ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axonemal dynein complex assembly (GO:0070286)	6.04677940
2	motile cilium assembly (GO:0044458)	5.20085330
3	cellular ketone body metabolic process (GO:0046950)	5.02044967
4	ketone body metabolic process (GO:1902224)	4.50972413
5	acrosome reaction (GO:0007340)	4.46484987
6	epithelial cilium movement (GO:0003351)	4.44765494
7	microtubule depolymerization (GO:0007019)	4.39153551
8	cilium or flagellum-dependent cell motility (GO:0001539)	4.33960629
9	regulation of cilium movement (GO:0003352)	4.18315501
10	cilium movement (GO:0003341)	4.03385094
11	rRNA modification (GO:0000154)	4.00316192
12	rRNA methylation (GO:0031167)	3.88702284
13	sperm motility (GO:0030317)	3.84256002
14	binding of sperm to zona pellucida (GO:0007339)	3.76728950
15	regulation of mitochondrial translation (GO:0070129)	3.71331595
16	response to pheromone (GO:0019236)	3.66389616
17	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.54717464
18	sperm-egg recognition (GO:0035036)	3.53705356
19	microtubule polymerization or depolymerization (GO:0031109)	3.45131539
20	spermatid nucleus differentiation (GO:0007289)	3.43087653
21	DNA packaging (GO:0006323)	3.41760195
22	COPI coating of Golgi vesicle (GO:0048205)	3.38221002
23	Golgi transport vesicle coating (GO:0048200)	3.38221002
24	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.33285653
25	centriole assembly (GO:0098534)	3.28001824
26	ribosome assembly (GO:0042255)	3.27916214
27	chromosome condensation (GO:0030261)	3.27704498
28	spermatid development (GO:0007286)	3.27108362
29	regulation of centriole replication (GO:0046599)	3.19556322
30	COPII vesicle coating (GO:0048208)	3.16604968
31	proteasome assembly (GO:0043248)	3.09402969
32	cellular response to zinc ion (GO:0071294)	3.08206716
33	protein maturation by protein folding (GO:0022417)	3.05510245
34	regulation of oxidative phosphorylation (GO:0002082)	3.01243679
35	GMP metabolic process (GO:0046037)	2.99728333
36	nucleobase-containing small molecule interconversion (GO:0015949)	2.98948178
37	diterpenoid biosynthetic process (GO:0016102)	2.95186676
38	peptidyl-histidine modification (GO:0018202)	2.92772839
39	pseudouridine synthesis (GO:0001522)	2.90742622
40	mannosylation (GO:0097502)	2.90647505
41	terpenoid biosynthetic process (GO:0016114)	2.90146517
42	S-adenosylmethionine metabolic process (GO:0046500)	2.88659081
43	metanephric nephron tubule development (GO:0072234)	2.88320820
44	metanephric tubule development (GO:0072170)	2.88320820
45	GTP biosynthetic process (GO:0006183)	2.88250846
46	axoneme assembly (GO:0035082)	2.87497047
47	resolution of meiotic recombination intermediates (GO:0000712)	2.86838873
48	sperm capacitation (GO:0048240)	2.84068798
49	calcium ion-dependent exocytosis (GO:0017156)	2.84042349
50	guanosine-containing compound biosynthetic process (GO:1901070)	2.79058439
51	oxidative phosphorylation (GO:0006119)	2.78061305
52	centriole replication (GO:0007099)	2.77364295
53	cell-cell recognition (GO:0009988)	2.75910924
54	pteridine-containing compound biosynthetic process (GO:0042559)	2.75525032
55	formation of translation preinitiation complex (GO:0001731)	2.75467807
56	fusion of sperm to egg plasma membrane (GO:0007342)	2.74981693
57	single fertilization (GO:0007338)	2.73017450
58	short-chain fatty acid metabolic process (GO:0046459)	2.71522496
59	coenzyme catabolic process (GO:0009109)	2.71463216
60	tRNA aminoacylation for protein translation (GO:0006418)	2.69069013
61	potassium ion export (GO:0071435)	2.69046204
62	single strand break repair (GO:0000012)	2.67978496
63	UTP biosynthetic process (GO:0006228)	2.67670324
64	protein K6-linked ubiquitination (GO:0085020)	2.67140972
65	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.66131189
