ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cilium or flagellum-dependent cell motility (GO:0001539)	4.85442927
2	indole-containing compound catabolic process (GO:0042436)	4.73013483
3	indolalkylamine catabolic process (GO:0046218)	4.73013483
4	tryptophan catabolic process (GO:0006569)	4.73013483
5	indolalkylamine metabolic process (GO:0006586)	4.72206443
6	kynurenine metabolic process (GO:0070189)	4.30414144
7	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.26302097
8	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.23911912
9	tryptophan metabolic process (GO:0006568)	4.13795828
10	detection of light stimulus involved in sensory perception (GO:0050962)	4.07141934
11	detection of light stimulus involved in visual perception (GO:0050908)	4.07141934
12	neural tube formation (GO:0001841)	4.06552763
13	fucose catabolic process (GO:0019317)	4.04865240
14	L-fucose metabolic process (GO:0042354)	4.04865240
15	L-fucose catabolic process (GO:0042355)	4.04865240
16	behavioral response to nicotine (GO:0035095)	4.01858034
17	protein K11-linked deubiquitination (GO:0035871)	3.90659202
18	regulation of sarcomere organization (GO:0060297)	3.78092185
19	signal peptide processing (GO:0006465)	3.78089470
20	photoreceptor cell maintenance (GO:0045494)	3.71325783
21	epithelial cilium movement (GO:0003351)	3.69237757
22	cilium movement (GO:0003341)	3.67250935
23	axoneme assembly (GO:0035082)	3.61543779
24	reflex (GO:0060004)	3.57163525
25	cellular ketone body metabolic process (GO:0046950)	3.50110361
26	response to pheromone (GO:0019236)	3.48914263
27	indole-containing compound metabolic process (GO:0042430)	3.45977738
28	retinal cone cell development (GO:0046549)	3.43176260
29	establishment of protein localization to Golgi (GO:0072600)	3.34715812
30	regulation of hippo signaling (GO:0035330)	3.28815402
31	cellular biogenic amine catabolic process (GO:0042402)	3.22629843
32	amine catabolic process (GO:0009310)	3.22629843
33	piRNA metabolic process (GO:0034587)	3.19883022
34	cilium organization (GO:0044782)	3.14067145
35	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.12417271
36	ketone body metabolic process (GO:1902224)	3.11459951
37	protein localization to cilium (GO:0061512)	3.11414186
38	nonmotile primary cilium assembly (GO:0035058)	3.08108464
39	cilium assembly (GO:0042384)	3.07549281
40	sulfation (GO:0051923)	3.06756940
41	gamma-aminobutyric acid transport (GO:0015812)	3.06011383
42	cilium morphogenesis (GO:0060271)	3.05577117
43	primary amino compound metabolic process (GO:1901160)	3.05076588
44	serotonin metabolic process (GO:0042428)	3.02123833
45	auditory receptor cell stereocilium organization (GO:0060088)	2.98769943
46	benzene-containing compound metabolic process (GO:0042537)	2.97103353
47	behavioral response to ethanol (GO:0048149)	2.96943512
48	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.92225981
49	oxidative demethylation (GO:0070989)	2.90929296
50	multicellular organism reproduction (GO:0032504)	2.89068373
51	negative regulation of mast cell activation (GO:0033004)	2.88555005
52	neuronal action potential (GO:0019228)	2.84895787
53	regulation of action potential (GO:0098900)	2.84073267
54	regulation of cilium movement (GO:0003352)	2.83518469
55	dopamine transport (GO:0015872)	2.81848193
56	DNA deamination (GO:0045006)	2.78409151
57	aromatic amino acid family catabolic process (GO:0009074)	2.78294387
58	thyroid hormone metabolic process (GO:0042403)	2.76937429
59	axonemal dynein complex assembly (GO:0070286)	2.76152607
60	protein polyglutamylation (GO:0018095)	2.74890050
61	DNA methylation involved in gamete generation (GO:0043046)	2.74722178
62	protein K48-linked deubiquitination (GO:0071108)	2.74471913
63	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.73044260
64	proline transport (GO:0015824)	2.72793123
