ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	4.25473164
2	DNA deamination (GO:0045006)	4.07899725
3	tryptophan catabolic process (GO:0006569)	3.92612513
4	indole-containing compound catabolic process (GO:0042436)	3.92612513
5	indolalkylamine catabolic process (GO:0046218)	3.92612513
6	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.71729278
7	water-soluble vitamin biosynthetic process (GO:0042364)	3.69037592
8	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.63416075
9	regulation of translation, ncRNA-mediated (GO:0045974)	3.63416075
10	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.63416075
11	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.61535599
12	detection of light stimulus involved in sensory perception (GO:0050962)	3.53875337
13	detection of light stimulus involved in visual perception (GO:0050908)	3.53875337
14	protein K11-linked deubiquitination (GO:0035871)	3.52140539
15	synapsis (GO:0007129)	3.49440851
16	UDP-N-acetylglucosamine metabolic process (GO:0006047)	3.43748611
17	lactate metabolic process (GO:0006089)	3.39258054
18	behavioral response to nicotine (GO:0035095)	3.37266328
19	kidney morphogenesis (GO:0060993)	3.31895706
20	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.23158147
21	piRNA metabolic process (GO:0034587)	3.22581560
22	L-fucose catabolic process (GO:0042355)	3.17881603
23	fucose catabolic process (GO:0019317)	3.17881603
24	L-fucose metabolic process (GO:0042354)	3.17881603
25	tryptophan metabolic process (GO:0006568)	3.16003070
26	inositol phosphate catabolic process (GO:0071545)	3.13928334
27	regulation of neurotransmitter uptake (GO:0051580)	3.10331764
28	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	3.08046921
29	polyol catabolic process (GO:0046174)	3.06385364
30	cornea development in camera-type eye (GO:0061303)	3.03526420
31	indolalkylamine metabolic process (GO:0006586)	3.03016254
32	replication fork processing (GO:0031297)	2.98570342
33	kynurenine metabolic process (GO:0070189)	2.97726680
34	cellular ketone body metabolic process (GO:0046950)	2.94394262
35	keratinocyte development (GO:0003334)	2.93085582
36	negative regulation of mast cell activation (GO:0033004)	2.91961722
37	regulation of glucokinase activity (GO:0033131)	2.89078179
38	regulation of hexokinase activity (GO:1903299)	2.89078179
39	cellular biogenic amine catabolic process (GO:0042402)	2.88437728
40	amine catabolic process (GO:0009310)	2.88437728
41	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.86842855
42	recombinational repair (GO:0000725)	2.84572142
43	peristalsis (GO:0030432)	2.83695039
44	cellular response to ATP (GO:0071318)	2.82743690
45	positive regulation of meiosis (GO:0045836)	2.82522657
46	meiotic chromosome segregation (GO:0045132)	2.82521102
47	double-strand break repair via homologous recombination (GO:0000724)	2.81655197
48	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.80932309
49	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.80932309
50	protein K6-linked ubiquitination (GO:0085020)	2.80306878
51	respiratory chain complex IV assembly (GO:0008535)	2.79091196
52	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.73299697
53	ketone body metabolic process (GO:1902224)	2.73132540
54	positive regulation of triglyceride biosynthetic process (GO:0010867)	2.72903477
55	preassembly of GPI anchor in ER membrane (GO:0016254)	2.71848082
56	adaptation of signaling pathway (GO:0023058)	2.71825728
57	spinal cord motor neuron differentiation (GO:0021522)	2.69958995
58	aromatic amino acid family catabolic process (GO:0009074)	2.68864337
59	reflex (GO:0060004)	2.68643238
60	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.67787869
61	protein polyglutamylation (GO:0018095)	2.66604046
62	protein-cofactor linkage (GO:0018065)	2.64019406