66	tetrahydrofolate metabolic process (GO:0046653)	2.63796110
67	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.63758445
68	deoxyribose phosphate biosynthetic process (GO:0046385)	2.62819283
69	2-deoxyribonucleotide biosynthetic process (GO:0009265)	2.62819283
70	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.62558994
71	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.60384677
72	multicellular organism reproduction (GO:0032504)	2.58790740
73	retinol metabolic process (GO:0042572)	2.57827984
74	UTP metabolic process (GO:0046051)	2.55053264
75	regulation of microtubule-based movement (GO:0060632)	2.54776798
76	protein polyglutamylation (GO:0018095)	2.54013922
77	amino acid activation (GO:0043038)	2.51972209
78	tRNA aminoacylation (GO:0043039)	2.51972209
79	mitotic nuclear envelope disassembly (GO:0007077)	2.51458589
80	isoprenoid biosynthetic process (GO:0008299)	2.50967180
81	respiratory electron transport chain (GO:0022904)	2.48966436
82	regulation of translational fidelity (GO:0006450)	2.48140095
83	electron transport chain (GO:0022900)	2.48113215
84	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	2.47419874
85	nucleoside diphosphate phosphorylation (GO:0006165)	2.46411443
86	C-terminal protein lipidation (GO:0006501)	2.43729759
87	cilium assembly (GO:0042384)	2.41419549
88	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.41335347
89	maturation of 5.8S rRNA (GO:0000460)	2.41034903
90	regulation of histone H3-K27 methylation (GO:0061085)	2.40080098
91	ADP metabolic process (GO:0046031)	2.39581431
92	nuclear envelope reassembly (GO:0031468)	2.39341039
93	mitotic nuclear envelope reassembly (GO:0007084)	2.39341039
94	aerobic respiration (GO:0009060)	2.38548560
95	regulation of translational elongation (GO:0006448)	2.38011792
96	cilium organization (GO:0044782)	2.37511246
97	organic cation transport (GO:0015695)	2.37303937
98	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	2.35323458
99	cullin deneddylation (GO:0010388)	2.34687912
100	branched-chain amino acid catabolic process (GO:0009083)	2.34089583

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	6.06838545
2	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	4.11494795
3	E2F7_22180533_ChIP-Seq_HELA_Human	3.79772218
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.77031349
5	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.32794754
6	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.98405802
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.90890016
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.63096704
9	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.58862595
10	DCP1A_22483619_ChIP-Seq_HELA_Human	2.56434950
11	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.46636900
12	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.45907046
13	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.29273588
14	VDR_23849224_ChIP-Seq_CD4+_Human	2.26226804
15	GABP_19822575_ChIP-Seq_HepG2_Human	2.21510486
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.20382680
17	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.17972060
18	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.08242985
19	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.07978488
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.05982649
21	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.05244227
22	VDR_22108803_ChIP-Seq_LS180_Human	2.03609691
23	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.95190191
24	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.94444324
25	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.90591949
26	FOXP3_21729870_ChIP-Seq_TREG_Human	1.86237868
27	KDM5A_27292631_Chip-Seq_BREAST_Human	1.83688926
28	* XRN2_22483619_ChIP-Seq_HELA_Human	1.82493328
