ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	7.61959082
2	motile cilium assembly (GO:0044458)	6.28156082
3	detection of light stimulus involved in visual perception (GO:0050908)	5.75818867
4	detection of light stimulus involved in sensory perception (GO:0050962)	5.75818867
5	DNA methylation involved in gamete generation (GO:0043046)	5.51621082
6	synaptonemal complex assembly (GO:0007130)	5.44276846
7	sperm motility (GO:0030317)	5.40110568
8	synaptonemal complex organization (GO:0070193)	5.12724414
9	cilium or flagellum-dependent cell motility (GO:0001539)	5.04555360
10	male meiosis (GO:0007140)	5.02676103
11	negative regulation of protein localization to cell surface (GO:2000009)	5.00318294
12	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	4.90393166
13	fusion of sperm to egg plasma membrane (GO:0007342)	4.55982039
14	response to pheromone (GO:0019236)	4.37093565
15	axonemal dynein complex assembly (GO:0070286)	4.29917881
16	acrosome reaction (GO:0007340)	4.28554075
17	spermatid development (GO:0007286)	4.26209753
18	sperm-egg recognition (GO:0035036)	4.24065930
19	binding of sperm to zona pellucida (GO:0007339)	4.11438360
20	meiosis I (GO:0007127)	4.02197606
21	male meiosis I (GO:0007141)	3.98420065
22	epithelial cilium movement (GO:0003351)	3.93304220
23	negative regulation of potassium ion transmembrane transport (GO:1901380)	3.85909753
24	negative regulation of sodium ion transport (GO:0010766)	3.84419761
25	paraxial mesoderm development (GO:0048339)	3.76483250
26	meiotic nuclear division (GO:0007126)	3.75157108
27	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.73069927
28	chromosome organization involved in meiosis (GO:0070192)	3.72243802
29	microtubule depolymerization (GO:0007019)	3.71367318
30	regulation of cilium movement (GO:0003352)	3.70537819
31	atrial cardiac muscle cell action potential (GO:0086014)	3.63644580
32	cell-cell recognition (GO:0009988)	3.63431515
33	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.57354401
34	multicellular organism reproduction (GO:0032504)	3.56664871
35	positive regulation of fibroblast migration (GO:0010763)	3.52907688
36	microtubule severing (GO:0051013)	3.52483942
37	acrosome assembly (GO:0001675)	3.49522329
38	protein localization to cilium (GO:0061512)	3.47772672
39	rhodopsin mediated signaling pathway (GO:0016056)	3.42462541
40	regulation of hippo signaling (GO:0035330)	3.41267865
41	nuclear pore organization (GO:0006999)	3.40918515
42	labyrinthine layer development (GO:0060711)	3.39887107
43	cell migration in hindbrain (GO:0021535)	3.37523295
44	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	3.31884120
45	histone exchange (GO:0043486)	3.31286164
46	protein insertion into membrane (GO:0051205)	3.30813365
47	plasma membrane fusion (GO:0045026)	3.30529021
48	photoreceptor cell maintenance (GO:0045494)	3.29210363
49	interferon-gamma secretion (GO:0072643)	3.24032213
50	male gamete generation (GO:0048232)	3.21720759
51	spermatogenesis (GO:0007283)	3.20762179
52	regulation of short-term neuronal synaptic plasticity (GO:0048172)	3.18889219
53	single strand break repair (GO:0000012)	3.18452706
54	cell wall macromolecule catabolic process (GO:0016998)	3.17285059
55	cell wall macromolecule metabolic process (GO:0044036)	3.17285059
56	regulation of meiosis I (GO:0060631)	3.16245719
57	regulation of tight junction assembly (GO:2000810)	3.15131949
58	nuclear pore complex assembly (GO:0051292)	3.14214779
59	behavioral response to ethanol (GO:0048149)	3.11936678
60	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.03998799
61	reproduction (GO:0000003)	2.98511676
62	kinetochore assembly (GO:0051382)	2.97862962
63	gamete generation (GO:0007276)	2.95398986
64	negative regulation of fibroblast apoptotic process (GO:2000270)	2.91712661
