ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sulfation (GO:0051923)	7.07130346
2	potassium ion export (GO:0071435)	6.74129561
3	vascular smooth muscle contraction (GO:0014829)	6.36733855
4	positive regulation of vascular permeability (GO:0043117)	5.99802813
5	neuron fate determination (GO:0048664)	5.92759354
6	gamma-aminobutyric acid transport (GO:0015812)	5.85063490
7	artery smooth muscle contraction (GO:0014824)	5.25626787
8	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	5.08623527
9	presynaptic membrane assembly (GO:0097105)	5.08556246
10	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	4.94169006
11	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	4.94169006
12	adaptation of signaling pathway (GO:0023058)	4.92927249
13	amyloid precursor protein catabolic process (GO:0042987)	4.74598931
14	tonic smooth muscle contraction (GO:0014820)	4.47256623
15	tongue development (GO:0043586)	4.41170537
16	neuron cell-cell adhesion (GO:0007158)	4.39875075
17	membrane repolarization (GO:0086009)	4.39863803
18	neuronal stem cell maintenance (GO:0097150)	4.34999543
19	macroautophagy (GO:0016236)	4.28481644
20	regulation of response to food (GO:0032095)	4.16655140
21	keratinocyte proliferation (GO:0043616)	4.16401653
22	regulation of penile erection (GO:0060405)	4.11924690
23	replicative senescence (GO:0090399)	4.06462059
24	vocalization behavior (GO:0071625)	4.03020763
25	urinary tract smooth muscle contraction (GO:0014848)	4.01634425
26	regulation of heat generation (GO:0031650)	4.00837888
27	hindbrain development (GO:0030902)	3.99736572
28	presynaptic membrane organization (GO:0097090)	3.93730881
29	behavioral response to nicotine (GO:0035095)	3.87226131
30	detection of mechanical stimulus involved in sensory perception (GO:0050974)	3.83061497
31	multicellular organism reproduction (GO:0032504)	3.82031138
32	regulation of fever generation (GO:0031620)	3.64941264
33	regulation of mesoderm development (GO:2000380)	3.50964414
34	enteric nervous system development (GO:0048484)	3.45339122
35	phospholipid homeostasis (GO:0055091)	3.39167893
36	adult feeding behavior (GO:0008343)	3.38020820
37	negative regulation of interleukin-1 beta production (GO:0032691)	3.35592453
38	astrocyte differentiation (GO:0048708)	3.35029334
39	cell proliferation involved in metanephros development (GO:0072203)	3.33521818
40	glyoxylate metabolic process (GO:0046487)	3.25134104
41	cGMP-mediated signaling (GO:0019934)	3.22435234
42	postsynaptic membrane organization (GO:0001941)	3.18744801
43	sleep (GO:0030431)	3.17518324
44	negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)	3.14751083
45	cellular ketone body metabolic process (GO:0046950)	3.11159505
46	reverse cholesterol transport (GO:0043691)	3.10752552
47	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	3.09180807
48	midbrain development (GO:0030901)	3.06928276
49	regulation of cilium movement (GO:0003352)	3.05579155
50	vasoconstriction (GO:0042310)	3.04319362
51	sequestering of actin monomers (GO:0042989)	3.03909138
52	positive regulation of oligodendrocyte differentiation (GO:0048714)	3.00875746
53	fusion of sperm to egg plasma membrane (GO:0007342)	2.98841454
54	synaptic transmission, cholinergic (GO:0007271)	2.96706421
55	chondrocyte proliferation (GO:0035988)	2.94991123
56	short-chain fatty acid metabolic process (GO:0046459)	2.94703539
57	toxin transport (GO:1901998)	2.93608550
58	regulation of sensory perception (GO:0051931)	2.86359232
59	regulation of sensory perception of pain (GO:0051930)	2.86359232
60	nucleoside diphosphate catabolic process (GO:0009134)	2.85752573
61	regulation of phospholipid biosynthetic process (GO:0071071)	2.85239030
62	high-density lipoprotein particle remodeling (GO:0034375)	2.84710550
63	detection of temperature stimulus involved in sensory perception (GO:0050961)	2.84239022
