ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	5.56509140
2	epithelial cilium movement (GO:0003351)	4.47253756
3	synapsis (GO:0007129)	4.33495830
4	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.17117976
5	axonemal dynein complex assembly (GO:0070286)	4.10056195
6	behavioral response to nicotine (GO:0035095)	4.06679366
7	cilium movement (GO:0003341)	4.04980984
8	DNA methylation involved in gamete generation (GO:0043046)	3.86794455
9	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.76678836
10	sperm motility (GO:0030317)	3.61074409
11	regulation of cilium movement (GO:0003352)	3.59652833
12	protein polyglutamylation (GO:0018095)	3.59640687
13	cilium or flagellum-dependent cell motility (GO:0001539)	3.59594352
14	male meiosis (GO:0007140)	3.52933345
15	response to pheromone (GO:0019236)	3.48951426
16	male meiosis I (GO:0007141)	3.42882312
17	resolution of meiotic recombination intermediates (GO:0000712)	3.42437704
18	behavioral response to ethanol (GO:0048149)	3.42276092
19	chromosome organization involved in meiosis (GO:0070192)	3.41106237
20	regulation of acrosome reaction (GO:0060046)	3.37258689
21	regulation of meiosis I (GO:0060631)	3.36675992
22	acrosome reaction (GO:0007340)	3.34485463
23	cellular ketone body metabolic process (GO:0046950)	3.32515343
24	motile cilium assembly (GO:0044458)	3.31701760
25	multicellular organism reproduction (GO:0032504)	3.27311521
26	meiotic chromosome segregation (GO:0045132)	3.21294128
27	fucose catabolic process (GO:0019317)	3.17175576
28	L-fucose metabolic process (GO:0042354)	3.17175576
29	L-fucose catabolic process (GO:0042355)	3.17175576
30	spermatid development (GO:0007286)	3.14900976
31	replication fork processing (GO:0031297)	3.11873647
32	microtubule depolymerization (GO:0007019)	3.02355170
33	protein localization to cilium (GO:0061512)	3.01910980
34	cilium morphogenesis (GO:0060271)	3.01829482
35	axoneme assembly (GO:0035082)	2.97829935
36	intraciliary transport (GO:0042073)	2.97162070
37	reciprocal meiotic recombination (GO:0007131)	2.97157835
38	reciprocal DNA recombination (GO:0035825)	2.97157835
39	cilium organization (GO:0044782)	2.93156175
40	proteasome assembly (GO:0043248)	2.92374904
41	ketone body metabolic process (GO:1902224)	2.92325161
42	cilium assembly (GO:0042384)	2.86578325
43	single strand break repair (GO:0000012)	2.86286806
44	DNA double-strand break processing (GO:0000729)	2.86251141
45	detection of light stimulus involved in visual perception (GO:0050908)	2.86118989
46	detection of light stimulus involved in sensory perception (GO:0050962)	2.86118989
47	meiosis I (GO:0007127)	2.84808379
48	photoreceptor cell maintenance (GO:0045494)	2.84316004
49	adult feeding behavior (GO:0008343)	2.82426953
50	protein K6-linked ubiquitination (GO:0085020)	2.81904042
51	sperm-egg recognition (GO:0035036)	2.81429163
52	nonmotile primary cilium assembly (GO:0035058)	2.77283396
53	regulation of microtubule-based movement (GO:0060632)	2.75351593
54	left/right axis specification (GO:0070986)	2.74362367
55	preassembly of GPI anchor in ER membrane (GO:0016254)	2.70697053
56	centriole replication (GO:0007099)	2.70647737
57	recombinational repair (GO:0000725)	2.69030909
58	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.67513965
59	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.67513965
60	double-strand break repair via homologous recombination (GO:0000724)	2.67163879
61	ncRNA catabolic process (GO:0034661)	2.64911613
62	protein complex biogenesis (GO:0070271)	2.64469362
63	somite rostral/caudal axis specification (GO:0032525)	2.63027163
64	microtubule polymerization or depolymerization (GO:0031109)	2.61528835
65	peptidyl-histidine modification (GO:0018202)	2.60317954
66	mitochondrial respiratory chain complex assembly (GO:0033108)	2.60199020