65	water-soluble vitamin biosynthetic process (GO:0042364)	2.71774069
66	tachykinin receptor signaling pathway (GO:0007217)	2.69818304
67	drug catabolic process (GO:0042737)	2.69777429
68	monoubiquitinated protein deubiquitination (GO:0035520)	2.69444672
69	inner ear receptor stereocilium organization (GO:0060122)	2.68186033
70	intraciliary transport (GO:0042073)	2.62147335
71	positive regulation of developmental pigmentation (GO:0048087)	2.59454628
72	regulation of pigment cell differentiation (GO:0050932)	2.59190806
73	protein K63-linked deubiquitination (GO:0070536)	2.58242377
74	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.57433512
75	cellular component assembly involved in morphogenesis (GO:0010927)	2.56918008
76	NAD biosynthetic process (GO:0009435)	2.56454906
77	aromatic amino acid family metabolic process (GO:0009072)	2.56276798
78	cornea development in camera-type eye (GO:0061303)	2.55880462
79	regulation of meiosis I (GO:0060631)	2.53960492
80	rRNA catabolic process (GO:0016075)	2.53885379
81	membrane depolarization during action potential (GO:0086010)	2.53708963
82	transmission of nerve impulse (GO:0019226)	2.53515515
83	protein targeting to Golgi (GO:0000042)	2.52621903
84	startle response (GO:0001964)	2.52039322
85	photoreceptor cell development (GO:0042461)	2.51524507
86	sperm motility (GO:0030317)	2.51404120
87	platelet dense granule organization (GO:0060155)	2.50272007
88	regulation of collateral sprouting (GO:0048670)	2.47150084
89	righting reflex (GO:0060013)	2.47034917
90	embryonic epithelial tube formation (GO:0001838)	2.46943602
91	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.46867422
92	prenylation (GO:0097354)	2.46808035
93	protein prenylation (GO:0018342)	2.46808035
94	cellular response to sterol (GO:0036315)	2.43311164
95	spinal cord motor neuron differentiation (GO:0021522)	2.43073792
96	interkinetic nuclear migration (GO:0022027)	2.42554652
97	DNA double-strand break processing (GO:0000729)	2.42220089
98	reciprocal DNA recombination (GO:0035825)	2.41105001
99	reciprocal meiotic recombination (GO:0007131)	2.41105001
100	rhodopsin mediated signaling pathway (GO:0016056)	2.39635928

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.62727222
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.18210198
3	VDR_22108803_ChIP-Seq_LS180_Human	3.15272325
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.76868562
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.72653994
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.68085736
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.59425197
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.45123626
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.44598662
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.40236469
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.32567089
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.28753935
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.22208568
14	P300_19829295_ChIP-Seq_ESCs_Human	2.15985716
15	FUS_26573619_Chip-Seq_HEK293_Human	2.15657055
16	EWS_26573619_Chip-Seq_HEK293_Human	2.07205873
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.06277530
18	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.05057737
19	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.94189533
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.93712416
21	STAT3_23295773_ChIP-Seq_U87_Human	1.86469128
22	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.85769427
23	SMAD4_21799915_ChIP-Seq_A2780_Human	1.84686783
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.81579165
25	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.77498105
26	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.73486953
27	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.69468308
