ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	6.89364557
2	oxidative demethylation (GO:0070989)	5.53755159
3	alkaloid metabolic process (GO:0009820)	5.41666783
4	dicarboxylic acid catabolic process (GO:0043649)	5.40305402
5	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.38516470
6	ATP synthesis coupled proton transport (GO:0015986)	5.07435166
7	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.07435166
8	inositol phosphate-mediated signaling (GO:0048016)	4.96977681
9	neurofilament cytoskeleton organization (GO:0060052)	4.86997231
10	protein polyglutamylation (GO:0018095)	4.48676640
11	DNA damage response, detection of DNA damage (GO:0042769)	4.33485564
12	response to pheromone (GO:0019236)	4.31979712
13	drug catabolic process (GO:0042737)	4.17291475
14	negative regulation of norepinephrine secretion (GO:0010700)	4.16668103
15	protein complex biogenesis (GO:0070271)	4.16624834
16	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	4.02755063
17	axoneme assembly (GO:0035082)	3.90936687
18	negative regulation of heart rate (GO:0010459)	3.87821009
19	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.81227236
20	substrate-independent telencephalic tangential migration (GO:0021826)	3.81227236
21	retinal cone cell development (GO:0046549)	3.80437630
22	regulation of uterine smooth muscle contraction (GO:0070472)	3.72217852
23	sarcoplasmic reticulum calcium ion transport (GO:0070296)	3.67706649
24	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.51973981
25	mitochondrial respiratory chain complex assembly (GO:0033108)	3.51829124
26	respiratory electron transport chain (GO:0022904)	3.50129961
27	hydrogen ion transmembrane transport (GO:1902600)	3.45405357
28	electron transport chain (GO:0022900)	3.43352135
29	cornea development in camera-type eye (GO:0061303)	3.41926265
30	neutrophil mediated immunity (GO:0002446)	3.41497702
31	protein neddylation (GO:0045116)	3.29060037
32	positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)	3.27694730
33	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.24601523
34	negative regulation of adenylate cyclase activity (GO:0007194)	3.23744830
35	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.20671506
36	terpenoid biosynthetic process (GO:0016114)	3.19953592
37	proton transport (GO:0015992)	3.16745140
38	ATP biosynthetic process (GO:0006754)	3.15479245
39	hydrogen transport (GO:0006818)	3.10108461
40	regulation of cellular respiration (GO:0043457)	3.08868784
41	cell proliferation in forebrain (GO:0021846)	3.08495036
42	negative regulation of cyclase activity (GO:0031280)	3.06195357
43	protein localization to cilium (GO:0061512)	3.03757574
44	retinal ganglion cell axon guidance (GO:0031290)	3.02032586
45	negative regulation of lyase activity (GO:0051350)	3.01918226
46	negative regulation of catecholamine secretion (GO:0033604)	3.01251513
47	ubiquinone biosynthetic process (GO:0006744)	3.00110727
48	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.99778170
49	ubiquinone metabolic process (GO:0006743)	2.98341935
50	negative regulation of meiotic cell cycle (GO:0051447)	2.97670312
51	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.96838439
52	peroxisome fission (GO:0016559)	2.94852379
53	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.94507498
54	myeloid leukocyte mediated immunity (GO:0002444)	2.94061747
55	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.92436044
56	DNA double-strand break processing (GO:0000729)	2.91422479
57	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.88012713
58	regulation of meiosis I (GO:0060631)	2.87472247
59	synaptic transmission, cholinergic (GO:0007271)	2.87391677
60	receptor recycling (GO:0001881)	2.86990881
61	exploration behavior (GO:0035640)	2.80601150
62	negative regulation of calcium ion transmembrane transport (GO:1903170)	2.78833851
