ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.53932571
2	fucose catabolic process (GO:0019317)	4.41608637
3	L-fucose metabolic process (GO:0042354)	4.41608637
4	L-fucose catabolic process (GO:0042355)	4.41608637
5	water-soluble vitamin biosynthetic process (GO:0042364)	4.20533832
6	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.97044381
7	response to pheromone (GO:0019236)	3.93409478
8	DNA deamination (GO:0045006)	3.64203266
9	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.53613634
10	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.53613634
11	NADH dehydrogenase complex assembly (GO:0010257)	3.53613634
12	protein complex biogenesis (GO:0070271)	3.53258759
13	indole-containing compound catabolic process (GO:0042436)	3.43656286
14	indolalkylamine catabolic process (GO:0046218)	3.43656286
15	tryptophan catabolic process (GO:0006569)	3.43656286
16	indolalkylamine metabolic process (GO:0006586)	3.39294232
17	pyrimidine nucleobase catabolic process (GO:0006208)	3.35454807
18	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.29262253
19	neural tube formation (GO:0001841)	3.28231437
20	respiratory chain complex IV assembly (GO:0008535)	3.26922132
21	axoneme assembly (GO:0035082)	3.26570144
22	piRNA metabolic process (GO:0034587)	3.21685483
23	mitochondrial respiratory chain complex assembly (GO:0033108)	3.20450483
24	platelet dense granule organization (GO:0060155)	3.19902091
25	neuronal action potential (GO:0019228)	3.18845028
26	cellular ketone body metabolic process (GO:0046950)	3.15942708
27	negative regulation of telomere maintenance (GO:0032205)	3.11621678
28	nonmotile primary cilium assembly (GO:0035058)	3.09256318
29	kynurenine metabolic process (GO:0070189)	3.08673895
30	auditory receptor cell stereocilium organization (GO:0060088)	3.08038223
31	DNA double-strand break processing (GO:0000729)	3.07552745
32	cornea development in camera-type eye (GO:0061303)	3.06341963
33	reflex (GO:0060004)	3.05744249
34	detection of light stimulus involved in sensory perception (GO:0050962)	3.05018262
35	detection of light stimulus involved in visual perception (GO:0050908)	3.05018262
36	nephron tubule morphogenesis (GO:0072078)	2.99482721
37	nephron epithelium morphogenesis (GO:0072088)	2.99482721
38	dopamine transport (GO:0015872)	2.94431521
39	epithelial cilium movement (GO:0003351)	2.94343904
40	tryptophan metabolic process (GO:0006568)	2.94083240
41	inner ear receptor stereocilium organization (GO:0060122)	2.93649232
42	protein-cofactor linkage (GO:0018065)	2.91157019
43	ketone body metabolic process (GO:1902224)	2.90472998
44	nucleobase catabolic process (GO:0046113)	2.89634943
45	regulation of action potential (GO:0098900)	2.87399465
46	indole-containing compound metabolic process (GO:0042430)	2.82682182
47	ubiquinone biosynthetic process (GO:0006744)	2.82513164
48	cytochrome complex assembly (GO:0017004)	2.81695498
49	cilium morphogenesis (GO:0060271)	2.81452547
50	startle response (GO:0001964)	2.77963140
51	ubiquinone metabolic process (GO:0006743)	2.77238603
52	transmission of nerve impulse (GO:0019226)	2.75742776
53	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.74900041
54	protein polyglutamylation (GO:0018095)	2.73369512
55	cilium movement (GO:0003341)	2.72114567
56	protein localization to cilium (GO:0061512)	2.71788754
57	primary amino compound metabolic process (GO:1901160)	2.70186555
58	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.67787730
59	behavioral response to ethanol (GO:0048149)	2.66799065
60	regulation of hexokinase activity (GO:1903299)	2.66683724
61	regulation of glucokinase activity (GO:0033131)	2.66683724
62	DNA methylation involved in gamete generation (GO:0043046)	2.66215188
63	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.64867948