28	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.67247793
29	CBP_20019798_ChIP-Seq_JUKART_Human	1.67247793
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.65556629
31	TCF4_23295773_ChIP-Seq_U87_Human	1.65142072
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.63515399
33	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.58740146
34	AR_25329375_ChIP-Seq_VCAP_Human	1.57784786
35	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.57522786
36	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.50206974
37	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.50011685
38	AR_21572438_ChIP-Seq_LNCaP_Human	1.47221636
39	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.46724537
40	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.46724537
41	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.44931738
42	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.44390248
43	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41837214
44	TCF4_22108803_ChIP-Seq_LS180_Human	1.41319704
45	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.41108604
46	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.39724603
47	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.39680530
48	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.38811561
49	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.37063044
50	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.36986328
51	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.36506585
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33905825
53	RUNX2_22187159_ChIP-Seq_PCA_Human	1.33648620
54	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.32997877
55	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.32468045
56	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.31721437
57	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.31103015
58	SOX2_19829295_ChIP-Seq_ESCs_Human	1.29104681
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.29104681
60	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.28735644
61	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.27931720
62	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.27382945
63	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.26916367
64	TP53_22573176_ChIP-Seq_HFKS_Human	1.26470097
65	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.26227264
66	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.25930188
67	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.23916458
68	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.22649424
69	CDX2_22108803_ChIP-Seq_LS180_Human	1.21819086
70	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.21794058
71	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20682116
72	REST_21632747_ChIP-Seq_MESCs_Mouse	1.20178283
73	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.19768731
74	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.19016109
75	TP53_16413492_ChIP-PET_HCT116_Human	1.18665407
76	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.17425112
77	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14192150
78	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14192150
79	P53_22387025_ChIP-Seq_ESCs_Mouse	1.12703629
80	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.12298525
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.10223774
82	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.09378738
83	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.09008344
84	DROSHA_22980978_ChIP-Seq_HELA_Human	1.08768102
85	RNF2_27304074_Chip-Seq_NSC_Mouse	1.08652610
86	IRF1_19129219_ChIP-ChIP_H3396_Human	1.08015517
87	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.07124091
88	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.06212560
