ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	6.51739434
2	cell proliferation in forebrain (GO:0021846)	6.09367815
3	regulation of glomerulus development (GO:0090192)	5.11186752
4	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	4.89067276
5	sulfation (GO:0051923)	4.79284302
6	somite development (GO:0061053)	4.73861991
7	cellular response to ATP (GO:0071318)	4.72919033
8	water-soluble vitamin biosynthetic process (GO:0042364)	4.56508778
9	gamma-aminobutyric acid transport (GO:0015812)	4.52495550
10	protein polyglutamylation (GO:0018095)	4.28736400
11	positive regulation of fatty acid oxidation (GO:0046321)	4.24222362
12	membrane repolarization during cardiac muscle cell action potential (GO:0086013)	4.06103284
13	regulation of sequestering of triglyceride (GO:0010889)	4.04148263
14	regulation of cell proliferation involved in kidney development (GO:1901722)	4.01831267
15	ovulation cycle (GO:0042698)	3.94427162
16	DNA deamination (GO:0045006)	3.84521223
17	lung morphogenesis (GO:0060425)	3.78291835
18	membrane repolarization during action potential (GO:0086011)	3.75775958
19	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.74032479
20	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.74032479
21	cellular anion homeostasis (GO:0030002)	3.71148866
22	spinal cord development (GO:0021510)	3.67076073
23	positive regulation of glomerulus development (GO:0090193)	3.66508961
24	branching involved in labyrinthine layer morphogenesis (GO:0060670)	3.65664055
25	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.65478980
26	positive regulation of cardiac muscle cell differentiation (GO:2000727)	3.63955350
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.63581948
28	NADH dehydrogenase complex assembly (GO:0010257)	3.63581948
29	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.63581948
30	negative regulation of astrocyte differentiation (GO:0048712)	3.55806963
31	negative regulation of appetite (GO:0032099)	3.55733069
32	negative regulation of response to food (GO:0032096)	3.55733069
33	negative regulation of systemic arterial blood pressure (GO:0003085)	3.46324128
34	pharyngeal system development (GO:0060037)	3.45063580
35	lateral sprouting from an epithelium (GO:0060601)	3.44208618
36	positive regulation of potassium ion transmembrane transport (GO:1901381)	3.43662389
37	negative regulation of cardiac muscle tissue development (GO:0055026)	3.41955627
38	positive regulation of oligodendrocyte differentiation (GO:0048714)	3.39300227
39	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.37975230
40	endoderm formation (GO:0001706)	3.30925716
41	dentate gyrus development (GO:0021542)	3.29973377
42	otic vesicle formation (GO:0030916)	3.27338293
43	tooth mineralization (GO:0034505)	3.23716988
44	transmission of nerve impulse (GO:0019226)	3.21102955
45	negative regulation of heart growth (GO:0061117)	3.18563329
46	negative regulation of cardiac muscle tissue growth (GO:0055022)	3.18563329
47	regulation of collateral sprouting (GO:0048670)	3.18432876
48	regulation of receptor binding (GO:1900120)	3.17726349
49	pituitary gland development (GO:0021983)	3.17243282
50	regulation of mesoderm development (GO:2000380)	3.10950102
51	head development (GO:0060322)	3.10416453
52	negative regulation of glycogen biosynthetic process (GO:0045719)	3.09902711
53	protein complex biogenesis (GO:0070271)	3.07216855
54	response to lipoprotein particle (GO:0055094)	3.05306690
55	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	2.99988489
56	positive regulation of metanephros development (GO:0072216)	2.97085248
57	positive regulation of fatty acid beta-oxidation (GO:0032000)	2.96073510
58	white fat cell differentiation (GO:0050872)	2.95080884
59	regulation of female receptivity (GO:0045924)	2.94755015
60	positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)	2.92939816
