ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tachykinin receptor signaling pathway (GO:0007217)	9.76579788
2	positive regulation of digestive system process (GO:0060456)	6.14384672
3	detection of light stimulus involved in sensory perception (GO:0050962)	4.68534180
4	detection of light stimulus involved in visual perception (GO:0050908)	4.68534180
5	cochlea development (GO:0090102)	4.42021494
6	response to histamine (GO:0034776)	4.14019398
7	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.11427479
8	adaptation of signaling pathway (GO:0023058)	4.06134744
9	cornea development in camera-type eye (GO:0061303)	3.84344342
10	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.80839280
11	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	3.76617688
12	piRNA metabolic process (GO:0034587)	3.75463895
13	regulation of cilium movement (GO:0003352)	3.72595081
14	flavonoid metabolic process (GO:0009812)	3.68681239
15	sperm motility (GO:0030317)	3.47287997
16	multicellular organism reproduction (GO:0032504)	3.46183051
17	proline transport (GO:0015824)	3.45591677
18	DNA methylation involved in gamete generation (GO:0043046)	3.44601618
19	retinal cone cell development (GO:0046549)	3.43784708
20	behavioral response to nicotine (GO:0035095)	3.37951187
21	fucose catabolic process (GO:0019317)	3.34582329
22	L-fucose metabolic process (GO:0042354)	3.34582329
23	L-fucose catabolic process (GO:0042355)	3.34582329
24	sulfation (GO:0051923)	3.34485009
25	righting reflex (GO:0060013)	3.33870506
26	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.32715675
27	protein polyglutamylation (GO:0018095)	3.30383783
28	reflex (GO:0060004)	3.27232270
29	behavioral response to ethanol (GO:0048149)	3.26908430
30	NAD biosynthetic process (GO:0009435)	3.26098295
31	negative regulation of systemic arterial blood pressure (GO:0003085)	3.23243133
32	RNA destabilization (GO:0050779)	3.22193962
33	protein K11-linked deubiquitination (GO:0035871)	3.16258895
34	regulation of germinal center formation (GO:0002634)	3.16235704
35	axoneme assembly (GO:0035082)	3.16142045
36	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.12987007
37	rhodopsin mediated signaling pathway (GO:0016056)	3.12320696
38	establishment of protein localization to Golgi (GO:0072600)	3.05934274
39	photoreceptor cell maintenance (GO:0045494)	3.03406704
40	gamma-aminobutyric acid transport (GO:0015812)	3.03009293
41	indolalkylamine metabolic process (GO:0006586)	2.99738755
42	cilium or flagellum-dependent cell motility (GO:0001539)	2.99445109
43	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.97119826
44	brain morphogenesis (GO:0048854)	2.95615436
45	protein-chromophore linkage (GO:0018298)	2.93669564
46	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.93455836
47	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.91924718
48	negative regulation of smooth muscle cell differentiation (GO:0051151)	2.91785650
49	auditory receptor cell stereocilium organization (GO:0060088)	2.91110010
50	acrosome reaction (GO:0007340)	2.90424383
51	transmission of nerve impulse (GO:0019226)	2.90179975
52	inner ear receptor cell development (GO:0060119)	2.83193370
53	cellular ketone body metabolic process (GO:0046950)	2.81921379
54	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.79365486
55	chemosensory behavior (GO:0007635)	2.73797127
56	tryptophan catabolic process (GO:0006569)	2.72021814
57	indole-containing compound catabolic process (GO:0042436)	2.72021814
58	indolalkylamine catabolic process (GO:0046218)	2.72021814
59	cell differentiation involved in metanephros development (GO:0072202)	2.71158109
60	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.70027408
61	central nervous system projection neuron axonogenesis (GO:0021952)	2.69767781
62	protein targeting to Golgi (GO:0000042)	2.68570869
