ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.91661907
2	water-soluble vitamin biosynthetic process (GO:0042364)	4.15306570
3	response to pheromone (GO:0019236)	4.07928173
4	L-fucose catabolic process (GO:0042355)	4.03818432
5	fucose catabolic process (GO:0019317)	4.03818432
6	L-fucose metabolic process (GO:0042354)	4.03818432
7	DNA deamination (GO:0045006)	3.97962047
8	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.75019185
9	indolalkylamine metabolic process (GO:0006586)	3.67955946
10	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	3.60900086
11	adult feeding behavior (GO:0008343)	3.45976288
12	protein complex biogenesis (GO:0070271)	3.39732243
13	respiratory chain complex IV assembly (GO:0008535)	3.33085794
14	ubiquinone biosynthetic process (GO:0006744)	3.31916345
15	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.28445904
16	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.28445904
17	NADH dehydrogenase complex assembly (GO:0010257)	3.28445904
18	regulation of cilium movement (GO:0003352)	3.27870341
19	platelet dense granule organization (GO:0060155)	3.26274578
20	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.23831334
21	negative regulation of interleukin-1 beta production (GO:0032691)	3.21936775
22	piRNA metabolic process (GO:0034587)	3.18092662
23	multicellular organism reproduction (GO:0032504)	3.17019929
24	mitochondrial respiratory chain complex assembly (GO:0033108)	3.13133993
25	negative regulation of telomere maintenance (GO:0032205)	3.12237334
26	positive regulation of sodium ion transmembrane transport (GO:1902307)	3.11132040
27	kynurenine metabolic process (GO:0070189)	3.08676017
28	neuron fate determination (GO:0048664)	3.08256858
29	indole-containing compound catabolic process (GO:0042436)	3.04924165
30	indolalkylamine catabolic process (GO:0046218)	3.04924165
31	tryptophan catabolic process (GO:0006569)	3.04924165
32	tryptophan metabolic process (GO:0006568)	3.04882217
33	neuronal action potential (GO:0019228)	3.04652245
34	ubiquinone metabolic process (GO:0006743)	3.01600431
35	cornea development in camera-type eye (GO:0061303)	3.00529474
36	negative regulation of interleukin-1 production (GO:0032692)	2.99486844
37	cytochrome complex assembly (GO:0017004)	2.97242679
38	cellular ketone body metabolic process (GO:0046950)	2.97143883
39	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.96373179
40	nonmotile primary cilium assembly (GO:0035058)	2.95790379
41	ATP synthesis coupled proton transport (GO:0015986)	2.95386450
42	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.95386450
43	nephron tubule morphogenesis (GO:0072078)	2.95327894
44	nephron epithelium morphogenesis (GO:0072088)	2.95327894
45	epithelial cilium movement (GO:0003351)	2.93046467
46	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.92692143
47	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.92692143
48	auditory receptor cell stereocilium organization (GO:0060088)	2.91952691
49	reflex (GO:0060004)	2.88229570
50	indole-containing compound metabolic process (GO:0042430)	2.88178276
51	detection of light stimulus involved in visual perception (GO:0050908)	2.86623673
52	detection of light stimulus involved in sensory perception (GO:0050962)	2.86623673
53	protein-cofactor linkage (GO:0018065)	2.83772683
54	axoneme assembly (GO:0035082)	2.80326427
55	preassembly of GPI anchor in ER membrane (GO:0016254)	2.78937206
56	rRNA catabolic process (GO:0016075)	2.78378958
57	adaptation of signaling pathway (GO:0023058)	2.76202683
58	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.71682696
59	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.71575472
60	hindbrain development (GO:0030902)	2.70735025
61	glycerophospholipid catabolic process (GO:0046475)	2.70510647
62	rhodopsin mediated signaling pathway (GO:0016056)	2.69708303
