ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	7.22006881
2	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	7.09402820
3	base-excision repair, AP site formation (GO:0006285)	6.97189845
4	pyrimidine nucleotide catabolic process (GO:0006244)	6.05031742
5	axonemal dynein complex assembly (GO:0070286)	5.76355752
6	piRNA metabolic process (GO:0034587)	5.65484185
7	regulation of DNA methylation (GO:0044030)	5.53988767
8	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	5.40228031
9	substrate-independent telencephalic tangential migration (GO:0021826)	5.40228031
10	epithelial cilium movement (GO:0003351)	5.21502202
11	regulation of female gonad development (GO:2000194)	5.17487029
12	meiotic cell cycle (GO:0051321)	5.03569440
13	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	4.96838183
14	regulation of acrosome reaction (GO:0060046)	4.86631367
15	cilium movement (GO:0003341)	4.75506567
16	regulation of meiosis I (GO:0060631)	4.51665693
17	retinal cone cell development (GO:0046549)	4.47110144
18	multicellular organism reproduction (GO:0032504)	4.31154569
19	DNA methylation involved in gamete generation (GO:0043046)	4.27919514
20	glycine transport (GO:0015816)	4.21794884
21	cilium or flagellum-dependent cell motility (GO:0001539)	4.17563859
22	neuron fate determination (GO:0048664)	4.16834673
23	female gamete generation (GO:0007292)	3.78310086
24	intraciliary transport (GO:0042073)	3.78243071
25	regulation of cilium movement (GO:0003352)	3.72166712
26	oocyte development (GO:0048599)	3.61654213
27	positive regulation of gastrulation (GO:2000543)	3.57743860
28	proteasome assembly (GO:0043248)	3.53760837
29	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.51510795
30	centriole replication (GO:0007099)	3.50046740
31	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.43337257
32	deoxyribonucleotide catabolic process (GO:0009264)	3.41266431
33	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	3.40865973
34	synapsis (GO:0007129)	3.40411669
35	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.35903447
36	protein complex biogenesis (GO:0070271)	3.35119242
37	regulation of cell maturation (GO:1903429)	3.29663237
38	negative regulation of reproductive process (GO:2000242)	3.24893196
39	microtubule depolymerization (GO:0007019)	3.22956366
40	CENP-A containing nucleosome assembly (GO:0034080)	3.18808272
41	positive regulation of histone H3-K4 methylation (GO:0051571)	3.13172523
42	regulation of microtubule-based movement (GO:0060632)	3.12461639
43	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.11948259
44	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.11948259
45	NADH dehydrogenase complex assembly (GO:0010257)	3.11948259
46	deoxyribose phosphate catabolic process (GO:0046386)	3.08172047
47	base-excision repair (GO:0006284)	3.05607084
48	ATP synthesis coupled proton transport (GO:0015986)	3.03902780
49	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.03902780
50	regulation of retinoic acid receptor signaling pathway (GO:0048385)	3.02794231
51	male meiosis I (GO:0007141)	3.02611515
52	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.02241761
53	termination of RNA polymerase III transcription (GO:0006386)	3.02241761
54	chromatin remodeling at centromere (GO:0031055)	3.02186627
55	mitochondrial respiratory chain complex assembly (GO:0033108)	2.94427837
56	nonmotile primary cilium assembly (GO:0035058)	2.92898841
57	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.91952786
58	cullin deneddylation (GO:0010388)	2.83771948
59	respiratory electron transport chain (GO:0022904)	2.83761771
60	protein polyglutamylation (GO:0018095)	2.81447048
61	electron transport chain (GO:0022900)	2.77674382
62	regulation of steroid hormone secretion (GO:2000831)	2.75653497
