ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of memory T cell differentiation (GO:0043380)	8.48161159
2	negative regulation of multicellular organism growth (GO:0040015)	8.15999089
3	cytoplasmic mRNA processing body assembly (GO:0033962)	7.97834622
4	sex differentiation (GO:0007548)	7.31955693
5	regulation of establishment of cell polarity (GO:2000114)	7.19436206
6	regulation of MHC class I biosynthetic process (GO:0045343)	7.03474328
7	seminiferous tubule development (GO:0072520)	6.82665429
8	somite rostral/caudal axis specification (GO:0032525)	6.58954660
9	negative regulation of type 2 immune response (GO:0002829)	6.18815964
10	cerebellar Purkinje cell differentiation (GO:0021702)	6.02894397
11	regulation of establishment or maintenance of cell polarity (GO:0032878)	5.72885707
12	stress granule assembly (GO:0034063)	5.62863139
13	endoderm formation (GO:0001706)	5.57727407
14	positive regulation of vasculogenesis (GO:2001214)	5.53833314
15	regulation of interleukin-13 production (GO:0032656)	5.30731325
16	cholesterol catabolic process (GO:0006707)	5.10192372
17	sterol catabolic process (GO:0016127)	5.10192372
18	alternative mRNA splicing, via spliceosome (GO:0000380)	4.75100882
19	primitive streak formation (GO:0090009)	4.67959501
20	CENP-A containing nucleosome assembly (GO:0034080)	4.64126218
21	ADP metabolic process (GO:0046031)	4.48749122
22	cell migration involved in gastrulation (GO:0042074)	4.47032272
23	signal transduction involved in regulation of gene expression (GO:0023019)	4.34388928
24	regulation of interleukin-5 production (GO:0032674)	4.33976204
25	chromatin remodeling at centromere (GO:0031055)	4.30115719
26	centrosome duplication (GO:0051298)	4.20165879
27	regulation of vasculogenesis (GO:2001212)	4.18053697
28	lipid particle organization (GO:0034389)	4.17939676
29	male meiosis I (GO:0007141)	4.13627614
30	negative regulation of receptor-mediated endocytosis (GO:0048261)	4.13026160
31	regulation of mesoderm development (GO:2000380)	4.04502696
32	nucleoside diphosphate catabolic process (GO:0009134)	4.01162805
33	kynurenine metabolic process (GO:0070189)	4.00311627
34	tryptophan catabolic process (GO:0006569)	3.96194780
35	indole-containing compound catabolic process (GO:0042436)	3.96194780
36	indolalkylamine catabolic process (GO:0046218)	3.96194780
37	embryonic foregut morphogenesis (GO:0048617)	3.96153267
38	positive regulation of male gonad development (GO:2000020)	3.95973262
39	parturition (GO:0007567)	3.64982435
40	regulation of male gonad development (GO:2000018)	3.60239851
41	histone exchange (GO:0043486)	3.59543558
42	regulation of metalloenzyme activity (GO:0048552)	3.51786866
43	glomerulus development (GO:0032835)	3.47672550
44	fat-soluble vitamin catabolic process (GO:0042363)	3.43549767
45	vitamin catabolic process (GO:0009111)	3.43549767
46	acrosome assembly (GO:0001675)	3.39037392
47	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.38948108
48	anterior/posterior axis specification (GO:0009948)	3.33848447
49	negative regulation of endothelial cell apoptotic process (GO:2000352)	3.32843080
50	fucose catabolic process (GO:0019317)	3.32448576
51	L-fucose metabolic process (GO:0042354)	3.32448576
52	L-fucose catabolic process (GO:0042355)	3.32448576
53	protein neddylation (GO:0045116)	3.31411271
54	regulation of action potential (GO:0098900)	3.24763850
55	neural tube formation (GO:0001841)	3.24022478
56	DNA replication-independent nucleosome organization (GO:0034724)	3.23555945
57	DNA replication-independent nucleosome assembly (GO:0006336)	3.23555945
58	embryonic axis specification (GO:0000578)	3.22445007
59	synaptic transmission, cholinergic (GO:0007271)	3.19407358
60	bile acid biosynthetic process (GO:0006699)	3.15765830