63	sulfation (GO:0051923)	2.69047624
64	ketone body metabolic process (GO:1902224)	2.68653283
65	protein import into peroxisome matrix (GO:0016558)	2.67996166
66	quinone biosynthetic process (GO:1901663)	2.67164020
67	cilium organization (GO:0044782)	2.67122832
68	mannosylation (GO:0097502)	2.67091938
69	proline transport (GO:0015824)	2.66519348
70	protein K11-linked deubiquitination (GO:0035871)	2.65931993
71	negative regulation of mast cell activation (GO:0033004)	2.64617330
72	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.63815541
73	synaptic transmission, cholinergic (GO:0007271)	2.62906437
74	intracellular protein transmembrane import (GO:0044743)	2.61228517
75	cellular response to ATP (GO:0071318)	2.61052513
76	regulation of microtubule-based movement (GO:0060632)	2.59806025
77	positive regulation of fatty acid transport (GO:2000193)	2.59544213
78	inner ear receptor stereocilium organization (GO:0060122)	2.59122905
79	neural tube formation (GO:0001841)	2.56553837
80	retinal cone cell development (GO:0046549)	2.56337682
81	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.55896815
82	cilium movement (GO:0003341)	2.55753568
83	behavioral response to ethanol (GO:0048149)	2.54519122
84	cilium assembly (GO:0042384)	2.54393623
85	kidney morphogenesis (GO:0060993)	2.54011235
86	gamma-aminobutyric acid transport (GO:0015812)	2.52514352
87	somite rostral/caudal axis specification (GO:0032525)	2.52442961
88	regulation of neurotransmitter uptake (GO:0051580)	2.52089607
89	exogenous drug catabolic process (GO:0042738)	2.51252228
90	DNA methylation involved in gamete generation (GO:0043046)	2.50335957
91	regulation of action potential (GO:0098900)	2.49848337
92	polyol catabolic process (GO:0046174)	2.47431463
93	dopamine transport (GO:0015872)	2.47428189
94	male meiosis (GO:0007140)	2.46906887
95	cilium morphogenesis (GO:0060271)	2.45689158
96	protein polyglutamylation (GO:0018095)	2.45520460
97	negative regulation of T cell differentiation in thymus (GO:0033085)	2.45487864
98	sperm motility (GO:0030317)	2.44338572
99	S-adenosylmethionine metabolic process (GO:0046500)	2.44335783
100	electron transport chain (GO:0022900)	2.40982584

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.14296009
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.55840453
3	VDR_22108803_ChIP-Seq_LS180_Human	3.37704057
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.80574600
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.52265774
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.31012135
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.25858041
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.25714410
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.20870398
10	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.12194604
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.00687033
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.98465268
13	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.97672807
14	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.85748736
15	P300_19829295_ChIP-Seq_ESCs_Human	1.85701406
16	EWS_26573619_Chip-Seq_HEK293_Human	1.80617332
17	FUS_26573619_Chip-Seq_HEK293_Human	1.79227579
18	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.77909915
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.77759962
20	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.76281594
21	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.68410860
22	TP53_22573176_ChIP-Seq_HFKS_Human	1.67635991
23	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.67220372
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.65805725
25	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.60351227
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.58615078
