ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	motile cilium assembly (GO:0044458)	8.52457809
2	axoneme assembly (GO:0035082)	7.34866866
3	regulation of cilium movement (GO:0003352)	6.58490911
4	left/right pattern formation (GO:0060972)	6.10266636
5	intraciliary transport (GO:0042073)	6.08736077
6	microtubule bundle formation (GO:0001578)	5.09720023
7	centriole assembly (GO:0098534)	5.02471995
8	cilium organization (GO:0044782)	5.01056190
9	left/right axis specification (GO:0070986)	4.90872832
10	cilium assembly (GO:0042384)	4.87679977
11	centriole replication (GO:0007099)	4.82170878
12	ventricular system development (GO:0021591)	4.70591321
13	primary alcohol catabolic process (GO:0034310)	4.26301234
14	vitamin transmembrane transport (GO:0035461)	4.05080130
15	cilium morphogenesis (GO:0060271)	4.03122834
16	regulation of microtubule-based movement (GO:0060632)	4.00934416
17	microtubule-based movement (GO:0007018)	3.91087166
18	lung epithelium development (GO:0060428)	3.81488353
19	intra-S DNA damage checkpoint (GO:0031573)	3.79224909
20	cellular component assembly involved in morphogenesis (GO:0010927)	3.77535637
21	nonmotile primary cilium assembly (GO:0035058)	3.64452748
22	microtubule depolymerization (GO:0007019)	3.59196427
23	retinal rod cell development (GO:0046548)	3.58486400
24	protein localization to cilium (GO:0061512)	3.57816172
25	establishment of monopolar cell polarity (GO:0061162)	3.43521997
26	establishment or maintenance of monopolar cell polarity (GO:0061339)	3.43521997
27	response to misfolded protein (GO:0051788)	3.32430057
28	cell projection assembly (GO:0030031)	3.32019141
29	photoreceptor cell maintenance (GO:0045494)	3.26323380
30	ethanol metabolic process (GO:0006067)	3.24123474
31	histone H2A acetylation (GO:0043968)	3.19477104
32	microtubule polymerization or depolymerization (GO:0031109)	3.13227560
33	aldehyde catabolic process (GO:0046185)	3.11885067
34	nucleoside diphosphate phosphorylation (GO:0006165)	3.10105252
35	regulation of collateral sprouting (GO:0048670)	3.06927833
36	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	3.05334350
37	lateral ventricle development (GO:0021670)	3.03162453
38	microtubule severing (GO:0051013)	3.02901855
39	protein polyglutamylation (GO:0018095)	2.95546283
40	regulation of microtubule depolymerization (GO:0031114)	2.91873671
41	DNA integration (GO:0015074)	2.88067899
42	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.79023949
43	sperm motility (GO:0030317)	2.77180916
44	establishment of apical/basal cell polarity (GO:0035089)	2.75522370
45	negative regulation of T cell differentiation in thymus (GO:0033085)	2.72354781
46	microtubule-based process (GO:0007017)	2.67066121
47	positive regulation of smoothened signaling pathway (GO:0045880)	2.64129733
48	negative regulation of microtubule depolymerization (GO:0007026)	2.59878367
49	terpenoid biosynthetic process (GO:0016114)	2.59508328
50	organelle assembly (GO:0070925)	2.59491956
51	sperm capacitation (GO:0048240)	2.59135767
52	smoothened signaling pathway (GO:0007224)	2.56847042
53	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.55008311
54	mismatch repair (GO:0006298)	2.51508728
55	GTP biosynthetic process (GO:0006183)	2.49881651
56	regulation of helicase activity (GO:0051095)	2.47356105
57	cytoplasmic microtubule organization (GO:0031122)	2.44108328
58	neurotransmitter catabolic process (GO:0042135)	2.41307386
59	ubiquinone biosynthetic process (GO:0006744)	2.41221545
60	hydrogen peroxide catabolic process (GO:0042744)	2.41018737
61	determination of left/right symmetry (GO:0007368)	2.40361052
62	diterpenoid biosynthetic process (GO:0016102)	2.39850704
63	glutathione derivative metabolic process (GO:1901685)	2.38376591
64	glutathione derivative biosynthetic process (GO:1901687)	2.38376591
