ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	purine ribonucleotide transport (GO:0015868)	7.89616134
2	nucleotide transmembrane transport (GO:1901679)	7.87586794
3	adenine nucleotide transport (GO:0051503)	7.47575557
4	nucleoside transmembrane transport (GO:1901642)	6.78858988
5	heme transport (GO:0015886)	6.41786787
6	regulation of phospholipid biosynthetic process (GO:0071071)	6.26322783
7	regulation of isotype switching to IgG isotypes (GO:0048302)	6.24562642
8	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	5.96521482
9	negative regulation of type 2 immune response (GO:0002829)	5.90030222
10	organic cation transport (GO:0015695)	5.89679870
11	purine nucleotide transport (GO:0015865)	5.85691743
12	cofactor transport (GO:0051181)	5.71226830
13	phosphatidylcholine acyl-chain remodeling (GO:0036151)	5.68240067
14	negative regulation of telomerase activity (GO:0051974)	5.58023095
15	surfactant homeostasis (GO:0043129)	5.18366676
16	chaperone-mediated protein transport (GO:0072321)	5.12195742
17	folic acid transport (GO:0015884)	4.97510635
18	telomere maintenance via telomerase (GO:0007004)	4.89327283
19	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.89033869
20	iron coordination entity transport (GO:1901678)	4.73712907
21	positive regulation of T-helper 1 type immune response (GO:0002827)	4.72236993
22	protein K6-linked ubiquitination (GO:0085020)	4.55453107
23	nucleoside transport (GO:0015858)	4.51371522
24	chemical homeostasis within a tissue (GO:0048875)	4.46570059
25	synapsis (GO:0007129)	4.45496516
26	folic acid-containing compound biosynthetic process (GO:0009396)	4.42453265
27	establishment of nucleus localization (GO:0040023)	4.34534134
28	phosphatidylinositol acyl-chain remodeling (GO:0036149)	4.31450053
29	ATP synthesis coupled proton transport (GO:0015986)	4.02959928
30	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.02959928
31	negative regulation of multicellular organism growth (GO:0040015)	3.99724815
32	nucleotide transport (GO:0006862)	3.92366576
33	positive regulation of translational initiation (GO:0045948)	3.92300469
34	protein K63-linked deubiquitination (GO:0070536)	3.90787724
35	regulation of feeding behavior (GO:0060259)	3.90326988
36	regulation of telomerase activity (GO:0051972)	3.88436138
37	neuron remodeling (GO:0016322)	3.82373919
38	protein neddylation (GO:0045116)	3.79113493
39	DNA deamination (GO:0045006)	3.77759425
40	glycerophospholipid catabolic process (GO:0046475)	3.74139102
41	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	3.67983990
42	polarized epithelial cell differentiation (GO:0030859)	3.60711758
43	male meiosis I (GO:0007141)	3.60049858
44	positive regulation of interleukin-8 biosynthetic process (GO:0045416)	3.59098565
45	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.48325350
46	folic acid-containing compound metabolic process (GO:0006760)	3.45728155
47	folic acid metabolic process (GO:0046655)	3.43622133
48	regulation of T-helper 1 type immune response (GO:0002825)	3.40866226
49	kynurenine metabolic process (GO:0070189)	3.36229448
50	negative regulation of DNA biosynthetic process (GO:2000279)	3.33993109
51	cellular ketone body metabolic process (GO:0046950)	3.24272745
52	serine family amino acid biosynthetic process (GO:0009070)	3.21726191
53	phosphatidylglycerol metabolic process (GO:0046471)	3.21426819
54	regulation of centriole replication (GO:0046599)	3.21013013
55	behavioral response to nicotine (GO:0035095)	3.14998833
56	keratan sulfate biosynthetic process (GO:0018146)	3.12256889
57	water-soluble vitamin biosynthetic process (GO:0042364)	3.10498792
58	RNA-dependent DNA replication (GO:0006278)	3.10026756
59	atrial cardiac muscle cell action potential (GO:0086014)	3.06236828
60	negative regulation of telomere maintenance (GO:0032205)	3.05728228