63	dopamine transport (GO:0015872)	2.68426009
64	central nervous system neuron axonogenesis (GO:0021955)	2.67222076
65	membrane depolarization during action potential (GO:0086010)	2.64857132
66	neuronal action potential (GO:0019228)	2.64807442
67	postsynaptic membrane organization (GO:0001941)	2.63950201
68	tryptophan metabolic process (GO:0006568)	2.60133465
69	regulation of hippo signaling (GO:0035330)	2.59953882
70	positive regulation of guanylate cyclase activity (GO:0031284)	2.57337837
71	serotonin receptor signaling pathway (GO:0007210)	2.56807984
72	cAMP catabolic process (GO:0006198)	2.56507672
73	inner ear receptor stereocilium organization (GO:0060122)	2.55129491
74	innervation (GO:0060384)	2.54545180
75	primary amino compound metabolic process (GO:1901160)	2.54389355
76	regulation of digestive system process (GO:0044058)	2.54154429
77	regulation of microtubule-based movement (GO:0060632)	2.52727137
78	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.51379635
79	mesenchymal cell differentiation involved in renal system development (GO:2001012)	2.51133096
80	mesenchymal cell differentiation involved in kidney development (GO:0072161)	2.51133096
81	nucleobase catabolic process (GO:0046113)	2.51031005
82	negative regulation of astrocyte differentiation (GO:0048712)	2.50070829
83	ketone body metabolic process (GO:1902224)	2.49532260
84	sensory perception of light stimulus (GO:0050953)	2.48670016
85	visual perception (GO:0007601)	2.47727624
86	cellular response to ammonium ion (GO:0071242)	2.47170722
87	cilium morphogenesis (GO:0060271)	2.47154947
88	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.46507912
89	peristalsis (GO:0030432)	2.46195171
90	transepithelial transport (GO:0070633)	2.46133678
91	phasic smooth muscle contraction (GO:0014821)	2.46039838
92	neuron-neuron synaptic transmission (GO:0007270)	2.45892311
93	epithelial cilium movement (GO:0003351)	2.43898014
94	indole-containing compound metabolic process (GO:0042430)	2.43364715
95	vocalization behavior (GO:0071625)	2.43075535
96	cilium movement (GO:0003341)	2.41640814
97	behavioral response to cocaine (GO:0048148)	2.41039472
98	glycine transport (GO:0015816)	2.39765423
99	pyrimidine nucleobase catabolic process (GO:0006208)	2.39531992
100	oxidative demethylation (GO:0070989)	2.38699853

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	3.62841417
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.10381753
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.98652393
4	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.71310948
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.66562983
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.62134346
7	VDR_22108803_ChIP-Seq_LS180_Human	2.57122274
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.57018943
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.47731996
10	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.22125460
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.21954572
12	P300_19829295_ChIP-Seq_ESCs_Human	2.20772743
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.19432299
14	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.94895345
15	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.94708340
16	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.93791369
17	BCAT_22108803_ChIP-Seq_LS180_Human	1.87372165
18	TAF15_26573619_Chip-Seq_HEK293_Human	1.85627795
19	FUS_26573619_Chip-Seq_HEK293_Human	1.85555077
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.85087873
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.82084546
22	* STAT3_23295773_ChIP-Seq_U87_Human	1.79233240
23	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.75760547
24	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.74809530
25	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.74809530
