ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	gamma-aminobutyric acid transport (GO:0015812)	7.31006832
2	protein-cofactor linkage (GO:0018065)	6.12946300
3	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	6.10207323
4	cellular biogenic amine catabolic process (GO:0042402)	5.25143029
5	amine catabolic process (GO:0009310)	5.25143029
6	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	5.17421915
7	polyamine metabolic process (GO:0006595)	5.14694784
8	amino acid salvage (GO:0043102)	5.11165240
9	L-methionine salvage (GO:0071267)	5.11165240
10	L-methionine biosynthetic process (GO:0071265)	5.11165240
11	cell migration in hindbrain (GO:0021535)	4.61311232
12	glycine transport (GO:0015816)	4.52635879
13	pyrimidine nucleobase catabolic process (GO:0006208)	4.44339109
14	ribonucleoprotein complex disassembly (GO:0032988)	4.39267629
15	artery smooth muscle contraction (GO:0014824)	4.20153388
16	oligosaccharide biosynthetic process (GO:0009312)	4.07567363
17	glyoxylate metabolic process (GO:0046487)	4.00927394
18	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	3.98751885
19	negative regulation of axonogenesis (GO:0050771)	3.82390025
20	nonmotile primary cilium assembly (GO:0035058)	3.80125018
21	blastocyst development (GO:0001824)	3.78006986
22	polyketide metabolic process (GO:0030638)	3.77380251
23	doxorubicin metabolic process (GO:0044598)	3.77380251
24	daunorubicin metabolic process (GO:0044597)	3.77380251
25	telomere maintenance via semi-conservative replication (GO:0032201)	3.76907078
26	organelle disassembly (GO:1903008)	3.75551311
27	L-serine transport (GO:0015825)	3.71483074
28	nucleobase catabolic process (GO:0046113)	3.70655831
29	water-soluble vitamin biosynthetic process (GO:0042364)	3.70422655
30	glycosphingolipid biosynthetic process (GO:0006688)	3.69581020
31	respiratory system process (GO:0003016)	3.67714414
32	establishment of mitochondrion localization (GO:0051654)	3.53116812
33	norepinephrine metabolic process (GO:0042415)	3.51425125
34	tonic smooth muscle contraction (GO:0014820)	3.46424006
35	keratinocyte development (GO:0003334)	3.43216482
36	long term synaptic depression (GO:0060292)	3.40227582
37	proteasome assembly (GO:0043248)	3.37056659
38	positive regulation of potassium ion transmembrane transport (GO:1901381)	3.34064312
39	aminoglycoside antibiotic metabolic process (GO:0030647)	3.33050753
40	cytokinetic process (GO:0032506)	3.29892118
41	ubiquinone metabolic process (GO:0006743)	3.28264173
42	negative regulation of DNA-templated transcription, elongation (GO:0032785)	3.26717555
43	regulation of cilium movement (GO:0003352)	3.25931214
44	serine family amino acid catabolic process (GO:0009071)	3.25210940
45	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	3.25032606
46	ubiquinone biosynthetic process (GO:0006744)	3.24294975
47	negative regulation of transcription by competitive promoter binding (GO:0010944)	3.24289379
48	positive regulation of mitochondrial fission (GO:0090141)	3.23654066
49	DNA replication initiation (GO:0006270)	3.20295776
50	phenylpropanoid metabolic process (GO:0009698)	3.16388056
51	methionine biosynthetic process (GO:0009086)	3.14433022
52	protein K63-linked ubiquitination (GO:0070534)	3.13277621
53	axon extension (GO:0048675)	3.11528923
54	ATP hydrolysis coupled proton transport (GO:0015991)	3.09310600
55	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	3.09310600
56	serine transport (GO:0032329)	3.06571095
57	regulation of sequestering of triglyceride (GO:0010889)	3.02854946
58	regulation of collateral sprouting (GO:0048670)	3.01854799
59	acetyl-CoA metabolic process (GO:0006084)	3.01429603
60	epithelial cell differentiation involved in kidney development (GO:0035850)	3.00901820
61	cornea development in camera-type eye (GO:0061303)	3.00115292
62	cholesterol biosynthetic process (GO:0006695)	2.99284404