61	pteridine-containing compound biosynthetic process (GO:0042559)	3.02805916
62	maintenance of protein location in nucleus (GO:0051457)	3.02267644
63	negative regulation of alcohol biosynthetic process (GO:1902931)	2.98354797
64	regulation of interferon-beta biosynthetic process (GO:0045357)	2.96714493
65	inositol phosphate catabolic process (GO:0071545)	2.94641171
66	ketone body metabolic process (GO:1902224)	2.93776402
67	killing of cells of other organism (GO:0031640)	2.92456724
68	disruption of cells of other organism (GO:0044364)	2.92456724
69	parturition (GO:0007567)	2.91074907
70	maturation of 5.8S rRNA (GO:0000460)	2.90970839
71	multicellular organism reproduction (GO:0032504)	2.84825110
72	glycine metabolic process (GO:0006544)	2.84266448
73	pteridine-containing compound metabolic process (GO:0042558)	2.83401560
74	reciprocal DNA recombination (GO:0035825)	2.83241393
75	reciprocal meiotic recombination (GO:0007131)	2.83241393
76	collecting duct development (GO:0072044)	2.83217346
77	regulation of cilium movement (GO:0003352)	2.81714760
78	phosphatidic acid biosynthetic process (GO:0006654)	2.74878408
79	phosphatidic acid metabolic process (GO:0046473)	2.74878408
80	indole-containing compound catabolic process (GO:0042436)	2.74624795
81	indolalkylamine catabolic process (GO:0046218)	2.74624795
82	tryptophan catabolic process (GO:0006569)	2.74624795
83	protein deneddylation (GO:0000338)	2.73945244
84	regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)	2.73784853
85	tetrahydrofolate metabolic process (GO:0046653)	2.72025391
86	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	2.70063874
87	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.69131979
88	inositol phosphate dephosphorylation (GO:0046855)	2.69131979
89	negative regulation of mast cell activation (GO:0033004)	2.68848578
90	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.65400876
91	meiosis I (GO:0007127)	2.63964457
92	response to pheromone (GO:0019236)	2.62318624
93	protein localization to cilium (GO:0061512)	2.61588981
94	indolalkylamine metabolic process (GO:0006586)	2.59948689
95	substrate-dependent cell migration (GO:0006929)	2.58466985
96	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.55539550
97	cytidine metabolic process (GO:0046087)	2.52972026
98	cytidine catabolic process (GO:0006216)	2.52972026
99	cytidine deamination (GO:0009972)	2.52972026
100	exogenous drug catabolic process (GO:0042738)	2.52583542

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.34704314
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.28383513
3	VDR_22108803_ChIP-Seq_LS180_Human	3.19188497
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.81086865
5	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.72579117
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.66264563
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49729429
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.36432706
9	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.21065884
10	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.19746813
11	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	2.19589842
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.16807245
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.15927467
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.13169662
15	EWS_26573619_Chip-Seq_HEK293_Human	2.12462152
16	FUS_26573619_Chip-Seq_HEK293_Human	2.02648848
17	ER_23166858_ChIP-Seq_MCF-7_Human	1.94994867
18	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.87946487
19	P300_19829295_ChIP-Seq_ESCs_Human	1.83428594
20	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.83056041
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.81977608
22	EZH2_22144423_ChIP-Seq_EOC_Human	1.78437158
23	TP53_22573176_ChIP-Seq_HFKS_Human	1.74409783
24	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.67614147
