ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cilium or flagellum-dependent cell motility (GO:0001539)	9.49222402
2	axonemal dynein complex assembly (GO:0070286)	8.85730978
3	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	8.16074142
4	cilium movement (GO:0003341)	8.07295578
5	epithelial cilium movement (GO:0003351)	7.47327785
6	motile cilium assembly (GO:0044458)	6.30792589
7	axoneme assembly (GO:0035082)	6.24406879
8	regulation of cilium movement (GO:0003352)	5.47267334
9	cilium organization (GO:0044782)	4.53436691
10	cilium assembly (GO:0042384)	4.42428675
11	intraciliary transport (GO:0042073)	4.23684559
12	protein localization to cilium (GO:0061512)	4.14023510
13	left/right axis specification (GO:0070986)	4.11989648
14	indolalkylamine metabolic process (GO:0006586)	3.99614065
15	cilium morphogenesis (GO:0060271)	3.98297763
16	behavioral response to nicotine (GO:0035095)	3.98135990
17	indole-containing compound catabolic process (GO:0042436)	3.89094204
18	indolalkylamine catabolic process (GO:0046218)	3.89094204
19	tryptophan catabolic process (GO:0006569)	3.89094204
20	protein polyglutamylation (GO:0018095)	3.79248479
21	photoreceptor cell maintenance (GO:0045494)	3.75613697
22	L-fucose catabolic process (GO:0042355)	3.75194393
23	fucose catabolic process (GO:0019317)	3.75194393
24	L-fucose metabolic process (GO:0042354)	3.75194393
25	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.68565487
26	sperm motility (GO:0030317)	3.66567791
27	neural tube formation (GO:0001841)	3.63401669
28	cellular ketone body metabolic process (GO:0046950)	3.58587363
29	piRNA metabolic process (GO:0034587)	3.57952638
30	left/right pattern formation (GO:0060972)	3.57919472
31	regulation of microtubule-based movement (GO:0060632)	3.53257585
32	kynurenine metabolic process (GO:0070189)	3.50641622
33	detection of light stimulus involved in visual perception (GO:0050908)	3.50122966
34	detection of light stimulus involved in sensory perception (GO:0050962)	3.50122966
35	cellular component assembly involved in morphogenesis (GO:0010927)	3.49008080
36	microtubule bundle formation (GO:0001578)	3.46334171
37	tryptophan metabolic process (GO:0006568)	3.43236560
38	multicellular organism reproduction (GO:0032504)	3.36543173
39	nonmotile primary cilium assembly (GO:0035058)	3.34903036
40	ventricular system development (GO:0021591)	3.30652633
41	ketone body metabolic process (GO:1902224)	3.29875063
42	retinal cone cell development (GO:0046549)	3.25495241
43	centriole replication (GO:0007099)	3.22465853
44	response to pheromone (GO:0019236)	3.21744662
45	DNA methylation involved in gamete generation (GO:0043046)	3.16790179
46	benzene-containing compound metabolic process (GO:0042537)	3.10828271
47	centriole assembly (GO:0098534)	2.99829328
48	cornea development in camera-type eye (GO:0061303)	2.98565601
49	amine catabolic process (GO:0009310)	2.98168125
50	cellular biogenic amine catabolic process (GO:0042402)	2.98168125
51	indole-containing compound metabolic process (GO:0042430)	2.93316803
52	DNA deamination (GO:0045006)	2.91277948
53	microtubule polymerization or depolymerization (GO:0031109)	2.90684541
54	drug catabolic process (GO:0042737)	2.89701893
55	exogenous drug catabolic process (GO:0042738)	2.87676621
56	cell projection assembly (GO:0030031)	2.80349756
57	protein K11-linked deubiquitination (GO:0035871)	2.73334680
58	rRNA catabolic process (GO:0016075)	2.70709341
59	behavioral response to ethanol (GO:0048149)	2.69548835
60	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.68861401
61	auditory receptor cell stereocilium organization (GO:0060088)	2.67105187
62	regulation of collateral sprouting (GO:0048670)	2.66998751
63	photoreceptor cell development (GO:0042461)	2.66020112