63	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	2.78833851
64	nonmotile primary cilium assembly (GO:0035058)	2.75857206
65	response to redox state (GO:0051775)	2.71765852
66	circadian sleep/wake cycle process (GO:0022410)	2.68432867
67	short-term memory (GO:0007614)	2.68023304
68	detection of calcium ion (GO:0005513)	2.66629475
69	primary amino compound metabolic process (GO:1901160)	2.64088109
70	protein-cofactor linkage (GO:0018065)	2.63237939
71	isoprenoid biosynthetic process (GO:0008299)	2.62380508
72	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.62210733
73	activation of protein kinase B activity (GO:0032148)	2.62163109
74	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.59286337
75	NADH dehydrogenase complex assembly (GO:0010257)	2.59286337
76	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.59286337
77	artery smooth muscle contraction (GO:0014824)	2.57587935
78	negative regulation of cAMP biosynthetic process (GO:0030818)	2.56424502
79	diterpenoid biosynthetic process (GO:0016102)	2.55845826
80	genetic imprinting (GO:0071514)	2.55696769
81	DNA methylation involved in gamete generation (GO:0043046)	2.55369646
82	protein heterotetramerization (GO:0051290)	2.53483644
83	positive regulation of potassium ion transport (GO:0043268)	2.53231853
84	4-hydroxyproline metabolic process (GO:0019471)	2.52259687
85	GTP biosynthetic process (GO:0006183)	2.50058100
86	regulation of axon regeneration (GO:0048679)	2.49124994
87	regulation of neuron projection regeneration (GO:0070570)	2.49124994
88	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.49102476
89	fear response (GO:0042596)	2.49077572
90	negative regulation of purine nucleotide biosynthetic process (GO:1900372)	2.45978110
91	negative regulation of nucleotide biosynthetic process (GO:0030809)	2.45978110
92	negative regulation of cyclic nucleotide biosynthetic process (GO:0030803)	2.45366157
93	energy homeostasis (GO:0097009)	2.45084679
94	calcium ion import (GO:0070509)	2.44980494
95	amino acid salvage (GO:0043102)	2.44864013
96	L-methionine salvage (GO:0071267)	2.44864013
97	L-methionine biosynthetic process (GO:0071265)	2.44864013
98	negative regulation of cAMP metabolic process (GO:0030815)	2.42371085
99	adrenergic receptor signaling pathway (GO:0071875)	2.40383358
100	sterol biosynthetic process (GO:0016126)	2.40272754

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.32911231
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.49057652
3	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.05474263
4	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.98091630
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.74113737
6	VDR_22108803_ChIP-Seq_LS180_Human	2.72774273
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.65116970
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.59156141
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.39005819
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.29182777
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.26641259
12	TP53_22573176_ChIP-Seq_HFKS_Human	2.14449242
13	REST_21632747_ChIP-Seq_MESCs_Mouse	2.06041467
14	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.00855119
15	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.96223260
16	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.80993449
17	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.80443200
18	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.77957495
19	BCAT_22108803_ChIP-Seq_LS180_Human	1.66678249
20	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.65192203
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.64741419
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.63821745
23	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.59709227
24	FUS_26573619_Chip-Seq_HEK293_Human	1.54098715