29	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.80468380
30	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.74824965
31	ELK1_19687146_ChIP-ChIP_HELA_Human	1.70175785
32	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.70103662
33	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.67843325
34	TFEB_21752829_ChIP-Seq_HELA_Human	1.66070080
35	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.65054098
36	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.61061663
37	TTF2_22483619_ChIP-Seq_HELA_Human	1.53759901
38	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.53257265
39	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.51497333
40	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.49589479
41	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.47008831
42	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.44850316
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.44260544
44	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.42081122
45	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.41924508
46	NCOR1_26117541_ChIP-Seq_K562_Human	1.38227676
47	ZNF263_19887448_ChIP-Seq_K562_Human	1.35141178
48	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.32550796
49	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.32403150
50	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.30351180
51	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.27799367
52	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.26369030
53	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.26174038
54	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.22923706
55	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21546945
56	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.18278838
57	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.16381068
58	TBX5_21415370_ChIP-Seq_HL-1_Mouse	1.15622008
59	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.14265569
60	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.13468418
61	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.12688984
62	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.12347966
63	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.11769040
64	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.10958569
65	PHF8_20622853_ChIP-Seq_HELA_Human	1.10894061
66	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.10080775
67	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	1.09653132
68	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.07889681
69	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.06814577
70	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.04510901
71	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.04461557
72	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.03965604
73	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.03737712
74	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.03671910
75	ERG_20517297_ChIP-Seq_VCAP_Human	1.03261609
76	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.02972023
77	RBPJ_21746931_ChIP-Seq_IB4_Human	1.02064193
78	FUS_26573619_Chip-Seq_HEK293_Human	1.01221377
79	PHF8_20622854_ChIP-Seq_HELA_Human	1.00550525
80	RAC3_21632823_ChIP-Seq_H3396_Human	0.99583509
81	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	0.97814882
82	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.95360530
83	ER_23166858_ChIP-Seq_MCF-7_Human	0.94773998
84	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.93824963
85	TP53_22573176_ChIP-Seq_HFKS_Human	0.93433350
86	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.93038896
87	CTCF_20526341_ChIP-Seq_ESCs_Human	0.91651398
88	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.91618029
89	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.91402584