65	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.89365696
66	meiotic cell cycle process (GO:1903046)	2.87734408
67	gene silencing by RNA (GO:0031047)	2.87431428
68	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.86817721
69	response to redox state (GO:0051775)	2.86249497
70	DNA replication-dependent nucleosome organization (GO:0034723)	2.84012647
71	DNA replication-dependent nucleosome assembly (GO:0006335)	2.84012647
72	cellular sodium ion homeostasis (GO:0006883)	2.83045702
73	regulation of RNA export from nucleus (GO:0046831)	2.82759502
74	cilium movement (GO:0003341)	2.81739466
75	spindle checkpoint (GO:0031577)	2.80590727
76	negative regulation of androgen receptor signaling pathway (GO:0060766)	2.79649770
77	negative regulation of inclusion body assembly (GO:0090084)	2.79162932
78	viral mRNA export from host cell nucleus (GO:0046784)	2.78961813
79	retinal cone cell development (GO:0046549)	2.78871651
80	cardiac muscle cell action potential (GO:0086001)	2.78171872
81	mitotic spindle checkpoint (GO:0071174)	2.76365652
82	kinetochore organization (GO:0051383)	2.76228556
83	chromatin remodeling at centromere (GO:0031055)	2.74332735
84	chaperone-mediated protein transport (GO:0072321)	2.73786401
85	protein localization to chromosome, centromeric region (GO:0071459)	2.72434845
86	germ cell development (GO:0007281)	2.70557803
87	negative regulation of chromosome segregation (GO:0051985)	2.69199041
88	poly(A)+ mRNA export from nucleus (GO:0016973)	2.68689856
89	axoneme assembly (GO:0035082)	2.66074359
90	negative regulation of organelle assembly (GO:1902116)	2.65951026
91	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.65882153
92	negative regulation of sister chromatid segregation (GO:0033046)	2.65882153
93	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.65882153
94	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.65882153
95	CTP biosynthetic process (GO:0006241)	2.62324958
96	CTP metabolic process (GO:0046036)	2.62324958
97	GTP biosynthetic process (GO:0006183)	2.60976408
98	microtubule polymerization or depolymerization (GO:0031109)	2.58784577
99	regulation of protein localization to cell surface (GO:2000008)	2.58765098
100	DNA alkylation (GO:0006305)	2.57963992

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	7.80333929
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	5.41877101
3	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.24608940
4	FOXM1_23109430_ChIP-Seq_U2OS_Human	3.13146697
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.98053215
6	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.68129916
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.62080138
8	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.54551249
9	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.31281772
10	NACC1_18358816_ChIP-ChIP_MESCs_Mouse	1.90133840
11	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.79168828
12	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.74810078
13	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.74383553
14	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.73844236
15	SMAD1_18555785_ChIP-Seq_MESCs_Mouse	1.72495505
16	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.69867608
17	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.68633591
18	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.67723451
19	ZNF274_21170338_ChIP-Seq_K562_Hela	1.67578484
20	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.67176733
21	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.65637601
22	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.59777286
23	EZH2_22144423_ChIP-Seq_EOC_Human	1.57147075
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.55928774
25	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.52475658
26	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.51663341