27	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.56973231
28	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.55524476
29	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.53806515
30	BCAT_22108803_ChIP-Seq_LS180_Human	1.52108007
31	TAF15_26573619_Chip-Seq_HEK293_Human	1.52064791
32	MYC_18940864_ChIP-ChIP_HL60_Human	1.51880130
33	AR_21572438_ChIP-Seq_LNCaP_Human	1.51872837
34	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.51014872
35	IRF1_19129219_ChIP-ChIP_H3396_Human	1.50750035
36	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.50401313
37	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.50221671
38	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.50098778
39	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.47433384
40	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.47232369
41	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.46233521
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.46233521
43	REST_21632747_ChIP-Seq_MESCs_Mouse	1.46153524
44	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.39342031
45	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39142427
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39142427
47	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.38025463
48	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.37662795
49	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.30353616
50	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.30021105
51	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.29074496
52	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.29042179
53	AR_25329375_ChIP-Seq_VCAP_Human	1.28916047
54	STAT3_23295773_ChIP-Seq_U87_Human	1.24331544
55	TCF4_23295773_ChIP-Seq_U87_Human	1.22810403
56	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.21623743
57	TCF4_22108803_ChIP-Seq_LS180_Human	1.21528191
58	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.20381766
59	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20381766
60	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.19077357
61	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.18938968
62	CBP_20019798_ChIP-Seq_JUKART_Human	1.18938968
63	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.18334590
64	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.17383109
65	NCOR_22424771_ChIP-Seq_293T_Human	1.16875793
66	MYC_19829295_ChIP-Seq_ESCs_Human	1.16778708
67	RNF2_27304074_Chip-Seq_NSC_Mouse	1.15984824
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.14440722
69	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.14189493
70	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.14177351
71	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14017265
72	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.13126162
73	ELK1_19687146_ChIP-ChIP_HELA_Human	1.12828022
74	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.12661252
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12184668
76	HOXB7_26014856_ChIP-Seq_BT474_Human	1.11394735
77	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.10471858
78	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.10286491
79	TAF2_19829295_ChIP-Seq_ESCs_Human	1.10208757
80	AR_20517297_ChIP-Seq_VCAP_Human	1.10194196
81	VDR_23849224_ChIP-Seq_CD4+_Human	1.10183887
82	RUNX2_22187159_ChIP-Seq_PCA_Human	1.09943219
83	SMAD4_21799915_ChIP-Seq_A2780_Human	1.09899446
84	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.08880226
85	ERA_21632823_ChIP-Seq_H3396_Human	1.08861847
86	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.08701445
87	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.08453108
88	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.07890721
89	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.06593451
90	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.06277281