25	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.60564683
26	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.58361777
27	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.57335813
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.57042321
29	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.55909172
30	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.55439133
31	STAT3_23295773_ChIP-Seq_U87_Human	1.54349327
32	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.52970541
33	IGF1R_20145208_ChIP-Seq_DFB_Human	1.52246346
34	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.50353540
35	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.50353540
36	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.49222716
37	TCF4_23295773_ChIP-Seq_U87_Human	1.49124350
38	CBP_20019798_ChIP-Seq_JUKART_Human	1.48606954
39	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.48606954
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.47478178
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.45634234
42	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.45485328
43	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.45328640
44	SMAD4_21799915_ChIP-Seq_A2780_Human	1.44138301
45	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41043306
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39649867
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39649867
48	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.38233492
49	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.38139305
50	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.36398715
51	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.35094496
52	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.34900281
53	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.34240976
54	BCAT_22108803_ChIP-Seq_LS180_Human	1.32741696
55	VDR_23849224_ChIP-Seq_CD4+_Human	1.32024743
56	AR_20517297_ChIP-Seq_VCAP_Human	1.31587156
57	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.31076522
58	TCF4_22108803_ChIP-Seq_LS180_Human	1.30447956
59	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30091232
60	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.26665329
61	NCOR_22424771_ChIP-Seq_293T_Human	1.26301964
62	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.26168507
63	AR_25329375_ChIP-Seq_VCAP_Human	1.25505581
64	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.24574810
65	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.23990127
66	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23410754
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.22683781
68	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.22381344
69	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.21357642
70	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.18952444
71	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.18228943
72	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.15807685
73	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.14704301
74	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.14508194
75	RUNX2_22187159_ChIP-Seq_PCA_Human	1.13922452
76	GATA3_26560356_Chip-Seq_TH2_Human	1.11540521
77	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.10337996
78	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.08438782
79	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.08051406
80	AR_21572438_ChIP-Seq_LNCaP_Human	1.07286545
81	GATA1_22025678_ChIP-Seq_K562_Human	1.06774418
82	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.06700669
83	IRF1_19129219_ChIP-ChIP_H3396_Human	1.05498614
84	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.05443954
85	P53_22387025_ChIP-Seq_ESCs_Mouse	1.05382422
86	CDX2_22108803_ChIP-Seq_LS180_Human	1.05335163
87	REST_21632747_ChIP-Seq_MESCs_Mouse	1.05219406