90	FOXM1_23109430_ChIP-Seq_U2OS_Human	0.90364795
91	E2F1_20622854_ChIP-Seq_HELA_Human	0.90254107
92	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.90172231
93	ERA_21632823_ChIP-Seq_H3396_Human	0.88800143
94	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.88650448
95	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.88545064
96	NFYB_21822215_ChIP-Seq_K562_Human	0.88431359
97	NCOR_22424771_ChIP-Seq_293T_Human	0.88273887
98	IGF1R_20145208_ChIP-Seq_DFB_Human	0.87708257
99	MYC_18940864_ChIP-ChIP_HL60_Human	0.87681754
100	SPI1_20517297_ChIP-Seq_HL60_Human	0.86789453

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	4.54996847
2	MP0009697_abnormal_copulation	3.10107651
3	MP0002132_abnormal_respiratory_system	2.84824407
4	MP0001661_extended_life_span	2.77155200
5	MP0008995_early_reproductive_senescence	2.61151954
6	MP0002909_abnormal_adrenal_gland	2.60889027
7	MP0006036_abnormal_mitochondrial_physio	2.59624846
8	MP0003195_calcinosis	2.58487534
9	MP0003786_premature_aging	2.53440007
10	MP0009046_muscle_twitch	2.49341681
11	MP0000013_abnormal_adipose_tissue	2.48744081
12	MP0006072_abnormal_retinal_apoptosis	2.46398853
13	MP0000678_abnormal_parathyroid_gland	2.34658404
14	MP0001929_abnormal_gametogenesis	2.28375148
15	MP0004043_abnormal_pH_regulation	2.23100970
16	MP0003698_abnormal_male_reproductive	2.20392275
17	MP0006035_abnormal_mitochondrial_morpho	2.17100742
18	MP0001944_abnormal_pancreas_morphology	2.13377674
19	MP0008058_abnormal_DNA_repair	2.12925633
20	MP0005636_abnormal_mineral_homeostasis	2.07892127
21	MP0003656_abnormal_erythrocyte_physiolo	2.06299897
22	MP0001764_abnormal_homeostasis	1.97995432
23	MP0001765_abnormal_ion_homeostasis	1.97264074
24	MP0003111_abnormal_nucleus_morphology	1.95040751
25	MP0002160_abnormal_reproductive_system	1.87985636
26	MP0005379_endocrine/exocrine_gland_phen	1.86846360
27	MP0001529_abnormal_vocalization	1.84835164
28	MP0005253_abnormal_eye_physiology	1.67345268
29	MP0010234_abnormal_vibrissa_follicle	1.64981474
30	MP0005083_abnormal_biliary_tract	1.64286816
31	MP0005332_abnormal_amino_acid	1.58795564
32	MP0002693_abnormal_pancreas_physiology	1.56909709
33	MP0005220_abnormal_exocrine_pancreas	1.55627175
34	MP0001756_abnormal_urination	1.52491608
35	MP0009780_abnormal_chondrocyte_physiolo	1.50973784
36	MP0000003_abnormal_adipose_tissue	1.50943417
37	MP0001984_abnormal_olfaction	1.49624575
38	MP0004019_abnormal_vitamin_homeostasis	1.48600811
39	MP0003186_abnormal_redox_activity	1.47878275
40	MP0003693_abnormal_embryo_hatching	1.47706251
41	MP0004147_increased_porphyrin_level	1.47495582
42	MP0001905_abnormal_dopamine_level	1.45206266
43	MP0000639_abnormal_adrenal_gland	1.42955308
44	MP0002837_dystrophic_cardiac_calcinosis	1.40080316
45	MP0002102_abnormal_ear_morphology	1.35641693
46	MP0003077_abnormal_cell_cycle	1.33508067
47	MP0005646_abnormal_pituitary_gland	1.33077258
48	MP0010094_abnormal_chromosome_stability	1.31714675
49	MP0002161_abnormal_fertility/fecundity	1.30229875
50	MP0002210_abnormal_sex_determination	1.28699240
51	MP0002009_preneoplasia	1.27778820
52	MP0008875_abnormal_xenobiotic_pharmacok	1.25535696
53	MP0003011_delayed_dark_adaptation	1.24977583
54	MP0000653_abnormal_sex_gland	1.23825633
55	MP0002234_abnormal_pharynx_morphology	1.22833919
56	MP0003718_maternal_effect	1.20270961
57	MP0001145_abnormal_male_reproductive	1.20018757
58	MP0000358_abnormal_cell_content/	1.17819979
59	MP0002163_abnormal_gland_morphology	1.14467418
60	MP0002638_abnormal_pupillary_reflex	1.11922495
61	MP0004957_abnormal_blastocyst_morpholog	1.06621159
62	MP0000681_abnormal_thyroid_gland	1.06027138
63	MP0005645_abnormal_hypothalamus_physiol	1.05570659
64	MP0002166_altered_tumor_susceptibility	1.04503363
65	MP0005451_abnormal_body_composition	1.00790879
66	MP0002272_abnormal_nervous_system	1.00280337
67	MP0002332_abnormal_exercise_endurance	0.99250545
68	MP0002078_abnormal_glucose_homeostasis	0.97546070
69	MP0000613_abnormal_salivary_gland	0.96890289
70	MP0005535_abnormal_body_temperature	0.95201365
71	MP0002229_neurodegeneration	0.95190436
72	MP0001502_abnormal_circadian_rhythm	0.94445626
73	MP0000631_abnormal_neuroendocrine_gland	0.92874016
74	MP0005670_abnormal_white_adipose	0.90379086
75	MP0005389_reproductive_system_phenotype	0.89664739
76	MP0008789_abnormal_olfactory_epithelium	0.85058967
77	MP0008932_abnormal_embryonic_tissue	0.84790751
78	MP0005266_abnormal_metabolism	0.84521452
79	MP0009643_abnormal_urine_homeostasis	0.84410021
80	MP0005551_abnormal_eye_electrophysiolog	0.83381565
81	MP0004142_abnormal_muscle_tone	0.82751517
82	MP0003953_abnormal_hormone_level	0.75192095
83	MP0008007_abnormal_cellular_replicative	0.73714507
84	MP0004233_abnormal_muscle_weight	0.73362631
85	MP0002006_tumorigenesis	0.70626840
86	MP0003137_abnormal_impulse_conducting	0.70173311
87	MP0001968_abnormal_touch/_nociception	0.69101508
88	MP0000647_abnormal_sebaceous_gland	0.66928782
89	MP0004085_abnormal_heartbeat	0.65900263
90	MP0005499_abnormal_olfactory_system	0.65410539
91	MP0005394_taste/olfaction_phenotype	0.65410539
92	MP0001270_distended_abdomen	0.65273499
93	MP0005375_adipose_tissue_phenotype	0.65264975
94	MP0009745_abnormal_behavioral_response	0.65046788
95	MP0005623_abnormal_meninges_morphology	0.63749602
96	MP0003806_abnormal_nucleotide_metabolis	0.63484057
97	MP0002090_abnormal_vision	0.62709578
98	MP0000313_abnormal_cell_death	0.61944000
99	MP0005376_homeostasis/metabolism_phenot	0.61048414
100	MP0005395_other_phenotype	0.60819358

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.72823152
2	Abnormal respiratory epithelium morphology (HP:0012253)	4.48979018
3	Abnormal respiratory motile cilium morphology (HP:0005938)	4.48979018
4	Abnormal respiratory motile cilium physiology (HP:0012261)	4.25886688
5	Abnormal ciliary motility (HP:0012262)	4.22232691
6	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.11271444
7	Absent/shortened dynein arms (HP:0200106)	4.11271444
8	Increased circulating renin level (HP:0000848)	4.09998370
9	Rhinitis (HP:0012384)	3.99068876
10	Hyperactive renin-angiotensin system (HP:0000841)	3.19538359
11	Truncus arteriosus (HP:0001660)	3.18435869
12	Hyperinsulinemic hypoglycemia (HP:0000825)	3.10174027
13	Acute necrotizing encephalopathy (HP:0006965)	3.01770017
14	Hypomagnesemia (HP:0002917)	3.01665454
15	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.88375200
16	Abnormal mitochondria in muscle tissue (HP:0008316)	2.82457814
17	Abnormal rod and cone electroretinograms (HP:0008323)	2.79205487
18	Abnormality of magnesium homeostasis (HP:0004921)	2.77040296
19	Male infertility (HP:0003251)	2.76295993
20	Tetany (HP:0001281)	2.74421871
21	Hyperthyroidism (HP:0000836)	2.73978501
22	Bronchiectasis (HP:0002110)	2.73328052
23	Acute encephalopathy (HP:0006846)	2.72495415
24	Chronic bronchitis (HP:0004469)	2.71345334
25	Renal Fanconi syndrome (HP:0001994)	2.67412218
26	Hyperglycemia (HP:0003074)	2.61171857
27	Mitochondrial inheritance (HP:0001427)	2.60179111
28	Renal salt wasting (HP:0000127)	2.60157322
29	Entropion (HP:0000621)	2.58256069
30	Hypoglycemic coma (HP:0001325)	2.54954831
31	Progressive macrocephaly (HP:0004481)	2.54529603
32	Bony spicule pigmentary retinopathy (HP:0007737)	2.53172227
33	Hepatic necrosis (HP:0002605)	2.49971014
34	Hyponatremia (HP:0002902)	2.48919809
35	Congenital primary aphakia (HP:0007707)	2.46291341
36	Hypokalemic alkalosis (HP:0001949)	2.42887738
37	Increased CSF lactate (HP:0002490)	2.42719874
38	Medial flaring of the eyebrow (HP:0010747)	2.40475187
39	Retinal dysplasia (HP:0007973)	2.39958992
40	Nephrogenic diabetes insipidus (HP:0009806)	2.38966345
41	Infertility (HP:0000789)	2.38370916
42	Abnormality of renin-angiotensin system (HP:0000847)	2.36356267
43	Atelectasis (HP:0100750)	2.35201388
44	Ketoacidosis (HP:0001993)	2.33894505
45	Hepatocellular necrosis (HP:0001404)	2.32019195
46	Hyperaldosteronism (HP:0000859)	2.31651034
47	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.31283398
48	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.31283398
49	Nasal polyposis (HP:0100582)	2.30233203
50	Gait imbalance (HP:0002141)	2.30210188
51	Median cleft lip (HP:0000161)	2.21878185
52	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.20570736
53	Abnormal protein N-linked glycosylation (HP:0012347)	2.20570736
54	Abnormal protein glycosylation (HP:0012346)	2.20570736
55	Abnormal glycosylation (HP:0012345)	2.20570736
56	Unilateral renal agenesis (HP:0000122)	2.18124035
57	Hypoglycemic seizures (HP:0002173)	2.14768854
58	Cerebral edema (HP:0002181)	2.14145913
59	Poor suck (HP:0002033)	2.13124015
60	Attenuation of retinal blood vessels (HP:0007843)	2.10252195
61	Abnormality of glycolysis (HP:0004366)	2.10077451
62	Pancreatic fibrosis (HP:0100732)	2.09652175
63	Increased hepatocellular lipid droplets (HP:0006565)	2.09246283
64	Abnormal gallbladder physiology (HP:0012438)	2.03996366
65	Cholecystitis (HP:0001082)	2.03996366
66	Brushfield spots (HP:0001088)	2.02906246
67	Increased serum lactate (HP:0002151)	2.02782590
68	Abnormality of chloride homeostasis (HP:0011422)	2.02323132
69	Proximal tubulopathy (HP:0000114)	2.01672425
70	Postural tremor (HP:0002174)	2.00423303
71	Metabolic alkalosis (HP:0200114)	1.99808415
72	Increased serum pyruvate (HP:0003542)	1.93963262
73	Polyuria (HP:0000103)	1.93815578
74	Acanthocytosis (HP:0001927)	1.93735356
75	Occipital encephalocele (HP:0002085)	1.93456575
76	Lactic acidosis (HP:0003128)	1.91862263
77	Abnormality of renal resorption (HP:0011038)	1.91633202
78	Insulin-resistant diabetes mellitus (HP:0000831)	1.90778915
79	Hyperphosphaturia (HP:0003109)	1.90778038
80	Abnormality of urine glucose concentration (HP:0011016)	1.88120992
81	Glycosuria (HP:0003076)	1.88120992
82	Lipid accumulation in hepatocytes (HP:0006561)	1.87825371
83	Abnormal drinking behavior (HP:0030082)	1.86711829
84	Polydipsia (HP:0001959)	1.86711829
85	Generalized aminoaciduria (HP:0002909)	1.86560560
86	Aplasia/hypoplasia of the uterus (HP:0008684)	1.84607633
87	Sclerocornea (HP:0000647)	1.83936895
88	Abnormality of DNA repair (HP:0003254)	1.82000467
89	Ketosis (HP:0001946)	1.80534279
90	Abnormality of sodium homeostasis (HP:0010931)	1.80221149
91	Alkalosis (HP:0001948)	1.79962394
92	Aplastic anemia (HP:0001915)	1.79489103
93	Self-mutilation (HP:0000742)	1.77786905
94	Respiratory failure (HP:0002878)	1.76186192
95	Male pseudohermaphroditism (HP:0000037)	1.75366869
96	Type I transferrin isoform profile (HP:0003642)	1.74634743
97	Sex reversal (HP:0012245)	1.73794578
98	Abnormal sex determination (HP:0012244)	1.73794578
99	Hyperkalemia (HP:0002153)	1.72514068
100	Severe visual impairment (HP:0001141)	1.71357013

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	5.63890535
2	TESK1	5.06690700
3	PLK4	3.66657866
4	NME1	3.30024842
5	MST4	2.74697109
6	BUB1	2.68022940
7	PINK1	2.62876981
8	WNK3	2.56164047
9	EIF2AK1	2.52120509
10	MAPKAPK3	2.45611730
11	ARAF	2.20812917
12	SCYL2	2.20404680
13	TTK	1.89896519
14	MAP3K2	1.83353844
15	WNK4	1.63690847
16	MST1R	1.56885826
17	STK38	1.54980703
18	ZAK	1.54089162
19	NEK2	1.53846101
20	EIF2AK3	1.53248570
21	MAPK15	1.50800438
22	PHKG2	1.45141963
23	PHKG1	1.45141963
24	MAP3K4	1.44374259
25	KDR	1.40073679
26	BRAF	1.37790047
27	MAP2K7	1.33186424
28	BRSK2	1.25742164
29	NME2	1.21152697
30	CLK1	1.18268641