64	detection of temperature stimulus involved in sensory perception of pain (GO:0050965)	2.84239022
65	regulation of appetite (GO:0032098)	2.84203790
66	axonemal dynein complex assembly (GO:0070286)	2.83157923
67	cell-cell signaling involved in cell fate commitment (GO:0045168)	2.82493462
68	auditory behavior (GO:0031223)	2.82484953
69	water-soluble vitamin biosynthetic process (GO:0042364)	2.81974594
70	aldehyde catabolic process (GO:0046185)	2.79530096
71	spinal cord motor neuron differentiation (GO:0021522)	2.79365259
72	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.76671568
73	indolalkylamine metabolic process (GO:0006586)	2.75928587
74	negative regulation of axon guidance (GO:1902668)	2.75582209
75	negative regulation of JUN kinase activity (GO:0043508)	2.75319995
76	regulation of dopamine secretion (GO:0014059)	2.74929776
77	signal peptide processing (GO:0006465)	2.74443522
78	nonmotile primary cilium assembly (GO:0035058)	2.73681926
79	ketone body metabolic process (GO:1902224)	2.72397859
80	neurotransmitter-gated ion channel clustering (GO:0072578)	2.69383301
81	negative regulation of interleukin-1 production (GO:0032692)	2.68860288
82	regulation of cell maturation (GO:1903429)	2.68333224
83	regulation of organ formation (GO:0003156)	2.66459578
84	regulation of cholesterol esterification (GO:0010872)	2.64983887
85	vasodilation (GO:0042311)	2.64948537
86	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.64635196
87	nucleotide transmembrane transport (GO:1901679)	2.64609643
88	phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)	2.63546836
89	endocrine pancreas development (GO:0031018)	2.63369830
90	chaperone-mediated protein complex assembly (GO:0051131)	2.62813684
91	activated T cell proliferation (GO:0050798)	2.60604555
92	pattern specification involved in kidney development (GO:0061004)	2.58122538
93	protein import into peroxisome matrix (GO:0016558)	2.57910077
94	negative regulation of multicellular organism growth (GO:0040015)	2.57537837
95	regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	2.55612431
96	growth hormone secretion (GO:0030252)	2.55479431
97	phasic smooth muscle contraction (GO:0014821)	2.55165050
98	amyloid precursor protein metabolic process (GO:0042982)	2.54132696
99	cell proliferation involved in kidney development (GO:0072111)	2.53216667
100	fatty acid elongation (GO:0030497)	2.52811121

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	7.68904481
2	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	5.09816423
3	EZH2_22144423_ChIP-Seq_EOC_Human	4.10601855
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.31776033
5	GBX2_23144817_ChIP-Seq_PC3_Human	3.00824815
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.44864049
7	VDR_22108803_ChIP-Seq_LS180_Human	2.41053224
8	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.33501511
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.12942219
10	PIAS1_25552417_ChIP-Seq_VCAP_Human	2.07506422
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.01847650
12	P300_19829295_ChIP-Seq_ESCs_Human	1.93516981
13	AR_21572438_ChIP-Seq_LNCaP_Human	1.90199775
14	FUS_26573619_Chip-Seq_HEK293_Human	1.89810482
15	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.89058709
16	ER_23166858_ChIP-Seq_MCF-7_Human	1.86884985
17	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.81941836
18	RXR_22108803_ChIP-Seq_LS180_Human	1.66332915
19	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.65509791
20	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.65033008
21	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.63604849
22	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.63196059
23	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.59184827
24	BCAT_22108803_ChIP-Seq_LS180_Human	1.55253563
25	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.53051625