91	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.04495207
92	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04470841
93	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.03582335
94	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.01612873
95	NANOG_20526341_ChIP-Seq_ESCs_Human	1.00676998
96	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.00575683
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00467354
98	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.99771950
99	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.99626442
100	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.99350070

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	2.81296374
2	MP0002102_abnormal_ear_morphology	2.69183922
3	MP0008877_abnormal_DNA_methylation	2.68994551
4	MP0002837_dystrophic_cardiac_calcinosis	2.56692134
5	MP0001986_abnormal_taste_sensitivity	2.52652931
6	MP0008872_abnormal_physiological_respon	2.49244109
7	MP0005551_abnormal_eye_electrophysiolog	2.43227654
8	MP0003195_calcinosis	2.35557525
9	MP0001968_abnormal_touch/_nociception	2.33402155
10	MP0003136_yellow_coat_color	2.32682119
11	MP0002638_abnormal_pupillary_reflex	2.32226380
12	MP0006072_abnormal_retinal_apoptosis	2.23496741
13	MP0005645_abnormal_hypothalamus_physiol	2.13193001
14	MP0006292_abnormal_olfactory_placode	2.12796552
15	MP0008875_abnormal_xenobiotic_pharmacok	2.11200057
16	MP0002736_abnormal_nociception_after	2.03870371
17	MP0002876_abnormal_thyroid_physiology	2.02201084
18	MP0003011_delayed_dark_adaptation	1.95163213
19	MP0001984_abnormal_olfaction	1.88682676
20	MP0005253_abnormal_eye_physiology	1.81035202
21	MP0009745_abnormal_behavioral_response	1.76718113
22	MP0003646_muscle_fatigue	1.76087591
23	MP0009046_muscle_twitch	1.75666868
24	MP0001501_abnormal_sleep_pattern	1.75266280
25	MP0000372_irregular_coat_pigmentation	1.70130946
26	MP0004142_abnormal_muscle_tone	1.69871114
27	MP0000569_abnormal_digit_pigmentation	1.67779350
28	MP0002272_abnormal_nervous_system	1.66655053
29	MP0003787_abnormal_imprinting	1.65596377
30	MP0004133_heterotaxia	1.65042784
31	MP0001529_abnormal_vocalization	1.61559731
32	MP0005084_abnormal_gallbladder_morpholo	1.61518726
33	MP0004147_increased_porphyrin_level	1.56169410
34	MP0003880_abnormal_central_pattern	1.50062142
35	MP0004885_abnormal_endolymph	1.47687375
36	MP0005646_abnormal_pituitary_gland	1.44871486
37	MP0005499_abnormal_olfactory_system	1.44279209
38	MP0005394_taste/olfaction_phenotype	1.44279209
39	MP0001919_abnormal_reproductive_system	1.43381627
40	MP0005389_reproductive_system_phenotype	1.42280167
41	MP0002938_white_spotting	1.40734018
42	MP0008789_abnormal_olfactory_epithelium	1.38059948
43	MP0000631_abnormal_neuroendocrine_gland	1.37998932
44	MP0004742_abnormal_vestibular_system	1.32053997
45	MP0002160_abnormal_reproductive_system	1.31771754
46	MP0001486_abnormal_startle_reflex	1.31054255
47	MP0002163_abnormal_gland_morphology	1.23674816
48	MP0002735_abnormal_chemical_nociception	1.23112411
49	MP0002928_abnormal_bile_duct	1.22755835
50	MP0002572_abnormal_emotion/affect_behav	1.21870367
51	MP0002557_abnormal_social/conspecific_i	1.20221454
52	MP0001905_abnormal_dopamine_level	1.20139887
53	MP0000427_abnormal_hair_cycle	1.20127391
54	MP0003283_abnormal_digestive_organ	1.19424956
55	MP0002064_seizures	1.17685852
56	MP0006276_abnormal_autonomic_nervous	1.15703979
57	MP0005379_endocrine/exocrine_gland_phen	1.13908689
58	MP0004145_abnormal_muscle_electrophysio	1.13040485
59	MP0004924_abnormal_behavior	1.12981631
60	MP0005386_behavior/neurological_phenoty	1.12981631
61	MP0005174_abnormal_tail_pigmentation	1.12802945
62	MP0004043_abnormal_pH_regulation	1.11316573
63	MP0002234_abnormal_pharynx_morphology	1.10616994
64	MP0001485_abnormal_pinna_reflex	1.10293505