65	ubiquinone metabolic process (GO:0006743)	2.37635682
66	one-carbon compound transport (GO:0019755)	2.35916246
67	retinal cone cell development (GO:0046549)	2.34645284
68	determination of bilateral symmetry (GO:0009855)	2.34063469
69	DNA double-strand break processing (GO:0000729)	2.33940569
70	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.33445117
71	specification of symmetry (GO:0009799)	2.30699769
72	pyrimidine nucleotide catabolic process (GO:0006244)	2.29759570
73	seminiferous tubule development (GO:0072520)	2.26762116
74	UTP metabolic process (GO:0046051)	2.23939310
75	nucleotide phosphorylation (GO:0046939)	2.23008801
76	spermatid development (GO:0007286)	2.22162778
77	mRNA splice site selection (GO:0006376)	2.21072080
78	oxidative phosphorylation (GO:0006119)	2.21062108
79	ethanol oxidation (GO:0006069)	2.20909540
80	multicellular organismal aging (GO:0010259)	2.19104046
81	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.18837843
82	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.18837843
83	protein insertion into membrane (GO:0051205)	2.18283272
84	pyrimidine nucleobase catabolic process (GO:0006208)	2.16769251
85	UTP biosynthetic process (GO:0006228)	2.16729705
86	response to xenobiotic stimulus (GO:0009410)	2.16712548
87	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2.15413898
88	retinoic acid metabolic process (GO:0042573)	2.15182737
89	positive regulation of cell size (GO:0045793)	2.15036693
90	establishment of mitochondrion localization (GO:0051654)	2.11356845
91	GPI anchor biosynthetic process (GO:0006506)	2.11205678
92	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	2.10805536
93	mitochondrion transport along microtubule (GO:0047497)	2.10805536
94	limb development (GO:0060173)	2.10166230
95	appendage development (GO:0048736)	2.10166230
96	axonemal dynein complex assembly (GO:0070286)	13.5370335
97	cilium or flagellum-dependent cell motility (GO:0001539)	11.2051174
98	cilium movement (GO:0003341)	10.8283776
99	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	10.3333697
100	epithelial cilium movement (GO:0003351)	10.2058880

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.99854824
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.38567402
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.36729757
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.31110600
5	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	3.17083207
6	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.44279731
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.40621997
8	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.36529035
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.31641527
10	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.22275483
11	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.18800048
12	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.18698314
13	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.07760786
14	VDR_22108803_ChIP-Seq_LS180_Human	2.05406043
15	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.04560826
16	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.00530581
17	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.97952332
18	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.94083807
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.88916971
20	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.84514732
21	GABP_19822575_ChIP-Seq_HepG2_Human	1.82321786
22	IGF1R_20145208_ChIP-Seq_DFB_Human	1.81232760
23	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.80896056
24	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.77988609
25	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.70761835
26	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.63700097
