.99709341
41	Truncal obesity (HP:0001956)	2.95695315
42	Renovascular hypertension (HP:0100817)	2.94271697
43	Abnormality of the ischium (HP:0003174)	2.90410357
44	Insulin-resistant diabetes mellitus (HP:0000831)	2.81765704
45	Progressive cerebellar ataxia (HP:0002073)	2.75692680
46	Portal hypertension (HP:0001409)	2.69487882
47	Tubulointerstitial abnormality (HP:0001969)	2.67699917
48	Rhinitis (HP:0012384)	2.67651498
49	Unilateral renal agenesis (HP:0000122)	2.66654394
50	Nephronophthisis (HP:0000090)	2.59771965
51	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.56116111
52	Abnormal urine output (HP:0012590)	2.55890318
53	Generalized aminoaciduria (HP:0002909)	2.54850965
54	Focal segmental glomerulosclerosis (HP:0000097)	2.53239786
55	Abnormality of the hepatic vasculature (HP:0006707)	2.47534368
56	Abnormality of the aortic arch (HP:0012303)	2.43419372
57	Abnormality of potassium homeostasis (HP:0011042)	2.41569598
58	Abnormality of the costochondral junction (HP:0000919)	2.38893232
59	Double outlet right ventricle (HP:0001719)	2.31517522
60	Congenital malformation of the right heart (HP:0011723)	2.31517522
61	Hyperuricemia (HP:0002149)	2.31128994
62	Increased purine levels (HP:0004368)	2.31128994
63	Progressive hearing impairment (HP:0001730)	2.28382444
64	Flattened epiphyses (HP:0003071)	2.25068226
65	Osteomalacia (HP:0002749)	2.23713588
66	Abnormal drinking behavior (HP:0030082)	2.23522681
67	Polydipsia (HP:0001959)	2.23522681
68	Renal dysplasia (HP:0000110)	2.21385299
69	Abnormality of the renal medulla (HP:0100957)	2.21189088
70	Abnormality of renal excretion (HP:0011036)	2.20362717
71	Chronic bronchitis (HP:0004469)	2.19669025
72	Ventricular tachycardia (HP:0004756)	2.18491541
73	Subcapsular cataract (HP:0000523)	2.10885970
74	Intellectual disability, moderate (HP:0002342)	2.09641105
75	Myokymia (HP:0002411)	2.04290638
76	Polyuria (HP:0000103)	2.03080090
77	Bronchiectasis (HP:0002110)	2.00965268
78	Glomerulosclerosis (HP:0000096)	2.00425958
79	Hypophosphatemic rickets (HP:0004912)	1.92801334
80	Abnormality of the epiphysis of the femoral head (HP:0010574)	1.92689057
81	Hyponatremia (HP:0002902)	1.91005119
82	Recurrent pneumonia (HP:0006532)	1.90823784
83	Upper limb muscle weakness (HP:0003484)	1.89897407
84	Decreased central vision (HP:0007663)	1.88445464
85	Abnormality of the parathyroid morphology (HP:0011766)	1.87177748
86	Optic nerve hypoplasia (HP:0000609)	1.86302058
87	Widely patent fontanelles and sutures (HP:0004492)	1.85131098
88	Bradycardia (HP:0001662)	1.83433332
89	Abnormal albumin level (HP:0012116)	1.82851419
90	Hypoalbuminemia (HP:0003073)	1.82851419
91	Absent epiphyses (HP:0010577)	1.82678155
92	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.82678155
93	Abnormality of femoral epiphyses (HP:0006499)	1.78619126
94	Abnormality involving the epiphyses of the lower limbs (HP:0006500)	1.78619126
95	Renal Fanconi syndrome (HP:0001994)	1.77837902
96	Hypolipoproteinemia (HP:0010981)	1.77255529
97	Epiphyseal dysplasia (HP:0002656)	1.76471240
98	Photophobia (HP:0000613)	1.74375552
99	Horizontal nystagmus (HP:0000666)	1.74361632
100	Flat capital femoral epiphysis (HP:0003370)	1.74074687

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	9.21454672
2	TESK1	5.04361635
3	INSRR	4.56056506
4	DDR2	4.04911000
5	BRD4	4.03023989
6	MAP4K2	3.61658130
7	PLK2	3.43820416
8	PNCK	3.07013926
9	STK38	2.88564147
10	CAMK1G	2.38339975
11	PIK3CG	2.28736845
12	STK38L	2.23982807
13	PRKD3	2.22471377
14	MAPK15	1.85825699
15	WNK1	1.68375456
16	MST1R	1.62866380
17	CDK12	1.62166626
18	PDPK1	1.54679452
19	PDK1	1.52287696
20	NEK6	1.46675501
21	TYRO3	1.33714660
22	DYRK1B	1.27586985
23	PTK2B	1.17207685
24	CDK7	1.12057221
25	KSR2	1.05962742
26	MAP3K9	1.04967858
27	AKT3	0.87820361
28	CAMK1D	0.85735652
29	BRAF	0.77984999
30	LATS2	0.76468673