64	regulation of memory T cell differentiation (GO:0043380)	2.64922624
65	reflex (GO:0060004)	2.64242646
66	determination of left/right symmetry (GO:0007368)	2.63301945
67	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.61887146
68	platelet dense granule organization (GO:0060155)	2.57569675
69	sulfation (GO:0051923)	2.57179478
70	acrosome reaction (GO:0007340)	2.57069866
71	smoothened signaling pathway (GO:0007224)	2.56456778
72	one-carbon compound transport (GO:0019755)	2.56063833
73	establishment of protein localization to Golgi (GO:0072600)	2.55115655
74	microtubule-based movement (GO:0007018)	2.54665960
75	microtubule depolymerization (GO:0007019)	2.51934015
76	spermatid development (GO:0007286)	2.51836607
77	mannosylation (GO:0097502)	2.50934025
78	negative regulation of mast cell activation (GO:0033004)	2.49056062
79	determination of bilateral symmetry (GO:0009855)	2.47833088
80	male meiosis I (GO:0007141)	2.47226449
81	thyroid hormone metabolic process (GO:0042403)	2.46242050
82	adaptation of signaling pathway (GO:0023058)	2.45119506
83	reciprocal DNA recombination (GO:0035825)	2.43921884
84	reciprocal meiotic recombination (GO:0007131)	2.43921884
85	organic cation transport (GO:0015695)	2.43214873
86	gamma-aminobutyric acid transport (GO:0015812)	2.41747340
87	NAD biosynthetic process (GO:0009435)	2.39840657
88	transmission of nerve impulse (GO:0019226)	2.39084686
89	negative regulation of T cell differentiation in thymus (GO:0033085)	2.39024509
90	specification of symmetry (GO:0009799)	2.38908809
91	eye photoreceptor cell development (GO:0042462)	2.38586034
92	preassembly of GPI anchor in ER membrane (GO:0016254)	2.38523132
93	regulation of hippo signaling (GO:0035330)	2.38290137
94	spinal cord motor neuron differentiation (GO:0021522)	2.37786831
95	respiratory chain complex IV assembly (GO:0008535)	2.36945274
96	dopamine transport (GO:0015872)	2.36665552
97	inner ear receptor stereocilium organization (GO:0060122)	2.35931422
98	signal peptide processing (GO:0006465)	2.34071697
99	tachykinin receptor signaling pathway (GO:0007217)	2.32464081
100	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.31714598

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.51833238
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.18380185
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.14042319
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.83024337
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.73858573
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.53882676
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.36809023
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.34978836
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.32164722
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.04456253
11	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.01775694
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.01616683
13	P300_19829295_ChIP-Seq_ESCs_Human	1.98253403
14	ER_23166858_ChIP-Seq_MCF-7_Human	1.93943346
15	FUS_26573619_Chip-Seq_HEK293_Human	1.90177516
16	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.89143821
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.88552809
18	EWS_26573619_Chip-Seq_HEK293_Human	1.87629210
19	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.79662823
20	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.79153247
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.77749989
22	STAT3_23295773_ChIP-Seq_U87_Human	1.77291468
23	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.74271066
24	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73176467
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70244040
26	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.69923008
27	CBP_20019798_ChIP-Seq_JUKART_Human	1.69923008