63	sequestering of actin monomers (GO:0042989)	2.73703644
64	gene silencing by RNA (GO:0031047)	2.72013082
65	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.71877898
66	cilium assembly (GO:0042384)	2.70744087
67	cilium organization (GO:0044782)	2.70543686
68	reproduction (GO:0000003)	2.69330114
69	protein localization to chromosome, centromeric region (GO:0071459)	2.69158746
70	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.67031513
71	meiosis I (GO:0007127)	2.65390075
72	chromosome organization involved in meiosis (GO:0070192)	2.62649170
73	motile cilium assembly (GO:0044458)	2.60727958
74	photoreceptor cell development (GO:0042461)	2.60531666
75	male meiosis (GO:0007140)	2.60288491
76	2-deoxyribonucleotide metabolic process (GO:0009394)	2.57401716
77	protein deneddylation (GO:0000338)	2.57023576
78	positive regulation of mitochondrial fission (GO:0090141)	2.56570400
79	attachment of spindle microtubules to kinetochore (GO:0008608)	2.56547266
80	histone exchange (GO:0043486)	2.53615550
81	axoneme assembly (GO:0035082)	2.51491099
82	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.51053554
83	binding of sperm to zona pellucida (GO:0007339)	2.50125548
84	phosphorelay signal transduction system (GO:0000160)	2.50010690
85	cilium morphogenesis (GO:0060271)	2.49853696
86	behavioral response to nicotine (GO:0035095)	2.48838103
87	regulation of histone H3-K9 methylation (GO:0051570)	2.47826449
88	mitotic chromosome condensation (GO:0007076)	2.45584782
89	anterograde axon cargo transport (GO:0008089)	2.43972839
90	synaptonemal complex assembly (GO:0007130)	2.43330593
91	centriole assembly (GO:0098534)	2.42193662
92	7-methylguanosine mRNA capping (GO:0006370)	2.40223367
93	meiotic cell cycle process (GO:1903046)	2.40138106
94	pyrimidine dimer repair (GO:0006290)	2.39997664
95	transcription-coupled nucleotide-excision repair (GO:0006283)	2.39982369
96	sperm-egg recognition (GO:0035036)	2.38815218
97	mitotic metaphase plate congression (GO:0007080)	2.37723874
98	transcription elongation from RNA polymerase I promoter (GO:0006362)	2.36063482
99	deoxyribose phosphate metabolic process (GO:0019692)	2.35032730
100	retinal rod cell development (GO:0046548)	2.34983661

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.45019041
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.08296536
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.99548869
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.92398668
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.72882024
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.48397166
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.47005513
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.38122701
9	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.35771539
10	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.31443342
11	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.21709021
12	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.18663596
13	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.14995122
14	EZH2_22144423_ChIP-Seq_EOC_Human	10.1979520
15	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.95422044
16	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.93967697
17	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.90872578
18	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.86663953
19	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.76610534
20	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.64277657
21	GBX2_23144817_ChIP-Seq_PC3_Human	1.57861411
22	VDR_23849224_ChIP-Seq_CD4+_Human	1.56977932
23	IRF1_19129219_ChIP-ChIP_H3396_Human	1.53911846
24	VDR_22108803_ChIP-Seq_LS180_Human	1.53083657
25	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.52359604
26	ELK1_19687146_ChIP-ChIP_HELA_Human	1.49529781
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.48380249
28	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.47921619
29	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.45379149
30	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43301991
31	EWS_26573619_Chip-Seq_HEK293_Human	1.42952236
32	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.42707658
33	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.41112329
34	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.39984687
35	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.39728071
36	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.36354979
37	RNF2_27304074_Chip-Seq_NSC_Mouse	1.35026966
38	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.33033741
39	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.31772394
40	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.30097824
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.29976034
42	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.29936660
43	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.29775522
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.26758474
45	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.26400515
46	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.25238531
47	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.24770443
48	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.24277696
49	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.23582059
50	CBP_20019798_ChIP-Seq_JUKART_Human	1.23582059
51	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.23002762
52	P300_19829295_ChIP-Seq_ESCs_Human	1.19018561
53	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.16894597
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.16425420
55	* FOXP3_21729870_ChIP-Seq_TREG_Human	1.15244592
56	GABP_19822575_ChIP-Seq_HepG2_Human	1.15196971
57	FUS_26573619_Chip-Seq_HEK293_Human	1.15056877
58	REST_21632747_ChIP-Seq_MESCs_Mouse	1.14390588
59	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.13096119
60	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.12743017
61	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.12367918
62	* TP53_22573176_ChIP-Seq_HFKS_Human	1.10592488
63	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.09038624
64	TTF2_22483619_ChIP-Seq_HELA_Human	1.05235949
65	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.03446779
66	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.01908397
67	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.99491645
68	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	0.98550436
69	AR_25329375_ChIP-Seq_VCAP_Human	0.96789083
70	SMAD4_21799915_ChIP-Seq_A2780_Human	0.94108519
71	* NANOG_20526341_ChIP-Seq_ESCs_Human	0.93831473
72	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.92997105
73	RUNX2_22187159_ChIP-Seq_PCA_Human	0.92993767
74	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.92764206
75	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.91972012
76	TAF15_26573619_Chip-Seq_HEK293_Human	0.91558808
77	AR_20517297_ChIP-Seq_VCAP_Human	0.91445944
78	* FOXH1_21741376_ChIP-Seq_EPCs_Human	0.91239690
79	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.90342532
80	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.89858187
81	DCP1A_22483619_ChIP-Seq_HELA_Human	0.89205120
82	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	0.88446699
83	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	0.88446699
84	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	0.88446699
85	NANOG_18555785_ChIP-Seq_MESCs_Mouse	0.87497694
86	* ELK1_22589737_ChIP-Seq_MCF10A_Human	0.86440975
87	ER_23166858_ChIP-Seq_MCF-7_Human	0.86421190
88	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.86062328
89	TCF4_23295773_ChIP-Seq_U87_Human	0.83697798
90	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.83391271
91	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.83289143
92	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.82174806
93	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.81816344
94	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.80613517
95	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.79891929
96	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.78813118
97	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.78813118
98	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.78045879
99	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.78019491
100	IGF1R_20145208_ChIP-Seq_DFB_Human	0.77771924

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003718_maternal_effect	5.31060569
2	MP0008789_abnormal_olfactory_epithelium	3.95713994
3	MP0006292_abnormal_olfactory_placode	3.80568075
4	MP0005394_taste/olfaction_phenotype	3.43424919
5	MP0005499_abnormal_olfactory_system	3.43424919
6	MP0003880_abnormal_central_pattern	3.02667829
7	MP0008877_abnormal_DNA_methylation	3.00082331
8	MP0010030_abnormal_orbit_morphology	2.72652056
9	MP0003136_yellow_coat_color	2.42592123
10	MP0002653_abnormal_ependyma_morphology	2.39652843
11	MP0005423_abnormal_somatic_nervous	2.02767987
12	MP0002234_abnormal_pharynx_morphology	2.01680759
13	MP0001984_abnormal_olfaction	2.01277393
14	MP0005395_other_phenotype	1.91560595
15	MP0006276_abnormal_autonomic_nervous	1.86457176
16	MP0003890_abnormal_embryonic-extraembry	1.86104267
17	MP0000566_synostosis	1.85151390
18	MP0003121_genomic_imprinting	1.81640799
19	MP0009379_abnormal_foot_pigmentation	1.81392262
20	MP0005645_abnormal_hypothalamus_physiol	1.79607620
21	MP0005551_abnormal_eye_electrophysiolog	1.76820725
22	MP0008058_abnormal_DNA_repair	1.76370420
23	MP0002210_abnormal_sex_determination	1.75078818
24	MP0001293_anophthalmia	1.74816263
25	MP0005646_abnormal_pituitary_gland	1.73014472
26	MP0004142_abnormal_muscle_tone	1.72106063
27	MP0005360_urolithiasis	1.70776742
28	MP0000631_abnormal_neuroendocrine_gland	1.65184630
29	MP0001929_abnormal_gametogenesis	1.64886764
30	MP0002638_abnormal_pupillary_reflex	1.61611727
31	MP0002272_abnormal_nervous_system	1.58091115
32	MP0008995_early_reproductive_senescence	1.57877059
33	MP0006072_abnormal_retinal_apoptosis	1.55009288
34	MP0002160_abnormal_reproductive_system	1.52786360
35	MP0003693_abnormal_embryo_hatching	1.49509047
36	MP0001529_abnormal_vocalization	1.46649044
37	MP0000049_abnormal_middle_ear	1.45789459
38	MP0003879_abnormal_hair_cell	1.42876838
39	MP0000778_abnormal_nervous_system	1.42044492
40	MP0003699_abnormal_female_reproductive	1.32889245
41	MP0000653_abnormal_sex_gland	1.30735411
42	MP0002102_abnormal_ear_morphology	1.27120926
43	MP0003183_abnormal_peptide_metabolism	1.26037593
44	MP0000026_abnormal_inner_ear	1.25408866
45	MP0002233_abnormal_nose_morphology	1.24380315
46	MP0001502_abnormal_circadian_rhythm	1.22307425
47	MP0002928_abnormal_bile_duct	1.16818450
48	MP0003122_maternal_imprinting	1.16802895
49	MP0003698_abnormal_male_reproductive	1.16335300
50	MP0002161_abnormal_fertility/fecundity	1.15842857
51	MP0008932_abnormal_embryonic_tissue	1.15050738
52	MP0005410_abnormal_fertilization	1.14606879
53	MP0002734_abnormal_mechanical_nocicepti	1.12201696
54	MP0001986_abnormal_taste_sensitivity	1.10511469
55	MP0001145_abnormal_male_reproductive	1.08412738
56	MP0005253_abnormal_eye_physiology	1.07202605
57	MP0002822_catalepsy	1.03589117
58	MP0003077_abnormal_cell_cycle	1.00836627
59	MP0005389_reproductive_system_phenotype	0.99217275
60	MP0004270_analgesia	0.99189975
61	MP0005195_abnormal_posterior_eye	0.95702794
62	MP0000569_abnormal_digit_pigmentation	0.94496720
63	MP0001905_abnormal_dopamine_level	0.94258491
64	MP0003119_abnormal_digestive_system	0.93736687
65	MP0002557_abnormal_social/conspecific_i	0.92789345
66	MP0009745_abnormal_behavioral_response	0.92103617
67	MP0001324_abnormal_eye_pigmentation	0.91832184
68	MP0002572_abnormal_emotion/affect_behav	0.91256826
69	MP0002752_abnormal_somatic_nervous	0.90893540
70	MP0005174_abnormal_tail_pigmentation	0.90875715
71	MP0001963_abnormal_hearing_physiology	0.88158888
72	MP0010094_abnormal_chromosome_stability	0.87443564
73	MP0001486_abnormal_startle_reflex	0.87174750
74	MP0000762_abnormal_tongue_morphology	0.84849933
75	MP0001119_abnormal_female_reproductive	0.84765452
76	MP0003635_abnormal_synaptic_transmissio	0.84668234
77	MP0002882_abnormal_neuron_morphology	0.82437380
78	MP0006036_abnormal_mitochondrial_physio	0.80656784
79	MP0005084_abnormal_gallbladder_morpholo	0.80233371
80	MP0002751_abnormal_autonomic_nervous	0.79402247
81	MP0003186_abnormal_redox_activity	0.78791362
82	MP0002138_abnormal_hepatobiliary_system	0.77131918
83	MP0001286_abnormal_eye_development	0.77100797
84	MP0002095_abnormal_skin_pigmentation	0.76875214
85	MP0002163_abnormal_gland_morphology	0.76792495
86	MP0000427_abnormal_hair_cycle	0.76673940
87	MP0005391_vision/eye_phenotype	0.76243280
88	MP0003938_abnormal_ear_development	0.75301508
89	MP0003252_abnormal_bile_duct	0.74579620
90	MP0002139_abnormal_hepatobiliary_system	0.71615164
91	MP0009046_muscle_twitch	0.70158044
92	MP0002067_abnormal_sensory_capabilities	0.68809575
93	MP0005085_abnormal_gallbladder_physiolo	0.67663393
94	MP0004811_abnormal_neuron_physiology	0.67397980
95	MP0002063_abnormal_learning/memory/cond	0.66821088
96	MP0000372_irregular_coat_pigmentation	0.66251178
97	MP0000955_abnormal_spinal_cord	0.65943431
98	MP0003861_abnormal_nervous_system	0.65087770
99	MP0002837_dystrophic_cardiac_calcinosis	0.64767832
100	MP0002229_neurodegeneration	0.63731961

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal ciliary motility (HP:0012262)	5.62852504
2	Abnormal respiratory motile cilium morphology (HP:0005938)	5.61380687
3	Abnormal respiratory epithelium morphology (HP:0012253)	5.61380687
4	Abnormal respiratory motile cilium physiology (HP:0012261)	5.21640283
5	Supernumerary spleens (HP:0009799)	4.82238394
6	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.76678362
7	Absent/shortened dynein arms (HP:0200106)	4.76678362
8	Infertility (HP:0000789)	4.20421036
9	Rhinitis (HP:0012384)	4.07294501
10	Medial flaring of the eyebrow (HP:0010747)	3.92874508
11	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.86247157
12	Abnormality of midbrain morphology (HP:0002418)	3.83570528
13	Molar tooth sign on MRI (HP:0002419)	3.83570528
14	Gait imbalance (HP:0002141)	3.36451655
15	Congenital primary aphakia (HP:0007707)	3.31098325
16	Oligodactyly (hands) (HP:0001180)	3.30385280
17	Acute necrotizing encephalopathy (HP:0006965)	3.25728520
18	Nephrogenic diabetes insipidus (HP:0009806)	3.17082270
19	Pancreatic fibrosis (HP:0100732)	3.06492035
20	Short tibia (HP:0005736)	3.01265772
21	Myokymia (HP:0002411)	3.01211519
22	Bronchiectasis (HP:0002110)	2.91835622
23	Abnormal mitochondria in muscle tissue (HP:0008316)	2.90246112
24	Male infertility (HP:0003251)	2.89816390
25	Acute encephalopathy (HP:0006846)	2.85448103
26	Median cleft lip (HP:0000161)	2.84977335
27	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.80371677
28	Progressive macrocephaly (HP:0004481)	2.76730683
29	True hermaphroditism (HP:0010459)	2.74142640
30	Septo-optic dysplasia (HP:0100842)	2.71439182
31	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.68567845
32	Genital tract atresia (HP:0001827)	2.66873318
33	Pancreatic cysts (HP:0001737)	2.62451348
34	Renal Fanconi syndrome (HP:0001994)	2.58692077
35	Mitochondrial inheritance (HP:0001427)	2.58490718
36	Abnormality of abdominal situs (HP:0011620)	2.52668872
37	Abdominal situs inversus (HP:0003363)	2.52668872
38	Chronic sinusitis (HP:0011109)	2.49375611
39	Absent septum pellucidum (HP:0001331)	2.45055101
40	Poor coordination (HP:0002370)	2.42875443
41	Hypoplasia of the fovea (HP:0007750)	2.42429574
42	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.42429574
43	Vaginal atresia (HP:0000148)	2.42114206
44	Hyperglycinemia (HP:0002154)	2.40263010
45	Postaxial hand polydactyly (HP:0001162)	2.38716603
46	Nephronophthisis (HP:0000090)	2.38207928
47	Oligodactyly (HP:0012165)	2.35200292
48	Increased hepatocellular lipid droplets (HP:0006565)	2.34995214
49	Chronic bronchitis (HP:0004469)	2.33437283
50	Anterior segment dysgenesis (HP:0007700)	2.31635196
51	Impulsivity (HP:0100710)	2.29001072
52	Retinal dysplasia (HP:0007973)	2.28861142
53	Chronic hepatic failure (HP:0100626)	2.27057483
54	Sclerocornea (HP:0000647)	2.26232146
55	Abnormality of the fovea (HP:0000493)	2.25944690
56	3-Methylglutaconic aciduria (HP:0003535)	2.23971212
57	Lipid accumulation in hepatocytes (HP:0006561)	2.23605009
58	Increased CSF lactate (HP:0002490)	2.22617983
59	Hypokinesia (HP:0002375)	2.18171939
60	Facial hemangioma (HP:0000329)	2.16918534
61	Preaxial hand polydactyly (HP:0001177)	2.14950732
62	Abnormality of the labia minora (HP:0012880)	2.13545985
63	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.05027098
64	Cholecystitis (HP:0001082)	2.02842606
65	Abnormal gallbladder physiology (HP:0012438)	2.02842606
66	Postaxial foot polydactyly (HP:0001830)	1.97968424
67	Hepatic necrosis (HP:0002605)	1.95242935
68	Generalized aminoaciduria (HP:0002909)	1.93515861
69	Severe visual impairment (HP:0001141)	1.92579701
70	Congenital hepatic fibrosis (HP:0002612)	1.91974410
71	Anencephaly (HP:0002323)	1.90092786
72	Hypoplastic pelvis (HP:0008839)	1.88710789
73	Aganglionic megacolon (HP:0002251)	1.86785160
74	Osteomalacia (HP:0002749)	1.85998521
75	Abnormality of the septum pellucidum (HP:0007375)	1.85338647
76	Narrow forehead (HP:0000341)	1.82793197
77	Limb dystonia (HP:0002451)	1.82363694
78	Abnormality of the renal medulla (HP:0100957)	1.81971654
79	Azoospermia (HP:0000027)	1.81530690
80	Occipital encephalocele (HP:0002085)	1.81414748
81	Hypophosphatemic rickets (HP:0004912)	1.78722580
82	Cystic liver disease (HP:0006706)	1.77452555
83	Papillary thyroid carcinoma (HP:0002895)	1.76898093
84	Atelectasis (HP:0100750)	1.76558947
85	Methylmalonic acidemia (HP:0002912)	1.75221697
86	Bifid tongue (HP:0010297)	1.72115335
87	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.71991879
88	Cerebral edema (HP:0002181)	1.70417508
89	Colon cancer (HP:0003003)	1.69103771
90	Hepatocellular necrosis (HP:0001404)	1.68548538
91	Oculomotor apraxia (HP:0000657)	1.67225156
92	Specific learning disability (HP:0001328)	1.66260404
93	Aplasia/Hypoplasia of the lens (HP:0008063)	1.65553933
94	Prominent nasal bridge (HP:0000426)	1.65552672
95	Retinitis pigmentosa (HP:0000510)	1.65469928
96	Pendular nystagmus (HP:0012043)	1.62390497
97	Exercise intolerance (HP:0003546)	1.62165234
98	Decreased testicular size (HP:0008734)	1.60840681
99	Abnormality of renal resorption (HP:0011038)	1.60775908
100	Chromsome breakage (HP:0040012)	1.60183148

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ARAF	4.72380372
2	MAP3K9	4.71666379
3	MAP3K13	2.40892591
4	MAPK15	2.33627419
5	NTRK2	2.11864836
6	TRIM28	2.06891274
7	MAP2K7	2.03995154
8	BRSK2	2.01433168
9	BRAF	1.95659092
10	MAP3K4	1.84482166
11	VRK2	1.84149942
12	BCKDK	1.73551176
13	WNK3	1.69332644
14	VRK1	1.68474385
15	BRSK1	1.66343121
16	MOS	1.63976556
17	EIF2AK3	1.63320787
18	NEK6	1.61054005
19	STK16	1.60964722
20	PNCK	1.57424518
21	AURKA	1.56729499
22	ZAK	1.54906706
23	MAP4K2	1.52207624
24	BUB1	1.50830562
25	TAOK3	1.47192195
26	STK24	1.44019045
27	TTK	1.42332480
28	TNIK	1.42304123
29	CDK19	1.37619644
30	RAF1	1.34295541
31	BMPR1B	1.33068129
32	KSR1	1.30474133
33	PLK3	1.28041665
34	CASK	1.26913049
35	CSNK1G1	1.25964418
36	CDK8	1.25963477
37	CSNK1G3	1.25940103
38	DYRK2	1.24382900
39	PLK1	1.24349631
40	NUAK1	1.21377782
41	PINK1	1.21360089
42	CSNK1G2	1.21358400
43	PLK4	1.20274800
44	TSSK6	1.17041637
45	PRKCI	1.15696969
46	KSR2	1.15240405
47	EPHB2	1.07791947
48	CDK9	1.07156038
49	MAP3K12	1.04878506
50	MET	1.03921767
51	CSNK1A1L	1.01050061
52	CAMKK2	0.97544841
53	CDC7	0.96403419
54	ADRBK2	0.93081531
55	CDK7	0.92588050
56	LRRK2	0.90649329
57	SRPK1	0.90007019
58	WEE1	0.87992955
59	BCR	0.85065731
60	PLK2	0.84413823
61	GRK1	0.84159010
62	MAPK13	0.83722570
63	TESK2	0.81995774
64	NME1	0.80101292
65	LIMK1	0.78295463
66	MARK1	0.78202941
67	INSRR	0.76407275
68	CCNB1	0.74417418
69	NTRK3	0.72139786
70	PRKD3	0.70103785
71	TLK1	0.69830135
72	EPHA4	0.66772780
73	MST4	0.66089765
74	ERBB3	0.64007833
75	DYRK3	0.62585627
76	PBK	0.61505152
77	MAPKAPK5	0.60990732
78	PKN1	0.59523123
79	PIM2	0.57834299
80	TIE1	0.56306831
81	MAP3K5	0.55422112
82	TESK1	0.52366453
83	CAMK2A	0.50355200
84	AURKB	0.49590589
85	MAP2K4	0.47866686
86	MELK	0.46063215
87	LMTK2	0.45912944
88	STK39	0.45016839
89	CHEK2	0.40102286
90	PRKCG	0.39069972
91	PAK1	0.39001784
92	ATR	0.38965348
93	NEK1	0.38913314
94	PRKACA	0.37674142
95	CDK14	0.37370728
96	PRKACB	0.36589435
97	CHEK1	0.35190837
98	CSNK2A2	0.34154627
99	MUSK	0.33852459
100	NEK9	0.33792701

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	3.76181852
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.69263928
3	Parkinsons disease_Homo sapiens_hsa05012	3.24472973
4	RNA polymerase_Homo sapiens_hsa03020	3.04739515
5	Huntingtons disease_Homo sapiens_hsa05016	2.73487944
6	Mismatch repair_Homo sapiens_hsa03430	2.58976526
7	Ribosome_Homo sapiens_hsa03010	2.51185810
8	Proteasome_Homo sapiens_hsa03050	2.36919459
9	Base excision repair_Homo sapiens_hsa03410	2.32987297
10	Protein export_Homo sapiens_hsa03060	2.21554540
11	Homologous recombination_Homo sapiens_hsa03440	2.17348950
12	Cell cycle_Homo sapiens_hsa04110	2.03790432
13	Alzheimers disease_Homo sapiens_hsa05010	2.02497490
14	Nucleotide excision repair_Homo sapiens_hsa03420	1.96168973
15	Cardiac muscle contraction_Homo sapiens_hsa04260	1.93637057
16	Fanconi anemia pathway_Homo sapiens_hsa03460	1.90679753
17	RNA degradation_Homo sapiens_hsa03018	1.90038022
18	Nicotine addiction_Homo sapiens_hsa05033	1.89920554
19	Folate biosynthesis_Homo sapiens_hsa00790	1.85067934
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.79270450
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.72672339
22	Oocyte meiosis_Homo sapiens_hsa04114	1.69245852
23	Steroid biosynthesis_Homo sapiens_hsa00100	1.66444143
24	DNA replication_Homo sapiens_hsa03030	1.66075709
25	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.64780123
26	Caffeine metabolism_Homo sapiens_hsa00232	1.47245927
27	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.45460802
28	Phototransduction_Homo sapiens_hsa04744	1.39029322
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.36349902
30	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.29242491
31	Fatty acid elongation_Homo sapiens_hsa00062	1.25672007
32	Olfactory transduction_Homo sapiens_hsa04740	1.24028340
33	Collecting duct acid secretion_Homo sapiens_hsa04966	1.22687749
34	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.22193144
35	Pyrimidine metabolism_Homo sapiens_hsa00240	1.19657055
36	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.19100678
37	Circadian rhythm_Homo sapiens_hsa04710	1.14664196
38	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.13113375
39	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.12700478
40	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.10660304
41	RNA transport_Homo sapiens_hsa03013	1.10496812
42	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.08658350
43	Regulation of autophagy_Homo sapiens_hsa04140	1.06601952
44	Propanoate metabolism_Homo sapiens_hsa00640	1.06598330
45	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.05323333
46	Purine metabolism_Homo sapiens_hsa00230	0.98443386
47	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.96690708
48	Cocaine addiction_Homo sapiens_hsa05030	0.95981162
49	Sulfur relay system_Homo sapiens_hsa04122	0.92460488
50	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.89126025
51	GABAergic synapse_Homo sapiens_hsa04727	0.86822281
52	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.83482666
53	Taste transduction_Homo sapiens_hsa04742	0.81391974
54	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.80335371
55	Pyruvate metabolism_Homo sapiens_hsa00620	0.77342175
56	p53 signaling pathway_Homo sapiens_hsa04115	0.77222517
57	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.74984352
58	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.73570351
59	Peroxisome_Homo sapiens_hsa04146	0.70399731
60	Spliceosome_Homo sapiens_hsa03040	0.69650288
61	Metabolic pathways_Homo sapiens_hsa01100	0.67607902
62	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.67399399
63	Butanoate metabolism_Homo sapiens_hsa00650	0.67083690
64	Morphine addiction_Homo sapiens_hsa05032	0.66317249
65	Glutathione metabolism_Homo sapiens_hsa00480	0.58619459
66	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.57733446
67	Basal cell carcinoma_Homo sapiens_hsa05217	0.56308885
68	Vibrio cholerae infection_Homo sapiens_hsa05110	0.55790123
69	Alcoholism_Homo sapiens_hsa05034	0.53229572
70	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.47271179
71	Amphetamine addiction_Homo sapiens_hsa05031	0.45743539
72	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.43794176
73	Serotonergic synapse_Homo sapiens_hsa04726	0.43410768
74	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.43323326
75	Chemical carcinogenesis_Homo sapiens_hsa05204	0.43186827
76	Gap junction_Homo sapiens_hsa04540	0.42513197
77	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.41528465
78	mRNA surveillance pathway_Homo sapiens_hsa03015	0.40627485
79	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.39674220
80	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.37305098
81	Glutamatergic synapse_Homo sapiens_hsa04724	0.36337034
82	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.34771568
83	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.34039162
84	Notch signaling pathway_Homo sapiens_hsa04330	0.34032746
85	Linoleic acid metabolism_Homo sapiens_hsa00591	0.33612932
86	Dopaminergic synapse_Homo sapiens_hsa04728	0.33188893
87	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.32392745
88	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.32230616
89	Ether lipid metabolism_Homo sapiens_hsa00565	0.30761952
90	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.30710043
91	Axon guidance_Homo sapiens_hsa04360	0.30547411
92	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.29935649
93	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.29389857
94	Hippo signaling pathway_Homo sapiens_hsa04390	0.29246416
95	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.27413608
96	Arginine and proline metabolism_Homo sapiens_hsa00330	0.26628459
97	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.26147389
98	Selenocompound metabolism_Homo sapiens_hsa00450	0.24998259
99	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.24874902
100	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.24680484

C6ORF52

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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