26	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.47781822
27	DROSHA_22980978_ChIP-Seq_HELA_Human	1.47416418
28	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.47074507
29	AR_25329375_ChIP-Seq_VCAP_Human	1.46949819
30	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.44204601
31	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43013115
32	IRF1_19129219_ChIP-ChIP_H3396_Human	1.41631913
33	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.41143659
34	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.38207323
35	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.35191456
36	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.34775251
37	RNF2_27304074_Chip-Seq_NSC_Mouse	1.33455696
38	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.33396453
39	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.33133795
40	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.33043966
41	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.32972241
42	STAT3_23295773_ChIP-Seq_U87_Human	1.31616425
43	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.31248266
44	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30479135
45	SMAD4_21799915_ChIP-Seq_A2780_Human	1.30191563
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.29508285
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.29508285
48	REST_21632747_ChIP-Seq_MESCs_Mouse	1.27732842
49	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.25304922
50	HTT_18923047_ChIP-ChIP_STHdh_Human	1.24917165
51	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.24715211
52	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.24461293
53	EWS_26573619_Chip-Seq_HEK293_Human	1.23412456
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.22886811
55	TCF4_22108803_ChIP-Seq_LS180_Human	1.22200912
56	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.21738175
57	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.20570681
58	AR_20517297_ChIP-Seq_VCAP_Human	1.19733341
59	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.18549971
60	RUNX2_22187159_ChIP-Seq_PCA_Human	1.15962854
61	TP53_22573176_ChIP-Seq_HFKS_Human	1.14922365
62	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13765554
63	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.10231894
64	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.08474878
65	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.08373006
66	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.08127742
67	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.07083584
68	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.06678843
69	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.06627454
70	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.06454321
71	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.05502840
72	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.05242897
73	CBP_20019798_ChIP-Seq_JUKART_Human	1.04774545
74	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.04774545
75	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.03436148
76	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.03044565
77	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.02310148
78	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.01662044
79	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.01662044
80	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.98826868
81	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.98495749
82	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.97410927
83	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97271478
84	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.96530638
85	TCF4_23295773_ChIP-Seq_U87_Human	0.95981613
86	CDX2_22108803_ChIP-Seq_LS180_Human	0.95416206
87	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.95109299