67	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.58755579
68	meiotic nuclear division (GO:0007126)	2.58319565
69	retinal cone cell development (GO:0046549)	2.57903665
70	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.55707765
71	respiratory chain complex IV assembly (GO:0008535)	2.55278849
72	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.54919100
73	meiotic cell cycle (GO:0051321)	2.54568871
74	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.54213560
75	meiotic cell cycle process (GO:1903046)	2.53302236
76	cornea development in camera-type eye (GO:0061303)	2.48540463
77	water-soluble vitamin biosynthetic process (GO:0042364)	2.46294785
78	regulation of hexokinase activity (GO:1903299)	2.46221623
79	regulation of glucokinase activity (GO:0033131)	2.46221623
80	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.44536965
81	mannosylation (GO:0097502)	2.44026124
82	rRNA catabolic process (GO:0016075)	2.43957961
83	indolalkylamine metabolic process (GO:0006586)	2.43166265
84	positive regulation of meiosis (GO:0045836)	2.41703544
85	positive regulation of cAMP-mediated signaling (GO:0043950)	2.40459559
86	tryptophan catabolic process (GO:0006569)	2.40116081
87	indole-containing compound catabolic process (GO:0042436)	2.40116081
88	indolalkylamine catabolic process (GO:0046218)	2.40116081
89	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.39599599
90	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.39123609
91	regulation of mesoderm development (GO:2000380)	2.39000674
92	platelet dense granule organization (GO:0060155)	2.36983109
93	centriole assembly (GO:0098534)	2.36438555
94	rRNA modification (GO:0000154)	2.36281808
95	DNA replication-dependent nucleosome assembly (GO:0006335)	2.35687841
96	DNA replication-dependent nucleosome organization (GO:0034723)	2.35687841
97	regulation of DNA endoreduplication (GO:0032875)	2.35557353
98	synaptonemal complex assembly (GO:0007130)	2.35518028
99	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.33535993
100	NADH dehydrogenase complex assembly (GO:0010257)	2.33535993

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.42807502
2	VDR_22108803_ChIP-Seq_LS180_Human	3.34252020
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.64535056
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.61747733
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.46207569
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.42450428
7	* FUS_26573619_Chip-Seq_HEK293_Human	2.35612221
8	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.34250925
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.27193083
10	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.24861780
11	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.24067113
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.22145440
13	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.18993344
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.15389313
15	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.13187640
16	EWS_26573619_Chip-Seq_HEK293_Human	2.04918897
17	IGF1R_20145208_ChIP-Seq_DFB_Human	1.97699619
18	P300_19829295_ChIP-Seq_ESCs_Human	1.97138864
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.96052061
20	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.94542338
21	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.87262483
22	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.85436358
23	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.85002230
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.76875310
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.72080576
26	EZH2_22144423_ChIP-Seq_EOC_Human	1.65274160
27	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.62538005