61	tryptophan metabolic process (GO:0006568)	3.15110935
62	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	3.14229122
63	meiosis I (GO:0007127)	3.13981847
64	regulation of collateral sprouting (GO:0048670)	3.10727383
65	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.07455478
66	male meiosis (GO:0007140)	3.05814849
67	cell differentiation in hindbrain (GO:0021533)	3.05491972
68	protein autoprocessing (GO:0016540)	3.03681156
69	estrogen biosynthetic process (GO:0006703)	3.01811397
70	synapsis (GO:0007129)	2.98210274
71	negative regulation of mast cell activation (GO:0033004)	2.92684473
72	DNA replication checkpoint (GO:0000076)	2.91723909
73	indolalkylamine metabolic process (GO:0006586)	2.81335777
74	regulation of female gonad development (GO:2000194)	2.80028221
75	response to X-ray (GO:0010165)	2.77851552
76	kidney morphogenesis (GO:0060993)	2.77637848
77	sex determination (GO:0007530)	2.73832568
78	regulation of posttranscriptional gene silencing (GO:0060147)	2.72520792
79	regulation of gene silencing by miRNA (GO:0060964)	2.72520792
80	regulation of gene silencing by RNA (GO:0060966)	2.72520792
81	histone H3-K4 trimethylation (GO:0080182)	2.72194664
82	proline transport (GO:0015824)	2.71547061
83	embryonic digestive tract morphogenesis (GO:0048557)	2.69849570
84	negative regulation of organ growth (GO:0046621)	2.69353276
85	head development (GO:0060322)	2.67117641
86	anterior/posterior axis specification, embryo (GO:0008595)	2.63517150
87	mesenchymal to epithelial transition (GO:0060231)	2.62635721
88	positive regulation of gastrulation (GO:2000543)	2.61889975
89	negative regulation of T cell differentiation (GO:0045581)	2.60899431
90	phosphatidylglycerol biosynthetic process (GO:0006655)	2.60406444
91	phospholipid translocation (GO:0045332)	2.59670623
92	lipid translocation (GO:0034204)	2.59670623
93	chromosome organization involved in meiosis (GO:0070192)	2.59412629
94	regulation of triglyceride catabolic process (GO:0010896)	2.58707736
95	central nervous system projection neuron axonogenesis (GO:0021952)	2.55749714
96	dorsal/ventral neural tube patterning (GO:0021904)	2.55194911
97	synaptonemal complex assembly (GO:0007130)	2.53095184
98	detection of chemical stimulus involved in sensory perception (GO:0050907)	2.52169946
99	negative regulation of activin receptor signaling pathway (GO:0032926)	2.51801199
100	embryonic pattern specification (GO:0009880)	2.51676483

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	7.62124657
2	VDR_22108803_ChIP-Seq_LS180_Human	4.35005793
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.71274090
4	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.69334475
5	TAF15_26573619_Chip-Seq_HEK293_Human	2.99195509
6	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.78232038
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.64592476
8	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.60815005
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.52779580
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.31463741
11	FUS_26573619_Chip-Seq_HEK293_Human	2.26637793
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.21772894
13	* BCAT_22108803_ChIP-Seq_LS180_Human	2.18832252
14	ER_23166858_ChIP-Seq_MCF-7_Human	2.10885260
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.10565810
16	IGF1R_20145208_ChIP-Seq_DFB_Human	2.02499085
17	ZNF274_21170338_ChIP-Seq_K562_Hela	1.95644148
18	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.87606610
19	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.86361324
20	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.84922215
21	P300_19829295_ChIP-Seq_ESCs_Human	1.82075812
22	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.74368467
23	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.69983313
24	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.69353730
25	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.65079401
26	EWS_26573619_Chip-Seq_HEK293_Human	1.64678884
27	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.61937986
28	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.61848752
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.61656695
30	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.61559463
31	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.60256812
32	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.55221970
33	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.54350110
34	RNF2_27304074_Chip-Seq_NSC_Mouse	1.53308890
35	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48817625
36	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.47782911
37	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.46893287
38	AR_25329375_ChIP-Seq_VCAP_Human	1.46411881
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.41428625
40	CDX2_22108803_ChIP-Seq_LS180_Human	1.34814121
41	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34802545
42	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.34588953
43	TCF4_22108803_ChIP-Seq_LS180_Human	1.34408266
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.32642451
45	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.32314187
46	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.31742529
47	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.27423014
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.26587738
49	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.26587738
50	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.25961362
51	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.25957602
52	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.25957602
53	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.25119220
54	TCF4_23295773_ChIP-Seq_U87_Human	1.24814645
55	STAT3_23295773_ChIP-Seq_U87_Human	1.24040948
56	* RUNX2_22187159_ChIP-Seq_PCA_Human	1.22805900
57	SMAD4_21799915_ChIP-Seq_A2780_Human	1.21497204
58	TBL1_22424771_ChIP-Seq_293T_Human	1.20472228
59	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.18233035
60	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.18155775
61	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.17394088
62	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.17136124
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.15514106
64	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.12462487
65	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.11989985
66	KDM2B_26808549_Chip-Seq_REH_Human	1.11347590
67	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.09830690
68	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.09709376
69	TP53_22573176_ChIP-Seq_HFKS_Human	1.08742959
70	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.08667805
71	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.08369920
72	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.08244500
73	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.07514040
74	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.07339885
75	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.07208365
76	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06840592
77	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.06195754
78	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.05725999
79	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.05352744
80	REST_21632747_ChIP-Seq_MESCs_Mouse	1.05213352
81	SOX2_19829295_ChIP-Seq_ESCs_Human	1.03113072
82	NANOG_19829295_ChIP-Seq_ESCs_Human	1.03113072
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.03083421
84	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.01021467
85	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.00042634
86	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.99460912
87	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.98658712
88	NFYA_21822215_ChIP-Seq_K562_Human	0.98593361
89	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.98564908
90	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98469755
91	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.98392198
92	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.97944044
93	TP53_18474530_ChIP-ChIP_U2OS_Human	0.96891572
94	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.96864114
95	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	0.94380981
96	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.94146634
97	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.94099555
98	NCOR_22424771_ChIP-Seq_293T_Human	0.93503271
99	GF1B_26923725_Chip-Seq_HPCs_Mouse	0.93138888
100	* TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.92892921

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003890_abnormal_embryonic-extraembry	5.46986247
2	MP0003011_delayed_dark_adaptation	3.91431343
3	MP0003252_abnormal_bile_duct	3.66911223
4	MP0002102_abnormal_ear_morphology	3.54549014
5	MP0003880_abnormal_central_pattern	3.25326139
6	MP0008995_early_reproductive_senescence	3.20175923
7	MP0008004_abnormal_stomach_pH	2.92315846
8	MP0003119_abnormal_digestive_system	2.84957571
9	MP0002736_abnormal_nociception_after	2.81651750
10	MP0001986_abnormal_taste_sensitivity	2.42073381
11	MP0004133_heterotaxia	2.28491658
12	MP0009384_cardiac_valve_regurgitation	2.22167729
13	MP0003283_abnormal_digestive_organ	2.13904514
14	MP0001968_abnormal_touch/_nociception	1.93186195
15	MP0006292_abnormal_olfactory_placode	1.91328537
16	MP0005646_abnormal_pituitary_gland	1.89437263
17	MP0005253_abnormal_eye_physiology	1.84603814
18	MP0006072_abnormal_retinal_apoptosis	1.81765966
19	MP0006276_abnormal_autonomic_nervous	1.75211175
20	MP0003195_calcinosis	1.74053024
21	MP0009250_abnormal_appendicular_skeleto	1.61153730
22	MP0003937_abnormal_limbs/digits/tail_de	1.61064780
23	MP0001529_abnormal_vocalization	1.57802882
24	MP0003935_abnormal_craniofacial_develop	1.56505346
25	MP0002084_abnormal_developmental_patter	1.52708038
26	MP0001666_abnormal_nutrient_absorption	1.51683459
27	MP0002282_abnormal_trachea_morphology	1.46769481
28	MP0000049_abnormal_middle_ear	1.45830606
29	MP0004885_abnormal_endolymph	1.44786399
30	MP0004147_increased_porphyrin_level	1.41274440
31	MP0001485_abnormal_pinna_reflex	1.41244757
32	MP0001293_anophthalmia	1.40727459
33	MP0010030_abnormal_orbit_morphology	1.40359826
34	MP0003943_abnormal_hepatobiliary_system	1.39593148
35	MP0005551_abnormal_eye_electrophysiolog	1.38301265
36	MP0006054_spinal_hemorrhage	1.37495302
37	MP0003938_abnormal_ear_development	1.33054193
38	MP0002234_abnormal_pharynx_morphology	1.31350109
39	MP0009745_abnormal_behavioral_response	1.30869622
40	MP0000778_abnormal_nervous_system	1.26475707
41	MP0008877_abnormal_DNA_methylation	1.25921782
42	MP0005423_abnormal_somatic_nervous	1.25758034
43	MP0000631_abnormal_neuroendocrine_gland	1.25089868
44	MP0005391_vision/eye_phenotype	1.24860044
45	MP0002160_abnormal_reproductive_system	1.21887225
46	MP0000569_abnormal_digit_pigmentation	1.21181586
47	MP0000653_abnormal_sex_gland	1.20813587
48	MP0002210_abnormal_sex_determination	1.20639054
49	MP0003936_abnormal_reproductive_system	1.20222183
50	MP0003942_abnormal_urinary_system	1.16940442
51	MP0000427_abnormal_hair_cycle	1.15139558
52	MP0001145_abnormal_male_reproductive	1.13913525
53	MP0002638_abnormal_pupillary_reflex	1.12737413
54	MP0009697_abnormal_copulation	1.11877531
55	MP0005367_renal/urinary_system_phenotyp	1.11167070
56	MP0000516_abnormal_urinary_system	1.11167070
57	MP0005410_abnormal_fertilization	1.10085363
58	MP0000371_diluted_coat_color	1.08987215
59	MP0001119_abnormal_female_reproductive	1.08878038
60	MP0001286_abnormal_eye_development	1.07859353
61	MP0003137_abnormal_impulse_conducting	1.06654827
62	MP0005647_abnormal_sex_gland	1.06550201
63	MP0002932_abnormal_joint_morphology	1.05073320
64	MP0001486_abnormal_startle_reflex	1.00490564
65	MP0000428_abnormal_craniofacial_morphol	0.98738416
66	MP0001501_abnormal_sleep_pattern	0.98430239
67	MP0002109_abnormal_limb_morphology	0.96046309
68	MP0005394_taste/olfaction_phenotype	0.90628504
69	MP0005499_abnormal_olfactory_system	0.90628504
70	MP0002837_dystrophic_cardiac_calcinosis	0.90160270
71	MP0003115_abnormal_respiratory_system	0.89736356
72	MP0002938_white_spotting	0.89002293
73	MP0000383_abnormal_hair_follicle	0.88502312
74	MP0004145_abnormal_muscle_electrophysio	0.88376543
75	MP0002752_abnormal_somatic_nervous	0.86560771
76	MP0003385_abnormal_body_wall	0.86518503
77	MP0003786_premature_aging	0.85892746
78	MP0003698_abnormal_male_reproductive	0.85304696
79	MP0005389_reproductive_system_phenotype	0.84122505
80	MP0002272_abnormal_nervous_system	0.84077763
81	MP0003186_abnormal_redox_activity	0.79287805
82	MP0003121_genomic_imprinting	0.79147650
83	MP0002751_abnormal_autonomic_nervous	0.76123383
84	MP0000026_abnormal_inner_ear	0.74028928
85	MP0002233_abnormal_nose_morphology	0.73755671
86	MP0001929_abnormal_gametogenesis	0.72665788
87	MP0002111_abnormal_tail_morphology	0.72464375
88	MP0002085_abnormal_embryonic_tissue	0.70968592
89	MP0000639_abnormal_adrenal_gland	0.70501800
90	MP0001324_abnormal_eye_pigmentation	0.70207308
91	MP0002161_abnormal_fertility/fecundity	0.69424720
92	MP0003861_abnormal_nervous_system	0.69247273
93	MP0003315_abnormal_perineum_morphology	0.68949396
94	MP0008872_abnormal_physiological_respon	0.68167095
95	MP0009053_abnormal_anal_canal	0.67668800
96	MP0005084_abnormal_gallbladder_morpholo	0.67579184
97	MP0005195_abnormal_posterior_eye	0.67365037
98	MP0002249_abnormal_larynx_morphology	0.64707148
99	MP0001963_abnormal_hearing_physiology	0.64558781
100	MP0002115_abnormal_skeleton_extremities	0.61075707

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Genetic anticipation (HP:0003743)	7.89682829
2	Action tremor (HP:0002345)	6.87737739
3	Progressive cerebellar ataxia (HP:0002073)	5.99546526
4	Dysmetric saccades (HP:0000641)	5.81841151
5	Prostate neoplasm (HP:0100787)	4.76388048
6	Gonadal dysgenesis (HP:0000133)	4.62471063
7	Urinary bladder sphincter dysfunction (HP:0002839)	4.59075215
8	Pendular nystagmus (HP:0012043)	4.49261392
9	Severe visual impairment (HP:0001141)	4.38029761
10	Abnormality of the hepatic vasculature (HP:0006707)	3.98103394
11	Hypochromic microcytic anemia (HP:0004840)	3.70458289
12	Impaired vibratory sensation (HP:0002495)	3.68226522
13	Absence seizures (HP:0002121)	3.66752086
14	Gaze-evoked nystagmus (HP:0000640)	3.55675365
15	Anomalous pulmonary venous return (HP:0010772)	3.52388153
16	Abnormality of macular pigmentation (HP:0008002)	3.42329158
17	Dysdiadochokinesis (HP:0002075)	3.31090018
18	Abnormality of the pulmonary veins (HP:0011718)	3.29859696
19	Postural tremor (HP:0002174)	3.20904075
20	Postural instability (HP:0002172)	2.99583331
21	Focal seizures (HP:0007359)	2.98840915
22	Bilateral microphthalmos (HP:0007633)	2.96466950
23	Dialeptic seizures (HP:0011146)	2.94856834
24	Abnormal pancreas size (HP:0012094)	2.92010923
25	True hermaphroditism (HP:0010459)	2.83829090
26	Slow saccadic eye movements (HP:0000514)	2.81418815
27	Impaired proprioception (HP:0010831)	2.77373823
28	Rib fusion (HP:0000902)	2.74152450
29	Abnormal lung lobation (HP:0002101)	2.69212461
30	Increased corneal curvature (HP:0100692)	2.64632207
31	Keratoconus (HP:0000563)	2.64632207
32	Vitreoretinal degeneration (HP:0000655)	2.60129203
33	Testicular neoplasm (HP:0010788)	2.48607660
34	Nephronophthisis (HP:0000090)	2.48053721
35	Abnormality of the prostate (HP:0008775)	2.45923633
36	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.41573829
37	Impaired smooth pursuit (HP:0007772)	2.38619230
38	Male pseudohermaphroditism (HP:0000037)	2.36125050
39	Limb ataxia (HP:0002070)	2.33799582
40	Hypoplastic left heart (HP:0004383)	2.32411712
41	Chorioretinal atrophy (HP:0000533)	2.23605063
42	Decreased muscle mass (HP:0003199)	2.14606169
43	Absent/shortened dynein arms (HP:0200106)	2.13069739
44	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.13069739
45	Oculomotor apraxia (HP:0000657)	2.11312197
46	Preaxial foot polydactyly (HP:0001841)	2.09229966
47	Disproportionate short-trunk short stature (HP:0003521)	2.08495701
48	Volvulus (HP:0002580)	2.07467664
49	Hip dysplasia (HP:0001385)	2.06041994
50	Stenosis of the external auditory canal (HP:0000402)	2.02091046
51	Anophthalmia (HP:0000528)	2.01990852
52	Severe Myopia (HP:0011003)	2.01902141
53	Abnormality of the aortic arch (HP:0012303)	2.00788465
54	Pancreatic fibrosis (HP:0100732)	1.97265232
55	Abnormality of the renal medulla (HP:0100957)	1.95012839
56	Hypoplastic heart (HP:0001961)	1.94908842
57	Asplenia (HP:0001746)	1.91652755
58	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.90653738
59	Scrotal hypoplasia (HP:0000046)	1.90562469
60	Transposition of the great arteries (HP:0001669)	1.88961966
61	Abnormal connection of the cardiac segments (HP:0011545)	1.88961966
62	Abnormal ventriculo-arterial connection (HP:0011563)	1.88961966
63	Protruding tongue (HP:0010808)	1.88752323
64	Abnormality of male internal genitalia (HP:0000022)	1.88689354
65	Chronic hepatic failure (HP:0100626)	1.88244098
66	Postnatal microcephaly (HP:0005484)	1.88027306
67	Abolished electroretinogram (ERG) (HP:0000550)	1.87556015
68	Abnormality of the renal cortex (HP:0011035)	1.86948095
69	Hyperventilation (HP:0002883)	1.85993238
70	Myokymia (HP:0002411)	1.83867596
71	Pancreatic cysts (HP:0001737)	1.83254960
72	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.83172244
73	Abnormality of the labia minora (HP:0012880)	1.82600866
74	Abnormality of ocular smooth pursuit (HP:0000617)	1.82232627
75	Hypoplastic iliac wings (HP:0002866)	1.81926718
76	Preauricular pit (HP:0004467)	1.80677855
77	Periauricular skin pits (HP:0100277)	1.80677855
78	Decreased central vision (HP:0007663)	1.76735789
79	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.76516515
80	Abnormal respiratory motile cilium physiology (HP:0012261)	1.76135826
81	Retinitis pigmentosa (HP:0000510)	1.74228797
82	Proximal tubulopathy (HP:0000114)	1.74183624
83	Abnormal sex determination (HP:0012244)	1.73403007
84	Sex reversal (HP:0012245)	1.73403007
85	Hyperglycinemia (HP:0002154)	1.72292675
86	Double outlet right ventricle (HP:0001719)	1.71021398
87	Congenital malformation of the right heart (HP:0011723)	1.71021398
88	Short tibia (HP:0005736)	1.70366463
89	Focal motor seizures (HP:0011153)	1.70321540
90	Atonic seizures (HP:0010819)	1.68722334
91	Areflexia of lower limbs (HP:0002522)	1.68611621
92	Truncus arteriosus (HP:0001660)	1.67659371
93	Renal cortical cysts (HP:0000803)	1.67008738
94	Hyperglycinuria (HP:0003108)	1.66180505
95	Short hallux (HP:0010109)	1.66127775
96	Anencephaly (HP:0002323)	1.65800935
97	Hypochromic anemia (HP:0001931)	1.65734074
98	Small hand (HP:0200055)	1.64966623
99	Clumsiness (HP:0002312)	1.64823176
100	Septo-optic dysplasia (HP:0100842)	1.64233497

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK19	9.16663216
2	OXSR1	4.83094653
3	FRK	4.25258332