26	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.74015420
27	CBP_20019798_ChIP-Seq_JUKART_Human	1.74015420
28	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73085858
29	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.72563586
30	* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.69143686
31	TCF4_23295773_ChIP-Seq_U87_Human	1.68814804
32	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.67651714
33	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.67430408
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.66317331
35	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.57767979
36	EWS_26573619_Chip-Seq_HEK293_Human	1.53343075
37	AR_25329375_ChIP-Seq_VCAP_Human	1.51195413
38	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.50734513
39	TCF4_22108803_ChIP-Seq_LS180_Human	1.50714996
40	REST_21632747_ChIP-Seq_MESCs_Mouse	1.49430058
41	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.45357804
42	RNF2_27304074_Chip-Seq_NSC_Mouse	1.45055216
43	AR_21572438_ChIP-Seq_LNCaP_Human	1.44068027
44	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.43486512
45	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.40846050
46	RUNX2_22187159_ChIP-Seq_PCA_Human	1.38772673
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.37479071
48	NANOG_19829295_ChIP-Seq_ESCs_Human	1.37479071
49	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36865877
50	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.36306899
51	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35811400
52	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.35212929
53	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.34829754
54	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.30400419
55	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.29445527
56	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.28491791
57	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.28483666
58	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.28225493
59	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.25822873
60	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.25113583
61	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.25062721
62	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22838885
63	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.22538837
64	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.21158361
65	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.19294147
66	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.17602373
67	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.17080582
68	RXR_22108803_ChIP-Seq_LS180_Human	1.17008569
69	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.16137041
70	CDX2_22108803_ChIP-Seq_LS180_Human	1.15939797
71	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.15465183
72	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.14180896
73	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.13794080
74	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.13730083
75	AHR_22903824_ChIP-Seq_MCF-7_Human	1.12822729
76	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.12700184
77	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.11594013
78	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.11037710
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.10593228
80	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.10230528
81	DROSHA_22980978_ChIP-Seq_HELA_Human	1.09546561
82	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.09394605
83	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.09204981
84	KDM2B_26808549_Chip-Seq_REH_Human	1.08581207
85	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.08547821
86	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06949470
87	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.05820768