65	MP0001970_abnormal_pain_threshold	1.09544009
66	MP0002733_abnormal_thermal_nociception	1.09067056
67	MP0002693_abnormal_pancreas_physiology	1.08137788
68	MP0002277_abnormal_respiratory_mucosa	1.07078543
69	MP0005410_abnormal_fertilization	1.04675726
70	MP0002067_abnormal_sensory_capabilities	1.04163201
71	MP0002063_abnormal_learning/memory/cond	1.00608414
72	MP0005195_abnormal_posterior_eye	1.00575227
73	MP0003119_abnormal_digestive_system	0.98264966
74	MP0010386_abnormal_urinary_bladder	0.98122113
75	MP0000538_abnormal_urinary_bladder	0.97661426
76	MP0005167_abnormal_blood-brain_barrier	0.96468141
77	MP0000026_abnormal_inner_ear	0.93655650
78	MP0001502_abnormal_circadian_rhythm	0.91386421
79	MP0003718_maternal_effect	0.91256615
80	MP0001440_abnormal_grooming_behavior	0.89653879
81	MP0002734_abnormal_mechanical_nocicepti	0.88158729
82	MP0002909_abnormal_adrenal_gland	0.88114955
83	MP0008995_early_reproductive_senescence	0.87812350
84	MP0001944_abnormal_pancreas_morphology	0.86724664
85	MP0002752_abnormal_somatic_nervous	0.85894549
86	MP0005075_abnormal_melanosome_morpholog	0.85758254
87	MP0000383_abnormal_hair_follicle	0.85033495
88	MP0001324_abnormal_eye_pigmentation	0.84092609
89	MP0002229_neurodegeneration	0.82698511
90	MP0001293_anophthalmia	0.81980353
91	MP0003635_abnormal_synaptic_transmissio	0.81954169
92	MP0002095_abnormal_skin_pigmentation	0.81443904
93	MP0005220_abnormal_exocrine_pancreas	0.81132198
94	MP0005360_urolithiasis	0.80619460
95	MP0003137_abnormal_impulse_conducting	0.77394148
96	MP0005332_abnormal_amino_acid	0.76119675
97	MP0002751_abnormal_autonomic_nervous	0.75945076
98	MP0003698_abnormal_male_reproductive	0.75798433
99	MP0003638_abnormal_response/metabolism_	0.75238424
100	MP0005377_hearing/vestibular/ear_phenot	0.74995664

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type II lissencephaly (HP:0007260)	4.57433972
2	Pancreatic cysts (HP:0001737)	4.22605439
3	Congenital stationary night blindness (HP:0007642)	4.19281456
4	Molar tooth sign on MRI (HP:0002419)	4.17841872
5	Abnormality of midbrain morphology (HP:0002418)	4.17841872
6	Pancreatic fibrosis (HP:0100732)	4.15876837
7	True hermaphroditism (HP:0010459)	3.86824872
8	Nephronophthisis (HP:0000090)	3.80552451
9	Cerebellar dysplasia (HP:0007033)	3.11784182
10	Medial flaring of the eyebrow (HP:0010747)	3.09513249
11	Abnormality of the renal medulla (HP:0100957)	3.05122652
12	Abnormality of the renal cortex (HP:0011035)	2.94732963
13	Hyperventilation (HP:0002883)	2.87091848
14	Attenuation of retinal blood vessels (HP:0007843)	2.84167455
15	Chronic hepatic failure (HP:0100626)	2.74805931
16	Lissencephaly (HP:0001339)	2.73320755
17	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.71739285
18	Abnormality of alanine metabolism (HP:0010916)	2.71739285
19	Hyperalaninemia (HP:0003348)	2.71739285
20	Tubular atrophy (HP:0000092)	2.70653741
21	Abolished electroretinogram (ERG) (HP:0000550)	2.69998841
22	Inability to walk (HP:0002540)	2.67253533
23	Absent/shortened dynein arms (HP:0200106)	2.64382184
24	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.64382184
25	Abnormal rod and cone electroretinograms (HP:0008323)	2.57238796
26	Cystic liver disease (HP:0006706)	2.56102534
27	Retinal dysplasia (HP:0007973)	2.53448069
28	Large for gestational age (HP:0001520)	2.52436327
29	Pendular nystagmus (HP:0012043)	2.51889274
30	Acute necrotizing encephalopathy (HP:0006965)	2.45542211
31	Progressive inability to walk (HP:0002505)	2.45481575
32	Renal cortical cysts (HP:0000803)	2.43446064
33	Gait imbalance (HP:0002141)	2.37994564
34	Mesangial abnormality (HP:0001966)	2.37065375
35	Concave nail (HP:0001598)	2.36971018
36	Mitochondrial inheritance (HP:0001427)	2.36699155
37	Sclerocornea (HP:0000647)	2.35574864
38	Keratoconus (HP:0000563)	2.35175914