89	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.05873567
90	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.05457074
91	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.05292004
92	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.05025843
93	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.04549490
94	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.03902295
95	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.03094331
96	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.02685902
97	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.01802845
98	KDM2B_26808549_Chip-Seq_REH_Human	1.00989615
99	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.00299216
100	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99475825

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	3.61107499
2	MP0003195_calcinosis	3.39053627
3	MP0008877_abnormal_DNA_methylation	2.59769327
4	MP0005551_abnormal_eye_electrophysiolog	2.56895251
5	MP0001968_abnormal_touch/_nociception	2.50909256
6	MP0009046_muscle_twitch	2.50203540
7	MP0002736_abnormal_nociception_after	2.30841712
8	MP0002102_abnormal_ear_morphology	2.30087302
9	MP0001501_abnormal_sleep_pattern	2.20892502
10	MP0003646_muscle_fatigue	2.14892983
11	MP0004043_abnormal_pH_regulation	2.07839640
12	MP0002837_dystrophic_cardiac_calcinosis	2.05829356
13	MP0006276_abnormal_autonomic_nervous	2.02817056
14	MP0003136_yellow_coat_color	1.97262817
15	MP0009745_abnormal_behavioral_response	1.93965559
16	MP0003950_abnormal_plasma_membrane	1.92075803
17	MP0000427_abnormal_hair_cycle	1.83486807
18	MP0005253_abnormal_eye_physiology	1.79526199
19	MP0008057_abnormal_DNA_replication	1.76831850
20	MP0002638_abnormal_pupillary_reflex	1.75477373
21	MP0005646_abnormal_pituitary_gland	1.75202831
22	MP0002876_abnormal_thyroid_physiology	1.74249075
23	MP0001485_abnormal_pinna_reflex	1.68694623
24	MP0008872_abnormal_physiological_respon	1.67838280
25	MP0002653_abnormal_ependyma_morphology	1.67260929
26	MP0001984_abnormal_olfaction	1.66948217
27	MP0005645_abnormal_hypothalamus_physiol	1.65170904
28	MP0002138_abnormal_hepatobiliary_system	1.63876782
29	MP0002272_abnormal_nervous_system	1.61931216
30	MP0003787_abnormal_imprinting	1.60557885
31	MP0001486_abnormal_startle_reflex	1.59914210
32	MP0008875_abnormal_xenobiotic_pharmacok	1.59726623
33	MP0005174_abnormal_tail_pigmentation	1.59662453
34	MP0004142_abnormal_muscle_tone	1.58258609
35	MP0006072_abnormal_retinal_apoptosis	1.57343356
36	MP0000372_irregular_coat_pigmentation	1.57188835
37	MP0002735_abnormal_chemical_nociception	1.56890594
38	MP0003880_abnormal_central_pattern	1.55260614
39	MP0001986_abnormal_taste_sensitivity	1.52283081
40	MP0000383_abnormal_hair_follicle	1.45892452
41	MP0003718_maternal_effect	1.42075400
42	MP0002572_abnormal_emotion/affect_behav	1.37977123
43	MP0010386_abnormal_urinary_bladder	1.36457591
44	MP0002928_abnormal_bile_duct	1.35719951
45	MP0000631_abnormal_neuroendocrine_gland	1.33323845
46	MP0002064_seizures	1.32798483
47	MP0001970_abnormal_pain_threshold	1.28291611
48	MP0005410_abnormal_fertilization	1.24549566
49	MP0005085_abnormal_gallbladder_physiolo	1.23467191
50	MP0002938_white_spotting	1.20046690
51	MP0002557_abnormal_social/conspecific_i	1.19727912
52	MP0005386_behavior/neurological_phenoty	1.19582546
53	MP0004924_abnormal_behavior	1.19582546
54	MP0003252_abnormal_bile_duct	1.18459682
55	MP0004145_abnormal_muscle_electrophysio	1.17951654
56	MP0002733_abnormal_thermal_nociception	1.17274949
57	MP0004147_increased_porphyrin_level	1.17084984
58	MP0002067_abnormal_sensory_capabilities	1.15795360
59	MP0006292_abnormal_olfactory_placode	1.15320108
60	MP0004215_abnormal_myocardial_fiber	1.10470157
61	MP0003635_abnormal_synaptic_transmissio	1.08629173
62	MP0000230_abnormal_systemic_arterial	1.06149232
63	MP0003045_fibrosis	1.03836871