25	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.53082475
26	P300_19829295_ChIP-Seq_ESCs_Human	1.52661863
27	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.49842541
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.49313373
29	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.48086314
30	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.46010622
31	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.45609703
32	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.44991084
33	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.44831438
34	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.44307404
35	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.43674235
36	TCF4_22108803_ChIP-Seq_LS180_Human	1.43270198
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.42932342
38	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.42932342
39	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.39322817
40	AHR_22903824_ChIP-Seq_MCF-7_Human	1.37738539
41	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.35031759
42	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.34438745
43	ER_23166858_ChIP-Seq_MCF-7_Human	1.32872400
44	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.32061872
45	AR_21572438_ChIP-Seq_LNCaP_Human	1.31816183
46	AR_25329375_ChIP-Seq_VCAP_Human	1.31598380
47	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.30241804
48	RUNX2_22187159_ChIP-Seq_PCA_Human	1.29754563
49	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.29452793
50	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.28638481
51	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.28513111
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.28390276
53	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.26589276
54	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.21501966
55	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.20746382
56	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.20417574
57	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.19852011
58	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.16515795
59	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.16203548
60	AR_20517297_ChIP-Seq_VCAP_Human	1.15314916
61	STAT3_23295773_ChIP-Seq_U87_Human	1.15101162
62	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.15046650
63	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.14792557
64	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.12838508
65	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.12630171
66	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.11991880
67	TCF4_23295773_ChIP-Seq_U87_Human	1.11933297
68	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.11672514
69	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11086050
70	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.10610394
71	SMAD4_21799915_ChIP-Seq_A2780_Human	1.09795909
72	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.09377019
73	CDX2_22108803_ChIP-Seq_LS180_Human	1.06601602
74	SOX2_19829295_ChIP-Seq_ESCs_Human	1.06469130
75	NANOG_19829295_ChIP-Seq_ESCs_Human	1.06469130
76	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.06359879
77	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.06359879
78	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.05150233
79	IRF1_19129219_ChIP-ChIP_H3396_Human	1.03832559
80	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.02849479
81	ELK1_19687146_ChIP-ChIP_HELA_Human	1.02136611
82	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00732620
83	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.00715956
84	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.00511463
85	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.99584547
86	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.99315740
87	SMAD3_21741376_ChIP-Seq_ESCs_Human	0.99024289