61	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.91816052
62	positive regulation of triglyceride biosynthetic process (GO:0010867)	2.89816316
63	membrane repolarization (GO:0086009)	2.89815071
64	regulation of DNA endoreduplication (GO:0032875)	2.88389229
65	regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	2.88061387
66	negative regulation of telomerase activity (GO:0051974)	2.87877945
67	serotonin metabolic process (GO:0042428)	2.84309837
68	positive regulation of mitochondrial fission (GO:0090141)	2.82389929
69	regulation of cholesterol storage (GO:0010885)	2.81560284
70	positive regulation of mesonephros development (GO:0061213)	2.81390278
71	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.80482787
72	prostate gland growth (GO:0060736)	2.80335429
73	regulation of mesonephros development (GO:0061217)	2.78945186
74	negative regulation of Rho protein signal transduction (GO:0035024)	2.76659797
75	postsynaptic membrane organization (GO:0001941)	2.76533806
76	estrogen metabolic process (GO:0008210)	2.76037437
77	kidney morphogenesis (GO:0060993)	2.75525661
78	negative regulation of hormone biosynthetic process (GO:0032353)	2.74264062
79	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.73496302
80	glandular epithelial cell differentiation (GO:0002067)	2.73370500
81	lung secretory cell differentiation (GO:0061140)	2.72879636
82	positive regulation of synapse maturation (GO:0090129)	2.72770286
83	preassembly of GPI anchor in ER membrane (GO:0016254)	2.72480105
84	mitochondrial respiratory chain complex assembly (GO:0033108)	2.70068831
85	lung-associated mesenchyme development (GO:0060484)	2.69575917
86	motor neuron axon guidance (GO:0008045)	2.68475942
87	limb development (GO:0060173)	2.68089053
88	appendage development (GO:0048736)	2.68089053
89	regulation of action potential (GO:0098900)	2.67479155
90	indolalkylamine metabolic process (GO:0006586)	2.64718237
91	neuron remodeling (GO:0016322)	2.64342260
92	presynaptic membrane organization (GO:0097090)	2.63712934
93	cardiovascular system development (GO:0072358)	2.63032028
94	negative regulation of mast cell activation (GO:0033004)	2.61806758
95	regulation of membrane repolarization (GO:0060306)	2.61400015
96	multicellular organismal signaling (GO:0035637)	2.59994929
97	regulation of telomerase activity (GO:0051972)	2.59895082
98	primary amino compound metabolic process (GO:1901160)	2.59662874
99	phosphorelay signal transduction system (GO:0000160)	2.58806338
100	parturition (GO:0007567)	2.57713044

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	6.62766588
2	STAT6_21828071_ChIP-Seq_BEAS2B_Human	4.13995185
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.39355133
4	JARID2_20064375_ChIP-Seq_MESCs_Mouse	3.14599312
5	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.98285938
6	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.86905380
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.84304370
8	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.80818428
9	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.61843082
10	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.52028849
11	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.37652714
12	EZH2_27294783_Chip-Seq_ESCs_Mouse	2.36171282
13	IRF1_19129219_ChIP-ChIP_H3396_Human	2.35859530
14	EZH2_18974828_ChIP-Seq_MESCs_Mouse	2.33069697
15	RNF2_18974828_ChIP-Seq_MESCs_Mouse	2.33069697
16	RNF2_27304074_Chip-Seq_ESCs_Mouse	2.25498193
17	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.24908186
18	SUZ12_27294783_Chip-Seq_ESCs_Mouse	2.24858157
19	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	2.17121446
20	GBX2_23144817_ChIP-Seq_PC3_Human	2.10293483
21	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.06494793
22	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.93201366
23	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.92139047
24	REST_21632747_ChIP-Seq_MESCs_Mouse	1.89449615
25	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.87313556
26	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.86328451
27	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.84873533
28	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.83998116
29	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.77747549
30	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.75945964
31	RNF2_27304074_Chip-Seq_NSC_Mouse	1.74283881
32	ZNF274_21170338_ChIP-Seq_K562_Hela	1.73455723
33	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.72073232
34	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.68407265
35	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.64038608
36	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.61991335
37	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.61762850
38	FUS_26573619_Chip-Seq_HEK293_Human	1.56502606
39	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.55210850
40	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.45171445
41	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.38779094
42	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.37064577
43	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.37019985
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.36770937
45	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.36570307
46	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.35753010
47	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.32999534
48	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.32802889
49	VDR_22108803_ChIP-Seq_LS180_Human	1.29099953
50	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.22563969
51	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.20865741
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.18222915
53	EWS_26573619_Chip-Seq_HEK293_Human	1.17280554
54	MYC_18940864_ChIP-ChIP_HL60_Human	1.16984876
55	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.15487035
56	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.15390600
57	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.14358200
58	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.14291257
59	ER_23166858_ChIP-Seq_MCF-7_Human	1.12599948
60	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.10864914
61	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.10703921
62	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.09471281
63	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.09351277
64	P300_19829295_ChIP-Seq_ESCs_Human	1.05837859
65	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.04931055
66	DROSHA_22980978_ChIP-Seq_HELA_Human	1.04742965
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.03147576
68	NCOR_22424771_ChIP-Seq_293T_Human	0.99715564
69	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.99217636
70	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.98308867
71	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.95517387
72	TCF4_23295773_ChIP-Seq_U87_Human	0.94379342
73	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.93526631
74	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.92255750
75	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.91501021
76	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.90843934
77	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.90714642
78	TAF2_19829295_ChIP-Seq_ESCs_Human	0.90460998
79	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	0.88605560
80	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.88190442
81	STAT3_23295773_ChIP-Seq_U87_Human	0.88073899
82	SMAD3_21741376_ChIP-Seq_ESCs_Human	0.87701927
83	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.87594499
84	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.87525699
85	SMAD4_21799915_ChIP-Seq_A2780_Human	0.85822294
86	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.84326471
87	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.83554892
88	JUN_21703547_ChIP-Seq_K562_Human	0.83481920
89	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.82679253
90	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.81629933
91	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.80333926
92	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.79722542
93	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.79635798
94	AHR_22903824_ChIP-Seq_MCF-7_Human	0.78877548
95	IGF1R_20145208_ChIP-Seq_DFB_Human	0.78691139
96	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.78522246
97	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.78522246
98	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.76910696
99	BCAT_22108803_ChIP-Seq_LS180_Human	0.76875098
100	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.76591472

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	3.93798144
2	MP0003646_muscle_fatigue	3.38411648
3	MP0005646_abnormal_pituitary_gland	3.26623292
4	MP0001485_abnormal_pinna_reflex	2.82073079
5	MP0000049_abnormal_middle_ear	2.78468769
6	MP0002837_dystrophic_cardiac_calcinosis	2.74609253
7	MP0002160_abnormal_reproductive_system	2.70011489
8	MP0004145_abnormal_muscle_electrophysio	2.67416618
9	MP0009053_abnormal_anal_canal	2.55640275
10	MP0009379_abnormal_foot_pigmentation	2.38339190
11	MP0004130_abnormal_muscle_cell	2.34344437
12	MP0002138_abnormal_hepatobiliary_system	2.32631918
13	MP0004885_abnormal_endolymph	2.26685576
14	MP0002653_abnormal_ependyma_morphology	2.21537377
15	MP0005670_abnormal_white_adipose	2.21236387
16	MP0000537_abnormal_urethra_morphology	2.05432734
17	MP0002163_abnormal_gland_morphology	2.03455873
18	MP0000631_abnormal_neuroendocrine_gland	2.01407627
19	MP0005389_reproductive_system_phenotype	1.96246395
20	MP0004142_abnormal_muscle_tone	1.89374748
21	MP0005379_endocrine/exocrine_gland_phen	1.75121111
22	MP0003119_abnormal_digestive_system	1.69974043
23	MP0003879_abnormal_hair_cell	1.68870994
24	MP0004185_abnormal_adipocyte_glucose	1.68487186
25	MP0003938_abnormal_ear_development	1.64229029
26	MP0001348_abnormal_lacrimal_gland	1.61500724
27	MP0002272_abnormal_nervous_system	1.60647364
28	MP0001440_abnormal_grooming_behavior	1.56753515
29	MP0009250_abnormal_appendicular_skeleto	1.56292470
30	MP0008789_abnormal_olfactory_epithelium	1.54195154
31	MP0002876_abnormal_thyroid_physiology	1.53582041
32	MP0008872_abnormal_physiological_respon	1.53488880
33	MP0003937_abnormal_limbs/digits/tail_de	1.51962823
34	MP0003567_abnormal_fetal_cardiomyocyte	1.50997078
35	MP0004133_heterotaxia	1.50371440
36	MP0006072_abnormal_retinal_apoptosis	1.48219372
37	MP0003011_delayed_dark_adaptation	1.45977654
38	MP0009745_abnormal_behavioral_response	1.41299347
39	MP0003315_abnormal_perineum_morphology	1.38114001
40	MP0004134_abnormal_chest_morphology	1.37815152
41	MP0005551_abnormal_eye_electrophysiolog	1.36155408
42	MP0003942_abnormal_urinary_system	1.35840546
43	MP0000678_abnormal_parathyroid_gland	1.32707615
44	MP0008877_abnormal_DNA_methylation	1.30240764
45	MP0002102_abnormal_ear_morphology	1.28980949
46	MP0003635_abnormal_synaptic_transmissio	1.28287355
47	MP0002734_abnormal_mechanical_nocicepti	1.23893576
48	MP0002249_abnormal_larynx_morphology	1.23761223
49	MP0003123_paternal_imprinting	1.23389750
50	MP0003787_abnormal_imprinting	1.23009518
51	MP0000778_abnormal_nervous_system	1.21607312
52	MP0004859_abnormal_synaptic_plasticity	1.19383132
53	MP0002064_seizures	1.18310766
54	MP0001919_abnormal_reproductive_system	1.18081437
55	MP0003195_calcinosis	1.17067297
56	MP0000026_abnormal_inner_ear	1.16574601
57	MP0005195_abnormal_posterior_eye	1.08728108
58	MP0002733_abnormal_thermal_nociception	1.08401035
59	MP0001963_abnormal_hearing_physiology	1.08348805
60	MP0009046_muscle_twitch	1.07757991
61	MP0005499_abnormal_olfactory_system	1.05174563
62	MP0005394_taste/olfaction_phenotype	1.05174563
63	MP0002184_abnormal_innervation	1.04779783
64	MP0001970_abnormal_pain_threshold	1.03136833
65	MP0002557_abnormal_social/conspecific_i	1.01990664
66	MP0002063_abnormal_learning/memory/cond	1.01237415
67	MP0001293_anophthalmia	1.00985736
68	MP0009765_abnormal_xenobiotic_induced	0.98783694
69	MP0001968_abnormal_touch/_nociception	0.95682725
70	MP0000613_abnormal_salivary_gland	0.95379898
71	MP0005423_abnormal_somatic_nervous	0.95277977
72	MP0002752_abnormal_somatic_nervous	0.94443467
73	MP0004742_abnormal_vestibular_system	0.93785302
74	MP0002277_abnormal_respiratory_mucosa	0.93567287
75	MP0003936_abnormal_reproductive_system	0.93324888
76	MP0003724_increased_susceptibility_to	0.92227381
77	MP0002572_abnormal_emotion/affect_behav	0.91774549
78	MP0000955_abnormal_spinal_cord	0.90667776
79	MP0002282_abnormal_trachea_morphology	0.89916704
80	MP0009384_cardiac_valve_regurgitation	0.89773782
81	MP0002139_abnormal_hepatobiliary_system	0.87790267
82	MP0003638_abnormal_response/metabolism_	0.82268624
83	MP0004270_analgesia	0.82228874
84	MP0003880_abnormal_central_pattern	0.82214000
85	MP0001486_abnormal_startle_reflex	0.81651490
86	MP0002928_abnormal_bile_duct	0.81459558
87	MP0005174_abnormal_tail_pigmentation	0.81334059
88	MP0002638_abnormal_pupillary_reflex	0.81271530
89	MP0003890_abnormal_embryonic-extraembry	0.79900695
90	MP0000534_abnormal_ureter_morphology	0.78139224
91	MP0002932_abnormal_joint_morphology	0.77719867
92	MP0000013_abnormal_adipose_tissue	0.77144210
93	MP0003136_yellow_coat_color	0.75866478
94	MP0003283_abnormal_digestive_organ	0.74778102
95	MP0003878_abnormal_ear_physiology	0.72719961
96	MP0005377_hearing/vestibular/ear_phenot	0.72719961
97	MP0001188_hyperpigmentation	0.72518204
98	MP0002882_abnormal_neuron_morphology	0.72278783
99	MP0002735_abnormal_chemical_nociception	0.72264672
100	MP0002751_abnormal_autonomic_nervous	0.71722305

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	5.15674817
2	Short 1st metacarpal (HP:0010034)	5.15674817
3	Abnormality of the 1st metacarpal (HP:0010009)	4.53877868
4	Abnormality of the proximal phalanges of the hand (HP:0009834)	4.29089387
5	Pendular nystagmus (HP:0012043)	4.15690674
6	Genetic anticipation (HP:0003743)	3.83324351
7	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	3.82700294
8	Short hallux (HP:0010109)	3.72400115
9	Abnormality of the middle phalanges of the toes (HP:0010183)	3.69796908
10	Abnormality of the nasal septum (HP:0000419)	3.65092907
11	Stenosis of the external auditory canal (HP:0000402)	3.61581684
12	Abnormality of the phalanges of the 5th finger (HP:0004213)	3.61171007
13	Aplasia/Hypoplasia of the hallux (HP:0008362)	3.48214380
14	Progressive cerebellar ataxia (HP:0002073)	3.37936113
15	Symphalangism affecting the phalanges of the hand (HP:0009773)	3.34863452
16	Short phalanx of the thumb (HP:0009660)	3.30810182
17	Synostosis of carpal bones (HP:0005048)	3.29539840
18	Morphological abnormality of the middle ear (HP:0008609)	3.19821788
19	Agitation (HP:0000713)	3.19641981
20	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	3.11050875
21	Pancreatic fibrosis (HP:0100732)	3.07648285
22	Absent thumb (HP:0009777)	2.96708268
23	Congenital stationary night blindness (HP:0007642)	2.94095039
24	True hermaphroditism (HP:0010459)	2.85666014
25	Abnormality of DNA repair (HP:0003254)	2.82918511
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.81622314
27	Asplenia (HP:0001746)	2.81243638
28	Short femoral neck (HP:0100864)	2.80643446
29	Pancreatic cysts (HP:0001737)	2.80488418
30	Abolished electroretinogram (ERG) (HP:0000550)	2.80097932
31	Hypoplasia of the uterus (HP:0000013)	2.75340413
32	Synostosis involving the elbow (HP:0003938)	2.75150697
33	Humeroradial synostosis (HP:0003041)	2.75150697
34	Fused cervical vertebrae (HP:0002949)	2.73807298
35	Ectopic kidney (HP:0000086)	2.69926860
36	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.68909838
37	Osteomalacia (HP:0002749)	2.68825953
38	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.68250364
39	Carpal bone hypoplasia (HP:0001498)	2.59933634
40	Nephronophthisis (HP:0000090)	2.59405300
41	Decreased subcutaneous fat (HP:0001002)	2.58903604
42	Porencephaly (HP:0002132)	2.58331361
43	Septo-optic dysplasia (HP:0100842)	2.56374711
44	Methylmalonic acidemia (HP:0002912)	2.50406526
45	Molar tooth sign on MRI (HP:0002419)	2.47730072
46	Abnormality of midbrain morphology (HP:0002418)	2.47730072
47	Chorioretinal atrophy (HP:0000533)	2.47672854
48	Abnormality of the renal collecting system (HP:0004742)	2.47482157
49	Reticulocytopenia (HP:0001896)	2.46766940
50	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	2.46682228
51	Confusion (HP:0001289)	2.45174445
52	Increased corneal curvature (HP:0100692)	2.42774573
53	Keratoconus (HP:0000563)	2.42774573
54	Hypoplasia of the ulna (HP:0003022)	2.40157530
55	Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)	2.40114088
56	Adrenal hypoplasia (HP:0000835)	2.39187984
57	Congenital sensorineural hearing impairment (HP:0008527)	2.36766835
58	Visual hallucinations (HP:0002367)	2.36337596
59	Abnormal rod and cone electroretinograms (HP:0008323)	2.36015912
60	Methylmalonic aciduria (HP:0012120)	2.27190024
61	Conjunctival hamartoma (HP:0100780)	2.26698590
62	Carpal synostosis (HP:0009702)	2.21022443
63	Maternal diabetes (HP:0009800)	2.14694023
64	Abnormality of the renal medulla (HP:0100957)	2.14251010
65	Abnormality of binocular vision (HP:0011514)	2.12665156
66	Diplopia (HP:0000651)	2.12665156
67	Aplasia/hypoplasia of the uterus (HP:0008684)	2.11330757
68	Abnormality of subcutaneous fat tissue (HP:0001001)	2.07839058
69	Severe visual impairment (HP:0001141)	2.05899186
70	Abnormal pancreas size (HP:0012094)	2.03966328
71	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.03104379
72	Cystic liver disease (HP:0006706)	2.01142566
73	Acute necrotizing encephalopathy (HP:0006965)	1.98279508
74	Mesomelia (HP:0003027)	1.98044677
75	Sclerocornea (HP:0000647)	1.97153493
76	Absent phalangeal crease (HP:0006109)	1.96212795
77	Furrowed tongue (HP:0000221)	1.94935118
78	Hamartoma of the eye (HP:0010568)	1.94854110
79	Synostosis involving bones of the hand (HP:0004278)	1.92638148
80	Goiter (HP:0000853)	1.89770644
81	Cutaneous finger syndactyly (HP:0010554)	1.85277972
82	3-Methylglutaconic aciduria (HP:0003535)	1.83975294
83	Abnormality of cells of the erythroid lineage (HP:0012130)	1.83858327
84	Short thumb (HP:0009778)	1.83561028
85	Aplasia/Hypoplasia of the ulna (HP:0006495)	1.83310969
86	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	1.83102444
87	Hypoplasia of the radius (HP:0002984)	1.82781876
88	Short 4th metacarpal (HP:0010044)	1.81778775
89	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	1.81778775
90	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.79582798
91	Absent/shortened dynein arms (HP:0200106)	1.79582798
92	2-3 toe syndactyly (HP:0004691)	1.79544097
93	Erythroderma (HP:0001019)	1.78209862
94	Broad hallux (HP:0010055)	1.77966946
95	Aplasia/hypoplasia of the femur (HP:0005613)	1.77545180
96	Gaze-evoked nystagmus (HP:0000640)	1.77365585
97	Oligomenorrhea (HP:0000876)	1.76539284
98	Hemiplegia (HP:0002301)	1.76047997
99	Short humerus (HP:0005792)	1.75586432
100	Abnormal mitochondria in muscle tissue (HP:0008316)	1.75467643

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	GRK1	4.53184252
2	PINK1	3.42400116
3	ADRBK2	3.18170823
4	FRK	3.02058127
5	MAP3K9	2.87967530
6	WNK4	2.61679243
7	PRKD2	2.40365832
8	DYRK2	2.00700177
9	PLK2	1.99804586
10	CASK	1.93341044
11	STK16	1.84308830
12	WNK3	1.82033226
13	BMPR1B	1.80858229
14	TAOK3	1.60511470
15	TLK1	1.59325891
16	MAP4K2	1.47861455
17	STK39	1.46073195
18	MAPK13	1.37637910
19	NTRK2	1.34286526
20	NUAK1	1.33337105
21	TAF1	1.26809506
22	TXK	1.26330378
23	CDK9	1.23393793
24	CAMKK2	1.20827023
25	MAP2K7	1.20333489
26	NTRK3	1.16183012
27	DYRK3	1.15986089
28	EPHB2	1.14763427
29	PRKCG	1.14014469
30	INSRR	1.10804100
31	TNIK	1.10477469
32	CSNK1G2	1.07355867
33	MAP3K4	1.05338201
34	CDC7	1.01610737
35	SGK223	1.00866763
36	SGK494	1.00866763
37	RPS6KA6	1.00728006
38	ERBB2	1.00526359
39	MAPKAPK3	0.99448233
40	MARK1	0.98936660
41	RPS6KA2	0.97508712
42	AURKA	0.97096748
43	TIE1	0.94164953
44	GRK5	0.92017569
45	CSNK1A1	0.89032552
46	MAP2K2	0.88772855
47	STK11	0.88571779
48	ZAK	0.87632464
49	TYRO3	0.86602817
50	ADRBK1	0.85366378
51	SGK2	0.84959687
52	DAPK2	0.83174205
53	PIK3CA	0.81930825
54	IKBKB	0.81767959
55	PAK3	0.81262960
56	MAP2K1	0.81219849
57	PRKCQ	0.80808455
58	PRKACA	0.77974407
59	MUSK	0.77606276
60	FLT3	0.76504348
61	ABL2	0.75216688
62	CAMK2A	0.74873109
63	SGK1	0.73482375
64	PRKCI	0.73396766
65	CAMKK1	0.68296595
66	CAMK1	0.67886932
67	VRK2	0.66931908
68	PRKCE	0.66609728
69	GRK6	0.66247086
70	EPHA4	0.66097103
71	CSNK1G3	0.65815799
72	RPS6KC1	0.65472201
73	RPS6KL1	0.65472201
74	PRKCH	0.64979118
75	CDK5	0.64889411
76	GRK7	0.64682220
77	SGK3	0.62294032
78	PRKCZ	0.61378212
79	CAMK1D	0.60892852
80	CAMK2B	0.60668302
81	CSNK1G1	0.60361087
82	BCKDK	0.60221533
83	PHKG1	0.59169802
84	PHKG2	0.59169802
85	CSK	0.57757286
86	PRKAA1	0.56411361
87	PRKCA	0.54528790
88	PRKACG	0.50761810
89	MAP2K4	0.49354602
90	PAK6	0.49354433
91	DYRK1A	0.49259839
92	MINK1	0.49202496
93	CSNK1A1L	0.48191019
94	MAPK9	0.47085513
95	OXSR1	0.46609848
96	SIK2	0.46557280
97	MAPK4	0.45483260
98	RPS6KA5	0.44614324
99	ATR	0.42560369
100	MAP3K11	0.40242455

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	3.82295508
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.59622015
3	Nicotine addiction_Homo sapiens_hsa05033	3.00912566
4	Sulfur metabolism_Homo sapiens_hsa00920	2.94752135
5	Phototransduction_Homo sapiens_hsa04744	2.51340416
6	Ribosome_Homo sapiens_hsa03010	2.42263629
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.10139972
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.97422334
9	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.93879471
10	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.91343940
11	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.91058618
12	Morphine addiction_Homo sapiens_hsa05032	1.89822941
13	Cardiac muscle contraction_Homo sapiens_hsa04260	1.84142241
14	Sulfur relay system_Homo sapiens_hsa04122	1.70739439
15	Parkinsons disease_Homo sapiens_hsa05012	1.68092934
16	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.66362294
17	Chemical carcinogenesis_Homo sapiens_hsa05204	1.64680976
18	Insulin secretion_Homo sapiens_hsa04911	1.52590211
19	Alzheimers disease_Homo sapiens_hsa05010	1.51558379
20	Retinol metabolism_Homo sapiens_hsa00830	1.51410816
21	Nitrogen metabolism_Homo sapiens_hsa00910	1.45994494
22	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.44883350
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.41180442
24	Glycerolipid metabolism_Homo sapiens_hsa00561	1.38542556
25	Basal cell carcinoma_Homo sapiens_hsa05217	1.34591992
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.34287004
27	Homologous recombination_Homo sapiens_hsa03440	1.33417469
28	Tryptophan metabolism_Homo sapiens_hsa00380	1.33264896
29	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.27215528
30	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.22865070
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.22480047
32	Huntingtons disease_Homo sapiens_hsa05016	1.22327131
33	Glutamatergic synapse_Homo sapiens_hsa04724	1.22238556
34	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.22088078
35	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.21121689
36	Fat digestion and absorption_Homo sapiens_hsa04975	1.18966508
37	Circadian entrainment_Homo sapiens_hsa04713	1.18670465
38	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.18370902
39	Taste transduction_Homo sapiens_hsa04742	1.15027803
40	GABAergic synapse_Homo sapiens_hsa04727	1.14861828
41	Melanoma_Homo sapiens_hsa05218	1.14294426
42	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.13361667
43	Olfactory transduction_Homo sapiens_hsa04740	1.12107716
44	Cholinergic synapse_Homo sapiens_hsa04725	1.11536361
45	RNA polymerase_Homo sapiens_hsa03020	1.10791169
46	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.03567162
47	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.02613938
48	Renin-angiotensin system_Homo sapiens_hsa04614	1.02237832
49	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.00251684
50	Axon guidance_Homo sapiens_hsa04360	0.99898829
51	Type II diabetes mellitus_Homo sapiens_hsa04930	0.99425076
52	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.98010747
53	Serotonergic synapse_Homo sapiens_hsa04726	0.93300676
54	Selenocompound metabolism_Homo sapiens_hsa00450	0.93151212
55	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.92725084
56	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.89733432
57	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.88418707
58	RNA degradation_Homo sapiens_hsa03018	0.85788535
59	Fanconi anemia pathway_Homo sapiens_hsa03460	0.83432350
60	Calcium signaling pathway_Homo sapiens_hsa04020	0.77185261
61	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.76044853
62	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.75964762
63	Gastric acid secretion_Homo sapiens_hsa04971	0.75638709
64	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.74476137
65	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.74260807
66	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.73184107
67	Dopaminergic synapse_Homo sapiens_hsa04728	0.72941664
68	Caffeine metabolism_Homo sapiens_hsa00232	0.72150856
69	Ether lipid metabolism_Homo sapiens_hsa00565	0.66141235
70	Basal transcription factors_Homo sapiens_hsa03022	0.64726417
71	Asthma_Homo sapiens_hsa05310	0.62076047
72	Primary immunodeficiency_Homo sapiens_hsa05340	0.59178015
73	Peroxisome_Homo sapiens_hsa04146	0.58930425
74	cAMP signaling pathway_Homo sapiens_hsa04024	0.56742487
75	Salivary secretion_Homo sapiens_hsa04970	0.56495581
76	MAPK signaling pathway_Homo sapiens_hsa04010	0.55903781
77	Histidine metabolism_Homo sapiens_hsa00340	0.54346792
78	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.51661831
79	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.50686947
80	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.49903622
81	Hippo signaling pathway_Homo sapiens_hsa04390	0.49291907
82	Renin secretion_Homo sapiens_hsa04924	0.48545177
83	Cocaine addiction_Homo sapiens_hsa05030	0.47877061
84	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.46577846
85	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.44399679
86	Nucleotide excision repair_Homo sapiens_hsa03420	0.43304852
87	Amphetamine addiction_Homo sapiens_hsa05031	0.42386866
88	Collecting duct acid secretion_Homo sapiens_hsa04966	0.41330535
89	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.40590217
90	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.39693789
91	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.38469461
92	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.38144073
93	Wnt signaling pathway_Homo sapiens_hsa04310	0.36503233
94	Metabolic pathways_Homo sapiens_hsa01100	0.36361802
95	Ras signaling pathway_Homo sapiens_hsa04014	0.35772336
96	Long-term depression_Homo sapiens_hsa04730	0.35561398
97	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.33889935
98	Steroid biosynthesis_Homo sapiens_hsa00100	0.33612299
99	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.32367206
100	Protein export_Homo sapiens_hsa03060	0.31544377

HTATSF1P1

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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