64	MP0002734_abnormal_mechanical_nocicepti	1.00859849
65	MP0002909_abnormal_adrenal_gland	0.99930975
66	MP0004885_abnormal_endolymph	0.99024132
67	MP0009780_abnormal_chondrocyte_physiolo	0.98930791
68	MP0004133_heterotaxia	0.98294254
69	MP0005167_abnormal_blood-brain_barrier	0.97928221
70	MP0002234_abnormal_pharynx_morphology	0.97864915
71	MP0003698_abnormal_male_reproductive	0.96840133
72	MP0002063_abnormal_learning/memory/cond	0.96526531
73	MP0002095_abnormal_skin_pigmentation	0.95511545
74	MP0002229_neurodegeneration	0.95467627
75	MP0003890_abnormal_embryonic-extraembry	0.93576039
76	MP0004742_abnormal_vestibular_system	0.90609365
77	MP0005395_other_phenotype	0.90208971
78	MP0001529_abnormal_vocalization	0.90023088
79	MP0005195_abnormal_posterior_eye	0.88300130
80	MP0005310_abnormal_salivary_gland	0.87578747
81	MP0005389_reproductive_system_phenotype	0.87395022
82	MP0006054_spinal_hemorrhage	0.86353850
83	MP0001905_abnormal_dopamine_level	0.86346023
84	MP0005670_abnormal_white_adipose	0.85799247
85	MP0005084_abnormal_gallbladder_morpholo	0.84533590
86	MP0001929_abnormal_gametogenesis	0.83247653
87	MP0005377_hearing/vestibular/ear_phenot	0.82952922
88	MP0003878_abnormal_ear_physiology	0.82952922
89	MP0002693_abnormal_pancreas_physiology	0.82288381
90	MP0003879_abnormal_hair_cell	0.82219701
91	MP0004085_abnormal_heartbeat	0.82209376
92	MP0002168_other_aberrant_phenotype	0.81621293
93	MP0001764_abnormal_homeostasis	0.81038259
94	MP0005187_abnormal_penis_morphology	0.80942615
95	MP0001963_abnormal_hearing_physiology	0.80614141
96	MP0002160_abnormal_reproductive_system	0.79263712
97	MP0005075_abnormal_melanosome_morpholog	0.78174923
98	MP0002752_abnormal_somatic_nervous	0.78147533
99	MP0008775_abnormal_heart_ventricle	0.77258040
100	MP0005171_absent_coat_pigmentation	0.76707268

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.88047897
2	Pancreatic fibrosis (HP:0100732)	4.44846518
3	True hermaphroditism (HP:0010459)	4.23357779
4	Hyperventilation (HP:0002883)	4.14517507
5	Molar tooth sign on MRI (HP:0002419)	4.07447631
6	Abnormality of midbrain morphology (HP:0002418)	4.07447631
7	Nephronophthisis (HP:0000090)	3.73532272
8	Abnormality of the renal cortex (HP:0011035)	3.70208764
9	Attenuation of retinal blood vessels (HP:0007843)	3.57703948
10	Congenital stationary night blindness (HP:0007642)	3.49479133
11	Gaze-evoked nystagmus (HP:0000640)	3.47872552
12	Chronic hepatic failure (HP:0100626)	3.44491693
13	Abnormality of the renal medulla (HP:0100957)	3.43041650
14	Absent/shortened dynein arms (HP:0200106)	3.38475593
15	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.38475593
16	Medial flaring of the eyebrow (HP:0010747)	3.30422317
17	Cystic liver disease (HP:0006706)	3.15974792
18	Abnormal ciliary motility (HP:0012262)	3.01979343
19	Abolished electroretinogram (ERG) (HP:0000550)	3.00990121
20	Tubular atrophy (HP:0000092)	2.91666188
21	Genetic anticipation (HP:0003743)	2.90619946
22	Bony spicule pigmentary retinopathy (HP:0007737)	2.85070265
23	Progressive cerebellar ataxia (HP:0002073)	2.76804880
24	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.72890052
25	Renal cortical cysts (HP:0000803)	2.69005269
26	Congenital sensorineural hearing impairment (HP:0008527)	2.68560907
27	Type II lissencephaly (HP:0007260)	2.66935200
28	Febrile seizures (HP:0002373)	2.66508223
29	Abnormal respiratory motile cilium morphology (HP:0005938)	2.66315118
30	Abnormal respiratory epithelium morphology (HP:0012253)	2.66315118
31	Gait imbalance (HP:0002141)	2.65730764
32	Abnormal respiratory motile cilium physiology (HP:0012261)	2.65533288
33	Decreased circulating renin level (HP:0003351)	2.63516593
34	Increased corneal curvature (HP:0100692)	2.62104010
35	Keratoconus (HP:0000563)	2.62104010
36	Absent speech (HP:0001344)	2.61661947