64	rRNA catabolic process (GO:0016075)	2.63034480
65	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.61721660
66	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.61721660
67	alanine transport (GO:0032328)	2.61179205
68	mannosylation (GO:0097502)	2.60070684
69	serotonin metabolic process (GO:0042428)	2.59756617
70	regulation of cilium movement (GO:0003352)	2.59299503
71	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.58279911
72	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.58049326
73	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.57274180
74	amine catabolic process (GO:0009310)	2.55445348
75	cellular biogenic amine catabolic process (GO:0042402)	2.55445348
76	photoreceptor cell maintenance (GO:0045494)	2.55430367
77	synaptic transmission, cholinergic (GO:0007271)	2.54763900
78	cilium organization (GO:0044782)	2.54220802
79	kidney morphogenesis (GO:0060993)	2.53505454
80	postsynaptic membrane organization (GO:0001941)	2.50697802
81	presynaptic membrane assembly (GO:0097105)	2.49182807
82	photoreceptor cell development (GO:0042461)	2.48809873
83	retinal cone cell development (GO:0046549)	2.48059592
84	rhodopsin mediated signaling pathway (GO:0016056)	2.47977636
85	preassembly of GPI anchor in ER membrane (GO:0016254)	2.47698225
86	dendritic spine morphogenesis (GO:0060997)	2.47129781
87	cilium assembly (GO:0042384)	2.45930817
88	gamma-aminobutyric acid transport (GO:0015812)	2.45789565
89	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.45520921
90	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.44364684
91	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.44091390
92	axonemal dynein complex assembly (GO:0070286)	2.43761122
93	proline transport (GO:0015824)	2.43367618
94	reciprocal DNA recombination (GO:0035825)	2.40320218
95	reciprocal meiotic recombination (GO:0007131)	2.40320218
96	protein neddylation (GO:0045116)	2.39907747
97	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.39306614
98	cAMP catabolic process (GO:0006198)	2.37923139
99	replication fork processing (GO:0031297)	2.37441401
100	embryonic epithelial tube formation (GO:0001838)	2.36634368

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.03761870
2	VDR_22108803_ChIP-Seq_LS180_Human	3.22673706
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.05919712
4	EZH2_22144423_ChIP-Seq_EOC_Human	2.89632905
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.74842651
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.65007242
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.51288586
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.46869164
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.35037062
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.29565037
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.23767027
12	FUS_26573619_Chip-Seq_HEK293_Human	2.19964521
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.13621635
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.11302812
15	P300_19829295_ChIP-Seq_ESCs_Human	2.05798333
16	EWS_26573619_Chip-Seq_HEK293_Human	2.04669167
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.96135048
18	TAF15_26573619_Chip-Seq_HEK293_Human	1.85738058
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.84630226
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79318856
21	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.78041815
22	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.73676755
23	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.72379975
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.70118981
25	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.65230607
26	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.64130145
27	BCAT_22108803_ChIP-Seq_LS180_Human	1.61251617
28	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.60955924