88	ELK1_19687146_ChIP-ChIP_HELA_Human	1.04097632
89	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.03816851
90	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02861692
91	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.02753571
92	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.02398982
93	RXR_22108803_ChIP-Seq_LS180_Human	1.01992875
94	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.00474593
95	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.00374466
96	RNF2_27304074_Chip-Seq_NSC_Mouse	1.00045943
97	OCT4_20526341_ChIP-Seq_ESCs_Human	0.98632353
98	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	0.97519267
99	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.95390692
100	HOXB7_26014856_ChIP-Seq_BT474_Human	0.95388077

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004782_abnormal_surfactant_physiolog	5.17252152
2	MP0003011_delayed_dark_adaptation	4.16380367
3	MP0002653_abnormal_ependyma_morphology	4.03705172
4	MP0003195_calcinosis	3.21091603
5	MP0001177_atelectasis	3.17132919
6	MP0005551_abnormal_eye_electrophysiolog	2.77814317
7	MP0008877_abnormal_DNA_methylation	2.72978542
8	MP0002332_abnormal_exercise_endurance	2.36802356
9	MP0002837_dystrophic_cardiac_calcinosis	2.12963502
10	MP0002102_abnormal_ear_morphology	2.10629752
11	MP0001440_abnormal_grooming_behavior	2.08136946
12	MP0002736_abnormal_nociception_after	2.00577017
13	MP0001968_abnormal_touch/_nociception	1.98029624
14	MP0003137_abnormal_impulse_conducting	1.88634536
15	MP0008875_abnormal_xenobiotic_pharmacok	1.85649657
16	MP0005394_taste/olfaction_phenotype	1.83664373
17	MP0005499_abnormal_olfactory_system	1.83664373
18	MP0002295_abnormal_pulmonary_circulatio	1.75520227
19	MP0002876_abnormal_thyroid_physiology	1.72420827
20	MP0005253_abnormal_eye_physiology	1.71530871
21	MP0002160_abnormal_reproductive_system	1.68818116
22	MP0005085_abnormal_gallbladder_physiolo	1.65152859
23	MP0004142_abnormal_muscle_tone	1.60903333
24	MP0006072_abnormal_retinal_apoptosis	1.56397604
25	MP0002938_white_spotting	1.55134171
26	MP0005389_reproductive_system_phenotype	1.54349050
27	MP0001986_abnormal_taste_sensitivity	1.47003690
28	MP0003890_abnormal_embryonic-extraembry	1.44081970
29	MP0008872_abnormal_physiological_respon	1.42416901
30	MP0001293_anophthalmia	1.37954686
31	MP0006292_abnormal_olfactory_placode	1.37061246
32	MP0009046_muscle_twitch	1.36590690
33	MP0001873_stomach_inflammation	1.36371779
34	MP0009745_abnormal_behavioral_response	1.36275594
35	MP0002638_abnormal_pupillary_reflex	1.36115168
36	MP0003183_abnormal_peptide_metabolism	1.34225079
37	MP0000427_abnormal_hair_cycle	1.33969630
38	MP0000566_synostosis	1.32467459
39	MP0005645_abnormal_hypothalamus_physiol	1.30237994
40	MP0000372_irregular_coat_pigmentation	1.26178534
41	MP0001984_abnormal_olfaction	1.25724696
42	MP0003787_abnormal_imprinting	1.22276286
43	MP0000569_abnormal_digit_pigmentation	1.20574976
44	MP0000462_abnormal_digestive_system	1.19485207
45	MP0010030_abnormal_orbit_morphology	1.16579623
46	MP0000383_abnormal_hair_follicle	1.14831706
47	MP0008789_abnormal_olfactory_epithelium	1.14020311
48	MP0002133_abnormal_respiratory_system	1.12227092
49	MP0005388_respiratory_system_phenotype	1.12227092
50	MP0002272_abnormal_nervous_system	1.11691339
51	MP0009764_decreased_sensitivity_to	1.06323851
52	MP0001919_abnormal_reproductive_system	1.05888328
53	MP0000631_abnormal_neuroendocrine_gland	1.05538929
54	MP0001485_abnormal_pinna_reflex	1.03945739
55	MP0003646_muscle_fatigue	1.02658906
56	MP0001529_abnormal_vocalization	1.02049161
57	MP0006276_abnormal_autonomic_nervous	1.01651747
58	MP0010386_abnormal_urinary_bladder	1.01251150
59	MP0004885_abnormal_endolymph	0.99096972
60	MP0005266_abnormal_metabolism	0.98044393
61	MP0004924_abnormal_behavior	0.97725337
62	MP0005386_behavior/neurological_phenoty	0.97725337