31	PRKG2	0.73122344
32	MAP3K11	0.72758611
33	SIK2	0.69368348
34	TIE1	0.60166329
35	RPS6KA2	0.59107952
36	MAP2K2	0.58930570
37	PRKG1	0.58393225
38	PRKAA2	0.58116387
39	CDK3	0.56621201
40	CAMK1	0.56112307
41	RPS6KA1	0.53483994
42	UHMK1	0.51111964
43	MAP3K2	0.51021585
44	MARK1	0.49685146
45	MAP3K8	0.49041960
46	WNK4	0.43542154
47	CDK2	0.42945024
48	ROCK1	0.42799117
49	GSK3B	0.42476088
50	CDK1	0.41520472
51	MAPK1	0.40068348
52	SGK223	0.39235511
53	SGK494	0.39235511
54	LATS1	0.38742953
55	MUSK	0.38203401
56	BRSK1	0.37561386
57	BMPR1B	0.36636564
58	MAP3K1	0.36557214
59	MTOR	0.34538935
60	NTRK3	0.34317551
61	ARAF	0.33100723
62	PINK1	0.32735725
63	CDK4	0.32179694
64	CAMK4	0.31483918
65	STK39	0.31401040
66	MAPK8	0.30571407
67	PRKCG	0.30513843
68	PRKCZ	0.29619625
69	CHEK1	0.29092674
70	SGK1	0.27964046
71	RPS6KC1	0.27675181
72	RPS6KL1	0.27675181
73	MARK2	0.27346792
74	RPS6KA6	0.24521966
75	MAP3K4	0.22538821
76	MAPK14	0.21837884
77	MAPK10	0.19458260
78	PRKCB	0.19442014
79	MET	0.18951577
80	BLK	0.18771853
81	BRSK2	0.17883589
82	AKT1	0.15564347
83	PKN1	0.14398131
84	JAK3	0.13936911
85	MAPK11	0.12873146
86	RIPK4	0.12438975
87	NEK2	0.11043477
88	PRKACB	0.09670310
89	SGK2	0.07962881
90	PRKACA	0.07620361
91	MAP3K7	0.06971588
92	MAPK9	0.06571036
93	PRKAA1	0.06113663
94	TNIK	0.06022033
95	TESK2	0.04990856
96	RPS6KA3	0.04413665
97	MAP3K13	0.04116303
98	OXSR1	0.03342931
99	CAMK2A	0.03209748
100	DYRK3	0.02302589

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	7.74273189
2	Fatty acid biosynthesis_Homo sapiens_hsa00061	6.45523471
3	Olfactory transduction_Homo sapiens_hsa04740	3.93636936
4	Butanoate metabolism_Homo sapiens_hsa00650	2.62294665
5	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	2.31368737
6	Glycerophospholipid metabolism_Homo sapiens_hsa00564	2.14017476
7	RNA transport_Homo sapiens_hsa03013	1.92916235
8	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.77656259
9	Fatty acid degradation_Homo sapiens_hsa00071	1.75418354
10	Taste transduction_Homo sapiens_hsa04742	1.75196377
11	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.59415256
12	Type I diabetes mellitus_Homo sapiens_hsa04940	1.58447110
13	Type II diabetes mellitus_Homo sapiens_hsa04930	1.57858657
14	Phenylalanine metabolism_Homo sapiens_hsa00360	1.56936522
15	Antigen processing and presentation_Homo sapiens_hsa04612	1.56340059
16	Allograft rejection_Homo sapiens_hsa05330	1.54530135
17	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.52880369
18	Fatty acid metabolism_Homo sapiens_hsa01212	1.52529693
19	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.46153339
20	Graft-versus-host disease_Homo sapiens_hsa05332	1.38400734
21	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.33439353
22	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.29513353
23	Arginine and proline metabolism_Homo sapiens_hsa00330	1.23124359
24	Viral myocarditis_Homo sapiens_hsa05416	1.16066013
25	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.11176803
26	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.10527163
27	Arginine biosynthesis_Homo sapiens_hsa00220	1.04193587
28	Phototransduction_Homo sapiens_hsa04744	1.01074801
29	Endocytosis_Homo sapiens_hsa04144	1.00506175
30	Protein digestion and absorption_Homo sapiens_hsa04974	0.99948068
31	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.98320470
32	Salivary secretion_Homo sapiens_hsa04970	0.96147740
33	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.93969401
34	Cardiac muscle contraction_Homo sapiens_hsa04260	0.90675833
35	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.87358041
36	Influenza A_Homo sapiens_hsa05164	0.87323028
37	PPAR signaling pathway_Homo sapiens_hsa03320	0.86593320
38	ABC transporters_Homo sapiens_hsa02010	0.85370965
39	Glycerolipid metabolism_Homo sapiens_hsa00561	0.84786393