37	Congenital primary aphakia (HP:0007707)	2.60368632
38	Abnormal drinking behavior (HP:0030082)	2.57169871
39	Polydipsia (HP:0001959)	2.57169871
40	Decreased central vision (HP:0007663)	2.56504078
41	Fair hair (HP:0002286)	2.55730050
42	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.53375189
43	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.52188153
44	Inability to walk (HP:0002540)	2.43241416
45	Abnormal rod and cone electroretinograms (HP:0008323)	2.42554927
46	Sclerocornea (HP:0000647)	2.42296732
47	Congenital hepatic fibrosis (HP:0002612)	2.42174209
48	Furrowed tongue (HP:0000221)	2.41930599
49	Nephrogenic diabetes insipidus (HP:0009806)	2.36727510
50	Bile duct proliferation (HP:0001408)	2.32784872
51	Abnormal biliary tract physiology (HP:0012439)	2.32784872
52	Progressive inability to walk (HP:0002505)	2.30401471
53	Genital tract atresia (HP:0001827)	2.29682162
54	Broad-based gait (HP:0002136)	2.23080357
55	Large for gestational age (HP:0001520)	2.20846520
56	Hypothermia (HP:0002045)	2.20634036
57	Protruding tongue (HP:0010808)	2.19425562
58	Postaxial foot polydactyly (HP:0001830)	2.18219565
59	Focal motor seizures (HP:0011153)	2.14398017
60	Vaginal atresia (HP:0000148)	2.14160343
61	Cerebellar dysplasia (HP:0007033)	2.14159540
62	Anencephaly (HP:0002323)	2.14099326
63	Tubulointerstitial nephritis (HP:0001970)	2.12550486
64	Abnormality of alanine metabolism (HP:0010916)	2.12056647
65	Hyperalaninemia (HP:0003348)	2.12056647
66	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.12056647
67	Male pseudohermaphroditism (HP:0000037)	2.08867044
68	Abnormality of macular pigmentation (HP:0008002)	2.07912410
69	Focal seizures (HP:0007359)	2.06870762
70	Clumsiness (HP:0002312)	2.06613482
71	Rhinitis (HP:0012384)	2.05857287
72	Generalized hypopigmentation of hair (HP:0011358)	2.04098196
73	Constricted visual fields (HP:0001133)	2.03377756
74	Poor coordination (HP:0002370)	2.03298339
75	Polyuria (HP:0000103)	2.01259151
76	Widely spaced teeth (HP:0000687)	2.00502736
77	Dialeptic seizures (HP:0011146)	1.99780582
78	Lissencephaly (HP:0001339)	1.98974862
79	Intestinal atresia (HP:0011100)	1.97170588
80	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.95033644
81	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.92274365
82	Occipital encephalocele (HP:0002085)	1.91514975
83	Pendular nystagmus (HP:0012043)	1.91236263
84	Tubulointerstitial abnormality (HP:0001969)	1.90710182
85	Hemiparesis (HP:0001269)	1.88167219
86	Central scotoma (HP:0000603)	1.88030570
87	Retinitis pigmentosa (HP:0000510)	1.86352780
88	Stomach cancer (HP:0012126)	1.85599623
89	Postaxial hand polydactyly (HP:0001162)	1.81225453
90	Small hand (HP:0200055)	1.79653129
91	Abnormality of the pons (HP:0007361)	1.79435761
92	Preaxial hand polydactyly (HP:0001177)	1.77306400
93	Congenital, generalized hypertrichosis (HP:0004540)	1.77105475
94	Chorioretinal atrophy (HP:0000533)	1.74770399
95	Hypoplasia of the pons (HP:0012110)	1.72519832
96	Ketoacidosis (HP:0001993)	1.72161534
97	Optic nerve hypoplasia (HP:0000609)	1.70543804
98	Short foot (HP:0001773)	1.69721673
99	Ketosis (HP:0001946)	1.66803276
100	Astigmatism (HP:0000483)	1.66515612

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	8.42357511
2	BMPR1B	2.92208333
3	ACVR1B	2.80026762
4	WNK3	2.62824689
5	ADRBK2	2.54296632
6	MAP4K2	2.44935275
7	INSRR	2.14875852
8	GRK1	1.99458377
9	NUAK1	1.99327108
10	ZAK	1.93718502
11	MAPK13	1.93356089
12	STK38L	1.87423007
13	CASK	1.84506719
14	PINK1	1.83815508
15	TAOK3	1.75651493
16	MAP3K4	1.68303210
17	OXSR1	1.46689299
18	STK39	1.40875084
19	NTRK3	1.39508621
20	PIK3CG	1.33191034
21	WNK4	1.28299050
22	TNIK	1.25565203
23	MKNK2	1.22111602
24	TXK	1.22090471
25	PAK3	1.17080260
26	DAPK2	1.13128902
27	PRKCE	1.07761393
28	ADRBK1	1.07625804
29	PTK2B	1.04734594