63	platelet dense granule organization (GO:0060155)	2.63380051
64	microtubule anchoring (GO:0034453)	2.63354085
65	axoneme assembly (GO:0035082)	2.62678606
66	positive regulation of meiotic cell cycle (GO:0051446)	2.62145973
67	DNA methylation involved in gamete generation (GO:0043046)	2.62090746
68	sulfation (GO:0051923)	2.61470235
69	histone mRNA catabolic process (GO:0071044)	2.60927011
70	centriole replication (GO:0007099)	2.56688812
71	startle response (GO:0001964)	2.55649824
72	auditory receptor cell stereocilium organization (GO:0060088)	2.54766210
73	photoreceptor cell maintenance (GO:0045494)	2.54485522
74	indole-containing compound metabolic process (GO:0042430)	2.54163150
75	S-adenosylmethionine metabolic process (GO:0046500)	2.51865624
76	reciprocal DNA recombination (GO:0035825)	2.50620388
77	reciprocal meiotic recombination (GO:0007131)	2.50620388
78	gamma-aminobutyric acid transport (GO:0015812)	2.50424082
79	proline transport (GO:0015824)	2.50220673
80	dopamine transport (GO:0015872)	2.48699233
81	mannosylation (GO:0097502)	2.47165917
82	estrogen metabolic process (GO:0008210)	2.45056124
83	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.44563278
84	otic vesicle formation (GO:0030916)	2.44371749
85	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.43751717
86	embryonic epithelial tube formation (GO:0001838)	2.43347266
87	histone H2A acetylation (GO:0043968)	2.42970085
88	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.42800511
89	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.42800511
90	somite development (GO:0061053)	2.42143960
91	neural tube formation (GO:0001841)	2.41863595
92	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.41326766
93	regulation of action potential (GO:0098900)	2.38932970
94	nephron tubule morphogenesis (GO:0072078)	2.38851412
95	nephron epithelium morphogenesis (GO:0072088)	2.38851412
96	neuronal action potential (GO:0019228)	2.38302770
97	regulation of telomere maintenance (GO:0032204)	2.37795134
98	GPI anchor metabolic process (GO:0006505)	2.37135461
99	transepithelial transport (GO:0070633)	2.36543158
100	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.36456029

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.42807627
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.12596616
3	VDR_22108803_ChIP-Seq_LS180_Human	2.92652862
4	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.82802613
5	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.79490257
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.74984443
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.67179900
8	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.55072966
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.43842060
10	EWS_26573619_Chip-Seq_HEK293_Human	2.30022528
11	FUS_26573619_Chip-Seq_HEK293_Human	2.27929383
12	IGF1R_20145208_ChIP-Seq_DFB_Human	2.24426414
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.16851420
14	P300_19829295_ChIP-Seq_ESCs_Human	2.06619384
15	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.02335977
16	ER_23166858_ChIP-Seq_MCF-7_Human	1.86869003
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.86028050
18	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.85558090
19	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.85385043
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.84540352
21	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.84013698
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.77086618
23	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.72547546
24	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.71051628
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.70706116
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.63865611
27	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.63180698