63	telomere maintenance via recombination (GO:0000722)	2.93992240
64	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.93715314
65	negative regulation of receptor activity (GO:2000272)	2.93535482
66	neutral amino acid transport (GO:0015804)	2.92655812
67	sulfur amino acid biosynthetic process (GO:0000097)	2.91582738
68	L-phenylalanine metabolic process (GO:0006558)	2.90347613
69	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.90347613
70	xenobiotic catabolic process (GO:0042178)	2.90071395
71	negative regulation of telomere maintenance (GO:0032205)	2.89324216
72	sterol biosynthetic process (GO:0016126)	2.87545671
73	methionine metabolic process (GO:0006555)	2.84650182
74	prostaglandin metabolic process (GO:0006693)	2.84607969
75	prostanoid metabolic process (GO:0006692)	2.84607969
76	basic amino acid transport (GO:0015802)	2.84604002
77	regulation of triglyceride catabolic process (GO:0010896)	2.84219744
78	DNA deamination (GO:0045006)	2.83285384
79	protein deneddylation (GO:0000338)	2.79705356
80	NADH metabolic process (GO:0006734)	2.79551393
81	aspartate family amino acid biosynthetic process (GO:0009067)	2.78736366
82	neuron projection extension (GO:1990138)	2.77181430
83	chaperone-mediated protein transport (GO:0072321)	2.75664682
84	iron coordination entity transport (GO:1901678)	2.75518115
85	otic vesicle formation (GO:0030916)	2.74168130
86	telomere maintenance via telomere lengthening (GO:0010833)	2.73924915
87	cellular potassium ion homeostasis (GO:0030007)	2.73131494
88	coenzyme catabolic process (GO:0009109)	2.72873126
89	oxaloacetate metabolic process (GO:0006107)	2.72036434
90	detection of light stimulus involved in sensory perception (GO:0050962)	2.71053516
91	detection of light stimulus involved in visual perception (GO:0050908)	2.71053516
92	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.70518085
93	L-serine metabolic process (GO:0006563)	2.69930293
94	iron-sulfur cluster assembly (GO:0016226)	2.67647877
95	metallo-sulfur cluster assembly (GO:0031163)	2.67647877
96	calcium-mediated signaling using intracellular calcium source (GO:0035584)	2.67598565
97	cullin deneddylation (GO:0010388)	2.66685035
98	axonal fasciculation (GO:0007413)	2.65476959
99	synaptic vesicle endocytosis (GO:0048488)	2.65106484
100	transferrin transport (GO:0033572)	2.64835129

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	6.25998277
2	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	4.40029331
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.26236139
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.08531789
5	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.97284585
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.80468973
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.55084535
8	VDR_22108803_ChIP-Seq_LS180_Human	2.49071812
9	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.33622195
10	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.31574692
11	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.30946364
12	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.30541578
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.27822887
14	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.20076656
15	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.15000566
16	TAF15_26573619_Chip-Seq_HEK293_Human	2.00882073
17	RNF2_27304074_Chip-Seq_NSC_Mouse	1.97506295
18	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.94879535
19	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.89255787
20	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.82811063
21	REST_21632747_ChIP-Seq_MESCs_Mouse	1.73114514
22	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.63973440
23	GABP_19822575_ChIP-Seq_HepG2_Human	1.61838406
24	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.56029754