88	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.95109299
89	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.95093752
90	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.94818048
91	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.94313794
92	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.94313794
93	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.93995291
94	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.93880650
95	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.93670994
96	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.92644874
97	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.91254493
98	SOX9_26525672_Chip-Seq_HEART_Mouse	0.90928143
99	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.90268942
100	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.89748258

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005171_absent_coat_pigmentation	5.06493879
2	MP0002653_abnormal_ependyma_morphology	3.76167965
3	MP0002234_abnormal_pharynx_morphology	2.62419350
4	MP0002277_abnormal_respiratory_mucosa	2.45297723
5	MP0006292_abnormal_olfactory_placode	2.06068450
6	MP0003283_abnormal_digestive_organ	2.03208388
7	MP0003136_yellow_coat_color	11.7729253
8	MP0005174_abnormal_tail_pigmentation	1.90991449
9	MP0002928_abnormal_bile_duct	1.90672752
10	MP0001986_abnormal_taste_sensitivity	1.90508150
11	MP0003195_calcinosis	1.86623441
12	MP0008872_abnormal_physiological_respon	1.80666356
13	MP0005084_abnormal_gallbladder_morpholo	1.77975452
14	MP0000427_abnormal_hair_cycle	1.74362703
15	MP0001968_abnormal_touch/_nociception	1.72603486
16	MP0002736_abnormal_nociception_after	1.66156180
17	MP0002282_abnormal_trachea_morphology	1.58367583
18	MP0001293_anophthalmia	1.55210298
19	MP0001984_abnormal_olfaction	1.52590149
20	MP0009053_abnormal_anal_canal	1.51061458
21	MP0000383_abnormal_hair_follicle	1.49852333
22	MP0005551_abnormal_eye_electrophysiolog	1.49233670
23	MP0006072_abnormal_retinal_apoptosis	1.49176361
24	MP0000631_abnormal_neuroendocrine_gland	1.42238257
25	MP0004142_abnormal_muscle_tone	1.41087237
26	MP0002095_abnormal_skin_pigmentation	1.38852354
27	MP0005220_abnormal_exocrine_pancreas	1.37896777
28	MP0002102_abnormal_ear_morphology	1.36807561
29	MP0009046_muscle_twitch	1.36518441
30	MP0008875_abnormal_xenobiotic_pharmacok	1.33949709
31	MP0001970_abnormal_pain_threshold	1.33395255
32	MP0000613_abnormal_salivary_gland	1.25298569
33	MP0002751_abnormal_autonomic_nervous	1.23807953
34	MP0008877_abnormal_DNA_methylation	1.23285636
35	MP0005503_abnormal_tendon_morphology	1.21713769
36	MP0002876_abnormal_thyroid_physiology	1.20548421
37	MP0003646_muscle_fatigue	1.17513961
38	MP0002160_abnormal_reproductive_system	1.17102078
39	MP0005410_abnormal_fertilization	1.16280564
40	MP0004130_abnormal_muscle_cell	1.16084181
41	MP0002249_abnormal_larynx_morphology	1.15508612
42	MP0005085_abnormal_gallbladder_physiolo	1.14507580
43	MP0004133_heterotaxia	1.13556398
44	MP0005253_abnormal_eye_physiology	1.12921073
45	MP0009840_abnormal_foam_cell	1.10830188
46	MP0002638_abnormal_pupillary_reflex	1.10758414
47	MP0002572_abnormal_emotion/affect_behav	1.09270065
48	MP0002733_abnormal_thermal_nociception	1.09241338
49	MP0002734_abnormal_mechanical_nocicepti	1.08247541
50	MP0004147_increased_porphyrin_level	1.07956854
51	MP0001485_abnormal_pinna_reflex	1.06849932
52	MP0005448_abnormal_energy_balance	1.05288964
53	MP0009745_abnormal_behavioral_response	1.03445598
54	MP0003638_abnormal_response/metabolism_	1.03354738
55	MP0002272_abnormal_nervous_system	1.02731534
56	MP0005646_abnormal_pituitary_gland	1.02379646
57	MP0003868_abnormal_feces_composition	0.97420142
58	MP0001664_abnormal_digestion	0.97278152
59	MP0003119_abnormal_digestive_system	0.93838239
60	MP0000026_abnormal_inner_ear	0.93237438
61	MP0001501_abnormal_sleep_pattern	0.91699923