29	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.60952644
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.59170820
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.59003018
32	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.58547291
33	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.55638507
34	* TP53_22573176_ChIP-Seq_HFKS_Human	1.55475948
35	MYC_18940864_ChIP-ChIP_HL60_Human	1.55209475
36	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.54372284
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.51460444
38	IRF1_19129219_ChIP-ChIP_H3396_Human	1.49770163
39	SMAD4_21799915_ChIP-Seq_A2780_Human	1.49481728
40	STAT3_23295773_ChIP-Seq_U87_Human	1.48960171
41	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.48054136
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.44833592
43	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.44833592
44	REST_21632747_ChIP-Seq_MESCs_Mouse	1.43831717
45	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.43469896
46	AR_25329375_ChIP-Seq_VCAP_Human	1.42605525
47	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.41492325
48	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.40689682
49	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.40689682
50	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40111355
51	TCF4_23295773_ChIP-Seq_U87_Human	1.40022609
52	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.38646598
53	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.36821091
54	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.36665026
55	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.36169222
56	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.35300543
57	TCF4_22108803_ChIP-Seq_LS180_Human	1.34112576
58	SOX2_19829295_ChIP-Seq_ESCs_Human	1.32917698
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.32917698
60	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32676485
61	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32160694
62	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.31445662
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.30939431
64	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.30820497
65	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.30055017
66	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.28329793
67	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.28329793
68	RNF2_27304074_Chip-Seq_NSC_Mouse	1.27515052
69	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.27367246
70	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.24249521
71	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.24204291
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.23235920
73	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.20025094
74	NCOR_22424771_ChIP-Seq_293T_Human	1.19721075
75	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.18084543
76	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.17765925
77	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.17608972
78	AR_20517297_ChIP-Seq_VCAP_Human	1.16189835
79	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.14897036
80	HOXB7_26014856_ChIP-Seq_BT474_Human	1.13123492
81	ELK1_19687146_ChIP-ChIP_HELA_Human	1.13016462
82	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12858286
83	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11979070
84	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.09327034
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.06607367
86	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.06397145
87	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05225996
88	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.04095048
89	P53_22387025_ChIP-Seq_ESCs_Mouse	1.03997835
90	AR_21572438_ChIP-Seq_LNCaP_Human	1.03305152