27	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.48493871
28	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.46315310
29	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.45656147
30	REST_21632747_ChIP-Seq_MESCs_Mouse	1.42955021
31	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.37295051
32	E2F7_22180533_ChIP-Seq_HELA_Human	1.35885162
33	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.35808644
34	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.35366337
35	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.33507799
36	* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.31248256
37	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.28871756
38	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.26073763
39	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.26073763
40	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.26073763
41	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.24793765
42	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.21583274
43	AR_21909140_ChIP-Seq_LNCAP_Human	1.19834855
44	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.16020125
45	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.15653466
46	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.15492179
47	CTCF_20526341_ChIP-Seq_ESCs_Human	1.14510241
48	VDR_22108803_ChIP-Seq_LS180_Human	1.14119345
49	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.13113083
50	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.12829839
51	NANOG_21062744_ChIP-ChIP_HESCs_Human	1.12084973
52	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.10020112
53	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.08952847
54	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.07810895
55	GATA3_21867929_ChIP-Seq_CD8_Mouse	1.02199967
56	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.01643877
57	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.01199119
58	STAT1_17558387_ChIP-Seq_HELA_Human	0.99926017
59	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.99832225
60	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	0.99240390
61	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.98883675
62	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.98866856
63	ELK4_26923725_Chip-Seq_MESODERM_Mouse	0.98546299
64	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.98472801
65	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.98016666
66	NANOG_18358816_ChIP-ChIP_MESCs_Mouse	0.96480219
67	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	0.95503770
68	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	0.95097839
69	NANOG_18692474_ChIP-Seq_MESCs_Mouse	0.94964035
70	POU5F1_18692474_ChIP-Seq_MESCs_Mouse	0.94280285
71	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.91767093
72	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.91550072
73	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.90859375
74	* KAP1_27257070_Chip-Seq_ESCs_Mouse	0.89005879
75	NANOG_20526341_ChIP-Seq_ESCs_Human	0.88873927
76	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	0.88635378
77	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.88088978
78	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.87460319
79	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.86800383
80	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	0.86731679
81	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.85417408
82	* KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.85053916
83	* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	0.84820236
84	NANOG_16518401_ChIP-PET_MESCs_Mouse	0.84199960
85	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.84106583
86	SALL4_18804426_ChIP-ChIP_MESCs_Mouse	0.83365318
87	* CTCF_27219007_Chip-Seq_Bcells_Human	0.81964699