62	MP0001663_abnormal_digestive_system	0.90523458
63	MP0005423_abnormal_somatic_nervous	0.88281504
64	MP0001756_abnormal_urination	0.86719840
65	MP0000538_abnormal_urinary_bladder	0.85513333
66	MP0002909_abnormal_adrenal_gland	0.85406272
67	MP0005389_reproductive_system_phenotype	0.83581241
68	MP0003755_abnormal_palate_morphology	0.83014515
69	MP0003632_abnormal_nervous_system	0.81535498
70	MP0002064_seizures	0.81107498
71	MP0005195_abnormal_posterior_eye	0.79826108
72	MP0003959_abnormal_lean_body	0.78158943
73	MP0010329_abnormal_lipoprotein_level	0.77915150
74	MP0002067_abnormal_sensory_capabilities	0.74338355
75	MP0004043_abnormal_pH_regulation	0.73496992
76	MP0005391_vision/eye_phenotype	0.73322304
77	MP0008995_early_reproductive_senescence	0.71304585
78	MP0005381_digestive/alimentary_phenotyp	0.68477379
79	MP0000955_abnormal_spinal_cord	0.67640898
80	MP0001944_abnormal_pancreas_morphology	0.66282666
81	MP0000467_abnormal_esophagus_morphology	0.65757595
82	MP0002063_abnormal_learning/memory/cond	0.65463972
83	MP0001270_distended_abdomen	0.65160340
84	MP0000778_abnormal_nervous_system	0.63954642
85	MP0000470_abnormal_stomach_morphology	0.63808804
86	MP0008961_abnormal_basal_metabolism	0.63466090
87	MP0003698_abnormal_male_reproductive	0.62466295
88	MP0002557_abnormal_social/conspecific_i	0.61248350
89	MP0001324_abnormal_eye_pigmentation	0.61081325
90	MP0000647_abnormal_sebaceous_gland	0.60039049
91	MP0001919_abnormal_reproductive_system	0.59827328
92	MP0001963_abnormal_hearing_physiology	0.56966951
93	MP0009250_abnormal_appendicular_skeleto	0.56584006
94	MP0002735_abnormal_chemical_nociception	0.56499284
95	MP0002932_abnormal_joint_morphology	0.54411268
96	MP0003786_premature_aging	0.53984809
97	MP0005332_abnormal_amino_acid	0.53525555
98	MP0002229_neurodegeneration	0.52930563
99	MP0005365_abnormal_bile_salt	0.52223218
100	MP0001529_abnormal_vocalization	0.52152759

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Septo-optic dysplasia (HP:0100842)	6.21993686
2	Progressive cerebellar ataxia (HP:0002073)	5.24457241
3	Large for gestational age (HP:0001520)	4.99096190
4	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.89614560
5	Esophageal atresia (HP:0002032)	4.38935759
6	Postural tremor (HP:0002174)	4.31415222
7	Horizontal nystagmus (HP:0000666)	4.07398085
8	Maternal diabetes (HP:0009800)	3.78652148
9	Type II lissencephaly (HP:0007260)	3.73623549
10	Optic nerve hypoplasia (HP:0000609)	3.70377960
11	Hyperventilation (HP:0002883)	3.62297761
12	Abnormal respiratory motile cilium physiology (HP:0012261)	3.50189718
13	Pancreatic fibrosis (HP:0100732)	3.45163297
14	Rhinitis (HP:0012384)	3.31448110
15	True hermaphroditism (HP:0010459)	3.30465007
16	Birth length less than 3rd percentile (HP:0003561)	3.28215988
17	Gastrointestinal atresia (HP:0002589)	3.24557492
18	Pancreatic cysts (HP:0001737)	3.23668669
19	Congenital, generalized hypertrichosis (HP:0004540)	3.20006884
20	Rib fusion (HP:0000902)	3.15245588
21	Absent septum pellucidum (HP:0001331)	3.12100629
22	Patchy hypopigmentation of hair (HP:0011365)	3.08932993
23	Tubular atrophy (HP:0000092)	3.07569653
24	Abnormal auditory evoked potentials (HP:0006958)	3.05524681
25	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	3.04230794
26	Nasal polyposis (HP:0100582)	2.91423934
27	Anophthalmia (HP:0000528)	2.87147470
28	Abnormality of midbrain morphology (HP:0002418)	2.86854718
29	Molar tooth sign on MRI (HP:0002419)	2.86854718
30	White forelock (HP:0002211)	2.83421155
31	Concave nail (HP:0001598)	2.79980631
32	Albinism (HP:0001022)	2.71592111
33	Ulnar claw (HP:0001178)	2.68628063
34	Abnormality of the septum pellucidum (HP:0007375)	2.68477577
35	Gaze-evoked nystagmus (HP:0000640)	2.62664578
36	Abnormal ciliary motility (HP:0012262)	2.62196817
37	Tubulointerstitial fibrosis (HP:0005576)	2.60000309
38	Long nose (HP:0003189)	2.56701013