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.00488958
92	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00134556
93	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.00069867
94	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.99847080
95	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.97177200
96	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.96376949
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95251828
98	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.93455608
99	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.93120565
100	CDX2_22108803_ChIP-Seq_LS180_Human	0.92563364

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.10056987
2	MP0003195_calcinosis	2.60495989
3	MP0002102_abnormal_ear_morphology	2.54267462
4	MP0003787_abnormal_imprinting	2.51876824
5	MP0006292_abnormal_olfactory_placode	2.51473219
6	MP0005551_abnormal_eye_electrophysiolog	2.44859497
7	MP0001968_abnormal_touch/_nociception	2.16765141
8	MP0003136_yellow_coat_color	2.15791958
9	MP0000372_irregular_coat_pigmentation	2.09216810
10	MP0003880_abnormal_central_pattern	2.03406769
11	MP0008875_abnormal_xenobiotic_pharmacok	2.00272276
12	MP0004147_increased_porphyrin_level	1.97817141
13	MP0008872_abnormal_physiological_respon	1.97581335
14	MP0002736_abnormal_nociception_after	1.92759679
15	MP0004885_abnormal_endolymph	1.91433392
16	MP0009046_muscle_twitch	1.90719997
17	MP0006276_abnormal_autonomic_nervous	1.90605739
18	MP0002876_abnormal_thyroid_physiology	1.89303518
19	MP0005645_abnormal_hypothalamus_physiol	1.89164412
20	MP0004142_abnormal_muscle_tone	1.88988878
21	MP0002837_dystrophic_cardiac_calcinosis	1.87272289
22	MP0002638_abnormal_pupillary_reflex	1.87127908
23	MP0009745_abnormal_behavioral_response	1.82048416
24	MP0003646_muscle_fatigue	1.80678296
25	MP0006072_abnormal_retinal_apoptosis	1.80108464
26	MP0001986_abnormal_taste_sensitivity	1.79874660
27	MP0000569_abnormal_digit_pigmentation	1.79249004
28	MP0002938_white_spotting	1.75975905
29	MP0000427_abnormal_hair_cycle	1.72064559
30	MP0005253_abnormal_eye_physiology	1.71501319
31	MP0002272_abnormal_nervous_system	1.71393800
32	MP0002163_abnormal_gland_morphology	1.68618172
33	MP0005646_abnormal_pituitary_gland	1.63658738
34	MP0001984_abnormal_olfaction	1.63202950
35	MP0003122_maternal_imprinting	1.63062150
36	MP0002653_abnormal_ependyma_morphology	1.62590074
37	MP0001501_abnormal_sleep_pattern	1.57658701
38	MP0004043_abnormal_pH_regulation	1.55555529
39	MP0001485_abnormal_pinna_reflex	1.52781863
40	MP0001529_abnormal_vocalization	1.50856964
41	MP0001486_abnormal_startle_reflex	1.47417779
42	MP0005379_endocrine/exocrine_gland_phen	1.45059739
43	MP0000631_abnormal_neuroendocrine_gland	1.43138592
44	MP0004133_heterotaxia	1.39238573
45	MP0002572_abnormal_emotion/affect_behav	1.38014467
46	MP0002557_abnormal_social/conspecific_i	1.35446181
47	MP0005084_abnormal_gallbladder_morpholo	1.34276347
48	MP0003011_delayed_dark_adaptation	1.29215175
49	MP0003121_genomic_imprinting	1.29154669
50	MP0001970_abnormal_pain_threshold	1.26144966
51	MP0002733_abnormal_thermal_nociception	1.25958823
52	MP0004742_abnormal_vestibular_system	1.25516482
53	MP0005389_reproductive_system_phenotype	1.20516570
54	MP0002064_seizures	1.19783502
55	MP0005386_behavior/neurological_phenoty	1.18615878
56	MP0004924_abnormal_behavior	1.18615878
57	MP0002928_abnormal_bile_duct	1.18416309
58	MP0002067_abnormal_sensory_capabilities	1.15801883
59	MP0001905_abnormal_dopamine_level	1.14267256
60	MP0004215_abnormal_myocardial_fiber	1.12816902
61	MP0002735_abnormal_chemical_nociception	1.11446063
62	MP0001919_abnormal_reproductive_system	1.10038599
63	MP0005195_abnormal_posterior_eye	1.09195225
64	MP0002160_abnormal_reproductive_system	1.08771216
65	MP0002909_abnormal_adrenal_gland	1.06376108