28	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.69412654
29	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.66952475
30	BCAT_22108803_ChIP-Seq_LS180_Human	1.65733501
31	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.63612373
32	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.61404579
33	TCF4_23295773_ChIP-Seq_U87_Human	1.61214999
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.59221140
35	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.58256030
36	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.50033663
37	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.47609696
38	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.47302567
39	AR_25329375_ChIP-Seq_VCAP_Human	1.47290075
40	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.45359112
41	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.44525452
42	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.44525452
43	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.44007415
44	TCF4_22108803_ChIP-Seq_LS180_Human	1.42098165
45	DROSHA_22980978_ChIP-Seq_HELA_Human	1.41507370
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.40177645
47	IRF1_19129219_ChIP-ChIP_H3396_Human	1.38643022
48	TP53_22573176_ChIP-Seq_HFKS_Human	1.37917265
49	SOX2_19829295_ChIP-Seq_ESCs_Human	1.36457885
50	NANOG_19829295_ChIP-Seq_ESCs_Human	1.36457885
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.35336455
52	RUNX2_22187159_ChIP-Seq_PCA_Human	1.32885144
53	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.32540646
54	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.31414056
55	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.30572077
56	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.30572077
57	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.29627133
58	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.28264036
59	AR_21572438_ChIP-Seq_LNCaP_Human	1.25219529
60	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.25151764
61	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25023322
62	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.24968797
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.24453905
64	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.23043796
65	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.22960173
66	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.22099573
67	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.18834098
68	NCOR_22424771_ChIP-Seq_293T_Human	1.18193662
69	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17771791
70	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.17411485
71	REST_21632747_ChIP-Seq_MESCs_Mouse	1.14863641
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14021512
73	AR_20517297_ChIP-Seq_VCAP_Human	1.13167291
74	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.13103711
75	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.12324732
76	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.12126623
77	RNF2_27304074_Chip-Seq_NSC_Mouse	1.10616093
78	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.09415901
79	CDX2_22108803_ChIP-Seq_LS180_Human	1.08917382
80	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.08770320
81	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.08590932
82	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07607449
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.06860322
84	HOXB7_26014856_ChIP-Seq_BT474_Human	1.06775545
85	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.06323518
86	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.05115262
87	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.05010178
88	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.04600536
89	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.04090510
90	SMRT_27268052_Chip-Seq_Bcells_Human	1.02984504