28	IRF1_19129219_ChIP-ChIP_H3396_Human	1.61786351
29	* CBP_20019798_ChIP-Seq_JUKART_Human	1.60712458
30	* IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.60712458
31	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.57934072
32	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56263604
33	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.55727307
34	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.55727307
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54152097
36	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.52934051
37	MYC_18940864_ChIP-ChIP_HL60_Human	1.50723200
38	TP53_22573176_ChIP-Seq_HFKS_Human	1.49371986
39	SMAD4_21799915_ChIP-Seq_A2780_Human	1.49231125
40	* STAT3_23295773_ChIP-Seq_U87_Human	1.49092428
41	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.47301382
42	* BCAT_22108803_ChIP-Seq_LS180_Human	1.46001394
43	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.44640277
44	AR_25329375_ChIP-Seq_VCAP_Human	1.44119276
45	ELK1_19687146_ChIP-ChIP_HELA_Human	1.40889860
46	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39769835
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39769835
48	* TCF4_23295773_ChIP-Seq_U87_Human	1.38184847
49	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36968184
50	RNF2_27304074_Chip-Seq_NSC_Mouse	1.36381541
51	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.33035743
52	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.32321124
53	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.31599788
54	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.30414263
55	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.30119111
56	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.27781849
57	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.27757112
58	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.26826474
59	* SMAD3_21741376_ChIP-Seq_EPCs_Human	1.24514389
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.23990407
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.23026452
62	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.22206743
63	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.22206743
64	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.18510773
65	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.17302277
66	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.16649266
67	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.16602140
68	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.15681347
69	AR_20517297_ChIP-Seq_VCAP_Human	1.15391452
70	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.15161378
71	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.14275113
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.13742892
73	* NCOR_22424771_ChIP-Seq_293T_Human	1.13315583
74	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.12348187
75	ETV1_20927104_ChIP-Seq_GIST48_Human	1.11167756
76	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.10525769
77	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.10230321
78	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.09730459
79	VDR_23849224_ChIP-Seq_CD4+_Human	1.08930662
80	PHF8_20622853_ChIP-Seq_HELA_Human	1.08269598
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.07510767
82	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.06731248
83	NFYB_21822215_ChIP-Seq_K562_Human	1.05067610
84	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05011734
85	CDX2_22108803_ChIP-Seq_LS180_Human	1.03056510
86	TBL1_22424771_ChIP-Seq_293T_Human	1.02284550
87	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.02158218
88	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.01804417
89	HTT_18923047_ChIP-ChIP_STHdh_Human	1.01785676
90	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.01374692