39	Chronic hepatic failure (HP:0100626)	2.54377674
40	Spastic tetraparesis (HP:0001285)	2.54329949
41	Abnormality of the diencephalon (HP:0010662)	2.51362773
42	Progressive inability to walk (HP:0002505)	2.49797271
43	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.48584682
44	Absent/shortened dynein arms (HP:0200106)	2.48584682
45	Hypoplastic labia majora (HP:0000059)	2.40078463
46	Large eyes (HP:0001090)	2.38834988
47	High pitched voice (HP:0001620)	2.31517746
48	Furrowed tongue (HP:0000221)	2.30525080
49	Mesangial abnormality (HP:0001966)	2.29967340
50	Thyroid-stimulating hormone excess (HP:0002925)	2.29668578
51	Methylmalonic acidemia (HP:0002912)	2.29025577
52	Hyperglycinemia (HP:0002154)	2.28911913
53	Sclerocornea (HP:0000647)	2.28270357
54	Delayed epiphyseal ossification (HP:0002663)	2.26931159
55	Abnormality of the labia majora (HP:0012881)	2.26239357
56	Brittle hair (HP:0002299)	2.26211120
57	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.24108255
58	Abnormality of alanine metabolism (HP:0010916)	2.24108255
59	Hyperalaninemia (HP:0003348)	2.24108255
60	Chronic bronchitis (HP:0004469)	2.24043224
61	Abnormality of the nasal mucosa (HP:0000433)	2.23192511
62	Attenuation of retinal blood vessels (HP:0007843)	2.18929102
63	Occipital encephalocele (HP:0002085)	2.18408571
64	Medial flaring of the eyebrow (HP:0010747)	2.18170168
65	Drooling (HP:0002307)	2.10167243
66	Enlarged epiphyses (HP:0010580)	2.08204228
67	Abnormal hair laboratory examination (HP:0003328)	2.06448708
68	Chorioretinal atrophy (HP:0000533)	2.05782470
69	Nephronophthisis (HP:0000090)	2.05069138
70	Hamartoma (HP:0010566)	2.04569740
71	Preaxial hand polydactyly (HP:0001177)	2.03131222
72	Retinal dysplasia (HP:0007973)	2.02892476
73	Bronchomalacia (HP:0002780)	2.00178801
74	Cystic liver disease (HP:0006706)	2.00019589
75	Prominent supraorbital ridges (HP:0000336)	1.99403892
76	Abnormality of ocular smooth pursuit (HP:0000617)	1.99213839
77	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.99126845
78	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.98359343
79	Disproportionate short-trunk short stature (HP:0003521)	1.96466394
80	Tubulointerstitial abnormality (HP:0001969)	1.94540538
81	Hemivertebrae (HP:0002937)	1.94370851
82	Median cleft lip (HP:0000161)	1.94213335
83	Abolished electroretinogram (ERG) (HP:0000550)	1.92620997
84	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.92306710
85	Excessive salivation (HP:0003781)	1.91270749
86	Severe muscular hypotonia (HP:0006829)	1.91148482
87	Thin bony cortex (HP:0002753)	1.90431573
88	Hemiparesis (HP:0001269)	1.90203600
89	Missing ribs (HP:0000921)	1.90141966
90	Abnormal respiratory epithelium morphology (HP:0012253)	1.89844891
91	Abnormal respiratory motile cilium morphology (HP:0005938)	1.89844891
92	Conjunctival hamartoma (HP:0100780)	1.89841297
93	Pili torti (HP:0003777)	1.88851137
94	Bilateral microphthalmos (HP:0007633)	1.88631180
95	Ketoacidosis (HP:0001993)	1.88169157
96	Methylmalonic aciduria (HP:0012120)	1.87355677
97	Abnormality of the renal cortex (HP:0011035)	1.84665507
98	Supernumerary bones of the axial skeleton (HP:0009144)	1.82833307
99	Congenital stationary night blindness (HP:0007642)	1.81593776
100	Truncal ataxia (HP:0002078)	1.80796848

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PNCK	7.26663618
2	CASK	6.06457237
3	MAPK15	6.00967264
4	PDK2	5.54212450
5	TSSK6	3.20293741
6	INSRR	2.98611298
7	FRK	2.17455128
8	WEE1	2.01689146
9	VRK1	1.97079079
10	BMPR1B	1.85055545
11	STK38L	1.79714695
12	EIF2AK1	1.63157559
13	CDK8	1.46084300
14	NEK6	1.39875874
15	MAPKAPK3	1.39001999
16	TLK1	1.33857848
17	STK16	1.25497584
18	PTK2B	1.17963258
19	STK3	1.10214716
20	GRK1	1.01317853
21	CDK3	0.95860842
22	ACVR1B	0.95582240
23	MAPKAPK5	0.89129316
24	ZAK	0.88854922
25	MAPK13	0.85674850
26	NTRK2	0.85118897