27	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.63247881
28	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.60071482
29	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.58829018
30	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.52873793
31	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.52115847
32	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.51857752
33	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.49017838
34	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.47253622
35	EWS_26573619_Chip-Seq_HEK293_Human	1.47095623
36	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44730305
37	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.44626185
38	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.44395712
39	XRN2_22483619_ChIP-Seq_HELA_Human	1.41711401
40	MYC_18940864_ChIP-ChIP_HL60_Human	1.41683224
41	* YY1_22570637_ChIP-Seq_MALME-3M_Human	1.41423081
42	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.39630658
43	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.36540418
44	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.30630880
45	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.30057141
46	DCP1A_22483619_ChIP-Seq_HELA_Human	1.28494306
47	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.26887469
48	DROSHA_22980978_ChIP-Seq_HELA_Human	1.26483518
49	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.22107226
50	TTF2_22483619_ChIP-Seq_HELA_Human	1.21198486
51	* FOXP3_21729870_ChIP-Seq_TREG_Human	1.20330418
52	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.19454266
53	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.19126397
54	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.19092009
55	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.18416764
56	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.17575592
57	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.17126643
58	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.15431227
59	STAT1_20625510_ChIP-Seq_HELA_Human	1.15304662
60	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.14570012
61	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.12992615
62	AR_21909140_ChIP-Seq_LNCAP_Human	1.11004290
63	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.10531079
64	VDR_23849224_ChIP-Seq_CD4+_Human	1.09617425
65	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.08256175
66	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.08180602
67	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.06557513
68	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.05818859
69	PHF8_20622854_ChIP-Seq_HELA_Human	1.04824723
70	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.04394152
71	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.03416268
72	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.02199950
73	FUS_26573619_Chip-Seq_HEK293_Human	1.02046329
74	RNF2_27304074_Chip-Seq_NSC_Mouse	0.98916368
75	ERA_21632823_ChIP-Seq_H3396_Human	0.98606495
76	NCOR_22424771_ChIP-Seq_293T_Human	0.96028719
77	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.93973971
78	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.93803951
79	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.92529987
80	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.92338830
81	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.91355052
82	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.90571976
83	AR_20517297_ChIP-Seq_VCAP_Human	0.88844482
84	P68_20966046_ChIP-Seq_HELA_Human	0.87645475
85	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	0.86271480
86	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.85948143
87	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.85948143
88	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.85681347