88	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.98938335
89	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.98820956
90	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.94739379
91	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.94739379
92	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.94648104
93	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	0.94477398
94	RNF2_27304074_Chip-Seq_NSC_Mouse	0.93801677
95	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.93767934
96	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.93389097
97	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.93131357
98	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.92839978
99	NCOR_22424771_ChIP-Seq_293T_Human	0.92309049
100	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.92151781

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005360_urolithiasis	5.83278540
2	MP0003195_calcinosis	5.11382507
3	MP0002163_abnormal_gland_morphology	4.08903998
4	MP0003787_abnormal_imprinting	4.01353094
5	MP0004145_abnormal_muscle_electrophysio	3.30813696
6	MP0000569_abnormal_digit_pigmentation	2.82890022
7	MP0001986_abnormal_taste_sensitivity	2.71461477
8	MP0003123_paternal_imprinting	2.67756243
9	MP0006292_abnormal_olfactory_placode	2.66727006
10	MP0009046_muscle_twitch	2.63034333
11	MP0001501_abnormal_sleep_pattern	2.62324545
12	MP0005379_endocrine/exocrine_gland_phen	2.59413517
13	MP0005423_abnormal_somatic_nervous	2.47924005
14	MP0008877_abnormal_DNA_methylation	2.47832892
15	MP0001984_abnormal_olfaction	2.19607099
16	MP0001440_abnormal_grooming_behavior	2.08817679
17	MP0006082_CNS_inflammation	2.07453146
18	MP0003122_maternal_imprinting	2.06620634
19	MP0002272_abnormal_nervous_system	2.01448460
20	MP0001970_abnormal_pain_threshold	1.83171987
21	MP0003121_genomic_imprinting	1.69084400
22	MP0009745_abnormal_behavioral_response	1.65727586
23	MP0004142_abnormal_muscle_tone	1.64073061
24	MP0008875_abnormal_xenobiotic_pharmacok	1.56544597
25	MP0002837_dystrophic_cardiac_calcinosis	1.53728329
26	MP0002572_abnormal_emotion/affect_behav	1.51307401
27	MP0003635_abnormal_synaptic_transmissio	1.46474289
28	MP0002234_abnormal_pharynx_morphology	1.45506690
29	MP0003011_delayed_dark_adaptation	1.45486824
30	MP0008872_abnormal_physiological_respon	1.42906100
31	MP0004043_abnormal_pH_regulation	1.42383561
32	MP0005645_abnormal_hypothalamus_physiol	1.40681106
33	MP0000013_abnormal_adipose_tissue	1.38926666
34	MP0002734_abnormal_mechanical_nocicepti	1.35350451
35	MP0001968_abnormal_touch/_nociception	1.34468332
36	MP0002063_abnormal_learning/memory/cond	1.33334729
37	MP0004742_abnormal_vestibular_system	1.26687463
38	MP0002557_abnormal_social/conspecific_i	1.25196873
39	MP0002064_seizures	1.24352091
40	MP0010386_abnormal_urinary_bladder	1.22213735
41	MP0003136_yellow_coat_color	1.22192251
42	MP0002638_abnormal_pupillary_reflex	1.22037957
43	MP0005332_abnormal_amino_acid	1.22012387
44	MP0003186_abnormal_redox_activity	1.21119518
45	MP0001919_abnormal_reproductive_system	1.19721260
46	MP0006035_abnormal_mitochondrial_morpho	1.19111165
47	MP0005551_abnormal_eye_electrophysiolog	1.17048094
48	MP0003880_abnormal_central_pattern	1.14585207
49	MP0002733_abnormal_thermal_nociception	1.12093354
50	MP0002876_abnormal_thyroid_physiology	1.10281590
51	MP0002653_abnormal_ependyma_morphology	1.10194865
52	MP0000631_abnormal_neuroendocrine_gland	1.09437049
53	MP0005386_behavior/neurological_phenoty	1.06476778
54	MP0004924_abnormal_behavior	1.06476778
55	MP0002067_abnormal_sensory_capabilities	1.04207495
56	MP0002909_abnormal_adrenal_gland	0.99492072
57	MP0004484_altered_response_of	0.96119394
58	MP0009780_abnormal_chondrocyte_physiolo	0.95150802
59	MP0003633_abnormal_nervous_system	0.94495922
60	MP0006276_abnormal_autonomic_nervous	0.92851751
61	MP0005646_abnormal_pituitary_gland	0.91640801