91	ETV1_20927104_ChIP-Seq_GIST48_Human	1.02224229
92	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.02074638
93	TP53_16413492_ChIP-PET_HCT116_Human	1.00909125
94	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.00435885
95	MYC_19829295_ChIP-Seq_ESCs_Human	0.98409026
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.98240611
97	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.97800853
98	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.97208079
99	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.96627390
100	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.96270069

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	3.00795286
2	MP0008875_abnormal_xenobiotic_pharmacok	2.73490442
3	MP0004043_abnormal_pH_regulation	2.53146608
4	MP0001984_abnormal_olfaction	2.51839528
5	MP0005551_abnormal_eye_electrophysiolog	2.50807623
6	MP0003195_calcinosis	2.50763259
7	MP0005645_abnormal_hypothalamus_physiol	2.42193086
8	MP0000569_abnormal_digit_pigmentation	2.32088368
9	MP0002102_abnormal_ear_morphology	2.28291769
10	MP0009046_muscle_twitch	2.25891982
11	MP0003136_yellow_coat_color	2.22247889
12	MP0001968_abnormal_touch/_nociception	2.18932004
13	MP0008877_abnormal_DNA_methylation	2.12477019
14	MP0005646_abnormal_pituitary_gland	2.10551860
15	MP0006276_abnormal_autonomic_nervous	2.05356683
16	MP0002638_abnormal_pupillary_reflex	1.98325620
17	MP0005253_abnormal_eye_physiology	1.96033396
18	MP0002736_abnormal_nociception_after	1.93957917
19	MP0008872_abnormal_physiological_respon	1.88938320
20	MP0002876_abnormal_thyroid_physiology	1.83166229
21	MP0003646_muscle_fatigue	1.79098413
22	MP0001501_abnormal_sleep_pattern	1.78910013
23	MP0000383_abnormal_hair_follicle	1.77777343
24	MP0004133_heterotaxia	1.75802174
25	MP0009745_abnormal_behavioral_response	1.73908175
26	MP0003878_abnormal_ear_physiology	1.73827471
27	MP0005377_hearing/vestibular/ear_phenot	1.73827471
28	MP0001485_abnormal_pinna_reflex	1.69246123
29	MP0000372_irregular_coat_pigmentation	1.67918493
30	MP0004142_abnormal_muscle_tone	1.59342205
31	MP0001986_abnormal_taste_sensitivity	1.58713691
32	MP0006072_abnormal_retinal_apoptosis	1.58711688
33	MP0003718_maternal_effect	1.55537300
34	MP0005410_abnormal_fertilization	1.55391571
35	MP0000427_abnormal_hair_cycle	1.55193938
36	MP0008789_abnormal_olfactory_epithelium	1.50248143
37	MP0001486_abnormal_startle_reflex	1.45041640
38	MP0002272_abnormal_nervous_system	1.44061244
39	MP0006292_abnormal_olfactory_placode	1.43752414
40	MP0000631_abnormal_neuroendocrine_gland	1.39496387
41	MP0002837_dystrophic_cardiac_calcinosis	1.37984434
42	MP0003880_abnormal_central_pattern	1.36373474
43	MP0004147_increased_porphyrin_level	1.34748343
44	MP0002735_abnormal_chemical_nociception	1.33502702
45	MP0001529_abnormal_vocalization	1.32131234
46	MP0003698_abnormal_male_reproductive	1.31453132
47	MP0005174_abnormal_tail_pigmentation	1.22221721
48	MP0001929_abnormal_gametogenesis	1.22083403
49	MP0002132_abnormal_respiratory_system	1.19957138
50	MP0002572_abnormal_emotion/affect_behav	1.19041615
51	MP0008995_early_reproductive_senescence	1.18822594
52	MP0001970_abnormal_pain_threshold	1.18476087
53	MP0002160_abnormal_reproductive_system	1.15653283
54	MP0004885_abnormal_endolymph	1.15448119
55	MP0002277_abnormal_respiratory_mucosa	1.14467409
56	MP0002557_abnormal_social/conspecific_i	1.13711564
57	MP0002138_abnormal_hepatobiliary_system	1.13651884
58	MP0010386_abnormal_urinary_bladder	1.13409800
59	MP0003011_delayed_dark_adaptation	1.12268762
60	MP0003787_abnormal_imprinting	1.12067302
61	MP0005389_reproductive_system_phenotype	1.09837894
62	MP0002067_abnormal_sensory_capabilities	1.09255269
63	MP0002938_white_spotting	1.06901226
64	MP0005075_abnormal_melanosome_morpholog	1.06471760