89	ELK1_19687146_ChIP-ChIP_HELA_Human	0.83479124
90	KDM5A_27292631_Chip-Seq_BREAST_Human	0.80609490
91	* SOX2_16153702_ChIP-ChIP_HESCs_Human	0.79712927
92	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.77961692
93	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.77701681
94	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.76977401
95	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	0.76848177
96	SOX3_22085726_ChIP-Seq_NPCs_Mouse	0.76321260
97	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.76235380
98	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.76110395
99	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.74691413
100	CTBP2_25329375_ChIP-Seq_LNCAP_Human	0.71953580

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	5.57422441
2	MP0008789_abnormal_olfactory_epithelium	3.59773902
3	MP0000566_synostosis	3.28766257
4	MP0005394_taste/olfaction_phenotype	3.22603061
5	MP0005499_abnormal_olfactory_system	3.22603061
6	MP0004133_heterotaxia	2.90403957
7	MP0002132_abnormal_respiratory_system	2.84982151
8	MP0008877_abnormal_DNA_methylation	2.82238567
9	MP0006292_abnormal_olfactory_placode	2.79212520
10	MP0001984_abnormal_olfaction	2.78694177
11	MP0008875_abnormal_xenobiotic_pharmacok	2.51167999
12	MP0001293_anophthalmia	2.18129490
13	MP0006276_abnormal_autonomic_nervous	2.09704982
14	MP0003718_maternal_effect	2.04941080
15	MP0002822_catalepsy	1.99699401
16	MP0004043_abnormal_pH_regulation	1.93610823
17	MP0006072_abnormal_retinal_apoptosis	1.84718864
18	MP0001529_abnormal_vocalization	1.77014658
19	MP0010030_abnormal_orbit_morphology	1.76080272
20	MP0002282_abnormal_trachea_morphology	1.74657100
21	MP0003890_abnormal_embryonic-extraembry	1.73835860
22	MP0002233_abnormal_nose_morphology	1.62095592
23	MP0008058_abnormal_DNA_repair	1.59972806
24	MP0003122_maternal_imprinting	1.55959438
25	MP0001299_abnormal_eye_distance/	1.55604385
26	MP0002751_abnormal_autonomic_nervous	1.45602500
27	MP0000049_abnormal_middle_ear	1.42299304
28	MP0005253_abnormal_eye_physiology	1.38800907
29	MP0003121_genomic_imprinting	1.35288104
30	MP0003119_abnormal_digestive_system	1.33750081
31	MP0008995_early_reproductive_senescence	1.31423846
32	MP0005083_abnormal_biliary_tract	1.30929970
33	MP0003136_yellow_coat_color	1.30317849
34	MP0001348_abnormal_lacrimal_gland	1.30125186
35	MP0002277_abnormal_respiratory_mucosa	1.27555612
36	MP0002102_abnormal_ear_morphology	1.27130493
37	MP0001929_abnormal_gametogenesis	1.26748968
38	MP0003283_abnormal_digestive_organ	1.25933917
39	MP0002092_abnormal_eye_morphology	1.24844291
40	MP0003938_abnormal_ear_development	1.21302870
41	MP0005391_vision/eye_phenotype	1.18729394
42	MP0003693_abnormal_embryo_hatching	1.18317870
43	MP0000026_abnormal_inner_ear	1.17203114
44	MP0000778_abnormal_nervous_system	1.14708700
45	MP0003698_abnormal_male_reproductive	1.10406827
46	MP0003787_abnormal_imprinting	1.08603697
47	MP0002557_abnormal_social/conspecific_i	1.08357918
48	MP0002249_abnormal_larynx_morphology	1.05977177
49	MP0002938_white_spotting	1.05761529
50	MP0000631_abnormal_neuroendocrine_gland	1.05005734
51	MP0003861_abnormal_nervous_system	1.04120450
52	MP0006036_abnormal_mitochondrial_physio	1.03650762
53	MP0005551_abnormal_eye_electrophysiolog	1.03271310
54	MP0001145_abnormal_male_reproductive	1.02870032
55	MP0001486_abnormal_startle_reflex	1.01873382
56	MP0002735_abnormal_chemical_nociception	1.01386462
57	MP0002160_abnormal_reproductive_system	0.99767931
58	MP0000653_abnormal_sex_gland	0.99220586
59	MP0003878_abnormal_ear_physiology	0.99051897
60	MP0005377_hearing/vestibular/ear_phenot	0.99051897
61	MP0002210_abnormal_sex_determination	0.98872079
62	MP0002234_abnormal_pharynx_morphology	0.98311959
63	MP0002752_abnormal_somatic_nervous	0.97380208
64	MP0003937_abnormal_limbs/digits/tail_de	0.96695537