63	MP0001501_abnormal_sleep_pattern	0.96805285
64	MP0005646_abnormal_pituitary_gland	0.96031871
65	MP0002751_abnormal_autonomic_nervous	0.95617210
66	MP0005332_abnormal_amino_acid	0.91536087
67	MP0001486_abnormal_startle_reflex	0.91250801
68	MP0002693_abnormal_pancreas_physiology	0.90180326
69	MP0001929_abnormal_gametogenesis	0.88909851
70	MP0002928_abnormal_bile_duct	0.87806562
71	MP0002557_abnormal_social/conspecific_i	0.87804417
72	MP0004133_heterotaxia	0.87728743
73	MP0001851_eye_inflammation	0.86759081
74	MP0002572_abnormal_emotion/affect_behav	0.86717347
75	MP0004085_abnormal_heartbeat	0.86661192
76	MP0000538_abnormal_urinary_bladder	0.85396264
77	MP0001502_abnormal_circadian_rhythm	0.85176892
78	MP0003880_abnormal_central_pattern	0.85170476
79	MP0005084_abnormal_gallbladder_morpholo	0.85079342
80	MP0003959_abnormal_lean_body	0.83036949
81	MP0001905_abnormal_dopamine_level	0.81210515
82	MP0003698_abnormal_male_reproductive	0.81205574
83	MP0002163_abnormal_gland_morphology	0.80269617
84	MP0005379_endocrine/exocrine_gland_phen	0.78525242
85	MP0004145_abnormal_muscle_electrophysio	0.78471497
86	MP0001944_abnormal_pancreas_morphology	0.78114066
87	MP0000647_abnormal_sebaceous_gland	0.76997940
88	MP0002210_abnormal_sex_determination	0.75712279
89	MP0002064_seizures	0.75419196
90	MP0005365_abnormal_bile_salt	0.75070414
91	MP0005220_abnormal_exocrine_pancreas	0.74923789
92	MP0005448_abnormal_energy_balance	0.74600965
93	MP0005391_vision/eye_phenotype	0.74452796
94	MP0006036_abnormal_mitochondrial_physio	0.74156632
95	MP0005195_abnormal_posterior_eye	0.73271329
96	MP0002735_abnormal_chemical_nociception	0.72037116
97	MP0002752_abnormal_somatic_nervous	0.71858424
98	MP0002095_abnormal_skin_pigmentation	0.71324701
99	MP0001119_abnormal_female_reproductive	0.71222990
100	MP0002069_abnormal_eating/drinking_beha	0.69268715

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Chronic hepatic failure (HP:0100626)	4.20112876
2	Abnormality of midbrain morphology (HP:0002418)	4.00298757
3	Molar tooth sign on MRI (HP:0002419)	4.00298757
4	Cheilitis (HP:0100825)	3.65268950
5	Pancreatic cysts (HP:0001737)	3.51338572
6	Stomach cancer (HP:0012126)	3.46557455
7	Congenital stationary night blindness (HP:0007642)	3.45924943
8	Large for gestational age (HP:0001520)	3.33690511
9	Pancreatic fibrosis (HP:0100732)	3.32667551
10	Abnormality of eosinophils (HP:0001879)	3.28088417
11	True hermaphroditism (HP:0010459)	3.27032354
12	Abnormality of the renal cortex (HP:0011035)	3.14327294
13	Megaloblastic anemia (HP:0001889)	3.02439552
14	Short 1st metacarpal (HP:0010034)	2.87904424
15	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.87904424
16	Abnormality of the labia minora (HP:0012880)	2.87545140
17	Abnormality of macular pigmentation (HP:0008002)	2.86030143
18	Dyskinesia (HP:0100660)	2.84180197
19	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.79941784
20	Absent/shortened dynein arms (HP:0200106)	2.79941784
21	Nephronophthisis (HP:0000090)	2.72162625
22	Medial flaring of the eyebrow (HP:0010747)	2.71275752
23	Renal cortical cysts (HP:0000803)	2.69862751
24	Conical tooth (HP:0000698)	2.55300220
25	Congenital, generalized hypertrichosis (HP:0004540)	2.54334668
26	Abolished electroretinogram (ERG) (HP:0000550)	2.52462806
27	Abnormality of the 1st metacarpal (HP:0010009)	2.52348358
28	Basal ganglia calcification (HP:0002135)	2.48239103
29	Polydipsia (HP:0001959)	2.45463858
30	Abnormal drinking behavior (HP:0030082)	2.45463858
31	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.45388860
32	Sclerocornea (HP:0000647)	2.38622715
33	Cystic liver disease (HP:0006706)	2.36271225
34	Abnormality of the renal medulla (HP:0100957)	2.33282530
35	Progressive cerebellar ataxia (HP:0002073)	2.32195817
36	Rib fusion (HP:0000902)	2.31050400
37	Tubular atrophy (HP:0000092)	2.26967038