65	MP0002064_seizures	1.06189446
66	MP0004742_abnormal_vestibular_system	1.04821662
67	MP0002095_abnormal_skin_pigmentation	1.03819296
68	MP0005084_abnormal_gallbladder_morpholo	1.02905186
69	MP0005499_abnormal_olfactory_system	1.02847202
70	MP0005394_taste/olfaction_phenotype	1.02847202
71	MP0002928_abnormal_bile_duct	1.00218100
72	MP0002229_neurodegeneration	1.00092461
73	MP0002234_abnormal_pharynx_morphology	0.99221060
74	MP0005085_abnormal_gallbladder_physiolo	0.98996009
75	MP0005386_behavior/neurological_phenoty	0.96675260
76	MP0004924_abnormal_behavior	0.96675260
77	MP0002733_abnormal_thermal_nociception	0.95974941
78	MP0005167_abnormal_blood-brain_barrier	0.95043965
79	MP0005395_other_phenotype	0.94636408
80	MP0003252_abnormal_bile_duct	0.92529150
81	MP0005195_abnormal_posterior_eye	0.92520855
82	MP0001963_abnormal_hearing_physiology	0.90193550
83	MP0010678_abnormal_skin_adnexa	0.90102744
84	MP0000230_abnormal_systemic_arterial	0.89599505
85	MP0001324_abnormal_eye_pigmentation	0.89585320
86	MP0001502_abnormal_circadian_rhythm	0.89571440
87	MP0000026_abnormal_inner_ear	0.87664209
88	MP0001905_abnormal_dopamine_level	0.87328956
89	MP0001664_abnormal_digestion	0.86082629
90	MP0002210_abnormal_sex_determination	0.85635980
91	MP0002734_abnormal_mechanical_nocicepti	0.84888626
92	MP0001764_abnormal_homeostasis	0.82291902
93	MP0005083_abnormal_biliary_tract	0.81557481
94	MP0003635_abnormal_synaptic_transmissio	0.81243991
95	MP0002168_other_aberrant_phenotype	0.79889585
96	MP0000653_abnormal_sex_gland	0.79296228
97	MP0005171_absent_coat_pigmentation	0.79240745
98	MP0002909_abnormal_adrenal_gland	0.79223605
99	MP0001765_abnormal_ion_homeostasis	0.78156313
100	MP0002752_abnormal_somatic_nervous	0.77538923

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.99132579
2	Absent/shortened dynein arms (HP:0200106)	6.96063117
3	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.96063117
4	Abnormal ciliary motility (HP:0012262)	6.79794640
5	Abnormal respiratory motile cilium morphology (HP:0005938)	6.66825104
6	Abnormal respiratory epithelium morphology (HP:0012253)	6.66825104
7	Abnormal respiratory motile cilium physiology (HP:0012261)	6.56226526
8	Rhinitis (HP:0012384)	5.74138537
9	Pancreatic cysts (HP:0001737)	4.92444651
10	Pancreatic fibrosis (HP:0100732)	4.78780183
11	True hermaphroditism (HP:0010459)	4.52273591
12	Abnormality of midbrain morphology (HP:0002418)	4.27390636
13	Molar tooth sign on MRI (HP:0002419)	4.27390636
14	Bronchiectasis (HP:0002110)	4.20446234
15	Nephronophthisis (HP:0000090)	4.13934251
16	Chronic bronchitis (HP:0004469)	4.03704774
17	Chronic hepatic failure (HP:0100626)	3.83430493
18	Abnormality of the renal medulla (HP:0100957)	3.53745208
19	Cystic liver disease (HP:0006706)	3.51512165
20	Medial flaring of the eyebrow (HP:0010747)	3.30374013
21	Abnormality of the renal cortex (HP:0011035)	3.14873311
22	Congenital stationary night blindness (HP:0007642)	3.08021223
23	Occipital encephalocele (HP:0002085)	3.04849088
24	Tubular atrophy (HP:0000092)	2.95251396
25	Attenuation of retinal blood vessels (HP:0007843)	2.75101936
26	Gait imbalance (HP:0002141)	2.75014330
27	Postaxial foot polydactyly (HP:0001830)	2.72488602
28	Congenital hepatic fibrosis (HP:0002612)	2.71385849
29	Congenital primary aphakia (HP:0007707)	2.71297179
30	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.69012379
31	Nasal polyposis (HP:0100582)	2.66397721
32	Tubulointerstitial nephritis (HP:0001970)	2.65293076
33	Abnormal rod and cone electroretinograms (HP:0008323)	2.63512671
34	Sclerocornea (HP:0000647)	2.61377770
35	Anencephaly (HP:0002323)	2.60119132
36	Abnormal drinking behavior (HP:0030082)	2.59836612
37	Polydipsia (HP:0001959)	2.59836612
38	Decreased central vision (HP:0007663)	2.55740515
39	Nephrogenic diabetes insipidus (HP:0009806)	2.50784726