91	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00909427
92	RBPJ_21746931_ChIP-Seq_IB4_Human	0.99461886
93	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.99220169
94	* PRDM14_20953172_ChIP-Seq_ESCs_Human	0.98911472
95	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.97919376
96	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.97769023
97	HOXB7_26014856_ChIP-Seq_BT474_Human	0.97506536
98	REST_21632747_ChIP-Seq_MESCs_Mouse	0.95942144
99	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.95684053
100	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.93929507

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.45880097
2	MP0006292_abnormal_olfactory_placode	2.36931296
3	MP0005410_abnormal_fertilization	2.27427832
4	MP0005551_abnormal_eye_electrophysiolog	2.22201874
5	MP0003136_yellow_coat_color	2.20749917
6	MP0003718_maternal_effect	2.18639650
7	MP0003195_calcinosis	2.17110725
8	MP0008058_abnormal_DNA_repair	2.08802770
9	MP0002653_abnormal_ependyma_morphology	2.08439643
10	MP0002876_abnormal_thyroid_physiology	2.07219344
11	MP0008995_early_reproductive_senescence	2.04300680
12	MP0001968_abnormal_touch/_nociception	1.94765671
13	MP0003880_abnormal_central_pattern	1.90938828
14	MP0001929_abnormal_gametogenesis	1.80378667
15	MP0006072_abnormal_retinal_apoptosis	1.77274897
16	MP0003698_abnormal_male_reproductive	1.71518222
17	MP0000569_abnormal_digit_pigmentation	1.69910644
18	MP0002160_abnormal_reproductive_system	1.64582313
19	MP0002210_abnormal_sex_determination	1.64493544
20	MP0005646_abnormal_pituitary_gland	1.62677110
21	MP0002102_abnormal_ear_morphology	1.57578521
22	MP0010386_abnormal_urinary_bladder	1.54684209
23	MP0003787_abnormal_imprinting	1.53449033
24	MP0005423_abnormal_somatic_nervous	1.53022961
25	MP0005645_abnormal_hypothalamus_physiol	1.52833353
26	MP0005253_abnormal_eye_physiology	1.50430989
27	MP0008875_abnormal_xenobiotic_pharmacok	1.50416792
28	MP0009046_muscle_twitch	1.48185825
29	MP0001984_abnormal_olfaction	1.47294134
30	MP0002638_abnormal_pupillary_reflex	1.47291522
31	MP0002735_abnormal_chemical_nociception	1.42476187
32	MP0008872_abnormal_physiological_respon	1.41879204
33	MP0003646_muscle_fatigue	1.41180378
34	MP0009745_abnormal_behavioral_response	1.39270049
35	MP0002736_abnormal_nociception_after	1.38763095
36	MP0003119_abnormal_digestive_system	1.38485842
37	MP0008789_abnormal_olfactory_epithelium	1.37228019
38	MP0000427_abnormal_hair_cycle	1.37159961
39	MP0003950_abnormal_plasma_membrane	1.36046408
40	MP0005377_hearing/vestibular/ear_phenot	1.35163636
41	MP0003878_abnormal_ear_physiology	1.35163636
42	MP0003890_abnormal_embryonic-extraembry	1.33305368
43	MP0005360_urolithiasis	1.33007207
44	MP0001145_abnormal_male_reproductive	1.32840269
45	MP0000383_abnormal_hair_follicle	1.32465812
46	MP0001485_abnormal_pinna_reflex	1.32189852
47	MP0001486_abnormal_startle_reflex	1.30692897
48	MP0002234_abnormal_pharynx_morphology	1.30512991
49	MP0000653_abnormal_sex_gland	1.30192059
50	MP0000631_abnormal_neuroendocrine_gland	1.30107231
51	MP0003693_abnormal_embryo_hatching	1.29493451
52	MP0004043_abnormal_pH_regulation	1.29087844
53	MP0002272_abnormal_nervous_system	1.28963416
54	MP0003937_abnormal_limbs/digits/tail_de	1.26035925
55	MP0002938_white_spotting	1.25433038
56	MP0006276_abnormal_autonomic_nervous	1.25192366
57	MP0005389_reproductive_system_phenotype	1.24061725
58	MP0009780_abnormal_chondrocyte_physiolo	1.17833033
59	MP0008004_abnormal_stomach_pH	1.17432648
60	MP0004742_abnormal_vestibular_system	1.15716025
61	MP0004133_heterotaxia	1.14858610
62	MP0003315_abnormal_perineum_morphology	1.10247505
63	MP0010094_abnormal_chromosome_stability	1.10193290
64	MP0003786_premature_aging	1.09922677
65	MP0002184_abnormal_innervation	1.08488239