38	Increased hepatocellular lipid droplets (HP:0006565)	2.25738633
39	Proximal amyotrophy (HP:0007126)	2.20863926
40	Abnormal biliary tract physiology (HP:0012439)	2.20351953
41	Bile duct proliferation (HP:0001408)	2.20351953
42	Lipid accumulation in hepatocytes (HP:0006561)	2.17649580
43	Congenital primary aphakia (HP:0007707)	2.16732919
44	Gait imbalance (HP:0002141)	2.15828252
45	Decreased circulating renin level (HP:0003351)	2.15001442
46	IgG deficiency (HP:0004315)	2.11481974
47	Retinal dysplasia (HP:0007973)	2.10314411
48	Genital tract atresia (HP:0001827)	2.10042842
49	Vaginal atresia (HP:0000148)	2.08744820
50	Hypothermia (HP:0002045)	2.08519999
51	Abnormal respiratory epithelium morphology (HP:0012253)	2.07541782
52	Abnormal respiratory motile cilium morphology (HP:0005938)	2.07541782
53	Protruding tongue (HP:0010808)	2.06735476
54	Long clavicles (HP:0000890)	2.04194371
55	Gaze-evoked nystagmus (HP:0000640)	2.03267290
56	Impaired smooth pursuit (HP:0007772)	2.01672764
57	Methylmalonic acidemia (HP:0002912)	2.00168800
58	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.99694843
59	Nephrogenic diabetes insipidus (HP:0009806)	1.97616871
60	Hypoalbuminemia (HP:0003073)	1.97436065
61	Abnormal albumin level (HP:0012116)	1.97436065
62	Stomatitis (HP:0010280)	1.96151475
63	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.95111859
64	Inability to walk (HP:0002540)	1.94537880
65	Abnormal delayed hypersensitivity skin test (HP:0002963)	1.94444438
66	Abnormality of incisor morphology (HP:0011063)	1.93456525
67	Polyuria (HP:0000103)	1.91240215
68	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.90954435
69	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.90954435
70	Genetic anticipation (HP:0003743)	1.90276990
71	Attenuation of retinal blood vessels (HP:0007843)	1.89228210
72	Congenital hepatic fibrosis (HP:0002612)	1.89089720
73	Type II lissencephaly (HP:0007260)	1.88790346
74	Chronic otitis media (HP:0000389)	1.88533510
75	Tachypnea (HP:0002789)	1.88147108
76	Hypoplastic iliac wings (HP:0002866)	1.88146692
77	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	1.87456483
78	Hypobetalipoproteinemia (HP:0003563)	1.86894420
79	Progressive inability to walk (HP:0002505)	1.85368672
80	Hypochromic anemia (HP:0001931)	1.84937004
81	Breast hypoplasia (HP:0003187)	1.84561576
82	Anencephaly (HP:0002323)	1.84408862
83	Colon cancer (HP:0003003)	1.81771482
84	Abdominal situs inversus (HP:0003363)	1.81647585
85	Abnormality of abdominal situs (HP:0011620)	1.81647585
86	Stenosis of the external auditory canal (HP:0000402)	1.80704156
87	Postaxial hand polydactyly (HP:0001162)	1.80330354
88	Male pseudohermaphroditism (HP:0000037)	1.79600307
89	Short phalanx of the thumb (HP:0009660)	1.78896900
90	Rectovaginal fistula (HP:0000143)	1.75260050
91	Rectal fistula (HP:0100590)	1.75260050
92	Chorioretinal atrophy (HP:0000533)	1.74311543
93	Abnormality of urine glucose concentration (HP:0011016)	1.73278268
94	Glycosuria (HP:0003076)	1.73278268
95	Hyperventilation (HP:0002883)	1.71150154
96	Clumsiness (HP:0002312)	1.65137170
97	Amelogenesis imperfecta (HP:0000705)	1.64738783
98	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.62207327
99	Short tibia (HP:0005736)	1.62135074
100	Broad-based gait (HP:0002136)	1.61997871

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.87862869
2	TLK1	4.58365504
3	ADRBK2	2.64932959
4	MAP4K2	2.58717402
5	FGFR2	2.52090076
6	WNK4	2.39710327
7	WNK3	2.33363999
8	ZAK	2.24473600
9	BMPR1B	2.20599529
10	GRK1	2.09647636
11	PIK3CA	2.09400060
12	NUAK1	2.05536286
13	INSRR	1.91415586
14	DAPK2	1.85887581
15	STK39	1.85865687
16	ACVR1B	1.83987613
17	PAK3	1.78052332
18	MAP3K4	1.74587835
19	TAOK3	1.61052274
20	PINK1	1.59888349
21	CASK	1.59229550
22	TNIK	1.41182749
23	FGFR1	1.28724002
24	SGK2	1.25694955
25	TXK	1.11584112