39	Increased corneal curvature (HP:0100692)	2.35175914
40	Congenital, generalized hypertrichosis (HP:0004540)	2.32878224
41	Abnormal drinking behavior (HP:0030082)	2.31108172
42	Polydipsia (HP:0001959)	2.31108172
43	Abnormality of the pons (HP:0007361)	2.30879394
44	Congenital primary aphakia (HP:0007707)	2.30176201
45	Increased CSF lactate (HP:0002490)	2.29804905
46	3-Methylglutaconic aciduria (HP:0003535)	2.28516196
47	Optic nerve hypoplasia (HP:0000609)	2.25104279
48	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.23640082
49	Acute encephalopathy (HP:0006846)	2.23504562
50	Nephrogenic diabetes insipidus (HP:0009806)	2.22914546
51	Hypoplasia of the pons (HP:0012110)	2.21984549
52	Abnormal biliary tract physiology (HP:0012439)	2.19778008
53	Bile duct proliferation (HP:0001408)	2.19778008
54	Severe muscular hypotonia (HP:0006829)	2.19595890
55	Methylmalonic acidemia (HP:0002912)	2.18563269
56	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.18373259
57	Male pseudohermaphroditism (HP:0000037)	2.18128294
58	Abnormal respiratory epithelium morphology (HP:0012253)	2.17260781
59	Abnormal respiratory motile cilium morphology (HP:0005938)	2.17260781
60	Optic disc pallor (HP:0000543)	2.16617554
61	Decreased central vision (HP:0007663)	2.15060254
62	Bony spicule pigmentary retinopathy (HP:0007737)	2.14774828
63	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.13427966
64	Progressive macrocephaly (HP:0004481)	2.11906724
65	Furrowed tongue (HP:0000221)	2.10895947
66	Lipid accumulation in hepatocytes (HP:0006561)	2.09850342
67	Pachygyria (HP:0001302)	2.09032199
68	Anencephaly (HP:0002323)	2.08738347
69	Disproportionate short-trunk short stature (HP:0003521)	2.03784454
70	Birth length less than 3rd percentile (HP:0003561)	2.03745587
71	Rib fusion (HP:0000902)	2.03572756
72	Abnormal ciliary motility (HP:0012262)	2.01301106
73	Chorioretinal atrophy (HP:0000533)	2.00685876
74	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.99727016
75	Abnormal mitochondria in muscle tissue (HP:0008316)	1.97948995
76	Increased hepatocellular lipid droplets (HP:0006565)	1.97723711
77	Polyuria (HP:0000103)	1.96637848
78	Tachypnea (HP:0002789)	1.94062936
79	Congenital hepatic fibrosis (HP:0002612)	1.92126254
80	Genital tract atresia (HP:0001827)	1.92062522
81	Hypothermia (HP:0002045)	1.89519451
82	Abnormal number of erythroid precursors (HP:0012131)	1.88968716
83	Methylmalonic aciduria (HP:0012120)	1.86683645
84	Broad-based gait (HP:0002136)	1.86180288
85	Hepatocellular necrosis (HP:0001404)	1.84721622
86	Postaxial foot polydactyly (HP:0001830)	1.84044252
87	Hepatic necrosis (HP:0002605)	1.82951501
88	Constricted visual fields (HP:0001133)	1.81205868
89	Patellar aplasia (HP:0006443)	1.78072303
90	Clumsiness (HP:0002312)	1.77740249
91	Vaginal atresia (HP:0000148)	1.77279528
92	Gaze-evoked nystagmus (HP:0000640)	1.76376927
93	Hemiparesis (HP:0001269)	1.76327470
94	Prominent supraorbital ridges (HP:0000336)	1.75381930
95	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.73283340
96	Hypoplasia of the fovea (HP:0007750)	1.73283340
97	Agitation (HP:0000713)	1.72097803
98	Intestinal atresia (HP:0011100)	1.70719340
99	Aplasia/Hypoplasia of the patella (HP:0006498)	1.70717142
100	Increased serum lactate (HP:0002151)	1.68457088

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.56631458
2	ADRBK2	3.51563962
3	INSRR	3.20713323
4	WNK4	2.99384552
5	GRK1	2.87865210
6	TLK1	2.86409889
7	ZAK	2.77672608
8	MAP4K2	2.61226136
9	WNK3	2.49318382
10	BMPR1B	2.30281825
11	NUAK1	2.28084455
12	CASK	2.07349479
13	TAOK3	2.06321755
14	PINK1	1.98746163
15	STK39	1.97324783
16	DAPK2	1.92064643
17	ACVR1B	1.90838256
18	TXK	1.86659071
19	PAK3	1.61578914
20	CAMKK2	1.56427063
21	MAPK13	1.49002542
22	PNCK	1.45143319
23	OXSR1	1.42552863
24	MARK1	1.37940268
25	VRK2	1.35245720
26	MAP3K4	1.31837274