65	MP0001485_abnormal_pinna_reflex	0.96297220
66	MP0001286_abnormal_eye_development	0.95680918
67	MP0005220_abnormal_exocrine_pancreas	0.92987832
68	MP0008057_abnormal_DNA_replication	0.92916333
69	MP0010094_abnormal_chromosome_stability	0.90663328
70	MP0004742_abnormal_vestibular_system	0.89251215
71	MP0003567_abnormal_fetal_cardiomyocyte	0.88495092
72	MP0001545_abnormal_hematopoietic_system	0.87687816
73	MP0005397_hematopoietic_system_phenotyp	0.87687816
74	MP0000383_abnormal_hair_follicle	0.86627140
75	MP0008932_abnormal_embryonic_tissue	0.85535160
76	MP0002734_abnormal_mechanical_nocicepti	0.84465135
77	MP0003186_abnormal_redox_activity	0.84260022
78	MP0005195_abnormal_posterior_eye	0.83411364
79	MP0003111_abnormal_nucleus_morphology	0.83156550
80	MP0004147_increased_porphyrin_level	0.82595944
81	MP0009703_decreased_birth_body	0.82084846
82	MP0000955_abnormal_spinal_cord	0.81979547
83	MP0002638_abnormal_pupillary_reflex	0.81865046
84	MP0009780_abnormal_chondrocyte_physiolo	0.81627029
85	MP0006035_abnormal_mitochondrial_morpho	0.81322741
86	MP0005395_other_phenotype	0.80787010
87	MP0002111_abnormal_tail_morphology	0.79011492
88	MP0002084_abnormal_developmental_patter	0.78699855
89	MP0003942_abnormal_urinary_system	0.78459956
90	MP0002116_abnormal_craniofacial_bone	0.78118741
91	MP0002152_abnormal_brain_morphology	0.77447435
92	MP0002161_abnormal_fertility/fecundity	0.74469626
93	MP0001963_abnormal_hearing_physiology	0.73933271
94	MP0000358_abnormal_cell_content/	0.73299470
95	MP0002085_abnormal_embryonic_tissue	0.73106746
96	MP0002882_abnormal_neuron_morphology	0.72360664
97	MP0003077_abnormal_cell_cycle	0.71084156
98	MP0002572_abnormal_emotion/affect_behav	0.69909918
99	MP0009046_muscle_twitch	0.68446949
100	MP0005623_abnormal_meninges_morphology	0.68015994

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal respiratory motile cilium morphology (HP:0005938)	9.00214501
2	Abnormal respiratory epithelium morphology (HP:0012253)	9.00214501
3	Abnormal respiratory motile cilium physiology (HP:0012261)	8.83230357
4	Absent/shortened dynein arms (HP:0200106)	8.60651785
5	Dynein arm defect of respiratory motile cilia (HP:0012255)	8.60651785
6	Abnormal ciliary motility (HP:0012262)	8.58212210
7	Rhinitis (HP:0012384)	7.98260820
8	Chronic bronchitis (HP:0004469)	6.34379039
9	Bronchiectasis (HP:0002110)	5.37791330
10	Pancreatic fibrosis (HP:0100732)	4.61697484
11	Nasal polyposis (HP:0100582)	4.26341518
12	True hermaphroditism (HP:0010459)	4.17291573
13	Occipital encephalocele (HP:0002085)	4.04793964
14	Molar tooth sign on MRI (HP:0002419)	3.68221538
15	Abnormality of midbrain morphology (HP:0002418)	3.68221538
16	Pancreatic cysts (HP:0001737)	3.49728649
17	Male infertility (HP:0003251)	3.48100911
18	Infertility (HP:0000789)	3.47708514
19	Nephronophthisis (HP:0000090)	3.43732296
20	Abnormality of the nasal mucosa (HP:0000433)	3.30354226
21	Recurrent sinusitis (HP:0011108)	3.30061079
22	Cystic liver disease (HP:0006706)	3.18882100
23	Postaxial foot polydactyly (HP:0001830)	3.11858604
24	Medial flaring of the eyebrow (HP:0010747)	3.04215991
25	Degeneration of anterior horn cells (HP:0002398)	2.88650843
26	Abnormality of the anterior horn cell (HP:0006802)	2.88650843
27	Chronic sinusitis (HP:0011109)	2.84667378
28	Chronic hepatic failure (HP:0100626)	2.82440034
29	Bronchitis (HP:0012387)	2.82322930
30	Gait imbalance (HP:0002141)	2.81018312
31	Congenital primary aphakia (HP:0007707)	2.78011404
32	Recurrent otitis media (HP:0000403)	2.77409373
33	Abnormality of the renal medulla (HP:0100957)	2.66421676
34	Anencephaly (HP:0002323)	2.52867588
35	Tubulointerstitial nephritis (HP:0001970)	2.52411138
36	Supernumerary spleens (HP:0009799)	2.51108755
37	Congenital hepatic fibrosis (HP:0002612)	2.49596737
38	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.48915194