40	Gaze-evoked nystagmus (HP:0000640)	2.45783608
41	Chronic sinusitis (HP:0011109)	2.45706330
42	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.44780427
43	Type II lissencephaly (HP:0007260)	2.44492137
44	Abolished electroretinogram (ERG) (HP:0000550)	2.43865416
45	Recurrent sinusitis (HP:0011108)	2.36662126
46	Hyperventilation (HP:0002883)	2.34369603
47	Infertility (HP:0000789)	2.33425046
48	Decreased circulating renin level (HP:0003351)	2.32516762
49	Genetic anticipation (HP:0003743)	2.27354346
50	Bronchitis (HP:0012387)	2.25755121
51	Male pseudohermaphroditism (HP:0000037)	2.25318872
52	Bony spicule pigmentary retinopathy (HP:0007737)	2.20611619
53	Furrowed tongue (HP:0000221)	2.20039028
54	Progressive cerebellar ataxia (HP:0002073)	2.16648142
55	Cerebellar dysplasia (HP:0007033)	2.13381200
56	Bile duct proliferation (HP:0001408)	2.12797139
57	Abnormal biliary tract physiology (HP:0012439)	2.12797139
58	Genital tract atresia (HP:0001827)	2.12121666
59	Postaxial hand polydactyly (HP:0001162)	2.05523366
60	Vaginal atresia (HP:0000148)	2.03837566
61	Tubulointerstitial abnormality (HP:0001969)	2.01556866
62	Abnormality of macular pigmentation (HP:0008002)	1.98775486
63	Polyuria (HP:0000103)	1.98373249
64	Poor coordination (HP:0002370)	1.92721237
65	Abnormality of the nasal mucosa (HP:0000433)	1.90824544
66	Preaxial hand polydactyly (HP:0001177)	1.89222792
67	Oculomotor apraxia (HP:0000657)	1.89165445
68	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.88539602
69	Absent speech (HP:0001344)	1.84708246
70	Increased corneal curvature (HP:0100692)	1.83950518
71	Keratoconus (HP:0000563)	1.83950518
72	Congenital sensorineural hearing impairment (HP:0008527)	1.83612195
73	Retinitis pigmentosa (HP:0000510)	1.82602434
74	Renal cortical cysts (HP:0000803)	1.82502588
75	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.78354740
76	Broad-based gait (HP:0002136)	1.69307989
77	Lissencephaly (HP:0001339)	1.66094308
78	Asplenia (HP:0001746)	1.65535205
79	Central scotoma (HP:0000603)	1.64355872
80	Abnormality of alanine metabolism (HP:0010916)	1.64254688
81	Hyperalaninemia (HP:0003348)	1.64254688
82	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.64254688
83	Febrile seizures (HP:0002373)	1.63531136
84	3-Methylglutaconic aciduria (HP:0003535)	1.63075524
85	Recurrent otitis media (HP:0000403)	1.62746650
86	Pendular nystagmus (HP:0012043)	1.62737464
87	Hypothermia (HP:0002045)	1.62682186
88	Hypoplasia of the fovea (HP:0007750)	1.59918495
89	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.59918495
90	Chronic otitis media (HP:0000389)	1.58307852
91	Aganglionic megacolon (HP:0002251)	1.57929119
92	Inability to walk (HP:0002540)	1.56142049
93	Severe visual impairment (HP:0001141)	1.55898449
94	Abnormal urine output (HP:0012590)	1.55545462
95	Narrow forehead (HP:0000341)	1.54688959
96	Optic nerve hypoplasia (HP:0000609)	1.54092353
97	Constricted visual fields (HP:0001133)	1.53916409
98	Supernumerary spleens (HP:0009799)	1.53615623
99	Prominent nasal bridge (HP:0000426)	1.53480586
100	Highly arched eyebrow (HP:0002553)	1.52373994

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.69428812
2	BMPR1B	3.09839153
3	ADRBK2	3.03705746
4	MAPK15	2.81463545
5	ZAK	2.77956511
6	MAP4K2	2.76161053
7	TAOK3	2.68567091
8	ACVR1B	2.51219420
9	WNK3	2.14930901
10	PINK1	2.11829455
11	MST4	2.08873366
12	GRK1	2.03922213
13	TLK1	2.00941463
14	INSRR	1.95774898
15	NUAK1	1.91552895
16	WNK4	1.89697031
17	MAP3K4	1.76939655
18	MAPK13	1.74358214
19	STK39	1.54431250
20	TXK	1.54103252
21	CASK	1.43362482
22	BRSK2	1.42469417
23	PTK2B	1.35584182
24	OXSR1	1.32238121
25	STK38L	1.30527482
26	ADRBK1	1.26937172
27	NTRK3	1.04717933
28	MAP2K7	1.00466709
29	PLK2	1.00109001
30	PAK3	0.98332531
31	PLK4	0.94365093
32	MAPKAPK3	0.92271260