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.55650401
26	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.53261024
27	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.52704443
28	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	1.48305518
29	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.45105155
30	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.43944054
31	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.43603761
32	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.43073893
33	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.41761985
34	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.40518124
35	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.39118597
36	TTF2_22483619_ChIP-Seq_HELA_Human	1.37822895
37	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.34808157
38	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.32327793
39	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.31985282
40	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.29608479
41	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.25722663
42	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.24458411
43	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.24064280
44	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.24064280
45	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.23307785
46	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.20525019
47	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.19931766
48	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.17703900
49	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.16481860
50	NANOG_18358816_ChIP-ChIP_MESCs_Mouse	1.15052837
51	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.14813939
52	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.14231860
53	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.13569018
54	AR_20517297_ChIP-Seq_VCAP_Human	1.12040659
55	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.10582082
56	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.09961785
57	OCT4_18692474_ChIP-Seq_MEFs_Mouse	1.08041434
58	NCOR_22424771_ChIP-Seq_293T_Human	1.07534395
59	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.07466339
60	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.06944201
61	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.05019940
62	AR_21909140_ChIP-Seq_LNCAP_Human	1.04178099
63	CBP_20019798_ChIP-Seq_JUKART_Human	1.01837042
64	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01837042
65	POU5F1_16518401_ChIP-PET_MESCs_Mouse	0.97632075
66	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.96490420
67	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.96150971
68	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.95899272
69	AHR_22903824_ChIP-Seq_MCF-7_Human	0.95647689
70	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.93848530
71	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.93280275
72	EOMES_21245162_ChIP-Seq_HESCs_Human	0.92689198
73	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.92629334
74	VDR_23849224_ChIP-Seq_CD4+_Human	0.91339292
75	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.89758820
76	SOX2_18692474_ChIP-Seq_MEFs_Mouse	0.86468311
77	POU5F1_18692474_ChIP-Seq_MESCs_Mouse	0.86197988
78	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	0.85836943
79	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	0.84421559
80	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	0.83548770
81	ERA_21632823_ChIP-Seq_H3396_Human	0.82178969
82	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	0.82037868
83	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	0.81767771
84	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.80664304
85	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.80655218
86	DCP1A_22483619_ChIP-Seq_HELA_Human	0.80602272