27	PKN1	0.85009230
28	TGFBR1	0.83585892
29	PINK1	0.81677967
30	ADRBK2	0.81549963
31	NTRK3	0.77292449
32	GRK7	0.75817267
33	PRKCG	0.73980659
34	PAK6	0.69696865
35	NUAK1	0.68658575
36	GRK5	0.67109004
37	STK24	0.65237312
38	ADRBK1	0.64614017
39	TIE1	0.62807380
40	MAPK12	0.61837785
41	PDPK1	0.61177420
42	RPS6KA5	0.59904367
43	BMX	0.59772449
44	PDK1	0.59726258
45	CAMK1G	0.59292094
46	DAPK2	0.56617833
47	TAOK3	0.55663328
48	MAP2K6	0.54907944
49	WNK3	0.50079351
50	PIK3CG	0.48517239
51	PHKG1	0.48263725
52	PHKG2	0.48263725
53	CSF1R	0.48240625
54	OXSR1	0.44008423
55	MAP3K2	0.43920536
56	SIK2	0.42915566
57	MKNK2	0.42506133
58	LRRK2	0.40995691
59	FGR	0.40262735
60	CDK9	0.38533949
61	PRKCE	0.38267287
62	EIF2AK3	0.38153603
63	PLK2	0.37784417
64	MAP3K4	0.37218300
65	ERBB3	0.36950644
66	PAK2	0.36453656
67	NEK2	0.36311792
68	TXK	0.34930651
69	MAP4K2	0.33435911
70	STK39	0.33129832
71	BCKDK	0.32027462
72	PLK4	0.31610163
73	STK11	0.31495226
74	RPS6KB1	0.30939807
75	DAPK3	0.30886147
76	CAMK2D	0.30098174
77	EPHA4	0.29907336
78	CAMK1	0.29907263
79	PIK3CA	0.29795827
80	PRKD1	0.29769850
81	EIF2AK2	0.29309173
82	PLK3	0.28910869
83	MELK	0.28238366
84	RPS6KA4	0.26388383
85	PRKCQ	0.26385283
86	STK38	0.25767403
87	MET	0.25258864
88	CAMK2G	0.25164801
89	PRKCZ	0.25104095
90	MKNK1	0.23571470
91	PRKACB	0.23498420
92	CHUK	0.23186086
93	PRKACA	0.23163214
94	GSK3A	0.22599414
95	MAP2K2	0.22059456
96	WNK1	0.21296993
97	CAMK2A	0.20909816
98	RET	0.20608589
99	PRKCA	0.19505961
100	AKT2	0.18508744

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	4.96203283
2	Butanoate metabolism_Homo sapiens_hsa00650	3.62349074
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.11796300
4	Propanoate metabolism_Homo sapiens_hsa00640	2.78847059
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.71444982
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.66247350
7	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.32438125
8	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.14011383
9	Tryptophan metabolism_Homo sapiens_hsa00380	2.08628337
10	Steroid biosynthesis_Homo sapiens_hsa00100	1.96806668
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.94151112
12	Basal cell carcinoma_Homo sapiens_hsa05217	1.90574828
13	One carbon pool by folate_Homo sapiens_hsa00670	1.89907450
14	Taste transduction_Homo sapiens_hsa04742	1.87174037
15	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.83653795
16	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.82978272
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.80522103
18	Linoleic acid metabolism_Homo sapiens_hsa00591	1.78954608
19	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.68061398
20	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.60589651
21	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.55919810
22	Fatty acid elongation_Homo sapiens_hsa00062	1.55490127
23	Olfactory transduction_Homo sapiens_hsa04740	1.54510969
24	Fatty acid metabolism_Homo sapiens_hsa01212	1.50797390
25	Insulin secretion_Homo sapiens_hsa04911	1.41688439
26	Phototransduction_Homo sapiens_hsa04744	1.39594308
27	Nicotine addiction_Homo sapiens_hsa05033	1.38042424
28	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.37312424
29	Homologous recombination_Homo sapiens_hsa03440	1.37035484
30	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.27381499
31	ABC transporters_Homo sapiens_hsa02010	1.27107231
32	Caffeine metabolism_Homo sapiens_hsa00232	1.26885395
33	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.24192043
34	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	1.19698715
35	Oxidative phosphorylation_Homo sapiens_hsa00190	1.19036061
36	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.18789813
37	Ether lipid metabolism_Homo sapiens_hsa00565	1.06672117
38	beta-Alanine metabolism_Homo sapiens_hsa00410	1.03954437