28	STAT3_23295773_ChIP-Seq_U87_Human	1.63155728
29	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.62304900
30	SMAD4_21799915_ChIP-Seq_A2780_Human	1.59028607
31	EZH2_22144423_ChIP-Seq_EOC_Human	1.56849502
32	TCF4_23295773_ChIP-Seq_U87_Human	1.53371916
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.52664850
34	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.52458245
35	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.51559744
36	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.50562060
37	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.49235438
38	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.47752197
39	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.46796705
40	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.46796705
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.46226698
42	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.45395164
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.43665875
44	AR_25329375_ChIP-Seq_VCAP_Human	1.41332388
45	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.40356809
46	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.40170789
47	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.39421606
48	TAF15_26573619_Chip-Seq_HEK293_Human	1.37376745
49	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.35179648
50	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.35179648
51	TCF4_22108803_ChIP-Seq_LS180_Human	1.34730991
52	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34414840
53	MYC_18940864_ChIP-ChIP_HL60_Human	1.33750290
54	CDX2_22108803_ChIP-Seq_LS180_Human	1.33594148
55	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33464703
56	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.30781715
57	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.30534205
58	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.30148733
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.29214669
60	SOX2_19829295_ChIP-Seq_ESCs_Human	1.29214669
61	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.27997897
62	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27433818
63	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27199614
64	CBP_20019798_ChIP-Seq_JUKART_Human	1.27115196
65	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.27115196
66	ELK1_19687146_ChIP-ChIP_HELA_Human	1.27066323
67	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.26912890
68	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.26743367
69	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.25704823
70	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.24449733
71	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.23843611
72	TP53_22573176_ChIP-Seq_HFKS_Human	1.22024520
73	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.21936899
74	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20145937
75	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20079171
76	RUNX2_22187159_ChIP-Seq_PCA_Human	1.18558487
77	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.18460633
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.18176927
79	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.18087762
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.17574367
81	P53_22387025_ChIP-Seq_ESCs_Mouse	1.12998680
82	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.12269128
83	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09531445
84	IRF1_19129219_ChIP-ChIP_H3396_Human	1.09048778
85	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.08157576
86	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.08126894
87	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.07009929
88	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.06683597
89	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.05603300
90	NCOR_22424771_ChIP-Seq_293T_Human	1.05496022
91	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.05303247
92	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.04813874
93	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03757379
94	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.02727474
95	REST_21632747_ChIP-Seq_MESCs_Mouse	1.01775749
96	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01438947
97	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.01314510
98	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.00793369
99	HTT_18923047_ChIP-ChIP_STHdh_Human	1.00137624
100	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.99508423

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.38724835
2	MP0002837_dystrophic_cardiac_calcinosis	2.77945659
3	MP0008877_abnormal_DNA_methylation	2.72078823
4	MP0006072_abnormal_retinal_apoptosis	2.66983676
5	MP0002102_abnormal_ear_morphology	2.38313675
6	MP0000569_abnormal_digit_pigmentation	2.35754924
7	MP0005551_abnormal_eye_electrophysiolog	2.34304826
8	MP0005646_abnormal_pituitary_gland	2.32665754
9	MP0005379_endocrine/exocrine_gland_phen	2.31858624
10	MP0002876_abnormal_thyroid_physiology	2.10633035
11	MP0000372_irregular_coat_pigmentation	2.09709809
12	MP0000427_abnormal_hair_cycle	2.03604136
13	MP0003646_muscle_fatigue	2.00907003
14	MP0002160_abnormal_reproductive_system	1.98445205
15	MP0005253_abnormal_eye_physiology	1.97765862
16	MP0004885_abnormal_endolymph	1.95049405
17	MP0008058_abnormal_DNA_repair	1.84971645
18	MP0008875_abnormal_xenobiotic_pharmacok	1.80103937
19	MP0003890_abnormal_embryonic-extraembry	1.80025821
20	MP0008872_abnormal_physiological_respon	1.78968037
21	MP0003011_delayed_dark_adaptation	1.77961914
22	MP0005389_reproductive_system_phenotype	1.75584814
23	MP0003880_abnormal_central_pattern	1.70844773
24	MP0002938_white_spotting	1.68393456
25	MP0002163_abnormal_gland_morphology	1.67055309
26	MP0004145_abnormal_muscle_electrophysio	1.65528356
27	MP0005645_abnormal_hypothalamus_physiol	1.65362667
28	MP0002254_reproductive_system_inflammat	1.63174918
29	MP0001485_abnormal_pinna_reflex	1.62158587
30	MP0005174_abnormal_tail_pigmentation	1.55728523
31	MP0006292_abnormal_olfactory_placode	1.55099833
32	MP0004142_abnormal_muscle_tone	1.55003904
33	MP0009046_muscle_twitch	1.52997500
34	MP0001986_abnormal_taste_sensitivity	1.50219162
35	MP0000383_abnormal_hair_follicle	1.47514509
36	MP0003718_maternal_effect	1.47513478
37	MP0001968_abnormal_touch/_nociception	1.47103001
38	MP0000631_abnormal_neuroendocrine_gland	1.45792307
39	MP0005408_hypopigmentation	1.43906712
40	MP0005084_abnormal_gallbladder_morpholo	1.39009760
41	MP0003787_abnormal_imprinting	1.37415104
42	MP0005075_abnormal_melanosome_morpholog	1.37213940
43	MP0009745_abnormal_behavioral_response	1.36585582
44	MP0000015_abnormal_ear_pigmentation	1.35496236
45	MP0001486_abnormal_startle_reflex	1.34679385
46	MP0005377_hearing/vestibular/ear_phenot	1.33594771
47	MP0003878_abnormal_ear_physiology	1.33594771
48	MP0004133_heterotaxia	1.31939255
49	MP0001919_abnormal_reproductive_system	1.24118173
50	MP0003136_yellow_coat_color	1.23747251
51	MP0003567_abnormal_fetal_cardiomyocyte	1.23388038
52	MP0000516_abnormal_urinary_system	1.23341165
53	MP0005367_renal/urinary_system_phenotyp	1.23341165
54	MP0003786_premature_aging	1.21586546
55	MP0001501_abnormal_sleep_pattern	1.19029062
56	MP0002095_abnormal_skin_pigmentation	1.17013776
57	MP0002638_abnormal_pupillary_reflex	1.16927641
58	MP0002736_abnormal_nociception_after	1.14222411
59	MP0004742_abnormal_vestibular_system	1.13577503
60	MP0008057_abnormal_DNA_replication	1.11480243
61	MP0006276_abnormal_autonomic_nervous	1.08891133
62	MP0000647_abnormal_sebaceous_gland	1.07198817
63	MP0002272_abnormal_nervous_system	1.06876917
64	MP0001764_abnormal_homeostasis	1.06641535
65	MP0009780_abnormal_chondrocyte_physiolo	1.04976407
66	MP0005647_abnormal_sex_gland	1.04408372
67	MP0001293_anophthalmia	1.02228332
68	MP0008775_abnormal_heart_ventricle	1.01267908
69	MP0010094_abnormal_chromosome_stability	1.01205756
70	MP0004043_abnormal_pH_regulation	1.00484748
71	MP0002557_abnormal_social/conspecific_i	1.00390389
72	MP0002928_abnormal_bile_duct	0.98833130
73	MP0003937_abnormal_limbs/digits/tail_de	0.97350093
74	MP0005195_abnormal_posterior_eye	0.96072202
75	MP0002735_abnormal_chemical_nociception	0.95930730
76	MP0001944_abnormal_pancreas_morphology	0.93673433
77	MP0001324_abnormal_eye_pigmentation	0.87921566
78	MP0004019_abnormal_vitamin_homeostasis	0.87866240
79	MP0005395_other_phenotype	0.86200992
80	MP0002751_abnormal_autonomic_nervous	0.86098736
81	MP0001529_abnormal_vocalization	0.86047717
82	MP0003693_abnormal_embryo_hatching	0.85902482
83	MP0005391_vision/eye_phenotype	0.85070992
84	MP0004924_abnormal_behavior	0.84379692
85	MP0005386_behavior/neurological_phenoty	0.84379692
86	MP0002064_seizures	0.84359095
87	MP0000653_abnormal_sex_gland	0.83953955
88	MP0003698_abnormal_male_reproductive	0.83674003
89	MP0010678_abnormal_skin_adnexa	0.83412049
90	MP0005332_abnormal_amino_acid	0.82960532
91	MP0010386_abnormal_urinary_bladder	0.82657591
92	MP0003252_abnormal_bile_duct	0.81823948
93	MP0002138_abnormal_hepatobiliary_system	0.81000875
94	MP0003943_abnormal_hepatobiliary_system	0.80959356
95	MP0001984_abnormal_olfaction	0.80814938
96	MP0004147_increased_porphyrin_level	0.80712946
97	MP0002693_abnormal_pancreas_physiology	0.79665170
98	MP0002184_abnormal_innervation	0.79574479
99	MP0002210_abnormal_sex_determination	0.78962106
100	MP0002229_neurodegeneration	0.78946776

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.22160059
2	Pancreatic fibrosis (HP:0100732)	4.14873695
3	Molar tooth sign on MRI (HP:0002419)	4.11249952
4	Abnormality of midbrain morphology (HP:0002418)	4.11249952
5	True hermaphroditism (HP:0010459)	3.84555560
6	Congenital stationary night blindness (HP:0007642)	3.70732006
7	Pendular nystagmus (HP:0012043)	3.50857475
8	Nephronophthisis (HP:0000090)	3.40381515
9	Chronic hepatic failure (HP:0100626)	3.33677897
10	Abnormality of the renal cortex (HP:0011035)	3.24981597
11	Intestinal atresia (HP:0011100)	3.08365320
12	Abnormality of the renal medulla (HP:0100957)	3.07139037
13	Abnormal rod and cone electroretinograms (HP:0008323)	2.82664936
14	Attenuation of retinal blood vessels (HP:0007843)	2.81254554
15	Hyperventilation (HP:0002883)	2.80690160
16	Methylmalonic acidemia (HP:0002912)	2.77906996
17	Cystic liver disease (HP:0006706)	2.77855944
18	Abolished electroretinogram (ERG) (HP:0000550)	2.59996436
19	Gaze-evoked nystagmus (HP:0000640)	2.56878448
20	Renal cortical cysts (HP:0000803)	2.54118624
21	Furrowed tongue (HP:0000221)	2.45833444
22	Increased corneal curvature (HP:0100692)	2.45566927
23	Keratoconus (HP:0000563)	2.45566927
24	Abnormal biliary tract physiology (HP:0012439)	2.43967441
25	Bile duct proliferation (HP:0001408)	2.43967441
26	Thyroiditis (HP:0100646)	2.38994616
27	Hemiparesis (HP:0001269)	2.35532457
28	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.35055413
29	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.33587891
30	Tubular atrophy (HP:0000092)	2.33250111
31	Ketoacidosis (HP:0001993)	2.32700176
32	Abnormality of the nasal septum (HP:0000419)	2.32242610
33	Congenital sensorineural hearing impairment (HP:0008527)	2.30258385
34	Small hand (HP:0200055)	2.28388297
35	Anencephaly (HP:0002323)	2.27504794
36	Chorioretinal atrophy (HP:0000533)	2.23612744
37	Sclerocornea (HP:0000647)	2.22820054
38	Abnormality of the middle phalanges of the toes (HP:0010183)	2.16706914
39	Abnormality of vitamin B metabolism (HP:0004340)	2.15618392
40	Volvulus (HP:0002580)	2.14457062
41	Bony spicule pigmentary retinopathy (HP:0007737)	2.13891458
42	Methylmalonic aciduria (HP:0012120)	2.10824276
43	Hypothermia (HP:0002045)	2.07667038
44	Stomach cancer (HP:0012126)	2.06925964
45	Chromsome breakage (HP:0040012)	2.06668296
46	Polydipsia (HP:0001959)	2.06080764
47	Abnormal drinking behavior (HP:0030082)	2.06080764
48	Gastrointestinal atresia (HP:0002589)	2.05829286
49	Progressive cerebellar ataxia (HP:0002073)	2.05447033
50	Shawl scrotum (HP:0000049)	2.04566215
51	Abnormality of macular pigmentation (HP:0008002)	2.03249433
52	Ketosis (HP:0001946)	1.99160435
53	Abnormality of the ileum (HP:0001549)	1.96854886
54	Large for gestational age (HP:0001520)	1.95602608
55	Hyperglycinemia (HP:0002154)	1.94708858
56	Progressive inability to walk (HP:0002505)	1.94346990
57	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.93776306
58	Meckel diverticulum (HP:0002245)	1.93037739
59	Male pseudohermaphroditism (HP:0000037)	1.92185932
60	Medial flaring of the eyebrow (HP:0010747)	1.91896056
61	Congenital hepatic fibrosis (HP:0002612)	1.89167477
62	Concave nail (HP:0001598)	1.89029738
63	Decreased central vision (HP:0007663)	1.87820250
64	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.85017930
65	Hyperinsulinemic hypoglycemia (HP:0000825)	1.85016777
66	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.84389859
67	Hypoplasia of the uterus (HP:0000013)	1.84309557
68	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.82906274
69	Aplasia/hypoplasia of the uterus (HP:0008684)	1.82861621
70	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.80904898
71	Hypoproteinemia (HP:0003075)	1.80647421
72	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.80213631
73	Severe visual impairment (HP:0001141)	1.79759037
74	Hip dysplasia (HP:0001385)	1.78504676
75	Pancreatic islet-cell hyperplasia (HP:0004510)	1.78284056
76	Hypoplastic iliac wings (HP:0002866)	1.76001145
77	Broad-based gait (HP:0002136)	1.75954894
78	Dialeptic seizures (HP:0011146)	1.75179459
79	Abnormality of vitamin metabolism (HP:0100508)	1.73433972
80	Short hallux (HP:0010109)	1.72807227
81	Tubulointerstitial abnormality (HP:0001969)	1.72643736
82	Febrile seizures (HP:0002373)	1.72524084
83	Hamartoma of the eye (HP:0010568)	1.71597870
84	Fatigable weakness (HP:0003473)	1.70050097
85	Abnormality of the neuromuscular junction (HP:0003398)	1.70050097
86	Polyuria (HP:0000103)	1.70013282
87	Genetic anticipation (HP:0003743)	1.69571056
88	Inability to walk (HP:0002540)	1.69245743
89	Epidermoid cyst (HP:0200040)	1.68731613
90	Highly arched eyebrow (HP:0002553)	1.67499041
91	Oculomotor apraxia (HP:0000657)	1.67407273
92	Abnormality of endocrine pancreas physiology (HP:0012093)	1.66147088
93	Abnormality of the pancreatic islet cells (HP:0006476)	1.66147088
94	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.65601061
95	Neoplasm of the adrenal cortex (HP:0100641)	1.65505473
96	Aplasia/Hypoplasia of the hallux (HP:0008362)	1.65294641
97	Sloping forehead (HP:0000340)	1.64943010
98	Type II lissencephaly (HP:0007260)	1.64887260
99	Supernumerary spleens (HP:0009799)	1.63517736
100	Preaxial hand polydactyly (HP:0001177)	1.63303477

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.08526095
2	BMPR1B	2.95597799
3	MAP4K2	2.81867602
4	NUAK1	2.77500946
5	ADRBK2	2.71955862
6	INSRR	2.54019053
7	GRK1	2.41690791
8	WNK3	2.39307144
9	ACVR1B	2.05793839
10	TNIK	1.96700700
11	MKNK2	1.92648495
12	PINK1	1.83385682
13	MST4	1.83271372
14	ZAK	1.81414354
15	PNCK	1.71470506
16	OXSR1	1.68467382
17	FGFR2	1.68455037
18	STK39	1.67212569
19	WEE1	1.59784713
20	EIF2AK3	1.58751623
21	PLK2	1.46790813
22	WNK4	1.45560473
23	MAPK13	1.40735510
24	MAPKAPK3	1.36206862
25	MUSK	1.23641452
26	STK3	1.22290372
27	AKT3	1.19965547
28	STK16	1.18699616
29	PLK3	1.18292127
30	FLT3	1.16403827
31	PAK3	1.16274553
32	NLK	1.12146630
33	CASK	1.07651847
34	NTRK3	1.06795926
35	PRKCE	1.04023271
36	TRIM28	0.98225964
37	BRSK2	0.96924406
38	FER	0.94290569
39	TLK1	0.89841008
40	DAPK2	0.89071447
41	LATS1	0.88466027
42	PDK2	0.84607311
43	VRK1	0.83970690
44	STK38L	0.83007903
45	MKNK1	0.82001779
46	ADRBK1	0.81921103
47	DYRK2	0.80853168
48	CSNK1G1	0.79530233
49	PLK4	0.74423041
50	TGFBR1	0.73992528
51	NEK1	0.72620469
52	TXK	0.70666027
53	BUB1	0.68787983
54	ERBB3	0.64885876
55	FGFR3	0.64556231
56	PRKCG	0.64295826
57	PRKCI	0.62318019
58	PRKAA1	0.61996795
59	CAMK1G	0.56893972
60	FGFR1	0.56631435
61	CSNK1G2	0.56551260
62	MARK1	0.56093361
63	IKBKB	0.54282273
64	PRKCH	0.51317229
65	TSSK6	0.49483516
66	ATM	0.48868019
67	STK11	0.48477923
68	PLK1	0.47547027
69	STK24	0.47015471
70	CCNB1	0.46840985
71	ATR	0.46638742
72	TEC	0.46580649
73	CSNK1A1	0.45741229
74	PTK2B	0.44963772
75	CDK3	0.43660660
76	PHKG2	0.42019384
77	PHKG1	0.42019384
78	MAP2K6	0.41370205
79	PBK	0.41299956
80	DYRK3	0.41131536
81	PIK3CA	0.40739723
82	CSNK1G3	0.39526231
83	TNK2	0.38812732
84	VRK2	0.38803317
85	SRPK1	0.38355406
86	EIF2AK1	0.37869561
87	SGK2	0.37400623
88	CAMK2A	0.37210135
89	PRKACA	0.36105306
90	GRK5	0.35549613
91	IRAK1	0.35314503
92	PRKAA2	0.35309638
93	NEK2	0.34696777
94	MAP3K7	0.34459309
95	MAP3K4	0.34387385
96	DAPK1	0.34260672
97	MELK	0.33810614
98	CSNK1A1L	0.33528475
99	MAP2K1	0.32574257
100	CHEK2	0.31682682

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.71846946
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.64410151
3	Caffeine metabolism_Homo sapiens_hsa00232	2.52861151
4	Butanoate metabolism_Homo sapiens_hsa00650	2.39228515
5	Phototransduction_Homo sapiens_hsa04744	2.37872821
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.36114305
7	Homologous recombination_Homo sapiens_hsa03440	2.27430267
8	Sulfur metabolism_Homo sapiens_hsa00920	2.27055152
9	Selenocompound metabolism_Homo sapiens_hsa00450	2.24069816
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.19459146
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.19043522
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.05705111
13	Protein export_Homo sapiens_hsa03060	1.95947940
14	Linoleic acid metabolism_Homo sapiens_hsa00591	1.95579609
15	RNA polymerase_Homo sapiens_hsa03020	1.87960213
16	Propanoate metabolism_Homo sapiens_hsa00640	1.87084786
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.78574132
18	One carbon pool by folate_Homo sapiens_hsa00670	1.75018762
19	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.71461958
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.69391801
21	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.69239839
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.69036637
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.66550211
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.64727732
25	Ether lipid metabolism_Homo sapiens_hsa00565	1.58429886
26	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.58256953
27	RNA degradation_Homo sapiens_hsa03018	1.53256740
28	Non-homologous end-joining_Homo sapiens_hsa03450	1.48842127
29	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.48263416
30	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.47212310
31	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.44472822
32	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.42666434
33	Retinol metabolism_Homo sapiens_hsa00830	1.40584442
34	Chemical carcinogenesis_Homo sapiens_hsa05204	1.40524454
35	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.39451501
36	Basal transcription factors_Homo sapiens_hsa03022	1.35326274
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.33275479
38	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.29140867
39	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.26500590