39	Sclerocornea (HP:0000647)	2.48575326
40	Atelectasis (HP:0100750)	2.48233998
41	Nephrogenic diabetes insipidus (HP:0009806)	2.44814683
42	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.39678239
43	Preaxial hand polydactyly (HP:0001177)	2.33228863
44	Asplenia (HP:0001746)	2.32696337
45	Postaxial hand polydactyly (HP:0001162)	2.32506496
46	Male pseudohermaphroditism (HP:0000037)	2.27253776
47	Oculomotor apraxia (HP:0000657)	2.19339106
48	Abnormality of the lower motor neuron (HP:0002366)	2.18316753
49	Vaginal atresia (HP:0000148)	2.13823690
50	Amyotrophic lateral sclerosis (HP:0007354)	2.11881178
51	Chronic otitis media (HP:0000389)	2.10537488
52	Genital tract atresia (HP:0001827)	2.09333593
53	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	10.1823024
54	Bile duct proliferation (HP:0001408)	1.94754491
55	Abnormal biliary tract physiology (HP:0012439)	1.94754491
56	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.94634441
57	Poor coordination (HP:0002370)	1.89777764
58	Hyperactive renin-angiotensin system (HP:0000841)	1.88445255
59	Aganglionic megacolon (HP:0002251)	1.81350687
60	Median cleft lip (HP:0000161)	1.81181022
61	Tubular atrophy (HP:0000092)	1.78316822
62	Hyperglycinemia (HP:0002154)	1.72243491
63	Anophthalmia (HP:0000528)	1.70793928
64	Multicystic kidney dysplasia (HP:0000003)	1.69845423
65	Decreased central vision (HP:0007663)	1.68326199
66	Retinitis pigmentosa (HP:0000510)	1.63388904
67	Optic nerve coloboma (HP:0000588)	1.60575315
68	Holoprosencephaly (HP:0001360)	1.57022431
69	Nephropathy (HP:0000112)	1.55181003
70	Abnormality of abdominal situs (HP:0011620)	1.52801631
71	Abdominal situs inversus (HP:0003363)	1.52801631
72	Broad foot (HP:0001769)	1.52381559
73	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.52234423
74	Prominent nasal bridge (HP:0000426)	1.51883545
75	Narrow forehead (HP:0000341)	1.45956581
76	Bifid scrotum (HP:0000048)	1.45832062
77	Intestinal atresia (HP:0011100)	1.44457864
78	Tubulointerstitial abnormality (HP:0001969)	1.40506250
79	Polydipsia (HP:0001959)	1.39720780
80	Abnormal drinking behavior (HP:0030082)	1.39720780
81	Decreased testicular size (HP:0008734)	1.39383544
82	Stage 5 chronic kidney disease (HP:0003774)	1.38333229
83	Facial cleft (HP:0002006)	1.35015576
84	Furrowed tongue (HP:0000221)	1.34521713
85	Abnormality of macular pigmentation (HP:0008002)	1.34243241
86	Abnormality of the renal cortex (HP:0011035)	1.34002066
87	Abnormality of the labia minora (HP:0012880)	1.33003466
88	Abnormal lung lobation (HP:0002101)	1.32950617
89	Intellectual disability, moderate (HP:0002342)	1.31277674
90	Hand muscle atrophy (HP:0009130)	1.31162639
91	Aplasia/Hypoplasia of the lens (HP:0008063)	1.29765851
92	Chorioretinal coloboma (HP:0000567)	1.26271351
93	Specific learning disability (HP:0001328)	1.24715850
94	Dandy-Walker malformation (HP:0001305)	1.24553732
95	Bell-shaped thorax (HP:0001591)	1.23782559
96	Renal salt wasting (HP:0000127)	1.23451062
97	Renal hypoplasia (HP:0000089)	1.22715129
98	Highly arched eyebrow (HP:0002553)	1.22670065
99	Abnormal rod and cone electroretinograms (HP:0008323)	1.21882823
100	Abolished electroretinogram (ERG) (HP:0000550)	1.20366385

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	7.40552857
2	BCR	3.53835856
3	MST4	3.08222661
4	VRK2	3.06110864
5	PBK	2.32611618
6	PNCK	2.23282090
7	SRPK1	2.21673102
8	PINK1	2.13054598
9	TTK	1.96458588
10	DYRK3	1.91974274
11	NME1	1.83296663
12	MAP3K4	1.74356026
13	DYRK2	1.69352635
14	PLK4	1.68440811
15	MAP4K2	1.67543590
16	VRK1	1.57329478
17	CSNK1G3	1.53416126
18	EPHA2	1.53339641
19	CSNK1G2	1.52077594
20	CSNK1G1	1.51372466
21	CSNK1A1L	1.51078386
22	CCNB1	1.48942952
23	TNIK	1.35032131
24	NUAK1	1.33579958
25	BCKDK	1.33552888
26	TRIM28	1.29522910
27	NEK2	1.29460778