66	MP0002557_abnormal_social/conspecific_i	1.05114380
67	MP0000647_abnormal_sebaceous_gland	1.04920413
68	MP0008057_abnormal_DNA_replication	1.04418279
69	MP0001970_abnormal_pain_threshold	1.02264950
70	MP0002837_dystrophic_cardiac_calcinosis	1.01489901
71	MP0004147_increased_porphyrin_level	1.00186155
72	MP0002928_abnormal_bile_duct	0.98465950
73	MP0005195_abnormal_posterior_eye	0.97215173
74	MP0005174_abnormal_tail_pigmentation	0.95867810
75	MP0001529_abnormal_vocalization	0.94993942
76	MP0006035_abnormal_mitochondrial_morpho	0.93834009
77	MP0004215_abnormal_myocardial_fiber	0.93184196
78	MP0001501_abnormal_sleep_pattern	0.93057600
79	MP0000026_abnormal_inner_ear	0.92817515
80	MP0010678_abnormal_skin_adnexa	0.92647244
81	MP0009697_abnormal_copulation	0.92440445
82	MP0002752_abnormal_somatic_nervous	0.92095137
83	MP0003121_genomic_imprinting	0.90461007
84	MP0001963_abnormal_hearing_physiology	0.89702124
85	MP0005394_taste/olfaction_phenotype	0.89617074
86	MP0005499_abnormal_olfactory_system	0.89617074
87	MP0005187_abnormal_penis_morphology	0.89421481
88	MP0002161_abnormal_fertility/fecundity	0.88673788
89	MP0002229_neurodegeneration	0.86599764
90	MP0005395_other_phenotype	0.86212373
91	MP0000778_abnormal_nervous_system	0.85713942
92	MP0003941_abnormal_skin_development	0.84993721
93	MP0004142_abnormal_muscle_tone	0.84842789
94	MP0002572_abnormal_emotion/affect_behav	0.84608529
95	MP0003011_delayed_dark_adaptation	0.84040318
96	MP0002733_abnormal_thermal_nociception	0.82027194
97	MP0001293_anophthalmia	0.81946750
98	MP0002163_abnormal_gland_morphology	0.80924497
99	MP0002751_abnormal_autonomic_nervous	0.78412519
100	MP0001764_abnormal_homeostasis	0.77136535

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.01091599
2	Absent/shortened dynein arms (HP:0200106)	4.01091599
3	Pancreatic cysts (HP:0001737)	3.80747596
4	Abnormality of midbrain morphology (HP:0002418)	3.77348912
5	Molar tooth sign on MRI (HP:0002419)	3.77348912
6	True hermaphroditism (HP:0010459)	3.69529199
7	Pancreatic fibrosis (HP:0100732)	3.58592218
8	Abnormal respiratory epithelium morphology (HP:0012253)	3.55529101
9	Abnormal respiratory motile cilium morphology (HP:0005938)	3.55529101
10	Abnormal ciliary motility (HP:0012262)	3.54431095
11	Abnormal respiratory motile cilium physiology (HP:0012261)	3.43458941
12	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.41591004
13	Nephronophthisis (HP:0000090)	3.22573197
14	Type II lissencephaly (HP:0007260)	3.13082401
15	Congenital stationary night blindness (HP:0007642)	3.06390228
16	Medial flaring of the eyebrow (HP:0010747)	3.00065310
17	Rhinitis (HP:0012384)	2.99935272
18	Chronic hepatic failure (HP:0100626)	2.84947277
19	Abnormality of the renal medulla (HP:0100957)	2.81701832
20	Abnormality of the renal cortex (HP:0011035)	2.80830498
21	Cerebellar dysplasia (HP:0007033)	2.80692980
22	Attenuation of retinal blood vessels (HP:0007843)	2.80541715
23	Abnormal rod and cone electroretinograms (HP:0008323)	2.78887124
24	Thyroid-stimulating hormone excess (HP:0002925)	2.71835650
25	Tubular atrophy (HP:0000092)	2.70947328
26	Intestinal atresia (HP:0011100)	2.70717473
27	Volvulus (HP:0002580)	2.66087909
28	Pendular nystagmus (HP:0012043)	2.55125768
29	Large for gestational age (HP:0001520)	2.47472301
30	Gait imbalance (HP:0002141)	2.47459613
31	Congenital primary aphakia (HP:0007707)	2.46851804
32	Cystic liver disease (HP:0006706)	2.44721402
33	Abnormality of macular pigmentation (HP:0008002)	2.43660347
34	Severe visual impairment (HP:0001141)	2.42939939
35	Sclerocornea (HP:0000647)	2.41991429
36	Male pseudohermaphroditism (HP:0000037)	2.34802977
37	Abnormality of the ileum (HP:0001549)	2.31493374
38	Abolished electroretinogram (ERG) (HP:0000550)	2.29436322
39	3-Methylglutaconic aciduria (HP:0003535)	2.22796797
