ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	9.51702677
2	cilium movement (GO:0003341)	9.45692236
3	epithelial cilium movement (GO:0003351)	9.20140487
4	motile cilium assembly (GO:0044458)	8.14960439
5	axoneme assembly (GO:0035082)	7.18277125
6	regulation of cilium movement (GO:0003352)	7.06676038
7	sperm motility (GO:0030317)	6.22701075
8	cilium organization (GO:0044782)	4.87962513
9	protein polyglutamylation (GO:0018095)	4.86085267
10	regulation of microtubule-based movement (GO:0060632)	4.75658787
11	response to pheromone (GO:0019236)	4.74364017
12	cilium assembly (GO:0042384)	4.72742506
13	multicellular organism reproduction (GO:0032504)	4.71336218
14	acrosome reaction (GO:0007340)	4.64419582
15	left/right axis specification (GO:0070986)	4.60811416
16	left/right pattern formation (GO:0060972)	4.41815815
17	intraciliary transport (GO:0042073)	4.33758341
18	spermatid development (GO:0007286)	4.32029058
19	sperm capacitation (GO:0048240)	4.25807602
20	behavioral response to nicotine (GO:0035095)	4.25452342
21	microtubule bundle formation (GO:0001578)	4.19114053
22	L-fucose catabolic process (GO:0042355)	4.15082092
23	fucose catabolic process (GO:0019317)	4.15082092
24	L-fucose metabolic process (GO:0042354)	4.15082092
25	protein localization to cilium (GO:0061512)	4.00995109
26	microtubule depolymerization (GO:0007019)	3.96306696
27	centriole assembly (GO:0098534)	3.93693747
28	cilium morphogenesis (GO:0060271)	3.91169281
29	piRNA metabolic process (GO:0034587)	3.81659512
30	fusion of sperm to egg plasma membrane (GO:0007342)	3.79210609
31	centriole replication (GO:0007099)	3.77923102
32	microtubule polymerization or depolymerization (GO:0031109)	3.73797714
33	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.70612455
34	cellular ketone body metabolic process (GO:0046950)	3.69980062
35	cellular component assembly involved in morphogenesis (GO:0010927)	3.67859598
36	nonmotile primary cilium assembly (GO:0035058)	3.66827804
37	phosphatidylethanolamine metabolic process (GO:0046337)	3.59410132
38	reproduction (GO:0000003)	3.49645425
39	ventricular system development (GO:0021591)	3.47859084
40	sperm-egg recognition (GO:0035036)	3.45364411
41	ketone body metabolic process (GO:1902224)	3.31082614
42	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.11054949
43	cell projection assembly (GO:0030031)	3.07924164
44	one-carbon compound transport (GO:0019755)	3.06806579
45	photoreceptor cell maintenance (GO:0045494)	3.06709607
46	single fertilization (GO:0007338)	3.03057343
47	single strand break repair (GO:0000012)	3.02830398
48	plasma membrane fusion (GO:0045026)	3.01129132
49	establishment of protein localization to Golgi (GO:0072600)	2.98044513
50	cell-cell recognition (GO:0009988)	2.97990598
51	indole-containing compound catabolic process (GO:0042436)	2.96449480
52	indolalkylamine catabolic process (GO:0046218)	2.96449480
53	tryptophan catabolic process (GO:0006569)	2.96449480
54	indolalkylamine metabolic process (GO:0006586)	2.94384331
55	DNA methylation involved in gamete generation (GO:0043046)	2.94122827
56	microtubule-based movement (GO:0007018)	2.91865745
57	negative regulation of T cell differentiation in thymus (GO:0033085)	2.89977132
58	organic cation transport (GO:0015695)	2.89805895
59	response to xenobiotic stimulus (GO:0009410)	2.88525727
60	protein targeting to Golgi (GO:0000042)	2.86395104
61	spermatogenesis (GO:0007283)	2.82073889
62	smoothened signaling pathway (GO:0007224)	2.81785684
63	male gamete generation (GO:0048232)	2.81764946
64	detection of light stimulus involved in sensory perception (GO:0050962)	2.81054483
65	detection of light stimulus involved in visual perception (GO:0050908)	2.81054483
66	exogenous drug catabolic process (GO:0042738)	2.77867193