31	OXSR1	1.15237963
32	PBK	1.15002741
33	PLK2	1.12944754
34	BRSK1	1.06931477
35	KSR2	1.02137689
36	MAP3K3	1.00703564
37	DAPK1	0.94546740
38	CSNK1G3	0.92920695
39	PIM2	0.91458107
40	SRPK1	0.88199091
41	STK39	0.84162528
42	BCKDK	0.83263663
43	STK16	0.83043231
44	RPS6KA5	0.79444831
45	CCNB1	0.79182307
46	EPHA2	0.77118319
47	PLK1	0.76929334
48	RAF1	0.76514497
49	NEK1	0.74810184
50	MAP3K12	0.72472292
51	STK4	0.71929755
52	TESK2	0.71746122
53	CHEK2	0.71661753
54	PLK3	0.70715417
55	MAP3K8	0.70657153
56	CSNK1A1L	0.70468255
57	TRIM28	0.68975601
58	VRK1	0.68430557
59	TNK2	0.65387203
60	FRK	0.65298836
61	AURKA	0.64288487
62	INSRR	0.64067771
63	EPHA3	0.62687262
64	CSNK1G1	0.60896340
65	CDK8	0.59839997
66	WEE1	0.58417224
67	AKT2	0.57841621
68	MARK3	0.57034851
69	NTRK3	0.56305789
70	VRK2	0.53969424
71	LIMK1	0.53376960
72	PAK1	0.51990516
73	LMTK2	0.51660479
74	TRPM7	0.51362891
75	GRK1	0.51065989
76	RPS6KA4	0.49608017
77	AURKB	0.48033740
78	CHEK1	0.46629856
79	PASK	0.45749001
80	CSNK1G2	0.44895493
81	ABL2	0.44642085
82	BCR	0.43768047
83	MYLK	0.39390036
84	WNK1	0.36826245
85	STK3	0.36624226
86	ICK	0.33417236
87	HIPK2	0.32772825
88	ATR	0.32762958
89	SGK494	0.32007576
90	SGK223	0.32007576
91	PRKCG	0.31523182
92	PRKAA1	0.31329455
93	STK38L	0.31081549
94	CDK1	0.29408873
95	CDK7	0.29222422
96	CDK3	0.28429912
97	TAOK2	0.27957021
98	MAP3K1	0.27728427
99	EIF2AK2	0.27366895
100	CSNK2A2	0.27146666

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.83458894
2	Protein export_Homo sapiens_hsa03060	2.71014108
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.68600246
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.45549210
5	Butanoate metabolism_Homo sapiens_hsa00650	2.41913337
6	RNA polymerase_Homo sapiens_hsa03020	2.37619731
7	One carbon pool by folate_Homo sapiens_hsa00670	2.26534238
8	Folate biosynthesis_Homo sapiens_hsa00790	2.23435731
9	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.22453975
10	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.19362162
11	DNA replication_Homo sapiens_hsa03030	2.08258734
12	Huntingtons disease_Homo sapiens_hsa05016	1.88344607
13	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.88322510
14	Mismatch repair_Homo sapiens_hsa03430	1.87006327
15	Parkinsons disease_Homo sapiens_hsa05012	1.84932632
16	Nucleotide excision repair_Homo sapiens_hsa03420	1.82363816
17	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.78836323
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.74957082
19	Pyrimidine metabolism_Homo sapiens_hsa00240	1.70309569
20	Pyruvate metabolism_Homo sapiens_hsa00620	1.69041279
21	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.67041910
22	Collecting duct acid secretion_Homo sapiens_hsa04966	1.66962033
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.66658316
24	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.64371372
25	Proteasome_Homo sapiens_hsa03050	1.64095889
26	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.63877046
27	RNA transport_Homo sapiens_hsa03013	1.56412682
28	Propanoate metabolism_Homo sapiens_hsa00640	1.56027212
29	Purine metabolism_Homo sapiens_hsa00230	1.51266304
30	Fanconi anemia pathway_Homo sapiens_hsa03460	1.40664508
31	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.40182006
32	Homologous recombination_Homo sapiens_hsa03440	1.37539670
33	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.30815943
34	Carbon metabolism_Homo sapiens_hsa01200	1.30470794
35	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.28398700
36	Nitrogen metabolism_Homo sapiens_hsa00910	1.26852703
37	Alzheimers disease_Homo sapiens_hsa05010	1.25799423
38	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.25330719
39	Base excision repair_Homo sapiens_hsa03410	1.20499171
40	Oocyte meiosis_Homo sapiens_hsa04114	1.17456113