66	MP0003635_abnormal_synaptic_transmissio	1.06220578
67	MP0005174_abnormal_tail_pigmentation	1.05682426
68	MP0005423_abnormal_somatic_nervous	1.05638028
69	MP0002063_abnormal_learning/memory/cond	1.05557945
70	MP0002751_abnormal_autonomic_nervous	1.04531745
71	MP0000778_abnormal_nervous_system	1.04255277
72	MP0000026_abnormal_inner_ear	1.03909772
73	MP0002095_abnormal_skin_pigmentation	1.02492128
74	MP0004145_abnormal_muscle_electrophysio	1.01187491
75	MP0005377_hearing/vestibular/ear_phenot	1.00676851
76	MP0003878_abnormal_ear_physiology	1.00676851
77	MP0003718_maternal_effect	0.97042113
78	MP0002752_abnormal_somatic_nervous	0.96114635
79	MP0005075_abnormal_melanosome_morpholog	0.95663146
80	MP0003283_abnormal_digestive_organ	0.94564337
81	MP0008775_abnormal_heart_ventricle	0.92506392
82	MP0010386_abnormal_urinary_bladder	0.92151164
83	MP0000647_abnormal_sebaceous_gland	0.90718660
84	MP0001324_abnormal_eye_pigmentation	0.90466012
85	MP0002229_neurodegeneration	0.88991106
86	MP0005410_abnormal_fertilization	0.87146277
87	MP0002734_abnormal_mechanical_nocicepti	0.87010067
88	MP0002277_abnormal_respiratory_mucosa	0.86138044
89	MP0002234_abnormal_pharynx_morphology	0.85956350
90	MP0003698_abnormal_male_reproductive	0.85763251
91	MP0003137_abnormal_impulse_conducting	0.85647933
92	MP0005171_absent_coat_pigmentation	0.85122339
93	MP0002184_abnormal_innervation	0.84729754
94	MP0000230_abnormal_systemic_arterial	0.80476590
95	MP0001963_abnormal_hearing_physiology	0.79771447
96	MP0008058_abnormal_DNA_repair	0.78410579
97	MP0001440_abnormal_grooming_behavior	0.75813553
98	MP0008995_early_reproductive_senescence	0.75716806
99	MP0001929_abnormal_gametogenesis	0.75177039
100	MP0002210_abnormal_sex_determination	0.74688670

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.35794705
2	Abnormality of midbrain morphology (HP:0002418)	4.12932239
3	Molar tooth sign on MRI (HP:0002419)	4.12932239
4	Congenital stationary night blindness (HP:0007642)	3.98930041
5	True hermaphroditism (HP:0010459)	3.94436745
6	Pancreatic fibrosis (HP:0100732)	3.93900572
7	Nephronophthisis (HP:0000090)	3.72675737
8	Abnormality of the renal cortex (HP:0011035)	3.28411167
9	Abnormality of the renal medulla (HP:0100957)	3.18601980
10	Medial flaring of the eyebrow (HP:0010747)	3.18175262
11	Type II lissencephaly (HP:0007260)	3.06980210
12	Hyperventilation (HP:0002883)	2.97889675
13	Attenuation of retinal blood vessels (HP:0007843)	2.79005547
14	Acute necrotizing encephalopathy (HP:0006965)	2.74576946
15	Tubular atrophy (HP:0000092)	2.69563324
16	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.59843885
17	Abnormality of alanine metabolism (HP:0010916)	2.59843885
18	Hyperalaninemia (HP:0003348)	2.59843885
19	Chronic hepatic failure (HP:0100626)	2.58266314
20	Cystic liver disease (HP:0006706)	2.56012894
21	Progressive macrocephaly (HP:0004481)	2.53347815
22	Gait imbalance (HP:0002141)	2.53097909
23	Abnormal rod and cone electroretinograms (HP:0008323)	2.51660453
24	Acute encephalopathy (HP:0006846)	2.49529522
25	Inability to walk (HP:0002540)	2.48004781
26	Abnormal drinking behavior (HP:0030082)	2.47015692
27	Polydipsia (HP:0001959)	2.47015692
28	Pendular nystagmus (HP:0012043)	2.44872054
29	Lissencephaly (HP:0001339)	2.43711762
30	Decreased central vision (HP:0007663)	2.42286408
31	Progressive inability to walk (HP:0002505)	2.41679250
32	Renal cortical cysts (HP:0000803)	2.39441379
33	Congenital primary aphakia (HP:0007707)	2.38014842
34	Mitochondrial inheritance (HP:0001427)	2.34304758
35	Large for gestational age (HP:0001520)	2.32077160
36	Sclerocornea (HP:0000647)	2.31306000
37	3-Methylglutaconic aciduria (HP:0003535)	2.30591644
38	Abolished electroretinogram (ERG) (HP:0000550)	2.30064680
39	Nephrogenic diabetes insipidus (HP:0009806)	2.28218543