88	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.05789590
89	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.05613446
90	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.04144530
91	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.04144530
92	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.04028631
93	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.03722927
94	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.02457111
95	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.01706609
96	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01304412
97	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.00944779
98	P53_22387025_ChIP-Seq_ESCs_Mouse	1.00551686
99	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.00549987
100	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.99784555

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	4.49474313
2	MP0001501_abnormal_sleep_pattern	3.69704287
3	MP0005551_abnormal_eye_electrophysiolog	2.87685296
4	MP0009780_abnormal_chondrocyte_physiolo	2.73176673
5	MP0000569_abnormal_digit_pigmentation	2.63863689
6	MP0001968_abnormal_touch/_nociception	2.55240071
7	MP0003880_abnormal_central_pattern	2.42887777
8	MP0002138_abnormal_hepatobiliary_system	2.33606057
9	MP0006276_abnormal_autonomic_nervous	2.25971633
10	MP0008872_abnormal_physiological_respon	2.22526479
11	MP0009046_muscle_twitch	2.19124042
12	MP0003646_muscle_fatigue	2.18692726
13	MP0002735_abnormal_chemical_nociception	2.16621724
14	MP0009745_abnormal_behavioral_response	2.14411646
15	MP0005645_abnormal_hypothalamus_physiol	2.08020189
16	MP0002736_abnormal_nociception_after	2.01831806
17	MP0001486_abnormal_startle_reflex	1.96169249
18	MP0005253_abnormal_eye_physiology	1.94829172
19	MP0000372_irregular_coat_pigmentation	1.92098190
20	MP0005646_abnormal_pituitary_gland	1.85036108
21	MP0003136_yellow_coat_color	1.84225212
22	MP0002272_abnormal_nervous_system	1.79502080
23	MP0006072_abnormal_retinal_apoptosis	1.76687400
24	MP0002837_dystrophic_cardiac_calcinosis	1.76156448
25	MP0008877_abnormal_DNA_methylation	1.73073836
26	MP0001984_abnormal_olfaction	1.69124704
27	MP0005410_abnormal_fertilization	1.68707941
28	MP0001529_abnormal_vocalization	1.68256160
29	MP0003635_abnormal_synaptic_transmissio	1.66075958
30	MP0004043_abnormal_pH_regulation	1.62918369
31	MP0005075_abnormal_melanosome_morpholog	1.62478144
32	MP0001485_abnormal_pinna_reflex	1.61881165
33	MP0002638_abnormal_pupillary_reflex	1.58646174
34	MP0002733_abnormal_thermal_nociception	1.56003673
35	MP0002653_abnormal_ependyma_morphology	1.54619458
36	MP0002102_abnormal_ear_morphology	1.51961144
37	MP0008057_abnormal_DNA_replication	1.51299308
38	MP0002067_abnormal_sensory_capabilities	1.50773016
39	MP0001970_abnormal_pain_threshold	1.49758148
40	MP0002572_abnormal_emotion/affect_behav	1.49025740
41	MP0010386_abnormal_urinary_bladder	1.48050608
42	MP0003718_maternal_effect	1.45908172
43	MP0002876_abnormal_thyroid_physiology	1.45468970
44	MP0005377_hearing/vestibular/ear_phenot	1.42847212
45	MP0003878_abnormal_ear_physiology	1.42847212
46	MP0004270_analgesia	1.40484682
47	MP0005423_abnormal_somatic_nervous	1.37186645
48	MP0002184_abnormal_innervation	1.32334141
49	MP0002064_seizures	1.30258731
50	MP0002928_abnormal_bile_duct	1.26621856
51	MP0001440_abnormal_grooming_behavior	1.24883162
52	MP0003698_abnormal_male_reproductive	1.24841321
53	MP0005647_abnormal_sex_gland	1.24708895
54	MP0002557_abnormal_social/conspecific_i	1.21709713
55	MP0004142_abnormal_muscle_tone	1.19268201
56	MP0001963_abnormal_hearing_physiology	1.19046950
57	MP0005084_abnormal_gallbladder_morpholo	1.16121414
58	MP0000778_abnormal_nervous_system	1.15845092
59	MP0002734_abnormal_mechanical_nocicepti	1.15573478
60	MP0000026_abnormal_inner_ear	1.13985328
61	MP0002909_abnormal_adrenal_gland	1.13750712
62	MP0001324_abnormal_eye_pigmentation	1.12925403
63	MP0002229_neurodegeneration	1.12436649
64	MP0004742_abnormal_vestibular_system	1.11076656
65	MP0002751_abnormal_autonomic_nervous	1.10903942
66	MP0005386_behavior/neurological_phenoty	1.08319552
67	MP0004924_abnormal_behavior	1.08319552
68	MP0002063_abnormal_learning/memory/cond	1.08018332
69	MP0004885_abnormal_endolymph	1.06388970
70	MP0000631_abnormal_neuroendocrine_gland	1.05068932
71	MP0003950_abnormal_plasma_membrane	1.03155445
72	MP0004859_abnormal_synaptic_plasticity	1.02571946
73	MP0003879_abnormal_hair_cell	1.00622323
74	MP0005083_abnormal_biliary_tract	0.99526728
75	MP0002752_abnormal_somatic_nervous	0.96893863
76	MP0005395_other_phenotype	0.96233508
77	MP0005174_abnormal_tail_pigmentation	0.93250623
78	MP0003045_fibrosis	0.91366450
79	MP0001929_abnormal_gametogenesis	0.89750746
80	MP0001905_abnormal_dopamine_level	0.89642088
81	MP0000427_abnormal_hair_cycle	0.89422134
82	MP0002168_other_aberrant_phenotype	0.88554209
83	MP0000230_abnormal_systemic_arterial	0.87114429
84	MP0003943_abnormal_hepatobiliary_system	0.86134440
85	MP0003137_abnormal_impulse_conducting	0.86031494
86	MP0004133_heterotaxia	0.85338034
87	MP0004085_abnormal_heartbeat	0.83975512
88	MP0005195_abnormal_posterior_eye	0.83444946
89	MP0001986_abnormal_taste_sensitivity	0.80743413
90	MP0002210_abnormal_sex_determination	0.80513025
91	MP0004147_increased_porphyrin_level	0.77765662
92	MP0000653_abnormal_sex_gland	0.77407096
93	MP0003011_delayed_dark_adaptation	0.76997208
94	MP0008875_abnormal_xenobiotic_pharmacok	0.75684060
95	MP0000383_abnormal_hair_follicle	0.74631178
96	MP0002160_abnormal_reproductive_system	0.73663685
97	MP0002882_abnormal_neuron_morphology	0.73468754
98	MP0005671_abnormal_response_to	0.68906741
99	MP0005310_abnormal_salivary_gland	0.68428055
100	MP0008569_lethality_at_weaning	0.67392894

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of macular pigmentation (HP:0008002)	5.38998447
2	Pancreatic cysts (HP:0001737)	4.58963773
3	True hermaphroditism (HP:0010459)	4.14941327
4	Pancreatic fibrosis (HP:0100732)	4.11876594
5	Attenuation of retinal blood vessels (HP:0007843)	3.90039151
6	Congenital stationary night blindness (HP:0007642)	3.74397526
7	Nephronophthisis (HP:0000090)	3.69363225
8	Decreased central vision (HP:0007663)	3.65727712
9	Abnormality of midbrain morphology (HP:0002418)	3.45778725
10	Molar tooth sign on MRI (HP:0002419)	3.45778725
11	Abnormality of the renal medulla (HP:0100957)	3.36070468
12	Gaze-evoked nystagmus (HP:0000640)	3.33016104
13	Progressive inability to walk (HP:0002505)	3.30389724
14	Oligodactyly (hands) (HP:0001180)	3.23869439
15	Focal motor seizures (HP:0011153)	3.15943150
16	Abnormality of the renal cortex (HP:0011035)	3.07308770
17	Progressive cerebellar ataxia (HP:0002073)	3.05438720
18	Chronic hepatic failure (HP:0100626)	2.99649761
19	Cystic liver disease (HP:0006706)	2.93626397
20	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.89807339
21	Inability to walk (HP:0002540)	2.84611989
22	Febrile seizures (HP:0002373)	2.83367921
23	Tubular atrophy (HP:0000092)	2.71534501
24	Volvulus (HP:0002580)	2.68028049
25	Abolished electroretinogram (ERG) (HP:0000550)	2.67079220
26	Medial flaring of the eyebrow (HP:0010747)	2.65562826
27	Macular degeneration (HP:0000608)	2.64493985
28	Hyperventilation (HP:0002883)	2.60548006
29	Abnormal drinking behavior (HP:0030082)	2.49134538
30	Polydipsia (HP:0001959)	2.49134538
31	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.46915585
32	Severe visual impairment (HP:0001141)	2.45218357
33	Abnormal biliary tract physiology (HP:0012439)	2.44046421
34	Bile duct proliferation (HP:0001408)	2.44046421
35	Focal seizures (HP:0007359)	2.43045781
36	Broad-based gait (HP:0002136)	2.40261749
37	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.37797966
38	Genital tract atresia (HP:0001827)	2.36824969
39	Bony spicule pigmentary retinopathy (HP:0007737)	2.31413585
40	Sclerocornea (HP:0000647)	2.30140775
41	Aplasia/hypoplasia of the uterus (HP:0008684)	2.27401150
42	Decreased circulating renin level (HP:0003351)	2.27155665
43	Type II lissencephaly (HP:0007260)	2.26690569
44	Vaginal atresia (HP:0000148)	2.25413399
45	Abnormal ciliary motility (HP:0012262)	2.20682639
46	Intestinal atresia (HP:0011100)	2.19748575
47	Fair hair (HP:0002286)	2.17804251
48	Polyuria (HP:0000103)	2.17658484
49	Pendular nystagmus (HP:0012043)	2.17566565
50	Anencephaly (HP:0002323)	2.16711714
51	Facial shape deformation (HP:0011334)	2.15792173
52	Potter facies (HP:0002009)	2.15792173
53	Furrowed tongue (HP:0000221)	2.15661074
54	Hypophosphatemic rickets (HP:0004912)	2.15375905
55	Congenital sensorineural hearing impairment (HP:0008527)	2.14220048
56	Congenital hepatic fibrosis (HP:0002612)	2.13119942
57	Gait imbalance (HP:0002141)	2.12010385
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.09998705
59	Absent/shortened dynein arms (HP:0200106)	2.09998705
60	Constricted visual fields (HP:0001133)	2.09700041
61	Genetic anticipation (HP:0003743)	2.08131364
62	Tubulointerstitial nephritis (HP:0001970)	2.07757474
63	Congenital primary aphakia (HP:0007707)	2.05175846
64	Poikiloderma (HP:0001029)	2.03005051
65	Dialeptic seizures (HP:0011146)	2.00571546
66	Abnormal respiratory motile cilium morphology (HP:0005938)	2.00542956
67	Abnormal respiratory epithelium morphology (HP:0012253)	2.00542956
68	Male pseudohermaphroditism (HP:0000037)	2.00164171
69	Absent speech (HP:0001344)	1.94302719
70	Occipital encephalocele (HP:0002085)	1.92757202
71	Recurrent sinusitis (HP:0011108)	1.92168154
72	Adactyly (HP:0009776)	1.92039072
73	Tubulointerstitial abnormality (HP:0001969)	1.91360746
74	Generalized hypopigmentation of hair (HP:0011358)	1.88995598
75	Abnormal rod and cone electroretinograms (HP:0008323)	1.86687520
76	Anhidrosis (HP:0000970)	1.85587219
77	Congenital, generalized hypertrichosis (HP:0004540)	1.83950813
78	Chorioretinal atrophy (HP:0000533)	1.82114811
79	Choroideremia (HP:0001139)	1.81153354
80	Hypoplastic labia majora (HP:0000059)	1.80619431
81	Dysdiadochokinesis (HP:0002075)	1.78361566
82	Oligodactyly (HP:0012165)	1.77872187
83	Abnormality of B cell number (HP:0010975)	1.77794550
84	Bicornuate uterus (HP:0000813)	1.76947769
85	Nephrogenic diabetes insipidus (HP:0009806)	1.76363860
86	Abnormal respiratory motile cilium physiology (HP:0012261)	1.75653786
87	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.73385892
88	Abnormal urine output (HP:0012590)	1.73174200
89	Hypoplastic iliac wings (HP:0002866)	1.72836926
90	Abnormality of the pubic bones (HP:0003172)	1.71886675
91	Fibular aplasia (HP:0002990)	1.69656247
92	Patellar aplasia (HP:0006443)	1.69211302
93	Photophobia (HP:0000613)	1.69205416
94	Episodic fever (HP:0001954)	1.69159436
95	Stage 5 chronic kidney disease (HP:0003774)	1.68389613
96	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.67810319
97	IgG deficiency (HP:0004315)	1.67527310
98	Keratoconus (HP:0000563)	1.66552078
99	Increased corneal curvature (HP:0100692)	1.66552078
100	Asplenia (HP:0001746)	1.66435309

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.28315436
2	BMPR1B	4.12810233
3	ADRBK2	3.18705248
4	MAP4K2	3.17051572
5	MAP3K4	2.90496021
6	GRK1	2.83444489
7	PINK1	2.15632689
8	NEK6	1.95558326
9	MAP2K7	1.92761176
10	INSRR	1.90161721
11	MAPK13	1.84389583
12	PLK2	1.83384003
13	CASK	1.80705627
14	STK38L	1.77876356
15	CSNK1A1L	1.63807454
16	WNK3	1.53999439
17	ZAK	1.49176888
18	TNIK	1.46879827
19	TGFBR1	1.42333882
20	NUAK1	1.39931488
21	MARK1	1.39339111
22	TRIM28	1.38997793
23	ACVR1B	1.38432322
24	PLK4	1.32438707
25	MST4	1.30322799
26	TAOK3	1.28708670
27	ADRBK1	1.26209520
28	DAPK2	1.24823380