33	TEC	0.90687061
34	MKNK2	0.86966639
35	PRKCE	0.83739087
36	BCR	0.83274513
37	TGFBR1	0.81270304
38	TRIM28	0.80906938
39	DAPK2	0.79467124
40	TNIK	0.76391853
41	TNK2	0.76069485
42	MARK1	0.75431129
43	CSNK1A1L	0.74971793
44	CSNK1G2	0.74229750
45	EPHA3	0.73242320
46	PRKCQ	0.72704978
47	DYRK2	0.72668958
48	PIK3CG	0.72418838
49	PRKCG	0.71223555
50	STK16	0.70327846
51	NME1	0.70055942
52	CSNK1G3	0.70040160
53	CSNK1G1	0.68187108
54	BCKDK	0.64889025
55	EPHA4	0.64812391
56	PKN1	0.63509585
57	CAMKK2	0.63462147
58	STK3	0.61414859
59	FER	0.60599095
60	RPS6KA5	0.57480656
61	IKBKB	0.57069578
62	NLK	0.54785680
63	VRK1	0.54056228
64	IRAK1	0.51958683
65	PRKAA2	0.51022505
66	CAMK2A	0.48909144
67	ERBB3	0.47165070
68	PRKACA	0.46322732
69	PRKCI	0.45337994
70	TIE1	0.45080501
71	MUSK	0.44833055
72	PHKG1	0.44337611
73	PHKG2	0.44337611
74	PNCK	0.43570022
75	MAPKAPK5	0.42924285
76	EIF2AK3	0.42225344
77	STK24	0.41255882
78	ITK	0.40163149
79	PRKG1	0.38567217
80	GRK7	0.38168779
81	KIT	0.37962020
82	PRKCA	0.37271446
83	CSNK1D	0.35409461
84	GRK5	0.35380781
85	CHUK	0.35175301
86	SGK2	0.35136880
87	CHEK2	0.34746641
88	MAP3K7	0.34571664
89	DYRK1A	0.34065466
90	MARK3	0.33987737
91	PRKAA1	0.33443332
92	OBSCN	0.33123536
93	CAMK1	0.31985855
94	MKNK1	0.31920231
95	CSNK1A1	0.31584545
96	PIK3CA	0.31428571
97	MAP2K6	0.30997572
98	ERBB2	0.29789560
99	PLK1	0.28912464
100	AKT3	0.27727610

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.94814813
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.79527260
3	Butanoate metabolism_Homo sapiens_hsa00650	2.42917566
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.32840412
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.27603811
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.25267946
7	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.21674737
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.19021097
9	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.15263975
10	Chemical carcinogenesis_Homo sapiens_hsa05204	2.14334836
11	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.08665817
12	Nicotine addiction_Homo sapiens_hsa05033	2.08642826
13	Tryptophan metabolism_Homo sapiens_hsa00380	1.97523814
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.91978123
15	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.89190463
16	ABC transporters_Homo sapiens_hsa02010	1.88168641
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.86964113
18	Caffeine metabolism_Homo sapiens_hsa00232	1.83964621
19	Olfactory transduction_Homo sapiens_hsa04740	1.77374779
20	Taste transduction_Homo sapiens_hsa04742	1.76445373
21	Homologous recombination_Homo sapiens_hsa03440	1.69304091
22	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.61896582
23	Retinol metabolism_Homo sapiens_hsa00830	1.59624128
24	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.59514791
25	Huntingtons disease_Homo sapiens_hsa05016	1.59082819
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.58094758
27	Histidine metabolism_Homo sapiens_hsa00340	1.57344152
28	beta-Alanine metabolism_Homo sapiens_hsa00410	1.56771898
29	Fanconi anemia pathway_Homo sapiens_hsa03460	1.52325311
30	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.51685000
31	Selenocompound metabolism_Homo sapiens_hsa00450	1.50737649
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.47926987
33	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.43709577
34	Oxidative phosphorylation_Homo sapiens_hsa00190	1.35660284
35	Basal transcription factors_Homo sapiens_hsa03022	1.34468642
36	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.28974683
37	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.24583162
38	Morphine addiction_Homo sapiens_hsa05032	1.24004454
39	Propanoate metabolism_Homo sapiens_hsa00640	1.22775933