26	MAPK13	1.10550516
27	OXSR1	1.09140477
28	MAP2K7	1.08964371
29	STK16	1.00376861
30	MKNK2	0.99794752
31	PLK2	0.99085322
32	CSNK1G3	0.98752954
33	RPS6KA5	0.97488570
34	CSNK1G1	0.97371816
35	CSNK1G2	0.96942164
36	VRK1	0.96317080
37	PLK4	0.93205702
38	TRIM28	0.91780517
39	TNK2	0.91521984
40	TEC	0.90957573
41	CSNK1A1L	0.89224667
42	TIE1	0.88695477
43	IKBKB	0.88349812
44	PLK1	0.87818663
45	PTK2B	0.87609041
46	NEK1	0.86538678
47	PRKCE	0.86026955
48	ADRBK1	0.83960181
49	SGK494	0.83889831
50	SGK223	0.83889831
51	BMPR2	0.76495814
52	PHKG2	0.76238498
53	PHKG1	0.76238498
54	CSNK1A1	0.72399926
55	PRKCG	0.68802438
56	MST4	0.68624727
57	CAMK2A	0.67757237
58	BTK	0.64485953
59	PLK3	0.62570052
60	PRKACA	0.62224787
61	ATR	0.61363520
62	DYRK2	0.60673161
63	EIF2AK3	0.57795824
64	BRSK2	0.57591300
65	ERBB3	0.57458509
66	PRKCZ	0.56946409
67	CAMKK2	0.56473605
68	MAP2K2	0.56102718
69	STK3	0.56015800
70	NME1	0.55475230
71	STK11	0.55117720
72	OBSCN	0.55104898
73	GRK7	0.54946041
74	TGFBR1	0.54936671
75	CSNK1D	0.54581736
76	BCR	0.54168119
77	MUSK	0.53350095
78	MAPK15	0.52827592
79	STK38L	0.52414274
80	BCKDK	0.51813684
81	LCK	0.49741181
82	AKT3	0.48416326
83	PIM1	0.47784464
84	PNCK	0.47429244
85	MAP2K6	0.44817073
86	KIT	0.44602654
87	PRKD2	0.44440888
88	MKNK1	0.43401110
89	PKN1	0.42207476
90	RPS6KA6	0.40812508
91	PRKCQ	0.39328927
92	NEK6	0.37847049
93	DYRK1A	0.36484405
94	MARK1	0.36476753
95	PASK	0.35570017
96	ATM	0.35522093
97	PRKCA	0.35287851
98	PRKACB	0.34574495
99	ABL1	0.34335112
100	SGK3	0.34222793

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	5.91330486
2	Linoleic acid metabolism_Homo sapiens_hsa00591	3.60091791
3	Caffeine metabolism_Homo sapiens_hsa00232	3.55778256
4	Phototransduction_Homo sapiens_hsa04744	3.42279853
5	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	3.42130208
6	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.35980444
7	Ether lipid metabolism_Homo sapiens_hsa00565	3.31351235
8	Nitrogen metabolism_Homo sapiens_hsa00910	3.10496518
9	Folate biosynthesis_Homo sapiens_hsa00790	2.94414760
10	One carbon pool by folate_Homo sapiens_hsa00670	2.73665157
11	Sulfur relay system_Homo sapiens_hsa04122	2.30605932
12	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.20039087
13	Vitamin digestion and absorption_Homo sapiens_hsa04977	2.01390291
14	Selenocompound metabolism_Homo sapiens_hsa00450	1.95134280
15	Tryptophan metabolism_Homo sapiens_hsa00380	1.83332035
16	Oxidative phosphorylation_Homo sapiens_hsa00190	1.78625047
17	Protein export_Homo sapiens_hsa03060	1.76735291
18	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.54724609
19	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.50415562
20	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.45459826
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.39987172
22	Nicotine addiction_Homo sapiens_hsa05033	1.25802904
23	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.16605141
24	Butanoate metabolism_Homo sapiens_hsa00650	1.12557885
25	Homologous recombination_Homo sapiens_hsa03440	1.07129048
26	Mineral absorption_Homo sapiens_hsa04978	1.07119082
27	Basal transcription factors_Homo sapiens_hsa03022	1.04257564
28	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.02403373
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.96038888
30	Primary immunodeficiency_Homo sapiens_hsa05340	0.93056036
31	Retinol metabolism_Homo sapiens_hsa00830	0.91424579
32	RNA polymerase_Homo sapiens_hsa03020	0.90802303
33	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.90465602
34	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.87846947
35	Parkinsons disease_Homo sapiens_hsa05012	0.87372163
36	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.83131926
37	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.81965087
38	Fat digestion and absorption_Homo sapiens_hsa04975	0.81934754