40	Increased CSF lactate (HP:0002490)	2.27606058
41	Abnormality of the pons (HP:0007361)	2.25530621
42	Abnormal mitochondria in muscle tissue (HP:0008316)	2.25048223
43	Hypothermia (HP:0002045)	2.24017554
44	Keratoconus (HP:0000563)	2.23053048
45	Increased corneal curvature (HP:0100692)	2.23053048
46	Abnormal ciliary motility (HP:0012262)	2.22741917
47	Abnormality of the labia minora (HP:0012880)	2.21648852
48	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.21390496
49	Optic disc pallor (HP:0000543)	2.20693946
50	Hypoplasia of the pons (HP:0012110)	2.18589235
51	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.18510349
52	Gaze-evoked nystagmus (HP:0000640)	2.16799183
53	Congenital sensorineural hearing impairment (HP:0008527)	2.14059794
54	Furrowed tongue (HP:0000221)	2.13771688
55	Congenital, generalized hypertrichosis (HP:0004540)	2.13089302
56	Male pseudohermaphroditism (HP:0000037)	2.10526682
57	Anencephaly (HP:0002323)	2.09939749
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.09331387
59	Absent/shortened dynein arms (HP:0200106)	2.09331387
60	Methylmalonic acidemia (HP:0002912)	2.08625898
61	Abnormal respiratory motile cilium physiology (HP:0012261)	2.05405762
62	Optic nerve hypoplasia (HP:0000609)	2.04964013
63	Abnormal respiratory motile cilium morphology (HP:0005938)	2.04186939
64	Abnormal respiratory epithelium morphology (HP:0012253)	2.04186939
65	Broad-based gait (HP:0002136)	2.01184403
66	Pachygyria (HP:0001302)	2.00711759
67	Polyuria (HP:0000103)	2.00054679
68	Congenital hepatic fibrosis (HP:0002612)	2.00010939
69	Febrile seizures (HP:0002373)	1.98978996
70	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.98166164
71	Concave nail (HP:0001598)	1.97537408
72	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.96995101
73	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.96399699
74	Cerebellar dysplasia (HP:0007033)	1.93729154
75	Genital tract atresia (HP:0001827)	1.92656414
76	Postaxial foot polydactyly (HP:0001830)	1.91269416
77	Methylmalonic aciduria (HP:0012120)	1.90912871
78	Progressive cerebellar ataxia (HP:0002073)	1.89656294
79	Abnormal biliary tract physiology (HP:0012439)	1.85726062
80	Bile duct proliferation (HP:0001408)	1.85726062
81	Stomach cancer (HP:0012126)	1.85627799
82	Hypomagnesemia (HP:0002917)	1.84807576
83	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.84732520
84	Hypoplasia of the fovea (HP:0007750)	1.84732520
85	Hemiparesis (HP:0001269)	1.82940841
86	Bony spicule pigmentary retinopathy (HP:0007737)	1.82208671
87	Vaginal atresia (HP:0000148)	1.82107608
88	Agitation (HP:0000713)	1.81769658
89	Aplasia/hypoplasia of the uterus (HP:0008684)	1.81652364
90	Genetic anticipation (HP:0003743)	1.80759320
91	Hepatic necrosis (HP:0002605)	1.78584988
92	Lipid accumulation in hepatocytes (HP:0006561)	1.77933545
93	Oligodactyly (hands) (HP:0001180)	1.77866635
94	Postaxial hand polydactyly (HP:0001162)	1.77011894
95	Hepatocellular necrosis (HP:0001404)	1.75418231
96	Ketoacidosis (HP:0001993)	1.74488306
97	Absent speech (HP:0001344)	1.73369923
98	Poor coordination (HP:0002370)	1.72999516
99	Severe muscular hypotonia (HP:0006829)	1.71617324
100	Patellar aplasia (HP:0006443)	1.70548748

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.06570849
2	MAP4K2	3.08747488
3	ADRBK2	2.80015258
4	BMPR1B	2.79329903
5	TNIK	2.49899247
6	CASK	2.44192847
7	ZAK	2.44126616
8	PINK1	2.25657574
9	WNK4	2.22736403
10	NUAK1	2.21660828
11	GRK1	2.16341646
12	WNK3	2.12898620
13	TAOK3	2.11628001
14	INSRR	2.10234846
15	MAPK13	2.08712321
16	ACVR1B	1.99101600
17	MARK1	1.82358394
18	STK39	1.81070239
19	TLK1	1.79433162
20	TRIM28	1.75609800
21	OXSR1	1.64222565
22	MAP3K4	1.48845714
23	PNCK	1.43361555
24	PAK3	1.33423281
25	CAMKK2	1.33220537
26	TXK	1.32007607
27	DYRK2	1.22659339
28	NTRK3	1.21828754
29	DAPK2	1.15469127