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.18761626
41	Peroxisome_Homo sapiens_hsa04146	1.16469805
42	Serotonergic synapse_Homo sapiens_hsa04726	1.10418859
43	Salivary secretion_Homo sapiens_hsa04970	1.09562293
44	RNA polymerase_Homo sapiens_hsa03020	1.09323266
45	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.05934272
46	Circadian entrainment_Homo sapiens_hsa04713	1.02985578
47	Regulation of autophagy_Homo sapiens_hsa04140	0.99232369
48	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.95370298
49	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.94781727
50	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.92764440
51	Parkinsons disease_Homo sapiens_hsa05012	0.92532280
52	GABAergic synapse_Homo sapiens_hsa04727	0.92330307
53	Tyrosine metabolism_Homo sapiens_hsa00350	0.92210494
54	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.91794226
55	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.85707643
56	Glycerolipid metabolism_Homo sapiens_hsa00561	0.85192817
57	Circadian rhythm_Homo sapiens_hsa04710	0.85035274
58	Glutamatergic synapse_Homo sapiens_hsa04724	0.85015186
59	Calcium signaling pathway_Homo sapiens_hsa04020	0.83641025
60	Collecting duct acid secretion_Homo sapiens_hsa04966	0.81438210
61	Sphingolipid metabolism_Homo sapiens_hsa00600	0.79009014
62	Protein export_Homo sapiens_hsa03060	0.78546244
63	Fatty acid degradation_Homo sapiens_hsa00071	0.72950131
64	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.69955139
65	Purine metabolism_Homo sapiens_hsa00230	0.68965307
66	Insulin secretion_Homo sapiens_hsa04911	0.68724923
67	RNA degradation_Homo sapiens_hsa03018	0.68606537
68	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.65304491
69	One carbon pool by folate_Homo sapiens_hsa00670	0.63179454
70	Cardiac muscle contraction_Homo sapiens_hsa04260	0.61959851
71	Metabolic pathways_Homo sapiens_hsa01100	0.61909716
72	Glutathione metabolism_Homo sapiens_hsa00480	0.60891407
73	Graft-versus-host disease_Homo sapiens_hsa05332	0.58804248
74	Phenylalanine metabolism_Homo sapiens_hsa00360	0.58576351
75	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.58505231
76	Primary immunodeficiency_Homo sapiens_hsa05340	0.57717775
77	Alzheimers disease_Homo sapiens_hsa05010	0.55723047
78	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.55554429
79	Asthma_Homo sapiens_hsa05310	0.48552463
80	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.46990644
81	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.46410215
82	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.45824626
83	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.45414019
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.43272097
85	Type I diabetes mellitus_Homo sapiens_hsa04940	0.42749827
86	Dopaminergic synapse_Homo sapiens_hsa04728	0.36744933
87	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.36143249
88	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.36015472
89	cAMP signaling pathway_Homo sapiens_hsa04024	0.35769257
90	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.35036481
91	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.34431562
92	Pyrimidine metabolism_Homo sapiens_hsa00240	0.30393476
93	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.30312949
94	Long-term depression_Homo sapiens_hsa04730	0.30294583
95	Cholinergic synapse_Homo sapiens_hsa04725	0.30264476
96	Pancreatic secretion_Homo sapiens_hsa04972	0.29922168
97	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.29671575
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.29302175
99	Cocaine addiction_Homo sapiens_hsa05030	0.28828300
100	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.28649225

KIAA2012

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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