67	determination of left/right symmetry (GO:0007368)	2.77761547
68	retinal cone cell development (GO:0046549)	2.77158572
69	negative regulation of inclusion body assembly (GO:0090084)	2.75178680
70	cornea development in camera-type eye (GO:0061303)	2.71716838
71	male meiosis I (GO:0007141)	2.71188537
72	tryptophan metabolic process (GO:0006568)	2.70935848
73	kynurenine metabolic process (GO:0070189)	2.70315068
74	spinal cord motor neuron differentiation (GO:0021522)	2.70216539
75	rRNA methylation (GO:0031167)	2.69049920
76	calcium ion-dependent exocytosis (GO:0017156)	2.68750889
77	DNA deamination (GO:0045006)	2.67833617
78	rRNA catabolic process (GO:0016075)	2.64016150
79	seminiferous tubule development (GO:0072520)	2.63607095
80	gamete generation (GO:0007276)	2.62548485
81	protein localization to Golgi apparatus (GO:0034067)	2.61472219
82	microtubule severing (GO:0051013)	2.60010492
83	aldehyde catabolic process (GO:0046185)	2.59151351
84	fertilization (GO:0009566)	2.58934444
85	determination of bilateral symmetry (GO:0009855)	2.58478578
86	lateral ventricle development (GO:0021670)	2.58383863
87	vitamin transmembrane transport (GO:0035461)	2.56274553
88	preassembly of GPI anchor in ER membrane (GO:0016254)	2.55901823
89	rRNA modification (GO:0000154)	2.51302239
90	specification of symmetry (GO:0009799)	2.51202426
91	primary alcohol catabolic process (GO:0034310)	2.49886294
92	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.47336321
93	regulation of action potential (GO:0098900)	2.47256975
94	drug catabolic process (GO:0042737)	2.46112025
95	ubiquinone biosynthetic process (GO:0006744)	2.46036499
96	negative regulation of telomere maintenance (GO:0032205)	2.45936889
97	nephron epithelium morphogenesis (GO:0072088)	2.43425048
98	nephron tubule morphogenesis (GO:0072078)	2.43425048
99	axonemal dynein complex assembly (GO:0070286)	11.8924838
100	cilium or flagellum-dependent cell motility (GO:0001539)	10.2768092

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.37156145
2	VDR_22108803_ChIP-Seq_LS180_Human	3.27249735
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.81902978
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.41980500
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.38211180
6	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.18941518
7	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.18767060
8	EZH2_22144423_ChIP-Seq_EOC_Human	2.18241120
9	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	2.07401528
10	FUS_26573619_Chip-Seq_HEK293_Human	1.95741123
11	ER_23166858_ChIP-Seq_MCF-7_Human	1.95324932
12	CBP_20019798_ChIP-Seq_JUKART_Human	1.85742511
13	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.85742511
14	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.83114991
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.78222419
16	TAF15_26573619_Chip-Seq_HEK293_Human	1.74611281
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.72804753
18	P300_19829295_ChIP-Seq_ESCs_Human	1.70606476
19	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.70094011
20	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.69658396
21	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.68953305
22	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.68953305
23	DROSHA_22980978_ChIP-Seq_HELA_Human	1.68512690
24	IGF1R_20145208_ChIP-Seq_DFB_Human	1.67768213
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.49610038
26	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.47924573
27	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.47595622
28	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.47595622
29	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.47010056
30	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.46601648