88	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.81047951
89	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.80446199
90	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	0.80111704
91	* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.79178279
92	PHF8_20622854_ChIP-Seq_HELA_Human	0.78907170
93	SETDB1_19884257_ChIP-Seq_MESCs_Mouse	0.78850049
94	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	0.77822044
95	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.77741448
96	STAT1_20625510_ChIP-Seq_HELA_Human	0.77508891
97	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.77462639
98	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	0.76799281
99	KLF4_18555785_ChIP-Seq_MESCs_Mouse	0.76309578
100	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	0.75608098

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003011_delayed_dark_adaptation	5.32815658
2	MP0005410_abnormal_fertilization	5.32724698
3	MP0005423_abnormal_somatic_nervous	4.41932665
4	MP0005551_abnormal_eye_electrophysiolog	3.92523318
5	MP0001986_abnormal_taste_sensitivity	3.87810656
6	MP0003950_abnormal_plasma_membrane	3.83710406
7	MP0003698_abnormal_male_reproductive	2.79709458
8	MP0005253_abnormal_eye_physiology	2.74194157
9	MP0000537_abnormal_urethra_morphology	2.69865672
10	MP0001929_abnormal_gametogenesis	2.58961986
11	MP0006072_abnormal_retinal_apoptosis	2.51342706
12	MP0008877_abnormal_DNA_methylation	2.32337833
13	MP0005248_abnormal_Harderian_gland	2.22802950
14	MP0003111_abnormal_nucleus_morphology	2.21404365
15	MP0003693_abnormal_embryo_hatching	2.15273187
16	MP0001661_extended_life_span	1.96262036
17	MP0002210_abnormal_sex_determination	1.94592410
18	MP0001145_abnormal_male_reproductive	1.88524091
19	MP0004233_abnormal_muscle_weight	1.85270647
20	MP0004957_abnormal_blastocyst_morpholog	1.82208372
21	MP0010386_abnormal_urinary_bladder	1.81450631
22	MP0008057_abnormal_DNA_replication	1.80403493
23	MP0003880_abnormal_central_pattern	1.79766787
24	MP0003718_maternal_effect	1.71515004
25	MP0005195_abnormal_posterior_eye	1.71092162
26	MP0002161_abnormal_fertility/fecundity	1.67524449
27	MP0005623_abnormal_meninges_morphology	1.66474905
28	MP0008260_abnormal_autophagy	1.62803699
29	MP0008058_abnormal_DNA_repair	1.57235518
30	MP0005670_abnormal_white_adipose	1.53877983
31	MP0001346_abnormal_lacrimal_gland	1.52370812
32	MP0003136_yellow_coat_color	1.51770090
33	MP0005391_vision/eye_phenotype	1.51625022
34	MP0000653_abnormal_sex_gland	1.50510962
35	MP0010094_abnormal_chromosome_stability	1.49065340
36	MP0005646_abnormal_pituitary_gland	1.45649997
37	MP0001486_abnormal_startle_reflex	1.41877579
38	MP0008007_abnormal_cellular_replicative	1.32659147
39	MP0009046_muscle_twitch	1.32566947
40	MP0001502_abnormal_circadian_rhythm	1.31193851
41	MP0003137_abnormal_impulse_conducting	1.30420662
42	MP0003077_abnormal_cell_cycle	1.29486076
43	MP0005257_abnormal_intraocular_pressure	1.26938820
44	MP0004145_abnormal_muscle_electrophysio	1.22595417
45	MP0009840_abnormal_foam_cell	1.21929650
46	MP0004215_abnormal_myocardial_fiber	1.20287787
47	MP0004019_abnormal_vitamin_homeostasis	1.19989801
48	MP0000462_abnormal_digestive_system	1.17895458
49	MP0002184_abnormal_innervation	1.07166199
50	MP0002752_abnormal_somatic_nervous	1.02421854
51	MP0004782_abnormal_surfactant_physiolog	1.00043081
52	MP0000631_abnormal_neuroendocrine_gland	0.99640023
53	MP0002090_abnormal_vision	0.99358285
54	MP0002638_abnormal_pupillary_reflex	0.99347732
55	MP0000751_myopathy	0.97099755
56	MP0002229_neurodegeneration	0.96958362
57	MP0008932_abnormal_embryonic_tissue	0.96956822
58	MP0000534_abnormal_ureter_morphology	0.94941807
59	MP0003119_abnormal_digestive_system	0.92474132
60	MP0003115_abnormal_respiratory_system	0.89601967
61	MP0005395_other_phenotype	0.89581270
62	MP0003861_abnormal_nervous_system	0.89272653