62	MP0004085_abnormal_heartbeat	0.91528176
63	MP0001270_distended_abdomen	0.89243897
64	MP0005084_abnormal_gallbladder_morpholo	0.87726227
65	MP0000538_abnormal_urinary_bladder	0.87212843
66	MP0006072_abnormal_retinal_apoptosis	0.87165627
67	MP0001756_abnormal_urination	0.86335884
68	MP0001348_abnormal_lacrimal_gland	0.85435983
69	MP0001486_abnormal_startle_reflex	0.84552214
70	MP0000015_abnormal_ear_pigmentation	0.84342934
71	MP0002735_abnormal_chemical_nociception	0.82562209
72	MP0002736_abnormal_nociception_after	0.80579532
73	MP0003879_abnormal_hair_cell	0.80211711
74	MP0004019_abnormal_vitamin_homeostasis	0.80102609
75	MP0005085_abnormal_gallbladder_physiolo	0.79529725
76	MP0000230_abnormal_systemic_arterial	0.79196359
77	MP0009379_abnormal_foot_pigmentation	0.79016286
78	MP0005389_reproductive_system_phenotype	0.77536740
79	MP0002295_abnormal_pulmonary_circulatio	0.77136240
80	MP0002160_abnormal_reproductive_system	0.75536794
81	MP0000639_abnormal_adrenal_gland	0.74951862
82	MP0002184_abnormal_innervation	0.74428494
83	MP0001765_abnormal_ion_homeostasis	0.73790841
84	MP0001529_abnormal_vocalization	0.70714467
85	MP0000685_abnormal_immune_system	0.70650458
86	MP0003631_nervous_system_phenotype	0.70443003
87	MP0002938_white_spotting	0.69004799
88	MP0010329_abnormal_lipoprotein_level	0.68500172
89	MP0003646_muscle_fatigue	0.68357185
90	MP0005253_abnormal_eye_physiology	0.67579416
91	MP0004885_abnormal_endolymph	0.67525848
92	MP0002229_neurodegeneration	0.65794592
93	MP0002882_abnormal_neuron_morphology	0.65777400
94	MP0001905_abnormal_dopamine_level	0.64404705
95	MP0004811_abnormal_neuron_physiology	0.63984534
96	MP0004859_abnormal_synaptic_plasticity	0.60665793
97	MP0005174_abnormal_tail_pigmentation	0.60543520
98	MP0003938_abnormal_ear_development	0.59690423
99	MP0000955_abnormal_spinal_cord	0.58582102
100	MP0008789_abnormal_olfactory_epithelium	0.56919948

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Broad alveolar ridges (HP:0000187)	5.81655165
2	Myokymia (HP:0002411)	5.59736846
3	Limb dystonia (HP:0002451)	4.92861873
4	Febrile seizures (HP:0002373)	3.76392288
5	Abnormal mitochondria in muscle tissue (HP:0008316)	3.67694243
6	Action tremor (HP:0002345)	3.64135785
7	Progressive cerebellar ataxia (HP:0002073)	3.49936934
8	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.43908132
9	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.43908132
10	Atonic seizures (HP:0010819)	3.34729009
11	Acute necrotizing encephalopathy (HP:0006965)	3.26175826
12	Type II lissencephaly (HP:0007260)	3.23543498
13	Focal seizures (HP:0007359)	3.21987291
14	Neoplasm of the adrenal cortex (HP:0100641)	3.06351117
15	Mitochondrial inheritance (HP:0001427)	3.03796104
16	Increased CSF lactate (HP:0002490)	3.02680326
17	Hepatic necrosis (HP:0002605)	2.91255813
18	Abnormality of the alveolar ridges (HP:0006477)	2.86954410
19	Dysdiadochokinesis (HP:0002075)	2.83717331
20	Abnormal tarsal ossification (HP:0008369)	2.81827658
21	Hepatocellular necrosis (HP:0001404)	2.81243365
22	Stenosis of the external auditory canal (HP:0000402)	2.78576942
23	Neonatal hypoglycemia (HP:0001998)	2.77620889
24	Acute encephalopathy (HP:0006846)	2.77237565
25	Abnormality of the corticospinal tract (HP:0002492)	2.76564392
26	Medial flaring of the eyebrow (HP:0010747)	2.75708662
27	Lissencephaly (HP:0001339)	2.72377425
28	Abnormal pancreas size (HP:0012094)	2.71370889
29	Focal motor seizures (HP:0011153)	2.71062215
30	Progressive macrocephaly (HP:0004481)	2.62255212
31	Increased intramyocellular lipid droplets (HP:0012240)	2.61974886
32	Severe visual impairment (HP:0001141)	2.57068942
33	Renal cortical cysts (HP:0000803)	2.50776368
34	Pancreatic cysts (HP:0001737)	2.42644029
35	Abnormality of midbrain morphology (HP:0002418)	2.38449836
36	Molar tooth sign on MRI (HP:0002419)	2.38449836