30	TLK1	1.02376234
31	PLK2	0.97446546
32	CAMKK2	0.97314743
33	BCR	0.97006208
34	FER	0.95158206
35	MARK1	0.93861683
36	MUSK	0.91852489
37	TRIM28	0.90061437
38	STK3	0.89648563
39	MAPKAPK5	0.87629782
40	TGFBR1	0.86217422
41	LATS1	0.85713409
42	EIF2AK3	0.84833033
43	PRKCG	0.83741132
44	BRSK2	0.83197477
45	CSNK1G2	0.82234049
46	TEC	0.81385448
47	CSNK1G1	0.80123914
48	AKT3	0.79276709
49	PIK3CA	0.77353510
50	MAP2K7	0.77063305
51	MST4	0.75406927
52	FGFR2	0.73048867
53	CSNK1G3	0.72420764
54	EPHA4	0.71078500
55	TNK2	0.68266597
56	CSNK1A1L	0.63374307
57	ERBB3	0.61597604
58	CAMK2A	0.61445995
59	MAPK15	0.60050092
60	PRKAA2	0.58918430
61	NLK	0.58028726
62	MAPKAPK3	0.56750052
63	MKNK1	0.55926162
64	IRAK1	0.55263726
65	TIE1	0.54831951
66	PKN1	0.53382209
67	PHKG2	0.51837076
68	PHKG1	0.51837076
69	PNCK	0.51326850
70	VRK1	0.48948710
71	CAMK1	0.47617698
72	NTRK2	0.47317358
73	CSNK1D	0.46839366
74	MAP2K6	0.46220634
75	MAP3K7	0.45304805
76	STK38	0.45106308
77	OBSCN	0.44999036
78	SGK2	0.44512928
79	TRPM7	0.44295066
80	PRKACA	0.42941871
81	PRKAA1	0.41612453
82	DYRK2	0.41486341
83	IKBKB	0.41250889
84	KIT	0.41202902
85	PRKCQ	0.41160854
86	CSNK1A1	0.40248818
87	PRKG1	0.37742539
88	CDK3	0.36961557
89	PLK4	0.36213390
90	PRKCZ	0.34409000
91	FLT3	0.33772018
92	ERBB2	0.32945806
93	PRKACB	0.32797304
94	PRKCA	0.32621514
95	CHUK	0.32150610
96	ITK	0.31330682
97	RPS6KA5	0.30145863
98	CAMK1G	0.30046283
99	CAMK4	0.29650602
100	PLK3	0.29032446

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.92163337
2	Butanoate metabolism_Homo sapiens_hsa00650	2.77113840
3	Nicotine addiction_Homo sapiens_hsa05033	2.50379581
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.50377256
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.35013672
6	Tryptophan metabolism_Homo sapiens_hsa00380	2.34207101
7	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.25062104
8	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.24422308
9	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23289105
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.22488727
11	ABC transporters_Homo sapiens_hsa02010	2.07354201
12	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.98966420
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.88025082
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.86398587
15	Ether lipid metabolism_Homo sapiens_hsa00565	1.85076528
16	Propanoate metabolism_Homo sapiens_hsa00640	1.74600073
17	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.73043448
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.72111527
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.71980542
20	Homologous recombination_Homo sapiens_hsa03440	1.71431090
21	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.70431417
22	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.67597639
23	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.67156265
24	Taste transduction_Homo sapiens_hsa04742	1.66337991
25	Selenocompound metabolism_Homo sapiens_hsa00450	1.65945886
26	Caffeine metabolism_Homo sapiens_hsa00232	1.63053828
27	Olfactory transduction_Homo sapiens_hsa04740	1.60057027
28	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.59043821
29	Morphine addiction_Homo sapiens_hsa05032	1.46279214
30	Retinol metabolism_Homo sapiens_hsa00830	1.43844229
31	Chemical carcinogenesis_Homo sapiens_hsa05204	1.43739418
32	Histidine metabolism_Homo sapiens_hsa00340	1.39104000
33	Serotonergic synapse_Homo sapiens_hsa04726	1.31601129
34	Fanconi anemia pathway_Homo sapiens_hsa03460	1.28018124
35	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.25860498
36	Basal transcription factors_Homo sapiens_hsa03022	1.24970643
37	Circadian entrainment_Homo sapiens_hsa04713	1.23655285
38	GABAergic synapse_Homo sapiens_hsa04727	1.23015569
39	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.22390143