63	MP0004270_analgesia	0.89066430
64	MP0001984_abnormal_olfaction	0.88873004
65	MP0002127_abnormal_cardiovascular_syste	0.88418507
66	MP0003635_abnormal_synaptic_transmissio	0.87748001
67	MP0001324_abnormal_eye_pigmentation	0.86481251
68	MP0001727_abnormal_embryo_implantation	0.83285356
69	MP0002332_abnormal_exercise_endurance	0.81507061
70	MP0001849_ear_inflammation	0.80927312
71	MP0003634_abnormal_glial_cell	0.80194065
72	MP0002882_abnormal_neuron_morphology	0.79681009
73	MP0003938_abnormal_ear_development	0.79449247
74	MP0002102_abnormal_ear_morphology	0.78285654
75	MP0004133_heterotaxia	0.78235401
76	MP0002063_abnormal_learning/memory/cond	0.77544836
77	MP0000750_abnormal_muscle_regeneration	0.77407943
78	MP0001293_anophthalmia	0.77019103
79	MP0002139_abnormal_hepatobiliary_system	0.76999766
80	MP0003937_abnormal_limbs/digits/tail_de	0.76569672
81	MP0002272_abnormal_nervous_system	0.75096403
82	MP0001963_abnormal_hearing_physiology	0.73041173
83	MP0002064_seizures	0.72868387
84	MP0002152_abnormal_brain_morphology	0.71423940
85	MP0001905_abnormal_dopamine_level	0.70700793
86	MP0001756_abnormal_urination	0.69395466
87	MP0002734_abnormal_mechanical_nocicepti	0.68611512
88	MP0002085_abnormal_embryonic_tissue	0.68368005
89	MP0004742_abnormal_vestibular_system	0.68148245
90	MP0003646_muscle_fatigue	0.67698206
91	MP0001286_abnormal_eye_development	0.65488285
92	MP0010030_abnormal_orbit_morphology	0.65073923
93	MP0003283_abnormal_digestive_organ	0.65041222
94	MP0000955_abnormal_spinal_cord	0.64427125
95	MP0003786_premature_aging	0.64308327
96	MP0001730_embryonic_growth_arrest	0.63837890
97	MP0003045_fibrosis	0.62590453
98	MP0000778_abnormal_nervous_system	0.59988163
99	MP0003699_abnormal_female_reproductive	0.59847444
100	MP0001697_abnormal_embryo_size	0.57278998

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	6.69101214
2	Severe visual impairment (HP:0001141)	6.65110709
3	Central scotoma (HP:0000603)	6.46942181
4	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.46851575
5	Absent/shortened dynein arms (HP:0200106)	6.46851575
6	Abnormality of macular pigmentation (HP:0008002)	5.61173296
7	Abnormal rod and cone electroretinograms (HP:0008323)	5.30242165
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	5.07687957
9	Bony spicule pigmentary retinopathy (HP:0007737)	4.68667653
10	Abnormal respiratory epithelium morphology (HP:0012253)	4.47109967
11	Abnormal respiratory motile cilium morphology (HP:0005938)	4.47109967
12	Scotoma (HP:0000575)	4.13606104
13	Aplasia/Hypoplasia of the fovea (HP:0008060)	4.09228973
14	Hypoplasia of the fovea (HP:0007750)	4.09228973
15	Attenuation of retinal blood vessels (HP:0007843)	3.57039927
16	Abnormal respiratory motile cilium physiology (HP:0012261)	3.52809833
17	Cone-rod dystrophy (HP:0000548)	3.38137299
18	Chronic hepatic failure (HP:0100626)	3.35242570
19	Abnormality of the fovea (HP:0000493)	3.33306663
20	Dyschromatopsia (HP:0007641)	3.25636923
21	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.15568675
22	Unsteady gait (HP:0002317)	3.12047699
23	Ependymoma (HP:0002888)	3.10754015
24	Aplasia/Hypoplasia of the macula (HP:0008059)	3.09839848
25	Impulsivity (HP:0100710)	2.94294756
26	Split foot (HP:0001839)	2.94166154
27	Abnormal ciliary motility (HP:0012262)	2.89973862
28	Cerebral hypomyelination (HP:0006808)	2.81973866
29	Septo-optic dysplasia (HP:0100842)	2.81047911
30	Limb dystonia (HP:0002451)	2.78594294
31	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.70235615
32	Pendular nystagmus (HP:0012043)	2.66213284
33	Choroideremia (HP:0001139)	2.53164452
34	Subcapsular cataract (HP:0000523)	2.48381949
35	Photophobia (HP:0000613)	2.48088511
36	Posterior subcapsular cataract (HP:0007787)	2.46632056
37	Breast hypoplasia (HP:0003187)	2.45292799
38	CNS hypomyelination (HP:0003429)	2.43761085
39	Infertility (HP:0000789)	2.42833366
40	Decreased central vision (HP:0007663)	2.41457503
41	Molar tooth sign on MRI (HP:0002419)	2.36451190
42	Abnormality of midbrain morphology (HP:0002418)	2.36451190
43	Poor coordination (HP:0002370)	2.35631831
44	Medial flaring of the eyebrow (HP:0010747)	2.34418553
45	Abnormality of the astrocytes (HP:0100707)	2.23281127
46	Astrocytoma (HP:0009592)	2.23281127
47	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.18009127
48	Type II diabetes mellitus (HP:0005978)	2.17107475
49	Gait imbalance (HP:0002141)	2.15594376
50	Retinitis pigmentosa (HP:0000510)	2.09459608
51	Progressive external ophthalmoplegia (HP:0000590)	2.07665944
52	Rhinitis (HP:0012384)	2.04637137
53	3-Methylglutaconic aciduria (HP:0003535)	2.04537766
54	Spastic paraparesis (HP:0002313)	2.04064600
55	Progressive inability to walk (HP:0002505)	2.02131946
56	Progressive microcephaly (HP:0000253)	2.00688981
57	Abnormal spermatogenesis (HP:0008669)	1.99043648
58	Vertebral clefting (HP:0008428)	1.99000499
59	Chorioretinal atrophy (HP:0000533)	1.98811127
60	Congenital primary aphakia (HP:0007707)	1.95715513
61	Degeneration of anterior horn cells (HP:0002398)	1.95161416
62	Abnormality of the anterior horn cell (HP:0006802)	1.95161416
63	Nephronophthisis (HP:0000090)	1.95130901
64	Failure to thrive in infancy (HP:0001531)	1.94996365
65	Albinism (HP:0001022)	1.94789396
66	Ureteral duplication (HP:0000073)	1.94720488
67	Constricted visual fields (HP:0001133)	1.90688326
68	Nephrogenic diabetes insipidus (HP:0009806)	1.90395915
69	Congenital sensorineural hearing impairment (HP:0008527)	1.89372982
70	Pigmentary retinal degeneration (HP:0001146)	1.89285614
71	Absent hand (HP:0004050)	1.86142352
72	Submucous cleft hard palate (HP:0000176)	1.84071881
73	Chronic bronchitis (HP:0004469)	1.83985809
74	Oligodactyly (hands) (HP:0001180)	1.83858353
75	Abnormal number of incisors (HP:0011064)	1.82294315
76	Epileptic encephalopathy (HP:0200134)	1.82010875
77	Inability to walk (HP:0002540)	1.79132489
78	Abnormality of the septum pellucidum (HP:0007375)	1.78745207
79	Growth hormone deficiency (HP:0000824)	1.78255217
80	Fetal akinesia sequence (HP:0001989)	1.77552965
81	Intellectual disability, moderate (HP:0002342)	1.76983999
82	Shoulder girdle muscle weakness (HP:0003547)	1.73962604
83	Abnormality of abdominal situs (HP:0011620)	1.71155904
84	Abdominal situs inversus (HP:0003363)	1.71155904
85	Congenital malformation of the right heart (HP:0011723)	1.70675137
86	Double outlet right ventricle (HP:0001719)	1.70675137
87	Abnormality of the lower motor neuron (HP:0002366)	1.70546156
88	Supernumerary spleens (HP:0009799)	1.67157966
89	Oral leukoplakia (HP:0002745)	1.65927107
90	Rimmed vacuoles (HP:0003805)	1.65053332
91	Heterotopia (HP:0002282)	1.64653210
92	Facial cleft (HP:0002006)	1.64249677
93	Ileus (HP:0002595)	1.63403916
94	Chorioretinal coloboma (HP:0000567)	1.63281927
95	Ventricular fibrillation (HP:0001663)	1.60220442
96	Morphological abnormality of the pyramidal tract (HP:0002062)	1.56825812
97	Abnormality of the labia minora (HP:0012880)	1.55517050
98	External ophthalmoplegia (HP:0000544)	1.55511044
99	Glioma (HP:0009733)	1.54728271
100	Absent septum pellucidum (HP:0001331)	1.53478960

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MARK1	3.64031068
2	TYRO3	3.56164916
3	PDK3	3.25710813
4	PDK4	3.25710813
5	EPHA3	3.03860531
6	NEK1	3.00360367
7	BUB1	2.73255948
8	EPHA2	2.60820403
9	PBK	2.60335566
10	TTK	2.53398842
11	NEK2	2.47054058
12	SGK2	2.31998958
13	SGK494	2.27583548
14	SGK223	2.27583548
15	PDK2	2.23254953
16	PTK2B	1.99072895
17	PRKD3	1.98379002
18	DYRK2	1.83080114
19	PAK6	1.73544919
20	WEE1	1.70064406
21	YES1	1.66448422
22	BRSK2	1.65062151
23	DAPK2	1.63451565
24	SGK3	1.63442242
25	ICK	1.63318147
26	PNCK	1.59930191
27	STK39	1.54995006
28	PINK1	1.44947383
29	CDK8	1.43119656
30	NTRK2	1.38470946
31	STK38	1.36704760
32	PLK1	1.36404400
33	AKT3	1.31635619
34	BMPR1B	1.21101788
35	TESK1	1.20114087
36	MAP2K7	1.13103645
37	MAP3K4	1.12043468
38	NME1	1.11200738
39	GRK1	1.10947458
40	BRAF	0.98844030
41	CHEK2	0.92389907
42	WNK4	0.89752717
43	AURKA	0.88365761
44	FGFR4	0.84792991
45	PKN1	0.84054275
46	EIF2AK2	0.83745290
47	NME2	0.80349779
48	RPS6KB2	0.73815635
49	ERBB4	0.73732199
50	SCYL2	0.73235936
51	DYRK3	0.68677384
52	CCNB1	0.65909779
53	PLK3	0.65401975
54	MAP3K6	0.64668594
55	MARK3	0.59622004
56	CDK3	0.58077226
57	TNK2	0.57690471
58	CHEK1	0.57476278
59	BRSK1	0.57459547
60	ALK	0.56774450
61	FGFR2	0.56383477
62	PAK1	0.56010573
63	RPS6KA2	0.55685294
64	EIF2AK1	0.54087444
65	FES	0.53322812
66	PHKG1	0.52728879
67	PHKG2	0.52728879
68	SRPK1	0.52127897
69	RPS6KB1	0.48872962
70	STK16	0.47988516
71	PRKCG	0.45701262
72	RPS6KA4	0.45379043
73	CDK1	0.44557157
74	CDK7	0.43641036
75	AURKB	0.41861960
76	CASK	0.41530923
77	UHMK1	0.40263678
78	LATS2	0.40103128
79	GSK3A	0.39083243
80	ATR	0.39028211
81	ATM	0.37058335
82	ROCK2	0.36131090
83	CDK14	0.35226494
84	ZAK	0.33412529
85	CDK15	0.32620737
86	CDK2	0.31866345
87	CSNK2A1	0.29367946
88	CAMKK2	0.28871447
89	DAPK3	0.28094910
90	MAPK7	0.27809882
91	CSNK1E	0.27173015
92	RPS6KC1	0.26057759
93	RPS6KL1	0.26057759
94	RPS6KA1	0.25239719
95	PAK4	0.25206045
96	CDK18	0.25202173
97	RPS6KA5	0.25112860
98	MAP3K9	0.23917730
99	CDK4	0.23148399
100	CSNK1G3	0.21563516

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	4.63721431
2	Vitamin B6 metabolism_Homo sapiens_hsa00750	4.53567329
3	Nicotine addiction_Homo sapiens_hsa05033	2.93103654
4	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.74554111
5	RNA transport_Homo sapiens_hsa03013	2.70047987
6	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.21882517
7	Proteasome_Homo sapiens_hsa03050	1.99354343
8	Spliceosome_Homo sapiens_hsa03040	1.85688126
9	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.85254147
10	One carbon pool by folate_Homo sapiens_hsa00670	1.82564289
11	Fanconi anemia pathway_Homo sapiens_hsa03460	1.77328322
12	GABAergic synapse_Homo sapiens_hsa04727	1.72543096
13	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.58915654
14	RNA polymerase_Homo sapiens_hsa03020	1.57998312
15	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.55248420
16	Mismatch repair_Homo sapiens_hsa03430	1.54804121
17	Cardiac muscle contraction_Homo sapiens_hsa04260	1.47784406
18	Cell cycle_Homo sapiens_hsa04110	1.47327155
19	Oocyte meiosis_Homo sapiens_hsa04114	1.46385043
20	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.45253135
21	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.43314987
22	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.35745433
23	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.35559055
24	Pentose phosphate pathway_Homo sapiens_hsa00030	1.33772592
25	Retinol metabolism_Homo sapiens_hsa00830	1.33212286
26	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.29488335
27	Circadian rhythm_Homo sapiens_hsa04710	1.28717334
28	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.25695077
29	Taste transduction_Homo sapiens_hsa04742	1.24047793
30	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.21368167
31	Endocytosis_Homo sapiens_hsa04144	1.17240868
32	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.17127185
33	Ether lipid metabolism_Homo sapiens_hsa00565	1.16313391
34	Collecting duct acid secretion_Homo sapiens_hsa04966	1.15041059
35	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.13023243
36	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	1.11595598
37	DNA replication_Homo sapiens_hsa03030	1.10595898
38	mRNA surveillance pathway_Homo sapiens_hsa03015	1.08949037
39	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.04058981