30	BCR	1.15143527
31	MKNK2	1.09355088
32	MAP2K7	1.08075910
33	NTRK2	1.05843041
34	PHKG1	1.04673868
35	PHKG2	1.04673868
36	PRKCG	1.00145369
37	TSSK6	0.97287773
38	CSNK1G2	0.95146650
39	PLK2	0.90558560
40	ADRBK1	0.90461075
41	PRKCE	0.89366153
42	MAPK15	0.88769810
43	VRK1	0.85804067
44	MST4	0.85437784
45	FGFR2	0.84632471
46	TGFBR1	0.82683264
47	BCKDK	0.81812540
48	MAPKAPK3	0.81723185
49	TIE1	0.79457589
50	PIK3CA	0.76589607
51	BRSK2	0.75223830
52	CSNK1G3	0.74425711
53	MAPKAPK5	0.73519728
54	PLK3	0.72818048
55	EIF2AK3	0.72679512
56	CSNK1G1	0.72405996
57	EPHA4	0.69228854
58	SIK2	0.67003421
59	NLK	0.63837003
60	STK38L	0.63412291
61	MUSK	0.62916607
62	PRKCQ	0.61389340
63	TAF1	0.60811630
64	MKNK1	0.58231312
65	PTK2B	0.57998586
66	IKBKB	0.57603717
67	PDK2	0.57272481
68	CSNK1A1L	0.55777037
69	MAP2K6	0.55289564
70	PLK4	0.54969637
71	ERBB3	0.51686276
72	CAMK2A	0.51521337
73	PKN1	0.49349950
74	PRKACA	0.47375355
75	PRKCI	0.45419797
76	RPS6KA5	0.45096412
77	STK11	0.44292887
78	CSNK1A1	0.42494523
79	MINK1	0.41683219
80	FER	0.41180752
81	WEE1	0.41130519
82	MARK3	0.41049891
83	DYRK3	0.39316117
84	CAMK1	0.39156496
85	IRAK1	0.37154138
86	TEC	0.37136392
87	NME1	0.35645505
88	TNK2	0.35417730
89	KIT	0.35394392
90	VRK2	0.35231329
91	MAP3K12	0.35090728
92	STK3	0.33607570
93	PRKCA	0.33300752
94	CSNK1D	0.31913692
95	PRKG1	0.31742378
96	NEK1	0.31659852
97	PRKACB	0.29647599
98	PRKCZ	0.29103630
99	NEK2	0.28546233
100	PLK1	0.28376416

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.94981970
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.66128352
3	Butanoate metabolism_Homo sapiens_hsa00650	2.64153736
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.56586272
5	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.55014932
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.46443445
7	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.32887764
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.28292580
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.16622107
10	Nicotine addiction_Homo sapiens_hsa05033	2.16511291
11	Protein export_Homo sapiens_hsa03060	2.11956255
12	Nitrogen metabolism_Homo sapiens_hsa00910	2.10162665
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.06821880
14	Selenocompound metabolism_Homo sapiens_hsa00450	1.96219312
15	Parkinsons disease_Homo sapiens_hsa05012	1.93695564
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.92155708
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.91469744
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.88101830
19	Ether lipid metabolism_Homo sapiens_hsa00565	1.73913286
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.67476342
21	Basal transcription factors_Homo sapiens_hsa03022	1.66545740
22	Homologous recombination_Homo sapiens_hsa03440	1.66481893
23	Caffeine metabolism_Homo sapiens_hsa00232	1.63300396
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.58388159
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.49386931
26	Propanoate metabolism_Homo sapiens_hsa00640	1.47803827
27	RNA polymerase_Homo sapiens_hsa03020	1.46566551
28	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.38748917
29	Taste transduction_Homo sapiens_hsa04742	1.37832077
30	Olfactory transduction_Homo sapiens_hsa04740	1.32337677
31	Morphine addiction_Homo sapiens_hsa05032	1.27495967
32	Peroxisome_Homo sapiens_hsa04146	1.27343651
33	Huntingtons disease_Homo sapiens_hsa05016	1.26639566
34	Cardiac muscle contraction_Homo sapiens_hsa04260	1.23558651
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.21879790
36	Alzheimers disease_Homo sapiens_hsa05010	1.18804132
37	RNA degradation_Homo sapiens_hsa03018	1.16977535
38	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.15411843
39	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.09927550
40	Proteasome_Homo sapiens_hsa03050	1.09709854