27	NME1	1.12406995
28	PHKG2	1.11855367
29	PHKG1	1.11855367
30	NTRK3	1.08710749
31	VRK1	1.07815027
32	TGFBR1	1.03882651
33	ADRBK1	1.02374604
34	DYRK2	0.97334839
35	PRKCG	0.96022983
36	IKBKB	0.90225390
37	MKNK2	0.88074858
38	PIK3CA	0.87356999
39	BRSK2	0.86985024
40	PTK2B	0.85869857
41	RPS6KA5	0.84239961
42	BCKDK	0.81425823
43	TRIM28	0.81180128
44	PRKCE	0.77365303
45	MAPK15	0.76832018
46	TNK2	0.76505877
47	STK38L	0.75922620
48	MAP2K7	0.74932373
49	STK11	0.73269709
50	MAPKAPK5	0.71876001
51	MAP3K9	0.71826245
52	CSNK1G2	0.70313680
53	PRKCQ	0.70034159
54	MUSK	0.68483725
55	TIE1	0.67976932
56	TEC	0.67352972
57	NEK2	0.65505601
58	CSNK1G3	0.62461942
59	NTRK2	0.62419405
60	ITK	0.61980956
61	WNK1	0.61851198
62	MAP2K2	0.59939645
63	CSNK1G1	0.59093576
64	PKN1	0.58895268
65	KIT	0.57961495
66	TNIK	0.57093073
67	MAP2K6	0.52251218
68	CAMKK1	0.51945744
69	MST4	0.51374301
70	PRKACA	0.51256384
71	GRK6	0.51011576
72	CAMK2A	0.50074333
73	GRK7	0.49847656
74	CHUK	0.49499398
75	TSSK6	0.49320480
76	PRKCZ	0.49298819
77	STK3	0.48625073
78	CDK3	0.45969219
79	PLK4	0.45721419
80	MKNK1	0.45447297
81	CSNK1A1	0.44780442
82	FLT3	0.44361554
83	PLK3	0.43763594
84	PLK2	0.43498284
85	RPS6KA6	0.41558917
86	EIF2AK3	0.40669039
87	PRKCI	0.40104391
88	FGFR2	0.38512087
89	MAP2K1	0.38510147
90	CAMK1	0.37986962
91	OBSCN	0.37940639
92	SYK	0.35859456
93	PRKCA	0.35559973
94	CSNK1D	0.34628216
95	PLK1	0.34299725
96	PRKG1	0.33163866
97	TAF1	0.32668420
98	STK16	0.32409194
99	PASK	0.31574637
100	PAK6	0.30683082

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.93011787
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.92622766
3	Nitrogen metabolism_Homo sapiens_hsa00910	2.80998037
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.80834732
5	Phototransduction_Homo sapiens_hsa04744	2.77132044
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.69970265
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.47159555
8	Butanoate metabolism_Homo sapiens_hsa00650	2.38191488
9	Selenocompound metabolism_Homo sapiens_hsa00450	2.33650963
10	Ether lipid metabolism_Homo sapiens_hsa00565	2.24887110
11	Protein export_Homo sapiens_hsa03060	2.23507411
12	Parkinsons disease_Homo sapiens_hsa05012	2.08835580
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.04346655
14	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.97822021
15	Caffeine metabolism_Homo sapiens_hsa00232	1.94855545
16	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.92359076
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.83674222
18	Nicotine addiction_Homo sapiens_hsa05033	1.80981554
19	Basal transcription factors_Homo sapiens_hsa03022	1.80911315
20	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.80534205
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.75708589
22	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.75634176
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.69402691
24	Homologous recombination_Homo sapiens_hsa03440	1.52974488
25	RNA polymerase_Homo sapiens_hsa03020	1.44828772
26	Ribosome_Homo sapiens_hsa03010	1.42906099
27	Cardiac muscle contraction_Homo sapiens_hsa04260	1.38681920
28	One carbon pool by folate_Homo sapiens_hsa00670	1.38212373
29	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.37561038
30	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.36271040
31	Huntingtons disease_Homo sapiens_hsa05016	1.35250964
32	Alzheimers disease_Homo sapiens_hsa05010	1.29493233
33	Olfactory transduction_Homo sapiens_hsa04740	1.24820066
34	Fanconi anemia pathway_Homo sapiens_hsa03460	1.21852085
35	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.18843901
36	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.15669240
37	Asthma_Homo sapiens_hsa05310	1.15189972
38	Peroxisome_Homo sapiens_hsa04146	1.11131886
39	Regulation of autophagy_Homo sapiens_hsa04140	1.05907923