39	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.03351399
40	PPAR signaling pathway_Homo sapiens_hsa03320	1.01822055
41	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00533991
42	Fatty acid degradation_Homo sapiens_hsa00071	0.94157222
43	Protein export_Homo sapiens_hsa03060	0.92939755
44	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.92181667
45	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.91560472
46	RNA polymerase_Homo sapiens_hsa03020	0.91328209
47	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.90746552
48	Sphingolipid metabolism_Homo sapiens_hsa00600	0.88523935
49	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.83665538
50	Selenocompound metabolism_Homo sapiens_hsa00450	0.82812412
51	cAMP signaling pathway_Homo sapiens_hsa04024	0.82693763
52	Retinol metabolism_Homo sapiens_hsa00830	0.81435683
53	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.79584953
54	Parkinsons disease_Homo sapiens_hsa05012	0.77830477
55	Estrogen signaling pathway_Homo sapiens_hsa04915	0.77765661
56	Hippo signaling pathway_Homo sapiens_hsa04390	0.77171637
57	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.76820349
58	Melanogenesis_Homo sapiens_hsa04916	0.75062094
59	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.73987404
60	Peroxisome_Homo sapiens_hsa04146	0.73732647
61	Fanconi anemia pathway_Homo sapiens_hsa03460	0.73377349
62	Basal transcription factors_Homo sapiens_hsa03022	0.72790456
63	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.72189238
64	Cocaine addiction_Homo sapiens_hsa05030	0.71493664
65	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.69885404
66	Calcium signaling pathway_Homo sapiens_hsa04020	0.69772278
67	Type II diabetes mellitus_Homo sapiens_hsa04930	0.65415348
68	Glycerolipid metabolism_Homo sapiens_hsa00561	0.64469161
69	Pyruvate metabolism_Homo sapiens_hsa00620	0.62518058
70	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.60712489
71	Cardiac muscle contraction_Homo sapiens_hsa04260	0.60619074
72	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.60081270
73	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.58904580
74	Bile secretion_Homo sapiens_hsa04976	0.56256669
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.55726265
76	African trypanosomiasis_Homo sapiens_hsa05143	0.54409772
77	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.52857184
78	Collecting duct acid secretion_Homo sapiens_hsa04966	0.51506816
79	Histidine metabolism_Homo sapiens_hsa00340	0.50843652
80	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.49655955
81	Lysine degradation_Homo sapiens_hsa00310	0.48271699
82	Amphetamine addiction_Homo sapiens_hsa05031	0.47592756
83	Metabolic pathways_Homo sapiens_hsa01100	0.47043185
84	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.46284959
85	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.45747572
86	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.44826963
87	GABAergic synapse_Homo sapiens_hsa04727	0.43691535
88	Purine metabolism_Homo sapiens_hsa00230	0.42425331
89	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.36075185
90	Renin-angiotensin system_Homo sapiens_hsa04614	0.35157557
91	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.33764998
92	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.31476247
93	Huntingtons disease_Homo sapiens_hsa05016	0.29892897
94	Asthma_Homo sapiens_hsa05310	0.28578240
95	Melanoma_Homo sapiens_hsa05218	0.24754334
96	Nucleotide excision repair_Homo sapiens_hsa03420	0.23816074
97	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.23713310
98	Salivary secretion_Homo sapiens_hsa04970	0.23277673
99	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.23183855
100	Alzheimers disease_Homo sapiens_hsa05010	0.22569251

OR4A49P

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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