40	beta-Alanine metabolism_Homo sapiens_hsa00410	1.21406898
41	Glutamatergic synapse_Homo sapiens_hsa04724	1.19194077
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.18029649
43	Glycerolipid metabolism_Homo sapiens_hsa00561	1.17499020
44	Insulin secretion_Homo sapiens_hsa04911	1.16850991
45	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.11028133
46	Protein export_Homo sapiens_hsa03060	1.10209819
47	Salivary secretion_Homo sapiens_hsa04970	1.08244356
48	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.03911378
49	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.02688534
50	Peroxisome_Homo sapiens_hsa04146	1.00399745
51	Calcium signaling pathway_Homo sapiens_hsa04020	0.94444250
52	Circadian rhythm_Homo sapiens_hsa04710	0.92850536
53	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.91805980
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.89780540
55	Regulation of autophagy_Homo sapiens_hsa04140	0.87296722
56	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.84365462
57	Fatty acid degradation_Homo sapiens_hsa00071	0.79312394
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.76749542
59	Lysine degradation_Homo sapiens_hsa00310	0.75350413
60	RNA polymerase_Homo sapiens_hsa03020	0.73568608
61	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.71921982
62	RNA degradation_Homo sapiens_hsa03018	0.70561928
63	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.70103824
64	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.68143435
65	Oxidative phosphorylation_Homo sapiens_hsa00190	0.67811793
66	Sphingolipid metabolism_Homo sapiens_hsa00600	0.65209353
67	Dopaminergic synapse_Homo sapiens_hsa04728	0.64320748
68	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.61982132
69	One carbon pool by folate_Homo sapiens_hsa00670	0.60230207
70	Fat digestion and absorption_Homo sapiens_hsa04975	0.58766170
71	Long-term depression_Homo sapiens_hsa04730	0.58429116
72	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.55178766
73	Non-homologous end-joining_Homo sapiens_hsa03450	0.54161434
74	Metabolic pathways_Homo sapiens_hsa01100	0.52755013
75	cAMP signaling pathway_Homo sapiens_hsa04024	0.52037845
76	Huntingtons disease_Homo sapiens_hsa05016	0.50701152
77	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.50665539
78	Purine metabolism_Homo sapiens_hsa00230	0.50549332
79	Amphetamine addiction_Homo sapiens_hsa05031	0.49472141
80	Cocaine addiction_Homo sapiens_hsa05030	0.48445865
81	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.46444506
82	Sulfur metabolism_Homo sapiens_hsa00920	0.45959191
83	Cholinergic synapse_Homo sapiens_hsa04725	0.44599174
84	Renin secretion_Homo sapiens_hsa04924	0.43803767
85	Gastric acid secretion_Homo sapiens_hsa04971	0.43700576
86	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.43434786
87	Collecting duct acid secretion_Homo sapiens_hsa04966	0.42802210
88	Fatty acid metabolism_Homo sapiens_hsa01212	0.39855254
89	Mineral absorption_Homo sapiens_hsa04978	0.39516006
90	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.38614139
91	Pancreatic secretion_Homo sapiens_hsa04972	0.38068960
92	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.36978314
93	Type I diabetes mellitus_Homo sapiens_hsa04940	0.34838565
94	Asthma_Homo sapiens_hsa05310	0.34132188
95	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.32205499
96	Parkinsons disease_Homo sapiens_hsa05012	0.30676352
97	Cardiac muscle contraction_Homo sapiens_hsa04260	0.29531389
98	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.27095009
99	Arginine and proline metabolism_Homo sapiens_hsa00330	0.26120040
100	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.25675262

SPATA6L

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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