40	RNA degradation_Homo sapiens_hsa03018	1.05149196
41	Retinol metabolism_Homo sapiens_hsa00830	1.04011681
42	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.03040345
43	Insulin secretion_Homo sapiens_hsa04911	1.01647941
44	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.01472487
45	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00798372
46	Sulfur relay system_Homo sapiens_hsa04122	0.99360715
47	Taste transduction_Homo sapiens_hsa04742	0.98754012
48	Fat digestion and absorption_Homo sapiens_hsa04975	0.95294494
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.94230216
50	ABC transporters_Homo sapiens_hsa02010	0.94160842
51	Collecting duct acid secretion_Homo sapiens_hsa04966	0.92102045
52	Type I diabetes mellitus_Homo sapiens_hsa04940	0.90505426
53	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.89201694
54	Proteasome_Homo sapiens_hsa03050	0.89194789
55	Morphine addiction_Homo sapiens_hsa05032	0.86957186
56	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.82923996
57	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.81641687
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.79709921
59	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.77294759
60	Primary immunodeficiency_Homo sapiens_hsa05340	0.75940707
61	Allograft rejection_Homo sapiens_hsa05330	0.75408071
62	Propanoate metabolism_Homo sapiens_hsa00640	0.74225866
63	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.74141756
64	Mineral absorption_Homo sapiens_hsa04978	0.73404535
65	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.71545890
66	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.70069080
67	Sulfur metabolism_Homo sapiens_hsa00920	0.69883333
68	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.68482240
69	Glycerolipid metabolism_Homo sapiens_hsa00561	0.65507541
70	Metabolic pathways_Homo sapiens_hsa01100	0.65298269
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.64459306
72	Serotonergic synapse_Homo sapiens_hsa04726	0.62625081
73	Purine metabolism_Homo sapiens_hsa00230	0.61817187
74	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.60592868
75	GABAergic synapse_Homo sapiens_hsa04727	0.58286757
76	Graft-versus-host disease_Homo sapiens_hsa05332	0.57605887
77	Circadian entrainment_Homo sapiens_hsa04713	0.56589891
78	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.54227464
79	beta-Alanine metabolism_Homo sapiens_hsa00410	0.52928546
80	Glutamatergic synapse_Homo sapiens_hsa04724	0.52736234
81	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.50523643
82	Calcium signaling pathway_Homo sapiens_hsa04020	0.49734596
83	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.48939424
84	Pyrimidine metabolism_Homo sapiens_hsa00240	0.47623567
85	Folate biosynthesis_Homo sapiens_hsa00790	0.45093675
86	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.44569344
87	Histidine metabolism_Homo sapiens_hsa00340	0.44022210
88	Salivary secretion_Homo sapiens_hsa04970	0.41136229
89	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.40100141
90	Rheumatoid arthritis_Homo sapiens_hsa05323	0.39506485
91	Cocaine addiction_Homo sapiens_hsa05030	0.38410685
92	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.34168024
93	Nucleotide excision repair_Homo sapiens_hsa03420	0.31921986
94	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.31780991
95	Fatty acid degradation_Homo sapiens_hsa00071	0.31584476
96	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.31226446
97	Amphetamine addiction_Homo sapiens_hsa05031	0.30348235
98	Dopaminergic synapse_Homo sapiens_hsa04728	0.29664208
99	Circadian rhythm_Homo sapiens_hsa04710	0.28322670
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.24356599

HSPE1P10

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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