87	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.80594111
88	SMAD1_18555785_ChIP-Seq_MESCs_Mouse	0.80572597
89	P300_19829295_ChIP-Seq_ESCs_Human	0.80142308
90	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.79770018
91	ZNF274_21170338_ChIP-Seq_K562_Hela	0.79620276
92	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	0.78978070
93	IRF1_19129219_ChIP-ChIP_H3396_Human	0.78305874
94	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.78246308
95	FOXP3_21729870_ChIP-Seq_TREG_Human	0.78239398
96	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.76881105
97	NANOG_18692474_ChIP-Seq_MEFs_Mouse	0.76253709
98	PHF8_20622854_ChIP-Seq_HELA_Human	0.76144854
99	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.74591121
100	TP53_22573176_ChIP-Seq_HFKS_Human	0.73761995

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004858_abnormal_nervous_system	8.88544351
2	MP0002139_abnormal_hepatobiliary_system	4.13632988
3	MP0004142_abnormal_muscle_tone	4.06088641
4	MP0002138_abnormal_hepatobiliary_system	3.87896496
5	MP0003122_maternal_imprinting	3.70478353
6	MP0005423_abnormal_somatic_nervous	3.08798715
7	MP0002876_abnormal_thyroid_physiology	2.57073507
8	MP0001188_hyperpigmentation	2.46331631
9	MP0009046_muscle_twitch	2.41215618
10	MP0005365_abnormal_bile_salt	2.23334997
11	MP0000372_irregular_coat_pigmentation	2.20910533
12	MP0001984_abnormal_olfaction	2.17520413
13	MP0003868_abnormal_feces_composition	2.16385145
14	MP0006276_abnormal_autonomic_nervous	2.14902070
15	MP0003075_altered_response_to	2.12939093
16	MP0000013_abnormal_adipose_tissue	2.11840876
17	MP0003121_genomic_imprinting	2.05972013
18	MP0004859_abnormal_synaptic_plasticity	2.04957510
19	MP0005084_abnormal_gallbladder_morpholo	1.98309105
20	MP0001529_abnormal_vocalization	1.83396677
21	MP0008058_abnormal_DNA_repair	1.80237348
22	MP0003880_abnormal_central_pattern	1.73993035
23	MP0001440_abnormal_grooming_behavior	1.61255521
24	MP0008260_abnormal_autophagy	1.60573587
25	MP0002277_abnormal_respiratory_mucosa	1.55519117
26	MP0009840_abnormal_foam_cell	1.51609114
27	MP0002572_abnormal_emotion/affect_behav	1.49986271
28	MP0002928_abnormal_bile_duct	1.49764434
29	MP0008789_abnormal_olfactory_epithelium	1.49640023
30	MP0006035_abnormal_mitochondrial_morpho	1.47212431
31	MP0001764_abnormal_homeostasis	1.44134477
32	MP0010386_abnormal_urinary_bladder	1.38120683
33	MP0002272_abnormal_nervous_system	1.37087831
34	MP0003806_abnormal_nucleotide_metabolis	1.32893355
35	MP0003879_abnormal_hair_cell	1.32485572
36	MP0002184_abnormal_innervation	1.30975103
37	MP0008875_abnormal_xenobiotic_pharmacok	1.29513906
38	MP0002102_abnormal_ear_morphology	1.28543052
39	MP0005360_urolithiasis	1.28103945
40	MP0008877_abnormal_DNA_methylation	1.25658227
41	MP0002063_abnormal_learning/memory/cond	1.24975600
42	MP0003828_pulmonary_edema	1.21901225
43	MP0001986_abnormal_taste_sensitivity	1.20969532
44	MP0003635_abnormal_synaptic_transmissio	1.17960781
45	MP0003011_delayed_dark_adaptation	1.17830088
46	MP0004924_abnormal_behavior	1.16458324
47	MP0005386_behavior/neurological_phenoty	1.16458324
48	MP0000003_abnormal_adipose_tissue	1.16376408
49	MP0000569_abnormal_digit_pigmentation	1.13770992
50	MP0000647_abnormal_sebaceous_gland	1.13088641
51	MP0005499_abnormal_olfactory_system	1.12964424
52	MP0005394_taste/olfaction_phenotype	1.12964424
53	MP0005083_abnormal_biliary_tract	1.10000895
54	MP0005551_abnormal_eye_electrophysiolog	1.09285697
55	MP0010234_abnormal_vibrissa_follicle	1.07564429
56	MP0002735_abnormal_chemical_nociception	1.07187025
57	MP0005075_abnormal_melanosome_morpholog	1.06833345
58	MP0002736_abnormal_nociception_after	1.06055830
59	MP0002233_abnormal_nose_morphology	1.01959461
60	MP0001324_abnormal_eye_pigmentation	1.00657682
61	MP0005636_abnormal_mineral_homeostasis	1.00575578
62	MP0003787_abnormal_imprinting	0.97239664