28	MAP2K7	1.29382131
29	AURKA	1.27807316
30	WNK3	1.19535990
31	WEE1	1.19066746
32	STK16	1.18956608
33	PLK3	1.15031436
34	PLK1	1.14142268
35	TESK1	1.10020254
36	PRKCI	1.07567635
37	CHEK2	1.07463262
38	ERBB3	1.06300447
39	MINK1	1.05650498
40	FLT3	1.05496805
41	CDK9	1.05454525
42	CDC7	1.05397453
43	MAPKAPK3	1.03024718
44	PAK3	1.01924866
45	MAPK13	1.01461666
46	MATK	0.97494941
47	PLK2	0.95718995
48	ATR	0.87710398
49	PTK2B	0.84048887
50	MKNK1	0.83040860
51	EPHB2	0.80599006
52	GRK1	0.79689630
53	SMG1	0.78034820
54	DYRK1A	0.76554620
55	TAF1	0.75800321
56	MAP3K11	0.74524968
57	ZAK	0.74471712
58	EPHA3	0.73364998
59	ADRBK2	0.71829331
60	CDK6	0.69930563
61	BMPR1B	0.69811893
62	PKN2	0.68536771
63	PDK2	0.65799540
64	LRRK2	0.64511432
65	EPHA4	0.61728079
66	ERBB2	0.60560173
67	PIM2	0.58659818
68	CDK19	0.57879978
69	LMTK2	0.56064615
70	ATM	0.55941825
71	INSRR	0.55472748
72	CDK4	0.55208530
73	WNK4	0.54647180
74	CDK7	0.53521664
75	PAK1	0.53168106
76	CDK8	0.52815873
77	CSNK1E	0.52635247
78	EIF2AK1	0.51758436
79	TSSK6	0.49654557
80	DYRK1B	0.48464224
81	NEK1	0.46138112
82	BRSK2	0.45852956
83	CSNK1A1	0.45318361
84	RPS6KA4	0.44254183
85	CSNK2A1	0.42710284
86	CDK1	0.41381056
87	MAP3K10	0.41203247
88	MAP3K7	0.40823205
89	CDK2	0.38918758
90	CSNK2A2	0.38819721
91	CDK14	0.38545465
92	BRSK1	0.38527745
93	PRKDC	0.37763490
94	AURKB	0.37725697
95	CHEK1	0.37102204
96	MARK1	0.36995630
97	DMPK	0.33082511
98	MAPKAPK5	0.32373099
99	MAP2K4	0.32265780
100	CASK	0.32139728

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.80251069
2	Huntingtons disease_Homo sapiens_hsa05016	2.80017000
3	Non-homologous end-joining_Homo sapiens_hsa03450	2.48169189
4	Steroid biosynthesis_Homo sapiens_hsa00100	2.32463749
5	Base excision repair_Homo sapiens_hsa03410	2.29294003
6	Glutathione metabolism_Homo sapiens_hsa00480	2.26561514
7	Protein export_Homo sapiens_hsa03060	2.25461820
8	Chemical carcinogenesis_Homo sapiens_hsa05204	2.25293869
9	Phenylalanine metabolism_Homo sapiens_hsa00360	2.21215055
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.20152803
11	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.15427252
12	Mismatch repair_Homo sapiens_hsa03430	2.05811202
13	Tyrosine metabolism_Homo sapiens_hsa00350	2.01607610
14	Homologous recombination_Homo sapiens_hsa03440	1.99631857
15	Histidine metabolism_Homo sapiens_hsa00340	1.80509121
16	Peroxisome_Homo sapiens_hsa04146	1.75708140
17	Oxidative phosphorylation_Homo sapiens_hsa00190	1.71689851
18	Fatty acid elongation_Homo sapiens_hsa00062	1.71225355
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.68671544
20	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.68119437
21	Basal transcription factors_Homo sapiens_hsa03022	1.67310485
22	Parkinsons disease_Homo sapiens_hsa05012	1.64599917
23	RNA polymerase_Homo sapiens_hsa03020	1.62329405
24	Propanoate metabolism_Homo sapiens_hsa00640	1.59776501
25	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.56545364
26	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.56097109
27	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.56096005
28	Spliceosome_Homo sapiens_hsa03040	1.53369326
29	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.52374953
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.48429980
31	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.45720481
32	Phototransduction_Homo sapiens_hsa04744	1.42906408
33	beta-Alanine metabolism_Homo sapiens_hsa00410	1.38346940
34	DNA replication_Homo sapiens_hsa03030	1.38152236
35	Nucleotide excision repair_Homo sapiens_hsa03420	1.34598425
36	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.31240621
37	Pyruvate metabolism_Homo sapiens_hsa00620	1.21430114
38	Fatty acid metabolism_Homo sapiens_hsa01212	1.20754591
39	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.14742874