37	Absence seizures (HP:0002121)	2.37822479
38	X-linked dominant inheritance (HP:0001423)	2.37492102
39	Abnormality of magnesium homeostasis (HP:0004921)	2.37042004
40	3-Methylglutaconic aciduria (HP:0003535)	2.36692702
41	Renal dysplasia (HP:0000110)	2.36601931
42	Retinal dysplasia (HP:0007973)	2.34779900
43	Hypomagnesemia (HP:0002917)	2.32725552
44	Broad-based gait (HP:0002136)	2.31803113
45	EEG with generalized epileptiform discharges (HP:0011198)	2.29837869
46	Hypsarrhythmia (HP:0002521)	2.28937059
47	Epileptiform EEG discharges (HP:0011182)	2.27687704
48	Abnormality of alanine metabolism (HP:0010916)	2.26556084
49	Hyperalaninemia (HP:0003348)	2.26556084
50	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.26556084
51	Epileptic encephalopathy (HP:0200134)	2.26374155
52	Generalized aminoaciduria (HP:0002909)	2.23389565
53	Congenital, generalized hypertrichosis (HP:0004540)	2.22271670
54	Increased serum lactate (HP:0002151)	2.18379536
55	Parakeratosis (HP:0001036)	2.17607005
56	Optic disc pallor (HP:0000543)	2.16214616
57	Spastic tetraplegia (HP:0002510)	2.15734439
58	Gaze-evoked nystagmus (HP:0000640)	2.14461953
59	Diastasis recti (HP:0001540)	2.14235996
60	Large eyes (HP:0001090)	2.12030082
61	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.10432821
62	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.10432821
63	Increased muscle lipid content (HP:0009058)	2.10228265
64	Increased hepatocellular lipid droplets (HP:0006565)	2.08359520
65	Hepatoblastoma (HP:0002884)	2.07828431
66	Pachygyria (HP:0001302)	2.04819452
67	Abnormality of renal resorption (HP:0011038)	2.04281161
68	Adrenal hypoplasia (HP:0000835)	2.03227672
69	Glycosuria (HP:0003076)	2.03203738
70	Abnormality of urine glucose concentration (HP:0011016)	2.03203738
71	Tetraplegia (HP:0002445)	2.02845855
72	Neoplasm of the adrenal gland (HP:0100631)	2.02273956
73	Metaphyseal dysplasia (HP:0100255)	2.01506788
74	Erythroderma (HP:0001019)	2.01189123
75	Gait imbalance (HP:0002141)	2.00904827
76	Drooling (HP:0002307)	1.98414435
77	Mutism (HP:0002300)	1.97924548
78	Nephronophthisis (HP:0000090)	1.97401148
79	Lipid accumulation in hepatocytes (HP:0006561)	1.95762476
80	Abnormality of the renal cortex (HP:0011035)	1.95328137
81	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.93319611
82	Dialeptic seizures (HP:0011146)	1.92612937
83	Renal Fanconi syndrome (HP:0001994)	1.91946155
84	Impaired vibration sensation in the lower limbs (HP:0002166)	1.91235634
85	Severe muscular hypotonia (HP:0006829)	1.91015520
86	Abnormal rod and cone electroretinograms (HP:0008323)	1.88608320
87	Aplasia/hypoplasia of the uterus (HP:0008684)	1.88455953
88	Hypothermia (HP:0002045)	1.88088273
89	Polydipsia (HP:0001959)	1.85674074
90	Abnormal drinking behavior (HP:0030082)	1.85674074
91	Congenital stationary night blindness (HP:0007642)	1.83319394
92	Overlapping toe (HP:0001845)	1.82525154
93	Exocrine pancreatic insufficiency (HP:0001738)	1.82510624
94	Cerebellar dysplasia (HP:0007033)	1.81951597
95	Elevated erythrocyte sedimentation rate (HP:0003565)	1.81276122
96	Excessive salivation (HP:0003781)	1.81128492
97	Lactic acidosis (HP:0003128)	1.80295635
98	Intellectual disability, moderate (HP:0002342)	1.78247314
99	Type I transferrin isoform profile (HP:0003642)	1.77328648
100	Congenital primary aphakia (HP:0007707)	1.76466300

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PRKD3	7.22772481
2	BMPR1B	4.22162123
3	MAP3K12	3.81622019
4	CASK	3.63177258
5	CAMKK2	3.42137918
6	CDK8	3.09736509
7	BCR	2.49443632
8	ZAK	2.00729797
9	LIMK1	1.97136039
10	TNIK	1.88914645
11	TESK1	1.80346292
12	GRK1	1.79720332
13	FRK	1.74150635
14	MAP4K2	1.69546624
15	PDK2	1.64161812
16	ADRBK2	1.49600836
17	TXK	1.44038781
18	FLT3	1.34120893
19	MYLK	1.32904623
20	PHKG2	1.32795003
21	PHKG1	1.32795003
22	TGFBR1	1.26509841
23	CDK19	1.25215044
24	PKN2	1.24985639
25	WNK4	1.23108496
26	ADRBK1	1.20946282
27	PLK2	1.17197111
28	TIE1	1.01266106
29	MARK1	1.00692569
30	MST4	0.94146095
31	PRKCE	0.93001543
32	PKN1	0.89543084
33	PINK1	0.86279224
34	CAMK2A	0.86141870
35	NUAK1	0.85898672
36	TAOK3	0.84411716
37	CSNK1G3	0.83031509
38	DYRK2	0.81994386
39	PRKCG	0.79765497
40	EIF2AK3	0.76548653
41	ERN1	0.75709444
42	PNCK	0.75422227
43	CSNK1G2	0.75080766
44	EIF2AK1	0.74180865
45	OXSR1	0.72941096
46	CAMKK1	0.69951871
47	PAK4	0.69152273
48	DAPK3	0.67999824
49	CSNK1A1L	0.66137459
50	PRKG1	0.61270931
51	TRIM28	0.60519448
52	ITK	0.59716296
53	ROCK1	0.59143788
54	AKT2	0.58189864
55	MST1R	0.57023974
56	MINK1	0.56572553
57	CSNK1G1	0.56331421
58	PAK1	0.55291782
59	ARAF	0.55216199
60	MAPK13	0.54698912
61	WNK3	0.51799797
62	PRKCI	0.49723985
63	PAK3	0.49268515
64	ABL2	0.47605131
65	INSRR	0.47444172
66	PRKCA	0.47257256
67	IRAK3	0.46000487
68	GRK5	0.44584831
69	RPS6KA2	0.44534946
70	ILK	0.42863948
71	UHMK1	0.41267323
72	PRKACA	0.40891853
73	CDK9	0.40312664
74	PRKCD	0.40220962
75	DAPK2	0.40091062
76	CAMK1G	0.40037837
77	CHEK2	0.39993384
78	EPHB2	0.38939590
79	GRK6	0.38830156
80	CSNK1A1	0.38006689
81	CAMK4	0.37682296
82	WNK1	0.37051323
83	HIPK2	0.35394317
84	PTK2	0.34987812
85	CDK5	0.34806559
86	CLK1	0.34546914
87	CAMK1	0.34429798
88	MAP3K4	0.32366153
89	CSNK1E	0.31974845
90	MKNK2	0.31351297
91	STK38L	0.31180023
92	TAF1	0.31094859
93	ERBB2	0.30690988
94	LATS1	0.30635911
95	CAMK2D	0.28770974
96	ROCK2	0.28441920
97	NTRK2	0.27437366
98	PIK3CA	0.26627887
99	VRK1	0.26215467
100	RPS6KA6	0.25527828

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.88872071
2	Nitrogen metabolism_Homo sapiens_hsa00910	3.66872715
3	Protein export_Homo sapiens_hsa03060	3.48186363
4	Parkinsons disease_Homo sapiens_hsa05012	3.43213952
5	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.89614148
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.81986878
7	Alzheimers disease_Homo sapiens_hsa05010	2.60719671
8	Nicotine addiction_Homo sapiens_hsa05033	2.43408977
9	GABAergic synapse_Homo sapiens_hsa04727	2.13053014
10	Huntingtons disease_Homo sapiens_hsa05016	1.99327560
11	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.94090558
12	Taste transduction_Homo sapiens_hsa04742	1.84318234
13	Retinol metabolism_Homo sapiens_hsa00830	1.84288974
14	Steroid biosynthesis_Homo sapiens_hsa00100	1.83359760
15	Chemical carcinogenesis_Homo sapiens_hsa05204	1.67901264
16	Morphine addiction_Homo sapiens_hsa05032	1.66999367
17	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.66094113
18	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.63243172
19	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.61777037
20	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.59557908
21	Folate biosynthesis_Homo sapiens_hsa00790	1.58213433
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.55270317
23	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.54422914
24	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.53150501
25	Circadian entrainment_Homo sapiens_hsa04713	1.45340196
26	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.44782425
27	Ribosome_Homo sapiens_hsa03010	1.44175385
28	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.36768909
29	Butanoate metabolism_Homo sapiens_hsa00650	1.33373449
30	Olfactory transduction_Homo sapiens_hsa04740	1.31722189
31	Glutamatergic synapse_Homo sapiens_hsa04724	1.29104060
32	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.24461780
33	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.21886028
34	Dopaminergic synapse_Homo sapiens_hsa04728	1.16055964
35	Selenocompound metabolism_Homo sapiens_hsa00450	1.12963244
36	Insulin secretion_Homo sapiens_hsa04911	1.11769781
37	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.11598602
38	Cocaine addiction_Homo sapiens_hsa05030	1.07392066