63	MP0003186_abnormal_redox_activity	0.92788316
64	MP0005085_abnormal_gallbladder_physiolo	0.90419027
65	MP0001666_abnormal_nutrient_absorption	0.90327626
66	MP0005646_abnormal_pituitary_gland	0.89855248
67	MP0003950_abnormal_plasma_membrane	0.88818638
68	MP0005645_abnormal_hypothalamus_physiol	0.88329746
69	MP0010329_abnormal_lipoprotein_level	0.83195132
70	MP0005187_abnormal_penis_morphology	0.81474931
71	MP0001968_abnormal_touch/_nociception	0.80726479
72	MP0004264_abnormal_extraembryonic_tissu	0.80220882
73	MP0002557_abnormal_social/conspecific_i	0.77677502
74	MP0009745_abnormal_behavioral_response	0.76928100
75	MP0002064_seizures	0.76492035
76	MP0003567_abnormal_fetal_cardiomyocyte	0.76278124
77	MP0002066_abnormal_motor_capabilities/c	0.74632210
78	MP0003136_yellow_coat_color	0.72559393
79	MP0009697_abnormal_copulation	0.70605997
80	MP0000538_abnormal_urinary_bladder	0.70491854
81	MP0002882_abnormal_neuron_morphology	0.67629751
82	MP0003137_abnormal_impulse_conducting	0.66259407
83	MP0004811_abnormal_neuron_physiology	0.64783475
84	MP0005408_hypopigmentation	0.64414569
85	MP0002734_abnormal_mechanical_nocicepti	0.63204243
86	MP0008770_decreased_survivor_rate	0.62622797
87	MP0000358_abnormal_cell_content/	0.62045023
88	MP0010094_abnormal_chromosome_stability	0.61698967
89	MP0004019_abnormal_vitamin_homeostasis	0.61085684
90	MP0001853_heart_inflammation	0.60981358
91	MP0002229_neurodegeneration	0.60273758
92	MP0001486_abnormal_startle_reflex	0.60203520
93	MP0008872_abnormal_physiological_respon	0.59378968
94	MP0003890_abnormal_embryonic-extraembry	0.59015816
95	MP0001970_abnormal_pain_threshold	0.58999065
96	MP0002118_abnormal_lipid_homeostasis	0.57536955
97	MP0001905_abnormal_dopamine_level	0.55712632
98	MP0003195_calcinosis	0.54122104
99	MP0000462_abnormal_digestive_system	0.52755549
100	MP0003638_abnormal_response/metabolism_	0.51192458

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Failure to thrive in infancy (HP:0001531)	7.57162805
2	Abnormality of the labia minora (HP:0012880)	6.77895295
3	Poor suck (HP:0002033)	5.98494694
4	Oligomenorrhea (HP:0000876)	5.76540939
5	Abnormal hair whorl (HP:0010721)	5.43925918
6	Polyphagia (HP:0002591)	5.29719542
7	Gait imbalance (HP:0002141)	4.02456210
8	True hermaphroditism (HP:0010459)	3.69496586
9	Congenital primary aphakia (HP:0007707)	3.59209923
10	Medial flaring of the eyebrow (HP:0010747)	3.49988721
11	Hip dysplasia (HP:0001385)	3.35058641
12	Limb dystonia (HP:0002451)	3.30890292
13	Pancreatic cysts (HP:0001737)	3.29135914
14	Pancreatic fibrosis (HP:0100732)	3.27897809
15	Atonic seizures (HP:0010819)	3.19658254
16	Acute necrotizing encephalopathy (HP:0006965)	3.13254015
17	Nephrogenic diabetes insipidus (HP:0009806)	3.10523005
18	Poor coordination (HP:0002370)	3.07170771
19	Abnormal mitochondria in muscle tissue (HP:0008316)	3.05603887
20	Epileptic encephalopathy (HP:0200134)	3.03090320
21	Specific learning disability (HP:0001328)	3.01186300
22	Cerebral hypomyelination (HP:0006808)	2.90767008
23	Acute encephalopathy (HP:0006846)	2.83427295
24	Generalized hypotonia (HP:0001290)	2.79054104
25	Decreased muscle mass (HP:0003199)	2.77932990
26	Molar tooth sign on MRI (HP:0002419)	2.76326763
27	Abnormality of midbrain morphology (HP:0002418)	2.76326763
28	Microvesicular hepatic steatosis (HP:0001414)	2.75381247
29	Myokymia (HP:0002411)	2.73200487
30	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.69135121
31	Delusions (HP:0000746)	2.59378012
32	Progressive macrocephaly (HP:0004481)	2.59339628
33	Sclerocornea (HP:0000647)	2.57690804
34	Sleep apnea (HP:0010535)	2.56896976
35	Vaginal atresia (HP:0000148)	2.52357717
36	Increased CSF lactate (HP:0002490)	2.51282259
37	Sensorimotor neuropathy (HP:0007141)	2.49080644
38	Cystic liver disease (HP:0006706)	2.48535004
39	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.46634584