40	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.10431003
41	Pyrimidine metabolism_Homo sapiens_hsa00240	1.04555984
42	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.02516712
43	RNA transport_Homo sapiens_hsa03013	1.02218393
44	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.01772725
45	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.01590375
46	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.00973462
47	Purine metabolism_Homo sapiens_hsa00230	1.00611319
48	Ribosome_Homo sapiens_hsa03010	1.00320998
49	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.00204020
50	RNA degradation_Homo sapiens_hsa03018	0.99069013
51	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.95704360
52	Basal cell carcinoma_Homo sapiens_hsa05217	0.93869424
53	Retinol metabolism_Homo sapiens_hsa00830	0.93440612
54	Fatty acid degradation_Homo sapiens_hsa00071	0.92312598
55	Caffeine metabolism_Homo sapiens_hsa00232	0.91226136
56	Metabolic pathways_Homo sapiens_hsa01100	0.88216470
57	Cell cycle_Homo sapiens_hsa04110	0.83871007
58	Cardiac muscle contraction_Homo sapiens_hsa04260	0.83050367
59	Carbon metabolism_Homo sapiens_hsa01200	0.82615993
60	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.82160164
61	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.80307952
62	mRNA surveillance pathway_Homo sapiens_hsa03015	0.78847967
63	Arginine and proline metabolism_Homo sapiens_hsa00330	0.77008944
64	Proteasome_Homo sapiens_hsa03050	0.76412427
65	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.76150812
66	Notch signaling pathway_Homo sapiens_hsa04330	0.75859750
67	Butanoate metabolism_Homo sapiens_hsa00650	0.74660518
68	Alzheimers disease_Homo sapiens_hsa05010	0.74597154
69	Collecting duct acid secretion_Homo sapiens_hsa04966	0.73208482
70	Nicotine addiction_Homo sapiens_hsa05033	0.71166766
71	Oocyte meiosis_Homo sapiens_hsa04114	0.70151541
72	Sulfur relay system_Homo sapiens_hsa04122	0.68856320
73	Linoleic acid metabolism_Homo sapiens_hsa00591	0.68100985
74	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.64632905
75	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.63480485
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.62947901
77	Olfactory transduction_Homo sapiens_hsa04740	0.61808599
78	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.60586906
79	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.58157389
80	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.57037884
81	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.56301183
82	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.56030458
83	Regulation of autophagy_Homo sapiens_hsa04140	0.52325288
84	Taste transduction_Homo sapiens_hsa04742	0.52209860
85	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.51408708
86	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.50509590
87	Hippo signaling pathway_Homo sapiens_hsa04390	0.49627878
88	Axon guidance_Homo sapiens_hsa04360	0.46001498
89	Tight junction_Homo sapiens_hsa04530	0.45099310
90	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.44421757
91	Selenocompound metabolism_Homo sapiens_hsa00450	0.44089446
92	Sphingolipid metabolism_Homo sapiens_hsa00600	0.44034615
93	Cocaine addiction_Homo sapiens_hsa05030	0.43526273
94	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.43522351
95	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.42557425
96	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.40774733
97	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.40024168
98	ABC transporters_Homo sapiens_hsa02010	0.38909155
99	Lysine degradation_Homo sapiens_hsa00310	0.38181717
100	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.36380085

C20ORF96

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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