40	Nicotine addiction_Homo sapiens_hsa05033	1.23211122
41	Taste transduction_Homo sapiens_hsa04742	1.20946764
42	Insulin secretion_Homo sapiens_hsa04911	1.15890480
43	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.13882917
44	Glycerolipid metabolism_Homo sapiens_hsa00561	1.08631494
45	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.06261107
46	Circadian rhythm_Homo sapiens_hsa04710	1.05100910
47	Olfactory transduction_Homo sapiens_hsa04740	0.99358988
48	Steroid biosynthesis_Homo sapiens_hsa00100	0.97400772
49	Oxidative phosphorylation_Homo sapiens_hsa00190	0.96836998
50	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.95708093
51	Fat digestion and absorption_Homo sapiens_hsa04975	0.91681591
52	ABC transporters_Homo sapiens_hsa02010	0.89494984
53	Peroxisome_Homo sapiens_hsa04146	0.85768944
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.81303740
55	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.81123016
56	Circadian entrainment_Homo sapiens_hsa04713	0.76010201
57	Purine metabolism_Homo sapiens_hsa00230	0.75812363
58	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.75742230
59	Morphine addiction_Homo sapiens_hsa05032	0.75473066
60	RNA transport_Homo sapiens_hsa03013	0.73349107
61	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.70582052
62	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.70138929
63	Nucleotide excision repair_Homo sapiens_hsa03420	0.68932279
64	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.68602547
65	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.67430281
66	Fatty acid degradation_Homo sapiens_hsa00071	0.67392570
67	beta-Alanine metabolism_Homo sapiens_hsa00410	0.67166449
68	Metabolic pathways_Homo sapiens_hsa01100	0.64949593
69	Glutamatergic synapse_Homo sapiens_hsa04724	0.63696031
70	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.61030393
71	Parkinsons disease_Homo sapiens_hsa05012	0.60146952
72	Regulation of autophagy_Homo sapiens_hsa04140	0.59522060
73	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.58712844
74	Serotonergic synapse_Homo sapiens_hsa04726	0.58482065
75	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.57060863
76	Salivary secretion_Homo sapiens_hsa04970	0.56828432
77	Histidine metabolism_Homo sapiens_hsa00340	0.55720134
78	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.55561315
79	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.54789778
80	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.54391392
81	Primary immunodeficiency_Homo sapiens_hsa05340	0.53004267
82	Proteasome_Homo sapiens_hsa03050	0.51291637
83	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.50571356
84	Mineral absorption_Homo sapiens_hsa04978	0.49336844
85	GABAergic synapse_Homo sapiens_hsa04727	0.49303421
86	Calcium signaling pathway_Homo sapiens_hsa04020	0.46811682
87	Collecting duct acid secretion_Homo sapiens_hsa04966	0.46676002
88	Lysine degradation_Homo sapiens_hsa00310	0.45958116
89	Pyrimidine metabolism_Homo sapiens_hsa00240	0.42126002
90	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.41501052
91	Fatty acid metabolism_Homo sapiens_hsa01212	0.37315048
92	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.36821316
93	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.35615228
94	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.34458514
95	Dopaminergic synapse_Homo sapiens_hsa04728	0.34445182
96	Base excision repair_Homo sapiens_hsa03410	0.34219329
97	Mismatch repair_Homo sapiens_hsa03430	0.34025204
98	Sulfur relay system_Homo sapiens_hsa04122	0.32404883
99	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.31755643
100	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.31601566

NCLP1

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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