40	Lissencephaly (HP:0001339)	2.22445508
41	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.20619908
42	Optic nerve hypoplasia (HP:0000609)	2.20429709
43	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.20421080
44	Nephrogenic diabetes insipidus (HP:0009806)	2.20379226
45	Progressive inability to walk (HP:0002505)	2.19552243
46	Gaze-evoked nystagmus (HP:0000640)	2.17343954
47	Chronic bronchitis (HP:0004469)	2.16810131
48	Bony spicule pigmentary retinopathy (HP:0007737)	2.14619231
49	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.13260542
50	Abnormality of alanine metabolism (HP:0010916)	2.13260542
51	Hyperalaninemia (HP:0003348)	2.13260542
52	Inability to walk (HP:0002540)	2.11775036
53	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.10804071
54	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.09806562
55	Acute necrotizing encephalopathy (HP:0006965)	2.09134219
56	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.08040954
57	Anencephaly (HP:0002323)	2.07915533
58	Hypoplasia of the pons (HP:0012110)	2.07639823
59	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.07443886
60	Hypoplasia of the fovea (HP:0007750)	2.07443886
61	Genital tract atresia (HP:0001827)	2.06479118
62	Polydipsia (HP:0001959)	2.06091151
63	Abnormal drinking behavior (HP:0030082)	2.06091151
64	Occipital encephalocele (HP:0002085)	2.04130044
65	Vaginal atresia (HP:0000148)	2.04087473
66	Increased CSF lactate (HP:0002490)	2.03492581
67	Decreased central vision (HP:0007663)	2.03338229
68	Abnormality of the pons (HP:0007361)	2.02702417
69	Chromsome breakage (HP:0040012)	2.00352892
70	Gastrointestinal atresia (HP:0002589)	1.98936471
71	Bile duct proliferation (HP:0001408)	1.96750011
72	Abnormal biliary tract physiology (HP:0012439)	1.96750011
73	Acute encephalopathy (HP:0006846)	1.95563980
74	Oligodactyly (hands) (HP:0001180)	1.94063198
75	Meckel diverticulum (HP:0002245)	1.93601087
76	Renal cortical cysts (HP:0000803)	1.93246425
77	Aplasia/hypoplasia of the uterus (HP:0008684)	1.92565184
78	Furrowed tongue (HP:0000221)	1.89188712
79	Stomach cancer (HP:0012126)	1.87863681
80	Retinal dysplasia (HP:0007973)	1.86363640
81	Abnormality of the fovea (HP:0000493)	1.85189731
82	Congenital hepatic fibrosis (HP:0002612)	1.83931978
83	Central scotoma (HP:0000603)	1.83012696
84	Broad-based gait (HP:0002136)	1.81477768
85	Tubulointerstitial nephritis (HP:0001970)	1.81372470
86	Mitochondrial inheritance (HP:0001427)	1.81348949
87	Abnormal mitochondria in muscle tissue (HP:0008316)	1.81099486
88	Bronchiectasis (HP:0002110)	1.81082220
89	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.78623580
90	Poor coordination (HP:0002370)	1.75294374
91	Polyuria (HP:0000103)	1.74594411
92	Preaxial hand polydactyly (HP:0001177)	1.74013401
93	Postaxial foot polydactyly (HP:0001830)	1.73716167
94	Hyperventilation (HP:0002883)	1.73714265
95	Progressive macrocephaly (HP:0004481)	1.72684420
96	Astigmatism (HP:0000483)	1.70173418
97	Small hand (HP:0200055)	1.69043832
98	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.66220200
99	Dandy-Walker malformation (HP:0001305)	1.65625480
100	Increased corneal curvature (HP:0100692)	1.65390417

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.16191877
2	ADRBK2	3.62494498
3	PNCK	3.22366507
4	ZAK	2.93462680
5	BMPR1B	2.91003048
6	PINK1	2.67478798
7	WNK3	2.46484285
8	TNIK	2.46068397
9	ACVR1B	2.36998876
10	MST4	2.16114107
11	CASK	2.11325214
12	MAP4K2	2.03200392
13	GRK1	2.02854349
14	TRIM28	1.95895255
15	WNK4	1.91322957
16	PLK4	1.86455444
17	INSRR	1.76571514
18	MAP3K4	1.69985343
19	NUAK1	1.63220513
20	PBK	1.59920746
21	STK39	1.53383127
22	TAOK3	1.51147943
23	STK38L	1.47976982
24	EIF2AK3	1.43763252
25	WEE1	1.40498338
26	TLK1	1.36994131
27	MAP2K7	1.33994110