31	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.46016400
32	AR_25329375_ChIP-Seq_VCAP_Human	1.45891465
33	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.45121326
34	BCAT_22108803_ChIP-Seq_LS180_Human	1.45016766
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.44305567
36	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.43841989
37	STAT3_23295773_ChIP-Seq_U87_Human	1.43785899
38	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.43123318
39	EWS_26573619_Chip-Seq_HEK293_Human	1.41584239
40	ERA_21632823_ChIP-Seq_H3396_Human	1.41127937
41	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.40938923
42	NCOR_22424771_ChIP-Seq_293T_Human	1.39614310
43	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.39542016
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.38849120
45	IRF1_19129219_ChIP-ChIP_H3396_Human	1.38267653
46	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.37285273
47	TP53_22573176_ChIP-Seq_HFKS_Human	1.35709170
48	MYC_19829295_ChIP-Seq_ESCs_Human	1.32938150
49	NANOG_19829295_ChIP-Seq_ESCs_Human	1.31788389
50	SOX2_19829295_ChIP-Seq_ESCs_Human	1.31788389
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31219825
52	NANOG_20526341_ChIP-Seq_ESCs_Human	1.30621392
53	TCF4_23295773_ChIP-Seq_U87_Human	1.30238550
54	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.29888354
55	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.28899517
56	TCF4_22108803_ChIP-Seq_LS180_Human	1.28418274
57	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27607321
58	ETV1_20927104_ChIP-Seq_GIST48_Human	1.26700746
59	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.26383116
60	REST_21632747_ChIP-Seq_MESCs_Mouse	1.25781093
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.23579751
62	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.23126277
63	TAF2_19829295_ChIP-Seq_ESCs_Human	1.22838324
64	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.22715788
65	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.22348678
66	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.21654142
67	PHF8_20622853_ChIP-Seq_HELA_Human	1.21595206
68	HOXB7_26014856_ChIP-Seq_BT474_Human	1.21473264
69	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.20041703
70	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.19536756
71	AR_20517297_ChIP-Seq_VCAP_Human	1.17793864
72	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.17774482
73	RBPJ_21746931_ChIP-Seq_IB4_Human	1.17675602
74	AR_21572438_ChIP-Seq_LNCaP_Human	1.16551646
75	OCT4_20526341_ChIP-Seq_ESCs_Human	1.15445465
76	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.15208914
77	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.14994593
78	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14542570
79	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12771543
80	SMRT_27268052_Chip-Seq_Bcells_Human	1.12468438
81	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.11637846
82	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.11417114
83	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.10844171
84	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.10604403
85	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.10569152
86	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.10258612
87	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.09812593
88	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.09653478
89	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.09161914
90	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.08477353
91	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.08211865
92	NFYB_21822215_ChIP-Seq_K562_Human	1.07169329
93	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.06981888
94	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.06628464
95	TBL1_22424771_ChIP-Seq_293T_Human	1.06360698
96	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.06322245
97	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.05967356
98	CDX2_22108803_ChIP-Seq_LS180_Human	1.04531554
99	MYC_18940864_ChIP-ChIP_HL60_Human	1.04264871
100	CEBPB_22108803_ChIP-Seq_LS180_Human	1.03836646

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	3.85339412
2	MP0008875_abnormal_xenobiotic_pharmacok	3.68994276
3	MP0002653_abnormal_ependyma_morphology	3.47451849
4	MP0001984_abnormal_olfaction	2.70787879
5	MP0003878_abnormal_ear_physiology	2.58764383
6	MP0005377_hearing/vestibular/ear_phenot	2.58764383
7	MP0002102_abnormal_ear_morphology	2.54720190
8	MP0004043_abnormal_pH_regulation	2.41845045
9	MP0005551_abnormal_eye_electrophysiolog	2.27605104
10	MP0004133_heterotaxia	2.14514130
11	MP0002876_abnormal_thyroid_physiology	2.10199905
12	MP0003011_delayed_dark_adaptation	2.09764444
13	MP0008877_abnormal_DNA_methylation	2.08065548
14	MP0001968_abnormal_touch/_nociception	2.07629585
15	MP0003698_abnormal_male_reproductive	2.05956659
16	MP0001986_abnormal_taste_sensitivity	1.96467410
17	MP0005646_abnormal_pituitary_gland	1.94876939
18	MP0002277_abnormal_respiratory_mucosa	1.94673551
19	MP0001929_abnormal_gametogenesis	1.94598338
20	MP0008789_abnormal_olfactory_epithelium	1.81195389
21	MP0005253_abnormal_eye_physiology	1.79397121
22	MP0002638_abnormal_pupillary_reflex	1.66143241
23	MP0003195_calcinosis	1.64390543
24	MP0001485_abnormal_pinna_reflex	1.57134070
25	MP0009046_muscle_twitch	1.56580327
26	MP0009745_abnormal_behavioral_response	1.56169982
27	MP0003718_maternal_effect	1.56161557
28	MP0002735_abnormal_chemical_nociception	1.55981217
29	MP0002282_abnormal_trachea_morphology	1.55650458
30	MP0001486_abnormal_startle_reflex	1.53646481
31	MP0008872_abnormal_physiological_respon	1.53632875
32	MP0003136_yellow_coat_color	1.53352936
33	MP0006292_abnormal_olfactory_placode	1.50252042
34	MP0006072_abnormal_retinal_apoptosis	1.47846905
35	MP0002272_abnormal_nervous_system	1.44797112
36	MP0003880_abnormal_central_pattern	1.43944290
37	MP0002736_abnormal_nociception_after	1.43078790
38	MP0006276_abnormal_autonomic_nervous	1.41456273
39	MP0001529_abnormal_vocalization	1.41126339
40	MP0002132_abnormal_respiratory_system	1.40257151
41	MP0002160_abnormal_reproductive_system	1.39267503
42	MP0003646_muscle_fatigue	1.38117329
43	MP0004142_abnormal_muscle_tone	1.35955290
44	MP0002138_abnormal_hepatobiliary_system	1.34063175
45	MP0005645_abnormal_hypothalamus_physiol	1.33502721
46	MP0005084_abnormal_gallbladder_morpholo	1.32680155
47	MP0009780_abnormal_chondrocyte_physiolo	1.30610255
48	MP0002928_abnormal_bile_duct	1.28083379
49	MP0001501_abnormal_sleep_pattern	1.28045580
50	MP0002734_abnormal_mechanical_nocicepti	1.23838211
51	MP0001765_abnormal_ion_homeostasis	1.20789023
52	MP0005499_abnormal_olfactory_system	1.18972947
53	MP0005394_taste/olfaction_phenotype	1.18972947
54	MP0002210_abnormal_sex_determination	1.17895380
55	MP0001970_abnormal_pain_threshold	1.16810784
56	MP0005423_abnormal_somatic_nervous	1.16468412
57	MP0002837_dystrophic_cardiac_calcinosis	1.16006906
58	MP0000427_abnormal_hair_cycle	1.15947764
59	MP0000372_irregular_coat_pigmentation	1.14849104
60	MP0000631_abnormal_neuroendocrine_gland	1.14684903
61	MP0000383_abnormal_hair_follicle	1.13345591
62	MP0005389_reproductive_system_phenotype	1.12271454
63	MP0004885_abnormal_endolymph	1.11369864
64	MP0002557_abnormal_social/conspecific_i	1.10901997
65	MP0002234_abnormal_pharynx_morphology	1.09419411
66	MP0002572_abnormal_emotion/affect_behav	1.09368466
67	MP0001905_abnormal_dopamine_level	1.07219578
68	MP0001502_abnormal_circadian_rhythm	1.05731034
69	MP0000026_abnormal_inner_ear	1.05652594
70	MP0002161_abnormal_fertility/fecundity	1.03065292
71	MP0000653_abnormal_sex_gland	1.00433760
72	MP0002229_neurodegeneration	1.00079937
73	MP0002733_abnormal_thermal_nociception	0.99446735
74	MP0005379_endocrine/exocrine_gland_phen	0.99270540
75	MP0008995_early_reproductive_senescence	0.98412894
76	MP0001963_abnormal_hearing_physiology	0.98092874
77	MP0010386_abnormal_urinary_bladder	0.97538222
78	MP0002067_abnormal_sensory_capabilities	0.96265451
79	MP0005636_abnormal_mineral_homeostasis	0.95450428
80	MP0001145_abnormal_male_reproductive	0.94487949
81	MP0004019_abnormal_vitamin_homeostasis	0.94095839
82	MP0003787_abnormal_imprinting	0.93621762
83	MP0005195_abnormal_posterior_eye	0.91616043
84	MP0004742_abnormal_vestibular_system	0.87055152
85	MP0000613_abnormal_salivary_gland	0.85186932
86	MP0005395_other_phenotype	0.84374743
87	MP0004924_abnormal_behavior	0.83205215
88	MP0005386_behavior/neurological_phenoty	0.83205215
89	MP0001293_anophthalmia	0.83089846
90	MP0001324_abnormal_eye_pigmentation	0.83010338
91	MP0002752_abnormal_somatic_nervous	0.80337073
92	MP0002064_seizures	0.79675100
93	MP0005391_vision/eye_phenotype	0.78672547
94	MP0005083_abnormal_biliary_tract	0.78302619
95	MP0008775_abnormal_heart_ventricle	0.74021506
96	MP0002063_abnormal_learning/memory/cond	0.70462187
97	MP0002693_abnormal_pancreas_physiology	0.68451875
98	MP0001919_abnormal_reproductive_system	0.68391328
99	MP0003252_abnormal_bile_duct	0.67585932
100	MP0004085_abnormal_heartbeat	0.67200448

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Dynein arm defect of respiratory motile cilia (HP:0012255)	8.44171700
2	Absent/shortened dynein arms (HP:0200106)	8.44171700
3	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	8.15805077
4	Abnormal respiratory motile cilium morphology (HP:0005938)	8.05386247
5	Abnormal respiratory epithelium morphology (HP:0012253)	8.05386247
6	Abnormal ciliary motility (HP:0012262)	7.82959829
7	Abnormal respiratory motile cilium physiology (HP:0012261)	7.65418776
8	Rhinitis (HP:0012384)	6.53534493
9	Chronic bronchitis (HP:0004469)	4.81496728
10	Bronchiectasis (HP:0002110)	4.73163392
11	Pancreatic fibrosis (HP:0100732)	4.62493261
12	True hermaphroditism (HP:0010459)	4.50498120
13	Molar tooth sign on MRI (HP:0002419)	4.41362186
14	Abnormality of midbrain morphology (HP:0002418)	4.41362186
15	Pancreatic cysts (HP:0001737)	4.35069421
16	Nephronophthisis (HP:0000090)	4.18101790
17	Chronic hepatic failure (HP:0100626)	4.16845886
18	Nasal polyposis (HP:0100582)	4.00024581
19	Abnormality of the renal medulla (HP:0100957)	3.50033382
20	Cystic liver disease (HP:0006706)	3.35923645
21	Infertility (HP:0000789)	3.30520675
22	Occipital encephalocele (HP:0002085)	3.26727818
23	Abnormality of the nasal mucosa (HP:0000433)	3.11210367
24	Medial flaring of the eyebrow (HP:0010747)	2.96569568
25	Abnormal rod and cone electroretinograms (HP:0008323)	2.95920503
26	Chronic sinusitis (HP:0011109)	2.86159338
27	Tubular atrophy (HP:0000092)	2.83425409
28	Tubulointerstitial nephritis (HP:0001970)	2.78747911
29	Recurrent sinusitis (HP:0011108)	2.71905856
30	Abnormality of the renal cortex (HP:0011035)	2.70858122
31	Attenuation of retinal blood vessels (HP:0007843)	2.67776092
32	Polydipsia (HP:0001959)	2.67369462
33	Abnormal drinking behavior (HP:0030082)	2.67369462
34	Sclerocornea (HP:0000647)	2.66184365
35	Postaxial foot polydactyly (HP:0001830)	2.63557514
36	Bronchitis (HP:0012387)	2.63217518
37	Type II lissencephaly (HP:0007260)	2.62092512
38	Congenital hepatic fibrosis (HP:0002612)	2.55964082
39	Decreased central vision (HP:0007663)	2.50938318
40	Anencephaly (HP:0002323)	2.48799651
41	Bony spicule pigmentary retinopathy (HP:0007737)	2.45187426
42	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.42425743
43	Male pseudohermaphroditism (HP:0000037)	2.38704170
44	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.37165880
45	Gait imbalance (HP:0002141)	2.36748670
46	Congenital stationary night blindness (HP:0007642)	2.34647569
47	Congenital primary aphakia (HP:0007707)	2.32363798
48	Abnormality of macular pigmentation (HP:0008002)	2.31055826
49	Male infertility (HP:0003251)	2.30232345
50	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.16269349
51	Polyuria (HP:0000103)	2.12396077
52	Severe visual impairment (HP:0001141)	2.09289943
53	Decreased circulating renin level (HP:0003351)	2.08835607
54	Nephrogenic diabetes insipidus (HP:0009806)	2.08485605
55	Bile duct proliferation (HP:0001408)	2.08156105
56	Abnormal biliary tract physiology (HP:0012439)	2.08156105
57	Tubulointerstitial abnormality (HP:0001969)	2.03334369
58	Pendular nystagmus (HP:0012043)	2.02933331
59	Asplenia (HP:0001746)	2.02769641
60	Furrowed tongue (HP:0000221)	2.01334745
61	Abolished electroretinogram (ERG) (HP:0000550)	1.96750027
62	Postaxial hand polydactyly (HP:0001162)	1.95993139
63	Oculomotor apraxia (HP:0000657)	1.93764281
64	Cerebellar dysplasia (HP:0007033)	1.93347361
65	Hyperkalemia (HP:0002153)	1.92467357
66	Recurrent otitis media (HP:0000403)	1.92211638
67	Abnormal urine output (HP:0012590)	1.81791737
68	Genital tract atresia (HP:0001827)	1.79444585
69	Cone-rod dystrophy (HP:0000548)	1.79099022
70	Vaginal atresia (HP:0000148)	1.73358505
71	Abnormality of renal excretion (HP:0011036)	1.68255854
72	Preaxial hand polydactyly (HP:0001177)	1.67276284
73	Increased corneal curvature (HP:0100692)	1.66496030
74	Keratoconus (HP:0000563)	1.66496030
75	Poor coordination (HP:0002370)	1.66207020
76	Hyperactive renin-angiotensin system (HP:0000841)	1.64416477
77	Retinitis pigmentosa (HP:0000510)	1.64087741
78	Chronic otitis media (HP:0000389)	1.60918800
79	Stage 5 chronic kidney disease (HP:0003774)	1.60167381
80	Median cleft lip (HP:0000161)	1.58014184
81	Progressive cerebellar ataxia (HP:0002073)	1.57905831
82	Nephropathy (HP:0000112)	1.53579666
83	Renal cortical cysts (HP:0000803)	1.52153312
84	Tubulointerstitial fibrosis (HP:0005576)	1.51812163
85	Retinal dysplasia (HP:0007973)	1.48844783
86	Narrow forehead (HP:0000341)	1.47887763
87	Supernumerary spleens (HP:0009799)	1.43519201
88	Renal salt wasting (HP:0000127)	1.43381935
89	Aganglionic megacolon (HP:0002251)	1.43017041
90	Absent speech (HP:0001344)	1.42236752
91	Macular degeneration (HP:0000608)	1.42030524
92	Multicystic kidney dysplasia (HP:0000003)	1.41951983
93	Abnormality of renin-angiotensin system (HP:0000847)	1.41231727
94	Hypomagnesemia (HP:0002917)	1.40937401
95	Disproportionate short-trunk short stature (HP:0003521)	1.38517513
96	Lissencephaly (HP:0001339)	1.38031560
97	Prominent nasal bridge (HP:0000426)	1.37889349
98	Azoospermia (HP:0000027)	1.35582028
99	Abnormality of dental color (HP:0011073)	1.33759269
100	Optic nerve hypoplasia (HP:0000609)	1.33400589

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	5.71142837
2	FRK	3.97136974
3	MAP4K2	3.40486964
4	ADRBK2	2.89859617
5	WNK4	2.79450709
6	ZAK	2.68757642
7	TLK1	2.46151822
8	PNCK	2.40660451
9	BMPR1B	2.32348160
10	INSRR	2.27608304
11	PINK1	2.23866173
12	PLK4	2.23734424
13	GRK1	2.22368708
14	MST4	2.17559371
15	WNK3	2.11628522
16	TAOK3	2.02398983
17	STK16	1.76751075
18	OXSR1	1.53778991
19	PLK2	1.51943422
20	MAPK13	1.49740609
21	NUAK1	1.44267963
22	BCR	1.32875685
23	STK39	1.31834875
24	MAP3K4	1.29139469
25	MAPKAPK3	1.25951352
26	PTK2B	1.25884581
27	CASK	1.23344370
28	STK38L	1.21824882
29	ACVR1B	1.09693378
30	TXK	1.08079308
31	NME1	1.01115930
32	TRIM28	0.98044014
33	TSSK6	0.97661489
34	BRSK2	0.97630747
35	STK38	0.97460227
36	CAMKK2	0.93158993