41	Circadian rhythm_Homo sapiens_hsa04710	1.16363298
42	Vibrio cholerae infection_Homo sapiens_hsa05110	1.14225485
43	Arginine biosynthesis_Homo sapiens_hsa00220	1.12987969
44	Glutathione metabolism_Homo sapiens_hsa00480	1.10828744
45	Fatty acid elongation_Homo sapiens_hsa00062	1.09700055
46	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.08200217
47	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.05157567
48	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.02136174
49	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.98746277
50	Metabolic pathways_Homo sapiens_hsa01100	0.95435193
51	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.95335733
52	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.94819804
53	Peroxisome_Homo sapiens_hsa04146	0.94256458
54	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.93505752
55	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.92433992
56	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.90406983
57	Basal transcription factors_Homo sapiens_hsa03022	0.90324253
58	Regulation of autophagy_Homo sapiens_hsa04140	0.89920483
59	Fatty acid metabolism_Homo sapiens_hsa01212	0.89723788
60	Olfactory transduction_Homo sapiens_hsa04740	0.88248038
61	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.85430904
62	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.83241794
63	Cardiac muscle contraction_Homo sapiens_hsa04260	0.79056490
64	Sulfur relay system_Homo sapiens_hsa04122	0.78899395
65	Cell cycle_Homo sapiens_hsa04110	0.78712802
66	Spliceosome_Homo sapiens_hsa03040	0.77717700
67	Selenocompound metabolism_Homo sapiens_hsa00450	0.76517953
68	Phenylalanine metabolism_Homo sapiens_hsa00360	0.75284932
69	Steroid biosynthesis_Homo sapiens_hsa00100	0.70664887
70	Tyrosine metabolism_Homo sapiens_hsa00350	0.70646065
71	RNA degradation_Homo sapiens_hsa03018	0.68989301
72	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.68033305
73	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.67813981
74	Legionellosis_Homo sapiens_hsa05134	0.64572487
75	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.63036698
76	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.62746075
77	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.61746691
78	Mineral absorption_Homo sapiens_hsa04978	0.58302567
79	Insulin secretion_Homo sapiens_hsa04911	0.57440148
80	mRNA surveillance pathway_Homo sapiens_hsa03015	0.57384284
81	p53 signaling pathway_Homo sapiens_hsa04115	0.56028049
82	Pentose phosphate pathway_Homo sapiens_hsa00030	0.55699925
83	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.55421485
84	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.46680971
85	Taste transduction_Homo sapiens_hsa04742	0.45794853
86	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.44326352
87	beta-Alanine metabolism_Homo sapiens_hsa00410	0.44243979
88	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.43063308
89	Retinol metabolism_Homo sapiens_hsa00830	0.43008106
90	Alcoholism_Homo sapiens_hsa05034	0.42649936
91	GABAergic synapse_Homo sapiens_hsa04727	0.42568897
92	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.41290176
93	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.40556981
94	Arginine and proline metabolism_Homo sapiens_hsa00330	0.31637920
95	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.29126583
96	Chemical carcinogenesis_Homo sapiens_hsa05204	0.28368724
97	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.26717458
98	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.26206404
99	Shigellosis_Homo sapiens_hsa05131	0.25669276
100	Type II diabetes mellitus_Homo sapiens_hsa04930	0.23800366

FAM27B

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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