28	MUSK	1.33344353
29	MKNK2	1.31457380
30	OXSR1	1.25676176
31	BCR	1.25250266
32	TGFBR1	1.22768831
33	BRSK2	1.22235582
34	CAMK1G	1.20972649
35	MAPK13	1.12514349
36	ADRBK1	1.11201933
37	PLK2	1.06382612
38	VRK1	1.06238105
39	PRKCE	1.04765541
40	PRKCG	1.04673406
41	TSSK6	1.00759267
42	PLK1	0.96791679
43	MAPK15	0.93056107
44	PASK	0.90789561
45	BUB1	0.89896268
46	DYRK3	0.89620105
47	PLK3	0.87764703
48	TTK	0.86335150
49	SRPK1	0.85064699
50	MAP3K12	0.81684223
51	MARK1	0.80125512
52	NLK	0.79541104
53	DYRK2	0.79517354
54	NEK2	0.79361165
55	NEK1	0.75036639
56	MKNK1	0.73927171
57	PTK2B	0.73387838
58	PRKCI	0.72520063
59	MET	0.70224640
60	CSNK1G1	0.69298581
61	CAMK1D	0.68982235
62	BRD4	0.68640729
63	VRK2	0.66459850
64	AKT3	0.65996030
65	STK3	0.65818075
66	CSNK1G2	0.62032357
67	STK38	0.60571121
68	PAK3	0.59551889
69	ATR	0.58246823
70	CHEK2	0.55127209
71	NME1	0.53304143
72	PHKG2	0.52602487
73	PHKG1	0.52602487
74	LIMK1	0.52397462
75	ATM	0.50167659
76	CSNK1G3	0.50116366
77	CAMK2A	0.50043477
78	ERBB3	0.48526339
79	CDC7	0.43301270
80	STK16	0.42135502
81	CCNB1	0.41505811
82	CSNK1E	0.41200680
83	TXK	0.40936950
84	NTRK3	0.40594997
85	CSNK1A1L	0.40209706
86	AURKA	0.38610064
87	BRSK1	0.37656204
88	DAPK2	0.37496584
89	PRKACA	0.36184031
90	MAP2K1	0.35984351
91	DYRK1A	0.35980686
92	EPHA4	0.34075389
93	MAP2K2	0.33049642
94	EIF2AK1	0.32032820
95	TAF1	0.30528248
96	FLT3	0.28351540
97	WNK1	0.27418798
98	PKN1	0.27223333
99	CDK19	0.27080066
100	RPS6KA5	0.26962637

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.66183930
2	Phototransduction_Homo sapiens_hsa04744	2.43401005
3	Homologous recombination_Homo sapiens_hsa03440	2.41301267
4	Fanconi anemia pathway_Homo sapiens_hsa03460	2.25404459
5	Protein export_Homo sapiens_hsa03060	2.24156077
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.22548703
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.22051637
8	Butanoate metabolism_Homo sapiens_hsa00650	2.16687775
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.13896579
10	Oxidative phosphorylation_Homo sapiens_hsa00190	2.12340135
11	Basal transcription factors_Homo sapiens_hsa03022	2.00473522
12	Parkinsons disease_Homo sapiens_hsa05012	1.89089808
13	RNA polymerase_Homo sapiens_hsa03020	1.86630597
14	Proteasome_Homo sapiens_hsa03050	1.79520140
15	Selenocompound metabolism_Homo sapiens_hsa00450	1.77689892
16	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.75502413
17	Linoleic acid metabolism_Homo sapiens_hsa00591	1.73309888
18	Huntingtons disease_Homo sapiens_hsa05016	1.70044113
19	Propanoate metabolism_Homo sapiens_hsa00640	1.69959856
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.64005830
21	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.59554617
22	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.55637982
23	Olfactory transduction_Homo sapiens_hsa04740	1.55020044
24	RNA degradation_Homo sapiens_hsa03018	1.54927402
25	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.50752799
26	Nicotine addiction_Homo sapiens_hsa05033	1.48637686
27	Mismatch repair_Homo sapiens_hsa03430	1.46164504
28	One carbon pool by folate_Homo sapiens_hsa00670	1.45467249
29	Nitrogen metabolism_Homo sapiens_hsa00910	1.43678038
30	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.43564590
31	Taste transduction_Homo sapiens_hsa04742	1.40950481
32	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.39618237
33	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.29834877
34	Non-homologous end-joining_Homo sapiens_hsa03450	1.29510298
35	Nucleotide excision repair_Homo sapiens_hsa03420	1.26583981
36	RNA transport_Homo sapiens_hsa03013	1.24679883
37	Ether lipid metabolism_Homo sapiens_hsa00565	1.23348544
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.23165820
39	Retinol metabolism_Homo sapiens_hsa00830	1.19385415