40	Abnormal eating behavior (HP:0100738)	2.45375011
41	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.45126713
42	Abnormality of alanine metabolism (HP:0010916)	2.45126713
43	Hyperalaninemia (HP:0003348)	2.45126713
44	Cerebral edema (HP:0002181)	2.43320661
45	Global brain atrophy (HP:0002283)	2.41830161
46	Abnormal protein glycosylation (HP:0012346)	2.40004395
47	Abnormal glycosylation (HP:0012345)	2.40004395
48	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.40004395
49	Abnormal protein N-linked glycosylation (HP:0012347)	2.40004395
50	Nasal speech (HP:0001611)	2.39738049
51	Generalized hypopigmentation (HP:0007513)	2.39667509
52	Scrotal hypoplasia (HP:0000046)	2.39441480
53	Progressive cerebellar ataxia (HP:0002073)	2.39041093
54	Status epilepticus (HP:0002133)	2.39008131
55	Labial hypoplasia (HP:0000066)	2.36874418
56	Febrile seizures (HP:0002373)	2.35250310
57	Urinary urgency (HP:0000012)	2.32875376
58	Genital tract atresia (HP:0001827)	2.32834331
59	CNS hypomyelination (HP:0003429)	2.32654504
60	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.26225368
61	Dyskinesia (HP:0100660)	2.26148310
62	Absent speech (HP:0001344)	2.24412514
63	Narrow nasal bridge (HP:0000446)	2.23788686
64	Shoulder girdle muscle weakness (HP:0003547)	2.23654264
65	Hypoplastic female external genitalia (HP:0012815)	2.23597827
66	Congenital stationary night blindness (HP:0007642)	2.21236476
67	Increased serum lactate (HP:0002151)	2.14633153
68	Mitochondrial inheritance (HP:0001427)	2.09035983
69	Lethargy (HP:0001254)	2.07986351
70	Absence seizures (HP:0002121)	2.05369171
71	Lipid accumulation in hepatocytes (HP:0006561)	1.94708012
72	Progressive microcephaly (HP:0000253)	1.92722843
73	Cutaneous photosensitivity (HP:0000992)	1.92598114
74	Septate vagina (HP:0001153)	1.92397998
75	Abnormality of the labia (HP:0000058)	1.91494207
76	Pelvic girdle muscle weakness (HP:0003749)	1.91228935
77	Morphological abnormality of the pyramidal tract (HP:0002062)	1.89514920
78	Decreased subcutaneous fat (HP:0001002)	1.83695419
79	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.82443209
80	Dysdiadochokinesis (HP:0002075)	1.81927225
81	Anencephaly (HP:0002323)	1.81912772
82	Hypoventilation (HP:0002791)	1.81628074
83	Mutism (HP:0002300)	1.80907452
84	Abnormal gallbladder physiology (HP:0012438)	1.80556934
85	Cholecystitis (HP:0001082)	1.80556934
86	Renal cortical cysts (HP:0000803)	1.80472953
87	Spastic tetraplegia (HP:0002510)	1.80279147
88	Action tremor (HP:0002345)	1.78929565
89	Nephronophthisis (HP:0000090)	1.78259312
90	Furrowed tongue (HP:0000221)	1.77076999
91	Rimmed vacuoles (HP:0003805)	1.75167550
92	Narrow forehead (HP:0000341)	1.71519930
93	Abnormality of the musculature of the pelvis (HP:0001469)	1.70291345
94	Abnormality of the hip-girdle musculature (HP:0001445)	1.70291345
95	Delayed puberty (HP:0000823)	1.69414647
96	Abnormality of serum amino acid levels (HP:0003112)	1.69255701
97	Focal motor seizures (HP:0011153)	1.69066485
98	Postaxial foot polydactyly (HP:0001830)	1.68608922
99	Abnormality of the clitoris (HP:0000056)	1.67821878
100	Hypogonadotrophic hypogonadism (HP:0000044)	1.67389214

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K12	6.08667422
2	MAPK13	3.99306207
3	PINK1	3.32357809
4	TNIK	3.15871149
5	LMTK2	2.89914647
6	CDK19	2.87046436
7	MAP3K11	2.65028852
8	MARK1	2.38118780
9	PDK2	2.35144762
10	STK39	2.34155183
11	ARAF	2.29209898
12	OXSR1	2.25400550
13	DYRK2	2.17989846
14	SRPK1	1.95002001
15	PRKCG	1.89615449
16	TESK1	1.75113894
17	CCNB1	1.69638550
18	PRKD3	1.62682990
19	CAMK1	1.60618558
20	EPHA2	1.58136729
21	PHKG1	1.48372538
22	PHKG2	1.48372538
23	MAP3K9	1.47800993
24	LIMK1	1.46571256
25	TSSK6	1.41317990
26	DAPK1	1.39703718
27	CDC7	1.30036830
28	ZAK	1.26568133
29	STK38L	1.26426484
30	PRKCI	1.23284144
31	MST4	1.18086080