39	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.07121397
40	Amphetamine addiction_Homo sapiens_hsa05031	1.01625713
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.01055683
42	Renin secretion_Homo sapiens_hsa04924	1.00208793
43	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.97198870
44	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.95513489
45	Proteasome_Homo sapiens_hsa03050	0.94492218
46	Long-term depression_Homo sapiens_hsa04730	0.94475555
47	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.92800728
48	Serotonergic synapse_Homo sapiens_hsa04726	0.92579681
49	Fatty acid elongation_Homo sapiens_hsa00062	0.91597830
50	Salivary secretion_Homo sapiens_hsa04970	0.91176592
51	Calcium signaling pathway_Homo sapiens_hsa04020	0.87760429
52	Tryptophan metabolism_Homo sapiens_hsa00380	0.87042842
53	Cholinergic synapse_Homo sapiens_hsa04725	0.82785587
54	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.79405663
55	Vibrio cholerae infection_Homo sapiens_hsa05110	0.73724242
56	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.71632165
57	Phototransduction_Homo sapiens_hsa04744	0.71550755
58	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.70800311
59	Gastric acid secretion_Homo sapiens_hsa04971	0.70285036
60	Caffeine metabolism_Homo sapiens_hsa00232	0.69502005
61	Long-term potentiation_Homo sapiens_hsa04720	0.68730735
62	Mineral absorption_Homo sapiens_hsa04978	0.68606626
63	Linoleic acid metabolism_Homo sapiens_hsa00591	0.67807792
64	Type I diabetes mellitus_Homo sapiens_hsa04940	0.61762086
65	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.59357963
66	RNA polymerase_Homo sapiens_hsa03020	0.56567603
67	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.56460506
68	Collecting duct acid secretion_Homo sapiens_hsa04966	0.56404216
69	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.55677368
70	Sulfur metabolism_Homo sapiens_hsa00920	0.54609942
71	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.54582358
72	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53007750
73	Metabolic pathways_Homo sapiens_hsa01100	0.53001258
74	RNA degradation_Homo sapiens_hsa03018	0.52317861
75	Circadian rhythm_Homo sapiens_hsa04710	0.47861246
76	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.44361134
77	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.43854627
78	African trypanosomiasis_Homo sapiens_hsa05143	0.43622969
79	Gap junction_Homo sapiens_hsa04540	0.42706790
80	Pancreatic secretion_Homo sapiens_hsa04972	0.42352437
81	Phenylalanine metabolism_Homo sapiens_hsa00360	0.41484545
82	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.41052897
83	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.39224731
84	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.38183350
85	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.36308167
86	Fat digestion and absorption_Homo sapiens_hsa04975	0.36154219
87	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.35322039
88	Propanoate metabolism_Homo sapiens_hsa00640	0.35237348
89	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.34374782
90	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.34298174
91	Ether lipid metabolism_Homo sapiens_hsa00565	0.34089838
92	Basal transcription factors_Homo sapiens_hsa03022	0.32605699
93	Regulation of autophagy_Homo sapiens_hsa04140	0.31868535
94	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.31504356
95	Peroxisome_Homo sapiens_hsa04146	0.30362640
96	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.29064632
97	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.28175115
98	Tight junction_Homo sapiens_hsa04530	0.27877006
99	Asthma_Homo sapiens_hsa05310	0.27337463
100	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.27241046

CALM1P2

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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