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.14684773
41	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.13494331
42	Chemical carcinogenesis_Homo sapiens_hsa05204	1.13263630
43	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.13047213
44	Peroxisome_Homo sapiens_hsa04146	1.12735451
45	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.11684236
46	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.11217369
47	Alzheimers disease_Homo sapiens_hsa05010	1.09571950
48	Tryptophan metabolism_Homo sapiens_hsa00380	1.09434789
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.04628566
50	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.03775486
51	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.03543625
52	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.02149799
53	Purine metabolism_Homo sapiens_hsa00230	1.00745800
54	Steroid biosynthesis_Homo sapiens_hsa00100	1.00619634
55	Base excision repair_Homo sapiens_hsa03410	0.99625286
56	Pyrimidine metabolism_Homo sapiens_hsa00240	0.98230993
57	Cardiac muscle contraction_Homo sapiens_hsa04260	0.95666163
58	Morphine addiction_Homo sapiens_hsa05032	0.91947227
59	beta-Alanine metabolism_Homo sapiens_hsa00410	0.91893767
60	Metabolic pathways_Homo sapiens_hsa01100	0.86818273
61	Serotonergic synapse_Homo sapiens_hsa04726	0.82574951
62	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.80148205
63	DNA replication_Homo sapiens_hsa03030	0.79970580
64	Ribosome_Homo sapiens_hsa03010	0.79439052
65	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.79215740
66	Pyruvate metabolism_Homo sapiens_hsa00620	0.78518892
67	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.76454144
68	Regulation of autophagy_Homo sapiens_hsa04140	0.75732285
69	Caffeine metabolism_Homo sapiens_hsa00232	0.75409151
70	Insulin secretion_Homo sapiens_hsa04911	0.74814405
71	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.67867934
72	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66597028
73	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.65411387
74	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.64927925
75	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.64342619
76	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.63740652
77	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.63077613
78	ABC transporters_Homo sapiens_hsa02010	0.62844496
79	GABAergic synapse_Homo sapiens_hsa04727	0.61225550
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.60936433
81	Sulfur relay system_Homo sapiens_hsa04122	0.59435192
82	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.59309394
83	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.58593631
84	Cell cycle_Homo sapiens_hsa04110	0.58015162
85	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.57995011
86	Sphingolipid metabolism_Homo sapiens_hsa00600	0.55506544
87	Fatty acid elongation_Homo sapiens_hsa00062	0.54637419
88	Sulfur metabolism_Homo sapiens_hsa00920	0.53250433
89	Oocyte meiosis_Homo sapiens_hsa04114	0.52704747
90	Circadian entrainment_Homo sapiens_hsa04713	0.52552753
91	p53 signaling pathway_Homo sapiens_hsa04115	0.52430142
92	Spliceosome_Homo sapiens_hsa03040	0.52356933
93	Glutathione metabolism_Homo sapiens_hsa00480	0.51721001
94	Glutamatergic synapse_Homo sapiens_hsa04724	0.50722674
95	Fatty acid degradation_Homo sapiens_hsa00071	0.50244249
96	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.47822915
97	Fatty acid metabolism_Homo sapiens_hsa01212	0.46820168
98	Circadian rhythm_Homo sapiens_hsa04710	0.45483438
99	Basal cell carcinoma_Homo sapiens_hsa05217	0.45253913
100	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.43115269

C3ORF67

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)

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