32	STK16	1.16016867
33	CASK	1.15581032
34	ILK	1.15109405
35	TESK2	1.14572854
36	MYLK	1.11244090
37	EIF2AK1	1.05485230
38	WNK4	1.05081377
39	UHMK1	1.03471229
40	GRK1	1.01679197
41	PRKCQ	0.99316473
42	PRKCZ	0.96058298
43	ABL2	0.93428429
44	TRIM28	0.93372954
45	TAOK3	0.90983698
46	CDK18	0.90685405
47	CDK11A	0.88882060
48	CDK15	0.86136422
49	PRKG2	0.85343042
50	SIK3	0.79484266
51	RPS6KB2	0.78522878
52	CAMK2B	0.77420119
53	PBK	0.77300713
54	CDK14	0.72117750
55	AKT2	0.70005872
56	BRAF	0.65960248
57	ERBB4	0.65240811
58	NEK1	0.63903325
59	VRK2	0.60028432
60	ROCK2	0.55001057
61	DAPK3	0.54807327
62	PRKACB	0.54742361
63	PRKAA1	0.54733788
64	TLK1	0.53704505
65	EPHA3	0.53572093
66	CAMK2A	0.53007569
67	RPS6KA2	0.52444352
68	DYRK1A	0.51158074
69	PRKCD	0.51092774
70	CAMK4	0.50955375
71	CDK5	0.49801333
72	PRKCE	0.48734503
73	NME1	0.47589777
74	RPS6KA5	0.46760745
75	PRKD1	0.46058740
76	PLK1	0.45090370
77	MKNK2	0.43938925
78	ERBB3	0.42608456
79	MINK1	0.42529471
80	PLK2	0.40386321
81	KDR	0.40386148
82	CSNK1A1	0.40165527
83	PIM2	0.40137346
84	BUB1	0.39765305
85	MAP3K13	0.39585263
86	CSNK2A1	0.39016181
87	PRKCA	0.37902427
88	CSNK1G3	0.35866614
89	PRKG1	0.34859190
90	LRRK2	0.34835750
91	PIK3CG	0.34439116
92	CAMK2G	0.34330830
93	TTK	0.33953872
94	PRKACA	0.32620333
95	NME2	0.32567813
96	STK10	0.32462545
97	CSNK1D	0.32435044
98	PAK1	0.30879461
99	DYRK3	0.28836034
100	PKN1	0.28576552

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Sulfur relay system_Homo sapiens_hsa04122	4.15921903
2	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.64542677
3	Steroid biosynthesis_Homo sapiens_hsa00100	3.06921297
4	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.57350273
5	Collecting duct acid secretion_Homo sapiens_hsa04966	2.54076423
6	Oxidative phosphorylation_Homo sapiens_hsa00190	2.29462717
7	DNA replication_Homo sapiens_hsa03030	2.24437542
8	Cysteine and methionine metabolism_Homo sapiens_hsa00270	2.21874516
9	Proteasome_Homo sapiens_hsa03050	2.11214894
10	Vibrio cholerae infection_Homo sapiens_hsa05110	2.05574949
11	Fatty acid elongation_Homo sapiens_hsa00062	1.90069924
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.88582539
13	Nicotine addiction_Homo sapiens_hsa05033	1.81221468
14	Pyruvate metabolism_Homo sapiens_hsa00620	1.79791944
15	Protein export_Homo sapiens_hsa03060	1.79137570
16	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.78263866
17	Parkinsons disease_Homo sapiens_hsa05012	1.75324893
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.74427917
19	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.61006219
20	beta-Alanine metabolism_Homo sapiens_hsa00410	1.58679116
21	One carbon pool by folate_Homo sapiens_hsa00670	1.54738495
22	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.54015511
23	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.50743155
24	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.49255009
25	Sulfur metabolism_Homo sapiens_hsa00920	1.40584489
26	Pyrimidine metabolism_Homo sapiens_hsa00240	1.40154357
27	Arginine and proline metabolism_Homo sapiens_hsa00330	1.39879483
28	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.39532921
29	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.37524420
30	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.30931492
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.30490315
32	Butanoate metabolism_Homo sapiens_hsa00650	1.29750520
33	Propanoate metabolism_Homo sapiens_hsa00640	1.28973975
34	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.27800530
35	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.20983654
36	Folate biosynthesis_Homo sapiens_hsa00790	1.17750394
37	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.17380454
38	Chemical carcinogenesis_Homo sapiens_hsa05204	1.12920713
39	Cardiac muscle contraction_Homo sapiens_hsa04260	1.10688555