29	KIT	1.22443703
30	NTRK3	1.20252364
31	WNK1	1.19639831
32	PRKCE	1.16775984
33	PTK2B	1.14750657
34	TEC	1.14223220
35	PRKD3	1.13111872
36	PIK3CG	1.13014952
37	LATS1	1.10292827
38	MUSK	1.07194431
39	CSNK1G2	1.06777112
40	TXK	1.06414993
41	GRK7	0.99693567
42	STK38	0.99093982
43	CSNK1G1	0.97215903
44	PRKCG	0.97132557
45	WNK4	0.96734772
46	TIE1	0.89245692
47	EIF2AK3	0.88954766
48	CSNK1G3	0.86877430
49	NLK	0.82764542
50	FGFR2	0.81122173
51	OXSR1	0.78635541
52	PNCK	0.72899681
53	PDK2	0.69876583
54	BCR	0.69561309
55	MATK	0.68995115
56	AKT3	0.68079167
57	STK39	0.68020366
58	CDK8	0.67066819
59	FER	0.66583143
60	PHKG2	0.62498463
61	PHKG1	0.62498463
62	CAMK1G	0.60962799
63	MAP2K4	0.60234768
64	PAK3	0.60196115
65	IRAK1	0.60056853
66	NME1	0.58644380
67	PRKCI	0.57608680
68	IKBKB	0.53242430
69	VRK1	0.51950691
70	GRK5	0.51613019
71	EPHA4	0.50968651
72	MKNK2	0.50374359
73	CAMK2A	0.50283400
74	DYRK1A	0.50021067
75	CSNK1A1	0.47842895
76	DYRK2	0.46209947
77	NEK1	0.46120673
78	CSNK1D	0.45975164
79	CAMK1D	0.45920442
80	CAMK1	0.45737988
81	SGK2	0.44834704
82	TNK2	0.44788883
83	DYRK3	0.43060278
84	PRKAA2	0.41528186
85	PKN1	0.40721416
86	PRKACA	0.40526837
87	SIK2	0.40357296
88	PRKCA	0.38561070
89	ATM	0.37668678
90	CDK5	0.37524628
91	ICK	0.35188578
92	SYK	0.35091320
93	ABL1	0.34883117
94	PRKCB	0.33724644
95	STK3	0.33133443
96	MAPK15	0.33068105
97	CHUK	0.32896392
98	PLK3	0.32657418
99	ITK	0.32256690
100	ERBB3	0.29697529

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	4.26458317
2	Phototransduction_Homo sapiens_hsa04744	3.23629227
3	Morphine addiction_Homo sapiens_hsa05032	2.71659551
4	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.51204330
5	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.28942539
6	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.25408014
7	Taste transduction_Homo sapiens_hsa04742	2.24813609
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.23010477
9	GABAergic synapse_Homo sapiens_hsa04727	2.11432202
10	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.08007986
11	Butanoate metabolism_Homo sapiens_hsa00650	2.02674462
12	Nitrogen metabolism_Homo sapiens_hsa00910	2.02181960
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.94322394
14	Tryptophan metabolism_Homo sapiens_hsa00380	1.90196528
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.80080818
16	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.77849861
17	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.77482777
18	Linoleic acid metabolism_Homo sapiens_hsa00591	1.74454418
19	Serotonergic synapse_Homo sapiens_hsa04726	1.66317961
20	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.55634730
21	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.52522235
22	Caffeine metabolism_Homo sapiens_hsa00232	1.50529092
23	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.48969937
24	Olfactory transduction_Homo sapiens_hsa04740	1.48963081
25	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.44908166
26	Glycerolipid metabolism_Homo sapiens_hsa00561	1.43841378
27	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.43644222
28	Ether lipid metabolism_Homo sapiens_hsa00565	1.39683026
29	Circadian entrainment_Homo sapiens_hsa04713	1.39604225
30	Salivary secretion_Homo sapiens_hsa04970	1.35013504
31	Insulin secretion_Homo sapiens_hsa04911	1.33197250
32	Glutamatergic synapse_Homo sapiens_hsa04724	1.31367460
33	Calcium signaling pathway_Homo sapiens_hsa04020	1.29320760
34	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.27330784
35	ABC transporters_Homo sapiens_hsa02010	1.26556585
36	Retinol metabolism_Homo sapiens_hsa00830	1.26016181
37	Chemical carcinogenesis_Homo sapiens_hsa05204	1.19064377
38	Propanoate metabolism_Homo sapiens_hsa00640	1.16544825
39	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.15541357
40	Primary immunodeficiency_Homo sapiens_hsa05340	1.13223749
41	beta-Alanine metabolism_Homo sapiens_hsa00410	1.10567849
42	Basal transcription factors_Homo sapiens_hsa03022	1.07309376
43	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.07191334
44	Asthma_Homo sapiens_hsa05310	1.02918510
45	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.99057997
46	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.97147728
47	Gastric acid secretion_Homo sapiens_hsa04971	0.96732143
48	Cocaine addiction_Homo sapiens_hsa05030	0.94722253
49	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.94580429
50	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.94023476
51	Non-homologous end-joining_Homo sapiens_hsa03450	0.89210037
52	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.88928218
53	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.87727328
54	Sphingolipid metabolism_Homo sapiens_hsa00600	0.82226764
55	RNA degradation_Homo sapiens_hsa03018	0.81697428
56	Histidine metabolism_Homo sapiens_hsa00340	0.80872570
57	Dopaminergic synapse_Homo sapiens_hsa04728	0.79664008
58	Renin secretion_Homo sapiens_hsa04924	0.73829759
59	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73218254
60	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.72863985
61	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.71264796
62	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.69804945
63	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.69516563
64	Cholinergic synapse_Homo sapiens_hsa04725	0.68389494
65	Fatty acid degradation_Homo sapiens_hsa00071	0.68075285
66	Fanconi anemia pathway_Homo sapiens_hsa03460	0.66318867
67	Amphetamine addiction_Homo sapiens_hsa05031	0.64745590
68	Collecting duct acid secretion_Homo sapiens_hsa04966	0.64720925
69	Type II diabetes mellitus_Homo sapiens_hsa04930	0.64386782
70	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.64336445
71	cAMP signaling pathway_Homo sapiens_hsa04024	0.57152255
72	Circadian rhythm_Homo sapiens_hsa04710	0.54574539
73	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.53849087
74	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.51844262
75	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.49193034
76	Sulfur metabolism_Homo sapiens_hsa00920	0.48549064
77	Lysine degradation_Homo sapiens_hsa00310	0.48194966
78	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.47071039
79	Cardiac muscle contraction_Homo sapiens_hsa04260	0.44779502
80	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.41330270
81	Regulation of autophagy_Homo sapiens_hsa04140	0.41007547
82	Peroxisome_Homo sapiens_hsa04146	0.40846572
83	Selenocompound metabolism_Homo sapiens_hsa00450	0.40689236
84	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.40172832
85	RNA polymerase_Homo sapiens_hsa03020	0.38129307
86	Type I diabetes mellitus_Homo sapiens_hsa04940	0.36164537
87	Long-term depression_Homo sapiens_hsa04730	0.35585141
88	Protein export_Homo sapiens_hsa03060	0.35212215
89	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.33753819
90	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.33303106
91	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.32520008
92	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.31906107
93	Homologous recombination_Homo sapiens_hsa03440	0.31779112
94	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.31572890
95	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.30853084
96	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.28969486
97	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.28818389
98	Metabolic pathways_Homo sapiens_hsa01100	0.28750018
99	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28684368
100	One carbon pool by folate_Homo sapiens_hsa00670	0.28328863

C10ORF53

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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