37	DYRK2	0.89374303
38	TIE1	0.85634611
39	PHKG2	0.84692026
40	PHKG1	0.84692026
41	DAPK2	0.82710219
42	ADRBK1	0.82100076
43	PAK3	0.82074680
44	MUSK	0.80126785
45	PRKCG	0.74932946
46	CSNK1G2	0.71601199
47	PRKCQ	0.71107395
48	PRKCI	0.70932351
49	VRK1	0.70355688
50	PRKCE	0.70011465
51	CDK19	0.66597433
52	MKNK2	0.64699463
53	TNIK	0.64291077
54	FER	0.62799585
55	ERBB3	0.62446109
56	MAP2K6	0.61494752
57	NTRK3	0.59908348
58	MAP2K7	0.59324931
59	CSNK1G3	0.57949515
60	EPHA4	0.57791135
61	CSNK1G1	0.56239047
62	WNK1	0.52682461
63	MARK1	0.52593447
64	BCKDK	0.52146193
65	KIT	0.51550484
66	MAPKAPK5	0.51030618
67	EPHA2	0.47571949
68	TEC	0.46761498
69	PRKACA	0.46026469
70	CSNK1A1L	0.45888426
71	TGFBR1	0.45421133
72	NEK6	0.43601114
73	CDK3	0.42605044
74	PLK3	0.42580966
75	IKBKB	0.40268649
76	CAMK2A	0.40230485
77	PRKD3	0.39764635
78	WEE1	0.39495224
79	PRKG1	0.38359183
80	CHUK	0.37937096
81	EIF2AK3	0.37711294
82	STK24	0.36897337
83	DYRK1B	0.36717077
84	PRKCA	0.36431907
85	CAMK1G	0.36419785
86	CSNK1A1	0.35985084
87	PRKAA2	0.35839807
88	PLK1	0.35524799
89	MAP3K7	0.35239760
90	IRAK1	0.34720786
91	MAP2K2	0.33891355
92	DYRK3	0.33367903
93	PRKCZ	0.32765565
94	CAMK1	0.32575773
95	PIK3CA	0.32172825
96	ITK	0.31793714
97	TRPM7	0.30031750
98	STK11	0.29203417
99	DYRK1A	0.28283981
100	RPS6KA5	0.28151318

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.11657751
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.82365201
3	Caffeine metabolism_Homo sapiens_hsa00232	2.62091032
4	Phototransduction_Homo sapiens_hsa04744	2.54159889
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.30147614
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.26000777
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.24607032
8	Butanoate metabolism_Homo sapiens_hsa00650	2.23615155
9	Nitrogen metabolism_Homo sapiens_hsa00910	2.21892411
10	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.17941041
11	Chemical carcinogenesis_Homo sapiens_hsa05204	2.13031189
12	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.06787133
13	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.96163518
14	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.87901116
15	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.78167335
16	Olfactory transduction_Homo sapiens_hsa04740	1.74792756
17	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.74439652
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.73497671
19	Huntingtons disease_Homo sapiens_hsa05016	1.72168058
20	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.67132751
21	Nicotine addiction_Homo sapiens_hsa05033	1.63872932
22	Ether lipid metabolism_Homo sapiens_hsa00565	1.55292397
23	Tryptophan metabolism_Homo sapiens_hsa00380	1.52139340
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.48864664
25	Retinol metabolism_Homo sapiens_hsa00830	1.48486458
26	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.45214590
27	ABC transporters_Homo sapiens_hsa02010	1.42061300
28	Taste transduction_Homo sapiens_hsa04742	1.40071335
29	Peroxisome_Homo sapiens_hsa04146	1.38191803
30	Basal transcription factors_Homo sapiens_hsa03022	1.38098159
31	Selenocompound metabolism_Homo sapiens_hsa00450	1.37923695
32	beta-Alanine metabolism_Homo sapiens_hsa00410	1.36387157
33	Histidine metabolism_Homo sapiens_hsa00340	1.36221460
34	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.35939796
35	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.31986018
36	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.31888351
37	Type I diabetes mellitus_Homo sapiens_hsa04940	1.27463602
38	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.19273863
39	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.19139077
40	Tyrosine metabolism_Homo sapiens_hsa00350	1.18361534