40	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.09428947
41	Retinol metabolism_Homo sapiens_hsa00830	1.08461004
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.00637707
43	RNA polymerase_Homo sapiens_hsa03020	0.98410782
44	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.97113234
45	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.95292064
46	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.94959976
47	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.94441505
48	GABAergic synapse_Homo sapiens_hsa04727	0.94005900
49	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.93830080
50	Alzheimers disease_Homo sapiens_hsa05010	0.93241706
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.92978531
52	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.92797427
53	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.91976160
54	Huntingtons disease_Homo sapiens_hsa05016	0.90672278
55	Pancreatic secretion_Homo sapiens_hsa04972	0.88684074
56	Bile secretion_Homo sapiens_hsa04976	0.87515457
57	Phototransduction_Homo sapiens_hsa04744	0.87005715
58	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.85196748
59	Peroxisome_Homo sapiens_hsa04146	0.83710023
60	Metabolic pathways_Homo sapiens_hsa01100	0.82818121
61	Base excision repair_Homo sapiens_hsa03410	0.80457287
62	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.80068710
63	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.79380412
64	Arginine biosynthesis_Homo sapiens_hsa00220	0.78972335
65	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.78920274
66	Tryptophan metabolism_Homo sapiens_hsa00380	0.78825944
67	Protein digestion and absorption_Homo sapiens_hsa04974	0.76519045
68	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.73824926
69	Morphine addiction_Homo sapiens_hsa05032	0.73284253
70	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.72952914
71	AMPK signaling pathway_Homo sapiens_hsa04152	0.72660612
72	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.72299622
73	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.72228589
74	Carbon metabolism_Homo sapiens_hsa01200	0.71516965
75	Homologous recombination_Homo sapiens_hsa03440	0.69745282
76	Basal transcription factors_Homo sapiens_hsa03022	0.67545975
77	Purine metabolism_Homo sapiens_hsa00230	0.67111823
78	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.66771519
79	Phenylalanine metabolism_Homo sapiens_hsa00360	0.64805379
80	Selenocompound metabolism_Homo sapiens_hsa00450	0.62780469
81	Nucleotide excision repair_Homo sapiens_hsa03420	0.61965931
82	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.61122719
83	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.58573151
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.52320652
85	Linoleic acid metabolism_Homo sapiens_hsa00591	0.49836057
86	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.49082035
87	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.47450823
88	Galactose metabolism_Homo sapiens_hsa00052	0.47128190
89	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.45609450
90	Fatty acid degradation_Homo sapiens_hsa00071	0.45389072
91	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.40878520
92	Dopaminergic synapse_Homo sapiens_hsa04728	0.40780137
93	Complement and coagulation cascades_Homo sapiens_hsa04610	0.37355997
94	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.34937473
95	Tight junction_Homo sapiens_hsa04530	0.34793074
96	Fanconi anemia pathway_Homo sapiens_hsa03460	0.34010706
97	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.31758962
98	RNA transport_Homo sapiens_hsa03013	0.30292074
99	Glutathione metabolism_Homo sapiens_hsa00480	0.30232479
100	Pentose phosphate pathway_Homo sapiens_hsa00030	0.29160760

KRT18P48

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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