41	Steroid biosynthesis_Homo sapiens_hsa00100	1.08993002
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.08657736
43	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.08249518
44	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.05353999
45	Retinol metabolism_Homo sapiens_hsa00830	1.04949675
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.04646537
47	Collecting duct acid secretion_Homo sapiens_hsa04966	1.03088170
48	GABAergic synapse_Homo sapiens_hsa04727	0.99527267
49	ABC transporters_Homo sapiens_hsa02010	0.96859572
50	Serotonergic synapse_Homo sapiens_hsa04726	0.96853356
51	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.94447071
52	Insulin secretion_Homo sapiens_hsa04911	0.94308975
53	beta-Alanine metabolism_Homo sapiens_hsa00410	0.92582492
54	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.87628034
55	Regulation of autophagy_Homo sapiens_hsa04140	0.87568645
56	Circadian entrainment_Homo sapiens_hsa04713	0.87218825
57	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.86975458
58	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.84433802
59	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.84109643
60	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.83859495
61	Glutamatergic synapse_Homo sapiens_hsa04724	0.82351837
62	One carbon pool by folate_Homo sapiens_hsa00670	0.80895436
63	Sulfur metabolism_Homo sapiens_hsa00920	0.76864837
64	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.75825910
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.74474000
66	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.72777781
67	Purine metabolism_Homo sapiens_hsa00230	0.71398087
68	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.71240147
69	Salivary secretion_Homo sapiens_hsa04970	0.68596685
70	Metabolic pathways_Homo sapiens_hsa01100	0.66453685
71	Non-homologous end-joining_Homo sapiens_hsa03450	0.64499504
72	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60839712
73	Fat digestion and absorption_Homo sapiens_hsa04975	0.60726812
74	Calcium signaling pathway_Homo sapiens_hsa04020	0.59275321
75	Histidine metabolism_Homo sapiens_hsa00340	0.59067832
76	Dopaminergic synapse_Homo sapiens_hsa04728	0.55814721
77	Primary immunodeficiency_Homo sapiens_hsa05340	0.55530313
78	Cocaine addiction_Homo sapiens_hsa05030	0.49569148
79	Circadian rhythm_Homo sapiens_hsa04710	0.49358692
80	Type I diabetes mellitus_Homo sapiens_hsa04940	0.49287777
81	Sulfur relay system_Homo sapiens_hsa04122	0.47887783
82	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.46754537
83	Asthma_Homo sapiens_hsa05310	0.46084806
84	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.43501235
85	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.42794630
86	Mineral absorption_Homo sapiens_hsa04978	0.42225493
87	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.41748537
88	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.41574750
89	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.40467816
90	Pyrimidine metabolism_Homo sapiens_hsa00240	0.37318064
91	Amphetamine addiction_Homo sapiens_hsa05031	0.36552365
92	Fatty acid degradation_Homo sapiens_hsa00071	0.35196015
93	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.34852357
94	Long-term depression_Homo sapiens_hsa04730	0.34310558
95	Arginine and proline metabolism_Homo sapiens_hsa00330	0.32027999
96	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.31699652
97	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.30555273
98	Ribosome_Homo sapiens_hsa03010	0.29129298
99	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.28982947
100	cAMP signaling pathway_Homo sapiens_hsa04024	0.26851723

TMPRSS11BNL

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)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »