ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of tolerance induction (GO:0002645)	9.95743734
2	kynurenine metabolic process (GO:0070189)	8.93352028
3	regulation of tolerance induction (GO:0002643)	8.61423507
4	regulation of chronic inflammatory response (GO:0002676)	7.62614401
5	indole-containing compound catabolic process (GO:0042436)	7.22861148
6	indolalkylamine catabolic process (GO:0046218)	7.22861148
7	tryptophan catabolic process (GO:0006569)	7.22861148
8	heterotypic cell-cell adhesion (GO:0034113)	7.05341495
9	tryptophan metabolic process (GO:0006568)	6.13114379
10	positive regulation of type 2 immune response (GO:0002830)	6.11834674
11	negative regulation of interleukin-10 production (GO:0032693)	6.05658750
12	negative regulation of cytosolic calcium ion concentration (GO:0051481)	5.66871882
13	sodium ion export (GO:0071436)	5.57607543
14	relaxation of smooth muscle (GO:0044557)	5.25649778
15	* single fertilization (GO:0007338)	5.15272676
16	amine catabolic process (GO:0009310)	5.01885023
17	cellular biogenic amine catabolic process (GO:0042402)	5.01885023
18	aromatic amino acid family catabolic process (GO:0009074)	4.83150032
19	negative regulation of receptor-mediated endocytosis (GO:0048261)	4.53199293
20	detection of light stimulus involved in sensory perception (GO:0050962)	4.48822574
21	detection of light stimulus involved in visual perception (GO:0050908)	4.48822574
22	sialylation (GO:0097503)	4.47902243
23	indolalkylamine metabolic process (GO:0006586)	4.45108997
24	cellular sodium ion homeostasis (GO:0006883)	4.16359600
25	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	4.16286664
26	protein localization to synapse (GO:0035418)	4.06497403
27	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.01946786
28	synaptic vesicle exocytosis (GO:0016079)	4.01024128
29	negative regulation of T cell apoptotic process (GO:0070233)	3.99521167
30	negative regulation of interleukin-8 production (GO:0032717)	3.95939675
31	benzene-containing compound metabolic process (GO:0042537)	3.88801480
32	digestion (GO:0007586)	3.73513360
33	cellular potassium ion homeostasis (GO:0030007)	3.59039650
34	cell communication by electrical coupling (GO:0010644)	3.58799253
35	apical protein localization (GO:0045176)	3.51316521
36	retinal rod cell development (GO:0046548)	3.48563194
37	epithelial cell morphogenesis (GO:0003382)	3.44173999
38	negative regulation of endopeptidase activity (GO:0010951)	3.41303735
39	positive regulation of cell-cell adhesion (GO:0022409)	3.40504673
40	* fertilization (GO:0009566)	3.39012602
41	aromatic amino acid family metabolic process (GO:0009072)	3.38475429
42	regulation of clathrin-mediated endocytosis (GO:2000369)	3.31193566
43	potassium ion homeostasis (GO:0055075)	3.29640903
44	negative regulation of peptidase activity (GO:0010466)	3.26236541
45	N-acetylneuraminate metabolic process (GO:0006054)	3.25225199
46	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	3.22357131
47	indole-containing compound metabolic process (GO:0042430)	3.19559342
48	negative regulation of amyloid precursor protein catabolic process (GO:1902992)	3.17815559
49	transepithelial transport (GO:0070633)	3.17634786
50	reverse cholesterol transport (GO:0043691)	3.17212900
51	neuroblast proliferation (GO:0007405)	3.11067146
52	regulation of type 2 immune response (GO:0002828)	3.11009902
53	L-serine transport (GO:0015825)	3.10843677
54	exploration behavior (GO:0035640)	3.05163718
55	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	3.04183367
56	seminiferous tubule development (GO:0072520)	21.1190510
57	cellular anion homeostasis (GO:0030002)	2.87429820
58	serine transport (GO:0032329)	2.80309500
59	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.77641891
60	defense response to bacterium (GO:0042742)	2.74011157
61	synapse assembly (GO:0007416)	2.70670731
62	nitric oxide mediated signal transduction (GO:0007263)	2.68221563
63	regulation of macrophage activation (GO:0043030)	2.67026778
64	sodium ion homeostasis (GO:0055078)	2.64885839
65	negative regulation of protein autophosphorylation (GO:0031953)	2.62199778
66	cell communication involved in cardiac conduction (GO:0086065)	2.54548119
67	positive regulation of gastrulation (GO:2000543)	2.51186953
68	synaptic vesicle maturation (GO:0016188)	2.49605035
69	response to caffeine (GO:0031000)	2.44399319
70	positive regulation of interleukin-12 production (GO:0032735)	2.41039667
71	regulation of beta-amyloid formation (GO:1902003)	2.40066984
72	regulation of synaptic vesicle exocytosis (GO:2000300)	2.38090983
73	sulfur amino acid catabolic process (GO:0000098)	2.36232935
74	high-density lipoprotein particle remodeling (GO:0034375)	2.36107126
75	innervation (GO:0060384)	2.34978463
76	response to bacterium (GO:0009617)	2.34223918
77	phospholipid homeostasis (GO:0055091)	2.33947176
78	atrial cardiac muscle cell action potential (GO:0086014)	2.33330340
79	neutral amino acid transport (GO:0015804)	2.32575018
80	positive regulation of synapse maturation (GO:0090129)	2.32106274
81	retinal cone cell development (GO:0046549)	2.31789064
82	O-glycan processing (GO:0016266)	2.29721684
83	asymmetric protein localization (GO:0008105)	2.29550145
84	negative regulation of interleukin-6 production (GO:0032715)	2.28506575
85	negative regulation of lymphocyte apoptotic process (GO:0070229)	2.25971191
86	regulation of lipoprotein metabolic process (GO:0050746)	2.25707755
87	vocalization behavior (GO:0071625)	2.25461510
88	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.24884093
89	dicarboxylic acid biosynthetic process (GO:0043650)	2.23715793
90	hormone catabolic process (GO:0042447)	2.23171180
91	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.23065912
92	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.23027034
93	negative regulation of endocytosis (GO:0045806)	2.20660177
94	pentose-phosphate shunt (GO:0006098)	2.18995776
95	lactate metabolic process (GO:0006089)	2.18684901
96	C4-dicarboxylate transport (GO:0015740)	2.17504330
97	negative regulation of proteolysis (GO:0045861)	2.17273880
98	synaptic vesicle endocytosis (GO:0048488)	2.16787268
99	regulation of T cell tolerance induction (GO:0002664)	11.7209725
100	production of molecular mediator involved in inflammatory response (GO:0002532)	11.6547276

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	IKZF1_21737484_ChIP-ChIP_HCT116_Human	3.95634602
2	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.41390135
3	AR_21572438_ChIP-Seq_LNCaP_Human	3.20645476
4	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.89003444
5	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.69991595
6	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.46943094
7	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.36540315
8	DROSHA_22980978_ChIP-Seq_HELA_Human	2.34154475
9	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.18092397
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.10576424
11	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.99892676
12	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.99892676
13	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99215505
14	GBX2_23144817_ChIP-Seq_PC3_Human	1.96976777
15	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.94102324
16	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.89027700
17	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.85223945
18	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.79921764
19	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.79144270
20	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.77779597
21	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.77411982
22	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.75121847
23	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.74434234
24	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.73626300
25	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.73462788
26	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	1.69272591
27	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.68885144
28	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.65481024
29	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.63489221
30	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.63200600
31	GATA3_21867929_ChIP-Seq_TH1_Mouse	1.63015194
32	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.62718061
33	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.55166192
34	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.54091673
35	SMAD1_18555785_Chip-Seq_ESCs_Mouse	1.51829884
36	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.48257448
37	REST_21632747_ChIP-Seq_MESCs_Mouse	1.45291263
38	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.45018678
39	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.44829473
40	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.44588107
41	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.43949791
42	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.43717351
43	ESRRB_18555785_Chip-Seq_ESCs_Mouse	1.41079129
44	SOX2_22085726_ChIP-Seq_NPCs_Mouse	1.38379147
45	STAT1_17558387_ChIP-Seq_HELA_Human	1.37124660
46	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.35976893
47	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.35648647
48	ZNF263_19887448_ChIP-Seq_K562_Human	1.35189286
49	KDM2B_26808549_Chip-Seq_REH_Human	1.35178625
50	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	1.34355131
51	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.28411538
52	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.28172307
53	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.28034123
54	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.27964927
55	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.27804168
56	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.25963044
57	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.25823210
58	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.24255627
59	REST_19997604_ChIP-ChIP_NEURONS_Mouse	1.24140733
60	RNF2_27304074_Chip-Seq_NSC_Mouse	1.22989708
61	FLI1_21867929_ChIP-Seq_CD8_Mouse	1.21999063
62	PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse	1.21597181
63	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.21370830
64	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.19675003
65	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.18023235
66	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.16952105
67	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.16303725
68	CLOCK_20551151_ChIP-Seq_293T_Human	1.16208606
69	P68_20966046_ChIP-Seq_HELA_Human	1.14717870
70	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.14112762
71	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.14112762
72	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.12325912
73	MYC_27129775_Chip-Seq_CORNEA_Mouse	1.11993154
74	VDR_24787735_ChIP-Seq_THP-1_Human	1.06240039
75	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.04979905
76	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04917128
77	SMC4_20622854_ChIP-Seq_HELA_Human	1.03191856
78	NR3C1_23031785_ChIP-Seq_PC12_Mouse	0.99022298
79	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.98860955
80	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.96724700
81	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.96470489
82	CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.95662864
83	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	0.93678379
84	RUNX1_27457419_Chip-Seq_LIVER_Mouse	0.93426977
85	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.93238273
86	* CBX2_27304074_Chip-Seq_ESCs_Mouse	0.92824798
87	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	0.92218384
88	NANOG_20526341_ChIP-Seq_ESCs_Human	0.91929231
89	GATA3_21867929_ChIP-Seq_CD8_Mouse	0.91595523
90	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.91168959
91	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.90574942
92	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.90565960
93	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.89820675
94	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.89743243
95	AR_19668381_ChIP-Seq_PC3_Human	0.89488672
96	HTT_18923047_ChIP-ChIP_STHdh_Human	0.89190773
97	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.86545160
98	MYC_19915707_ChIP-ChIP_AK7_Human	0.86211206
99	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.86029826
100	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	0.85174165

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001984_abnormal_olfaction	4.35050650
2	MP0005551_abnormal_eye_electrophysiolog	4.27845102
3	MP0002090_abnormal_vision	3.85964064
4	MP0004043_abnormal_pH_regulation	3.58742393
5	MP0003303_peritoneal_inflammation	3.56539345
6	MP0003195_calcinosis	3.38066909
7	MP0010234_abnormal_vibrissa_follicle	3.18519063
8	MP0005670_abnormal_white_adipose	3.02794846
9	MP0002254_reproductive_system_inflammat	2.97689298
10	MP0006072_abnormal_retinal_apoptosis	2.63613488
11	MP0005410_abnormal_fertilization	2.41950174
12	MP0004782_abnormal_surfactant_physiolog	2.36534614
13	MP0003329_amyloid_beta_deposits	2.34427791
14	MP0008775_abnormal_heart_ventricle	2.22051246
15	MP0003950_abnormal_plasma_membrane	2.20238516
16	MP0002139_abnormal_hepatobiliary_system	2.14225338
17	MP0000003_abnormal_adipose_tissue	2.01146016
18	MP0005360_urolithiasis	1.97998640
19	MP0004084_abnormal_cardiac_muscle	1.94915835
20	MP0004036_abnormal_muscle_relaxation	1.91805030
21	MP0005253_abnormal_eye_physiology	1.89296071
22	MP0002234_abnormal_pharynx_morphology	1.85966162
23	MP0005195_abnormal_posterior_eye	1.85592288
24	MP0001502_abnormal_circadian_rhythm	1.82034944
25	MP0001486_abnormal_startle_reflex	1.81936303
26	MP0004215_abnormal_myocardial_fiber	1.79787432
27	MP0003880_abnormal_central_pattern	1.75053846
28	MP0005365_abnormal_bile_salt	1.73447517
29	MP0005058_abnormal_lysosome_morphology	1.70017451
30	MP0009780_abnormal_chondrocyte_physiolo	1.64352276
31	MP0004859_abnormal_synaptic_plasticity	1.64212113
32	MP0003011_delayed_dark_adaptation	1.61963572
33	MP0002168_other_aberrant_phenotype	1.56687760
34	MP0002653_abnormal_ependyma_morphology	1.46918633
35	MP0002064_seizures	1.46477334
36	MP0003635_abnormal_synaptic_transmissio	1.46449191
37	MP0000534_abnormal_ureter_morphology	1.45776502
38	MP0002272_abnormal_nervous_system	1.43777917
39	MP0010329_abnormal_lipoprotein_level	1.39492060
40	MP0005375_adipose_tissue_phenotype	1.37259022
41	MP0004233_abnormal_muscle_weight	1.35083264
42	MP0000604_amyloidosis	1.31351422
43	MP0002734_abnormal_mechanical_nocicepti	1.31297103
44	MP0001501_abnormal_sleep_pattern	1.29858593
45	MP0001440_abnormal_grooming_behavior	1.28230984
46	MP0003137_abnormal_impulse_conducting	1.25710090
47	MP0001324_abnormal_eye_pigmentation	1.21440674
48	MP0001968_abnormal_touch/_nociception	1.21037025
49	MP0003698_abnormal_male_reproductive	1.19457261
50	MP0002229_neurodegeneration	1.19451398
51	MP0004885_abnormal_endolymph	1.14835355
52	MP0002067_abnormal_sensory_capabilities	1.14706193
53	MP0000566_synostosis	1.13836702
54	MP0004270_analgesia	1.13119445
55	MP0002876_abnormal_thyroid_physiology	1.12032354
56	MP0003634_abnormal_glial_cell	1.10666684
57	MP0003221_abnormal_cardiomyocyte_apopto	1.10391978
58	MP0002063_abnormal_learning/memory/cond	1.10201473
59	MP0005595_abnormal_vascular_smooth	1.08739033
60	MP0009046_muscle_twitch	1.03033416
61	MP0010030_abnormal_orbit_morphology	0.99934701
62	MP0009745_abnormal_behavioral_response	0.99574514
63	MP0003879_abnormal_hair_cell	0.99456992
64	MP0009672_abnormal_birth_weight	0.99049563
65	MP0008569_lethality_at_weaning	0.96981765
66	MP0001765_abnormal_ion_homeostasis	0.95766796
67	MP0002752_abnormal_somatic_nervous	0.92888435
68	MP0002009_preneoplasia	0.91638900
69	MP0004145_abnormal_muscle_electrophysio	0.90548088
70	MP0005584_abnormal_enzyme/coenzyme_acti	0.88865691
71	MP0000631_abnormal_neuroendocrine_gland	0.88485414
72	MP0003183_abnormal_peptide_metabolism	0.88316294
73	MP0002736_abnormal_nociception_after	0.86287632
74	MP0002069_abnormal_eating/drinking_beha	0.85263893
75	MP0001853_heart_inflammation	0.85250686
76	MP0002089_abnormal_postnatal_growth/wei	0.84925163
77	MP0004742_abnormal_vestibular_system	0.84276840
78	MP0002882_abnormal_neuron_morphology	0.84194912
79	MP0003633_abnormal_nervous_system	0.84138941
80	MP0001970_abnormal_pain_threshold	0.82702629
81	MP0002572_abnormal_emotion/affect_behav	0.78958702
82	MP0005620_abnormal_muscle_contractility	0.78931925
83	MP0005423_abnormal_somatic_nervous	0.77883969
84	MP0001661_extended_life_span	0.75190469
85	MP0004130_abnormal_muscle_cell	0.74826997
86	MP0001756_abnormal_urination	0.74154648
87	MP0005391_vision/eye_phenotype	0.73607492
88	MP0010386_abnormal_urinary_bladder	0.73508562
89	MP0002557_abnormal_social/conspecific_i	0.71384724
90	MP0003631_nervous_system_phenotype	0.70130938
91	MP0002909_abnormal_adrenal_gland	0.69678905
92	MP0003690_abnormal_glial_cell	0.69310467
93	MP0002735_abnormal_chemical_nociception	0.69221833
94	MP0005666_abnormal_adipose_tissue	0.67949796
95	MP0000920_abnormal_myelination	0.67594156
96	MP0006292_abnormal_olfactory_placode	0.66248199
97	MP0002066_abnormal_motor_capabilities/c	0.65697688
98	MP0008875_abnormal_xenobiotic_pharmacok	0.64253928
99	MP0000955_abnormal_spinal_cord	0.63905479
100	MP0002118_abnormal_lipid_homeostasis	0.63534248

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Central scotoma (HP:0000603)	6.11145531
2	Bony spicule pigmentary retinopathy (HP:0007737)	5.95047384
3	Abnormality of macular pigmentation (HP:0008002)	4.91795551
4	Septo-optic dysplasia (HP:0100842)	4.84860517
5	Scotoma (HP:0000575)	4.74819309
6	Abnormal rod and cone electroretinograms (HP:0008323)	4.58098934
7	Abnormality of the fovea (HP:0000493)	3.99904756
8	Action tremor (HP:0002345)	3.81467082
9	Myokymia (HP:0002411)	3.79271204
10	Congenital sensorineural hearing impairment (HP:0008527)	3.71357455
11	Exercise-induced myalgia (HP:0003738)	3.69197248
12	Abnormal gallbladder physiology (HP:0012438)	3.67588154
13	Cholecystitis (HP:0001082)	3.67588154
14	Decreased central vision (HP:0007663)	3.55219754
15	Epileptic encephalopathy (HP:0200134)	3.40771144
16	Abnormality of abdominal situs (HP:0011620)	3.32161403
17	Abdominal situs inversus (HP:0003363)	3.32161403
18	Hemiparesis (HP:0001269)	3.31273459
19	Vascular calcification (HP:0004934)	3.28908408
20	Choroideremia (HP:0001139)	3.25052600
21	Exercise-induced muscle cramps (HP:0003710)	3.13252514
22	Hypophosphatemic rickets (HP:0004912)	3.09800743
23	Myocardial infarction (HP:0001658)	3.08677847
24	Prolonged QT interval (HP:0001657)	3.04506539
25	Myoglobinuria (HP:0002913)	3.03148926
26	Cardiovascular calcification (HP:0011915)	2.99733471
27	Potter facies (HP:0002009)	2.97571999
28	Facial shape deformation (HP:0011334)	2.97571999
29	Gastrointestinal dysmotility (HP:0002579)	2.97442036
30	Neurofibrillary tangles (HP:0002185)	2.93793330
31	Mutism (HP:0002300)	2.90639128
32	Agitation (HP:0000713)	2.84516374
33	Hemiplegia (HP:0002301)	2.81963732
34	Neoplasm of the heart (HP:0100544)	2.81654808
35	Complement deficiency (HP:0004431)	2.79874885
36	Malnutrition (HP:0004395)	2.79847316
37	Depression (HP:0000716)	2.65992280
38	Intention tremor (HP:0002080)	2.58397246
39	Supranuclear gaze palsy (HP:0000605)	2.56583164
40	Cerebral inclusion bodies (HP:0100314)	2.52816936
41	Flat cornea (HP:0007720)	2.35563257
42	Attenuation of retinal blood vessels (HP:0007843)	2.33889010
43	Febrile seizures (HP:0002373)	2.33196049
44	Thin bony cortex (HP:0002753)	2.29286376
45	Severe Myopia (HP:0011003)	2.22233614
46	Chorioretinal atrophy (HP:0000533)	2.22117242
47	Absent septum pellucidum (HP:0001331)	2.18610797
48	Abnormal pupillary function (HP:0007686)	2.17882746
49	Broad metatarsal (HP:0001783)	2.16295485
50	Sensorimotor neuropathy (HP:0007141)	2.15851519
51	Abnormality of vision evoked potentials (HP:0000649)	2.14900437
52	Rickets (HP:0002748)	2.14882139
53	Visual hallucinations (HP:0002367)	2.12717543
54	Choreoathetosis (HP:0001266)	2.12183806
55	Cholelithiasis (HP:0001081)	2.11908389
56	Progressive cerebellar ataxia (HP:0002073)	2.10093719
57	Increased cerebral lipofuscin (HP:0011813)	2.07607885
58	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.02262194
59	Anxiety (HP:0000739)	2.00217185
60	Congenital stationary night blindness (HP:0007642)	11.0066542
61	Excessive salivation (HP:0003781)	1.97220400
62	Drooling (HP:0002307)	1.97220400
63	Dysdiadochokinesis (HP:0002075)	1.96645131
64	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.95439205
65	Widely patent fontanelles and sutures (HP:0004492)	1.93516037
66	Optic nerve hypoplasia (HP:0000609)	1.92560739
67	Osteomalacia (HP:0002749)	1.91959896
68	Abnormal gallbladder morphology (HP:0012437)	1.91120305
69	Abnormality of the sella turcica (HP:0002679)	1.88531635
70	Delusions (HP:0000746)	1.86250125
71	Abnormal EKG (HP:0003115)	1.85202242
72	Gout (HP:0001997)	1.84988373
73	Elfin facies (HP:0004428)	1.82413131
74	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.82182129
75	Cone-rod dystrophy (HP:0000548)	1.81263845
76	Recurrent gram-negative bacterial infections (HP:0005420)	1.80150228
77	Megalocornea (HP:0000485)	1.78423589
78	Loss of speech (HP:0002371)	1.77868773
79	Enlarged penis (HP:0000040)	1.77148320
80	Fatigue (HP:0012378)	1.76376225
81	Ulnar claw (HP:0001178)	1.73718880
82	Restlessness (HP:0000711)	1.72294756
83	Abnormality of complement system (HP:0005339)	1.70754219
84	Infantile muscular hypotonia (HP:0008947)	1.69204906
85	Upper limb muscle weakness (HP:0003484)	1.68525446
86	Absence seizures (HP:0002121)	1.68458492
87	Deep venous thrombosis (HP:0002625)	1.68241714
88	Increased variability in muscle fiber diameter (HP:0003557)	1.67568368
89	Polar cataract (HP:0010696)	1.67358254
90	Ankle clonus (HP:0011448)	1.67050196
91	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.65641155
92	Ventricular fibrillation (HP:0001663)	1.63253438
93	Muscle stiffness (HP:0003552)	1.63103342
94	Macular degeneration (HP:0000608)	1.62120652
95	Segmental peripheral demyelination/remyelination (HP:0003481)	1.61800094
96	Abnormality of the septum pellucidum (HP:0007375)	1.59729809
97	Ketosis (HP:0001946)	1.58860184
98	Asymmetric septal hypertrophy (HP:0001670)	1.58261091
99	Abolished electroretinogram (ERG) (HP:0000550)	1.57928662
100	Increased corneal curvature (HP:0100692)	1.57727409

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PRPF4B	4.21519783
2	FRK	3.39539436
3	PHKG1	3.27827545
4	PHKG2	3.27827545
5	INSRR	3.25772707
6	PAK6	2.91166211
7	FGFR2	2.66124570
8	PAK3	2.64776861
9	TAOK2	2.58720868
10	TNK2	1.91307738
11	LMTK2	1.90845535
12	MST4	1.80975743
13	ERN1	1.75095194
14	FER	1.65272537
15	EPHA3	1.64213940
16	SIK1	1.61262999
17	NEK1	1.55129171
18	TAOK3	1.47229177
19	STK38	1.38312903
20	EPHB1	1.38061998
21	DYRK1A	1.37049036
22	LATS1	1.35471969
23	MAP3K7	1.32637677
24	NTRK1	1.31476996
25	MAP3K4	1.30432919
26	BCKDK	1.16702645
27	MAP3K6	1.16011032
28	PKN2	1.14016614
29	KSR2	1.09824115
30	PRKCG	1.05840505
31	STK39	1.05284895
32	MAP2K4	1.05049944
33	MINK1	1.03010970
34	BMX	1.02480792
35	DYRK1B	1.00583101
36	ICK	0.98034467
37	IRAK2	0.96126927
38	MARK1	0.92316825
39	WNK4	0.92164664
40	TRIB3	0.90955231
41	RIPK1	0.88959004
42	NTRK2	0.87096637
43	PTK2	0.85578572
44	NTRK3	0.82949934
45	FGFR4	0.82451908
46	TNIK	0.82323428
47	GRK1	0.81825469
48	CDK5	0.79943443
49	PRKCZ	0.77743479
50	LRRK2	0.76387845
51	ROCK2	0.75129028
52	EPHA2	0.72750486
53	FGFR3	0.67202930
54	RPS6KA5	0.65465189
55	RET	0.65359102
56	CAMK1G	0.64644546
57	EPHA4	0.64438668
58	LATS2	0.64129814
59	INSR	0.63742914
60	CAMK1	0.61772038
61	SRC	0.60647669
62	PTK2B	0.60193528
63	PRKG1	0.60127109
64	CSNK1E	0.59608717
65	PRKAA1	0.59305974
66	RIPK4	0.58577218
67	CDK14	0.57983678
68	CDK15	0.57334065
69	FYN	0.56645711
70	WNK1	0.55907505
71	CAMKK1	0.55891000
72	DDR2	0.55466440
73	CAMK2D	0.54879071
74	PKN1	0.54159268
75	TTN	0.53754286
76	CLK1	0.52969446
77	PDGFRA	0.51818897
78	CAMK1D	0.51597827
79	PRKAA2	0.50334449
80	CDK18	0.50276167
81	PRKACG	0.50071074
82	PRKCA	0.48963781
83	MARK2	0.47827503
84	PRKCH	0.47592176
85	CDK11A	0.47310724
86	RPS6KA3	0.47237844
87	PTK6	0.46923680
88	STK38L	0.46336127
89	PRKACA	0.45492075
90	PRKD3	0.43251298
91	PRKCE	0.42810295
92	PRKACB	0.42703280
93	ROCK1	0.41874248
94	MYLK	0.40411024
95	MAP2K1	0.38926862
96	FES	0.38241323
97	PAK2	0.37979525
98	JAK1	0.37745338
99	PRKD1	0.33868182
100	TYRO3	0.33541476

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	3.34042808
2	Nicotine addiction_Homo sapiens_hsa05033	3.10816926
3	Glutathione metabolism_Homo sapiens_hsa00480	2.88634895
4	GABAergic synapse_Homo sapiens_hsa04727	2.85900311
5	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.83144356
6	Thyroid hormone synthesis_Homo sapiens_hsa04918	2.80637337
7	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.79492283
8	Tryptophan metabolism_Homo sapiens_hsa00380	2.53758921
9	Arachidonic acid metabolism_Homo sapiens_hsa00590	2.53464750
10	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	2.43063862
11	African trypanosomiasis_Homo sapiens_hsa05143	2.39013969
12	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.08969817
13	Morphine addiction_Homo sapiens_hsa05032	2.06920244
14	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.06518009
15	Salivary secretion_Homo sapiens_hsa04970	1.98497414
16	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.76454043
17	Circadian entrainment_Homo sapiens_hsa04713	1.75357624
18	Renin secretion_Homo sapiens_hsa04924	1.60297614
19	Fatty acid metabolism_Homo sapiens_hsa01212	1.57821152
20	Arginine biosynthesis_Homo sapiens_hsa00220	1.48184141
21	Fatty acid degradation_Homo sapiens_hsa00071	1.43449488
22	PPAR signaling pathway_Homo sapiens_hsa03320	1.38564768
23	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.32214956
24	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.27584238
25	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.25889401
26	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.20955376
27	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.20471992
28	Olfactory transduction_Homo sapiens_hsa04740	1.15569542
29	Insulin secretion_Homo sapiens_hsa04911	1.15079131
30	Phototransduction_Homo sapiens_hsa04744	1.14736449
31	Cholinergic synapse_Homo sapiens_hsa04725	1.11463086
32	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.11262403
33	Bile secretion_Homo sapiens_hsa04976	1.10975784
34	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.09799519
35	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.09771336
36	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.07511236
37	Glutamatergic synapse_Homo sapiens_hsa04724	1.05801349
38	Collecting duct acid secretion_Homo sapiens_hsa04966	1.02815488
39	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.99318212
40	Gastric acid secretion_Homo sapiens_hsa04971	0.96059725
41	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.95560445
42	Glycerolipid metabolism_Homo sapiens_hsa00561	0.91440485
43	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.89631996
44	Cardiac muscle contraction_Homo sapiens_hsa04260	0.87120107
45	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.86817829
46	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.85095937
47	Carbon metabolism_Homo sapiens_hsa01200	0.84725514
48	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.83789350
49	Dopaminergic synapse_Homo sapiens_hsa04728	0.82677187
50	Lysosome_Homo sapiens_hsa04142	0.82114657
51	Phenylalanine metabolism_Homo sapiens_hsa00360	0.80822983
52	Vibrio cholerae infection_Homo sapiens_hsa05110	0.76017299
53	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.75977883
54	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.75854693
55	Mineral absorption_Homo sapiens_hsa04978	0.71609067
56	Calcium signaling pathway_Homo sapiens_hsa04020	0.70177281
57	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.68794952
58	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.65829143
59	Estrogen signaling pathway_Homo sapiens_hsa04915	0.65251583
60	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.64650610
61	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.63818260
62	Sulfur metabolism_Homo sapiens_hsa00920	0.62895047
63	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.62621855
64	Pyruvate metabolism_Homo sapiens_hsa00620	0.61432413
65	Long-term potentiation_Homo sapiens_hsa04720	0.60753747
66	cAMP signaling pathway_Homo sapiens_hsa04024	0.60421975
67	Complement and coagulation cascades_Homo sapiens_hsa04610	0.59421522
68	Pentose phosphate pathway_Homo sapiens_hsa00030	0.58366635
69	Type II diabetes mellitus_Homo sapiens_hsa04930	0.58041275
70	ABC transporters_Homo sapiens_hsa02010	0.57839340
71	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.57647040
72	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.57213101
73	Propanoate metabolism_Homo sapiens_hsa00640	0.54927227
74	Amphetamine addiction_Homo sapiens_hsa05031	0.54828402
75	Glucagon signaling pathway_Homo sapiens_hsa04922	0.54173308
76	Taste transduction_Homo sapiens_hsa04742	0.53858426
77	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.53660546
78	Fatty acid elongation_Homo sapiens_hsa00062	0.51150950
79	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.49620798
80	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.48016647
81	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.47273935
82	Gap junction_Homo sapiens_hsa04540	0.43143078
83	Tyrosine metabolism_Homo sapiens_hsa00350	0.42111476
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.41437627
85	Serotonergic synapse_Homo sapiens_hsa04726	0.40505321
86	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.40500176
87	Long-term depression_Homo sapiens_hsa04730	0.39855565
88	GnRH signaling pathway_Homo sapiens_hsa04912	0.39411664
89	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.39053724
90	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.38584417
91	Prion diseases_Homo sapiens_hsa05020	0.37364861
92	Chemical carcinogenesis_Homo sapiens_hsa05204	0.34696980
93	Arginine and proline metabolism_Homo sapiens_hsa00330	0.33453494
94	Peroxisome_Homo sapiens_hsa04146	0.32389256
95	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.31767215
96	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.30816546
97	Butanoate metabolism_Homo sapiens_hsa00650	0.29335525
98	beta-Alanine metabolism_Homo sapiens_hsa00410	0.29290000
99	Pancreatic secretion_Homo sapiens_hsa04972	0.28684527
100	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.28671183

BSPH1

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)

Most similar genes based on co-expression Upload to Enrichr

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