39	Taste transduction_Homo sapiens_hsa04742	0.78937574
40	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.78802489
41	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.77729818
42	Type I diabetes mellitus_Homo sapiens_hsa04940	0.76611366
43	Ribosome_Homo sapiens_hsa03010	0.76441980
44	Circadian rhythm_Homo sapiens_hsa04710	0.73576311
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.71631644
46	Chemical carcinogenesis_Homo sapiens_hsa05204	0.67710272
47	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.66619921
48	Cardiac muscle contraction_Homo sapiens_hsa04260	0.66524300
49	RNA degradation_Homo sapiens_hsa03018	0.64776692
50	Morphine addiction_Homo sapiens_hsa05032	0.64170659
51	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.64026618
52	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.63716757
53	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.62805994
54	Peroxisome_Homo sapiens_hsa04146	0.62467366
55	Steroid biosynthesis_Homo sapiens_hsa00100	0.62096116
56	Huntingtons disease_Homo sapiens_hsa05016	0.61386194
57	Non-homologous end-joining_Homo sapiens_hsa03450	0.60427763
58	Insulin secretion_Homo sapiens_hsa04911	0.58662069
59	Olfactory transduction_Homo sapiens_hsa04740	0.58637662
60	Graft-versus-host disease_Homo sapiens_hsa05332	0.57500415
61	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.57314223
62	beta-Alanine metabolism_Homo sapiens_hsa00410	0.56710494
63	Propanoate metabolism_Homo sapiens_hsa00640	0.56481149
64	Serotonergic synapse_Homo sapiens_hsa04726	0.54983119
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.53663886
66	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.52751094
67	Alzheimers disease_Homo sapiens_hsa05010	0.50213284
68	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.47750877
69	Proteasome_Homo sapiens_hsa03050	0.46318401
70	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.46176504
71	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.45164994
72	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.44810872
73	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.44264693
74	Metabolic pathways_Homo sapiens_hsa01100	0.44230585
75	Fanconi anemia pathway_Homo sapiens_hsa03460	0.44208839
76	GABAergic synapse_Homo sapiens_hsa04727	0.43861459
77	Asthma_Homo sapiens_hsa05310	0.43227265
78	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.41946522
79	Regulation of autophagy_Homo sapiens_hsa04140	0.41774771
80	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.40634220
81	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.40579583
82	Allograft rejection_Homo sapiens_hsa05330	0.40249509
83	ABC transporters_Homo sapiens_hsa02010	0.35305485
84	Glutamatergic synapse_Homo sapiens_hsa04724	0.34906358
85	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.30176632
86	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.29981573
87	Fatty acid degradation_Homo sapiens_hsa00071	0.26257661
88	Dopaminergic synapse_Homo sapiens_hsa04728	0.26079071
89	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.25435228
90	Circadian entrainment_Homo sapiens_hsa04713	0.25412596
91	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.25125220
92	Histidine metabolism_Homo sapiens_hsa00340	0.23562454
93	Collecting duct acid secretion_Homo sapiens_hsa04966	0.22130275
94	Purine metabolism_Homo sapiens_hsa00230	0.22069224
95	Calcium signaling pathway_Homo sapiens_hsa04020	0.21213095
96	Sulfur metabolism_Homo sapiens_hsa00920	0.19891321
97	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.16236976
98	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.15257219
99	p53 signaling pathway_Homo sapiens_hsa04115	0.14295786
100	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.13439321

TVP23C

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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