40	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.83838472
41	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.83131811
42	cAMP signaling pathway_Homo sapiens_hsa04024	0.82433339
43	Oocyte meiosis_Homo sapiens_hsa04114	0.80967560
44	Calcium signaling pathway_Homo sapiens_hsa04020	0.80587670
45	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.79215010
46	Morphine addiction_Homo sapiens_hsa05032	0.77424374
47	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.76093464
48	Fat digestion and absorption_Homo sapiens_hsa04975	0.74484386
49	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.73797177
50	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.72998997
51	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.72861656
52	Nicotine addiction_Homo sapiens_hsa05033	0.72152448
53	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.67036555
54	Estrogen signaling pathway_Homo sapiens_hsa04915	0.66499027
55	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.64980930
56	Glutamatergic synapse_Homo sapiens_hsa04724	0.63446271
57	VEGF signaling pathway_Homo sapiens_hsa04370	0.61581889
58	Tyrosine metabolism_Homo sapiens_hsa00350	0.61348795
59	Retinol metabolism_Homo sapiens_hsa00830	0.59808906
60	Renin-angiotensin system_Homo sapiens_hsa04614	0.59393288
61	Circadian entrainment_Homo sapiens_hsa04713	0.56292355
62	mRNA surveillance pathway_Homo sapiens_hsa03015	0.55493583
63	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.52816388
64	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.51188830
65	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.48071911
66	Renin secretion_Homo sapiens_hsa04924	0.45499427
67	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.45317309
68	Bile secretion_Homo sapiens_hsa04976	0.44161598
69	Nitrogen metabolism_Homo sapiens_hsa00910	0.43716794
70	Insulin secretion_Homo sapiens_hsa04911	0.43151988
71	Purine metabolism_Homo sapiens_hsa00230	0.42725005
72	Serotonergic synapse_Homo sapiens_hsa04726	0.42506996
73	MAPK signaling pathway_Homo sapiens_hsa04010	0.41516788
74	Pancreatic secretion_Homo sapiens_hsa04972	0.40320894
75	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.39942477
76	Gastric acid secretion_Homo sapiens_hsa04971	0.39370161
77	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.39237998
78	Fanconi anemia pathway_Homo sapiens_hsa03460	0.37510704
79	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.37204272
80	Long-term potentiation_Homo sapiens_hsa04720	0.35255740
81	Acute myeloid leukemia_Homo sapiens_hsa05221	0.34778265
82	Cholinergic synapse_Homo sapiens_hsa04725	0.28610901
83	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.26602147
84	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.26383230
85	Tight junction_Homo sapiens_hsa04530	0.25880732
86	GABAergic synapse_Homo sapiens_hsa04727	0.25556616
87	Basal transcription factors_Homo sapiens_hsa03022	0.25241149
88	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.25216656
89	ECM-receptor interaction_Homo sapiens_hsa04512	0.24879131
90	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.24766336
91	Selenocompound metabolism_Homo sapiens_hsa00450	0.21881554
92	Herpes simplex infection_Homo sapiens_hsa05168	0.19864183
93	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.19233446
94	Huntingtons disease_Homo sapiens_hsa05016	0.17032398
95	Carbon metabolism_Homo sapiens_hsa01200	0.16608148
96	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.16206561
97	Legionellosis_Homo sapiens_hsa05134	0.15731054
98	beta-Alanine metabolism_Homo sapiens_hsa00410	0.15295074
99	Choline metabolism in cancer_Homo sapiens_hsa05231	0.14813924
100	Amphetamine addiction_Homo sapiens_hsa05031	0.14748596

SPATA31C2

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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