40	Pyrimidine metabolism_Homo sapiens_hsa00240	1.02739938
41	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.00167280
42	Morphine addiction_Homo sapiens_hsa05032	0.99195582
43	Pyruvate metabolism_Homo sapiens_hsa00620	0.98455199
44	Purine metabolism_Homo sapiens_hsa00230	0.96941714
45	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.96619144
46	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.95034662
47	Serotonergic synapse_Homo sapiens_hsa04726	0.94953783
48	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.94869386
49	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.93305532
50	Homologous recombination_Homo sapiens_hsa03440	0.92405926
51	Huntingtons disease_Homo sapiens_hsa05016	0.92107035
52	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.86928709
53	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.84551307
54	Linoleic acid metabolism_Homo sapiens_hsa00591	0.83434841
55	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.81194902
56	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.79170320
57	Amphetamine addiction_Homo sapiens_hsa05031	0.76822391
58	Regulation of autophagy_Homo sapiens_hsa04140	0.76637330
59	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.76073380
60	Hippo signaling pathway_Homo sapiens_hsa04390	0.75950134
61	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.75895415
62	Insulin secretion_Homo sapiens_hsa04911	0.75104786
63	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.74101389
64	Ribosome_Homo sapiens_hsa03010	0.73351649
65	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.72277230
66	Glycerolipid metabolism_Homo sapiens_hsa00561	0.71873708
67	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.70028364
68	Renal cell carcinoma_Homo sapiens_hsa05211	0.69062668
69	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.68371348
70	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.67677102
71	Tight junction_Homo sapiens_hsa04530	0.66422002
72	Cholinergic synapse_Homo sapiens_hsa04725	0.66001929
73	Histidine metabolism_Homo sapiens_hsa00340	0.64461393
74	Carbon metabolism_Homo sapiens_hsa01200	0.63313566
75	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.60950328
76	Mineral absorption_Homo sapiens_hsa04978	0.60196438
77	Fatty acid elongation_Homo sapiens_hsa00062	0.59583067
78	Glutamatergic synapse_Homo sapiens_hsa04724	0.57738443
79	Fatty acid metabolism_Homo sapiens_hsa01212	0.55884799
80	Choline metabolism in cancer_Homo sapiens_hsa05231	0.53081434
81	Circadian entrainment_Homo sapiens_hsa04713	0.50874382
82	Glutathione metabolism_Homo sapiens_hsa00480	0.50840016
83	Arginine and proline metabolism_Homo sapiens_hsa00330	0.50792142
84	beta-Alanine metabolism_Homo sapiens_hsa00410	0.50541404
85	Phenylalanine metabolism_Homo sapiens_hsa00360	0.50023581
86	Sphingolipid metabolism_Homo sapiens_hsa00600	0.47517601
87	Renin secretion_Homo sapiens_hsa04924	0.46543834
88	Basal transcription factors_Homo sapiens_hsa03022	0.46339157
89	Selenocompound metabolism_Homo sapiens_hsa00450	0.45692596
90	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.43824940
91	Metabolic pathways_Homo sapiens_hsa01100	0.42455882
92	Basal cell carcinoma_Homo sapiens_hsa05217	0.41756945
93	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.41064904
94	Parkinsons disease_Homo sapiens_hsa05012	0.41057867
95	Calcium signaling pathway_Homo sapiens_hsa04020	0.40577586
96	Nucleotide excision repair_Homo sapiens_hsa03420	0.39825677
97	Base excision repair_Homo sapiens_hsa03410	0.37979347
98	Dopaminergic synapse_Homo sapiens_hsa04728	0.37536296
99	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.37135911
100	Butanoate metabolism_Homo sapiens_hsa00650	0.36266745

PRSS38

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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