41	Allograft rejection_Homo sapiens_hsa05330	1.17666795
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.16607062
43	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.16336526
44	Phenylalanine metabolism_Homo sapiens_hsa00360	1.15276313
45	Asthma_Homo sapiens_hsa05310	1.14393063
46	RNA polymerase_Homo sapiens_hsa03020	1.13460736
47	Fatty acid degradation_Homo sapiens_hsa00071	1.11241586
48	Fanconi anemia pathway_Homo sapiens_hsa03460	1.10479210
49	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.06906723
50	Protein export_Homo sapiens_hsa03060	1.01376950
51	Regulation of autophagy_Homo sapiens_hsa04140	0.98480488
52	Propanoate metabolism_Homo sapiens_hsa00640	0.96878833
53	Cardiac muscle contraction_Homo sapiens_hsa04260	0.96454782
54	Salivary secretion_Homo sapiens_hsa04970	0.94988274
55	Graft-versus-host disease_Homo sapiens_hsa05332	0.94276467
56	Circadian rhythm_Homo sapiens_hsa04710	0.90406654
57	Parkinsons disease_Homo sapiens_hsa05012	0.89836461
58	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.89579278
59	RNA degradation_Homo sapiens_hsa03018	0.85219746
60	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.83527255
61	Serotonergic synapse_Homo sapiens_hsa04726	0.77304275
62	Morphine addiction_Homo sapiens_hsa05032	0.75464331
63	Insulin secretion_Homo sapiens_hsa04911	0.74240536
64	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.73778741
65	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.70830131
66	Purine metabolism_Homo sapiens_hsa00230	0.69328282
67	Fat digestion and absorption_Homo sapiens_hsa04975	0.66926668
68	Homologous recombination_Homo sapiens_hsa03440	0.66886983
69	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.65305775
70	Collecting duct acid secretion_Homo sapiens_hsa04966	0.65195898
71	Metabolic pathways_Homo sapiens_hsa01100	0.64498168
72	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.62981866
73	Glutathione metabolism_Homo sapiens_hsa00480	0.60591841
74	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.57336803
75	Circadian entrainment_Homo sapiens_hsa04713	0.56649846
76	Glutamatergic synapse_Homo sapiens_hsa04724	0.56250454
77	Alzheimers disease_Homo sapiens_hsa05010	0.55666446
78	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.54041939
79	GABAergic synapse_Homo sapiens_hsa04727	0.52068629
80	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.50892532
81	Calcium signaling pathway_Homo sapiens_hsa04020	0.49837417
82	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.49106810
83	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49043026
84	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.48658308
85	Steroid biosynthesis_Homo sapiens_hsa00100	0.48523801
86	Antigen processing and presentation_Homo sapiens_hsa04612	0.46749673
87	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.44717352
88	Fatty acid metabolism_Homo sapiens_hsa01212	0.43917582
89	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.41831291
90	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.41607895
91	One carbon pool by folate_Homo sapiens_hsa00670	0.41021786
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.40233010
93	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.39599696
94	Proteasome_Homo sapiens_hsa03050	0.39545568
95	Arginine and proline metabolism_Homo sapiens_hsa00330	0.38618161
96	Primary immunodeficiency_Homo sapiens_hsa05340	0.37718374
97	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.35058138
98	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.35053749
99	cAMP signaling pathway_Homo sapiens_hsa04024	0.34016715
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.33168015

RSPH10B2

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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