4	ACVR1B	3.40353564
5	BMPR1B	3.36589286
6	MKNK2	2.20577656
7	PLK4	2.05796983
8	GRK1	1.95416135
9	TNK2	1.82659310
10	MAP3K7	1.82165512
11	TRIM28	1.63866564
12	WNK3	1.61976178
13	MAP3K4	1.61298765
14	PINK1	1.59315216
15	TGFBR1	1.58833574
16	TNIK	1.56219433
17	PNCK	1.55529946
18	MAP4K2	1.50666146
19	MKNK1	1.42720335
20	BRD4	1.39617916
21	MAPK13	1.25181848
22	CDK3	1.21589582
23	PBK	1.14494598
24	NUAK1	1.08334287
25	TXK	1.04175436
26	ADRBK2	1.00554362
27	CASK	0.95097790
28	BCR	0.93770128
29	STK38	0.93142666
30	DYRK2	0.91942756
31	ADRBK1	0.87957951
32	MATK	0.84615428
33	ALK	0.84356510
34	NTRK3	0.82625975
35	STK3	0.79765369
36	MAP2K7	0.79746705
37	EIF2AK1	0.79613269
38	ERBB4	0.76421818
39	RPS6KB2	0.73612862
40	STK38L	0.72171880
41	RPS6KA4	0.71969431
42	OBSCN	0.70331502
43	WEE1	0.68345840
44	DAPK2	0.66396388
45	STK11	0.65472742
46	CDK4	0.64982147
47	INSRR	0.61589212
48	MAPK7	0.61283207
49	DYRK1A	0.61031191
50	CSNK1G1	0.57325406
51	PLK2	0.53749999
52	MINK1	0.50749508
53	PRKD3	0.49333104
54	TIE1	0.48839112
55	BRSK2	0.48828519
56	CDK8	0.47268631
57	FGFR1	0.46241927
58	MAP2K4	0.45136340
59	ZAK	0.43781667
60	STK10	0.43735384
61	ERBB3	0.42673008
62	CHEK2	0.42325423
63	YES1	0.41595232
64	FER	0.41294435
65	SGK494	0.40380329
66	SGK223	0.40380329
67	SGK2	0.39358136
68	TAOK3	0.39033519
69	CSNK1G2	0.38077350
70	EIF2AK3	0.37388244
71	PRKAA2	0.35759587
72	WNK4	0.35034051
73	MAP3K12	0.33875124
74	SGK1	0.33441608
75	STK4	0.33165360
76	VRK1	0.31902114
77	CHEK1	0.31657382
78	TAF1	0.31218236
79	PRKACA	0.30499103
80	MAP3K9	0.29584418
81	AKT3	0.28993984
82	NEK2	0.28509937
83	CDK18	0.28428949
84	PRKG1	0.28333688
85	NLK	0.26978253
86	CDK15	0.25468585
87	LRRK2	0.25155930
88	PRKCG	0.24650766
89	PRKD2	0.24430477
90	RPS6KA6	0.24236702
91	DYRK3	0.23994483
92	PRKG2	0.23407682
93	IRAK2	0.22516593
94	PRKCE	0.21441600
95	CDK11A	0.21434190
96	MAPK15	0.20981872
97	ATR	0.20676662
98	CSNK1A1	0.19998526
99	PRKCH	0.19766936
100	TEC	0.18779861

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Primary bile acid biosynthesis_Homo sapiens_hsa00120	5.76439502
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.94001366
3	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.54916914
4	Butanoate metabolism_Homo sapiens_hsa00650	3.05412697
5	Olfactory transduction_Homo sapiens_hsa04740	2.99643288
6	Propanoate metabolism_Homo sapiens_hsa00640	2.58414142
7	Hedgehog signaling pathway_Homo sapiens_hsa04340	2.33065467
8	Basal cell carcinoma_Homo sapiens_hsa05217	2.15201147
9	Retinol metabolism_Homo sapiens_hsa00830	1.87326564
10	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.86930710
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.86112413
12	Caffeine metabolism_Homo sapiens_hsa00232	1.76777607
13	Tryptophan metabolism_Homo sapiens_hsa00380	1.74740840
14	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.73600007
15	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.71078522
16	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.66233702
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.62837725
18	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.62044719
19	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.56698298
20	Ether lipid metabolism_Homo sapiens_hsa00565	1.45433581
21	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.43163274
22	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.34529802
23	Fanconi anemia pathway_Homo sapiens_hsa03460	1.33815203
24	Homologous recombination_Homo sapiens_hsa03440	1.32627680
25	Non-homologous end-joining_Homo sapiens_hsa03450	1.28413425
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.24665246
27	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.24438234
28	Chemical carcinogenesis_Homo sapiens_hsa05204	1.22010500
29	RNA polymerase_Homo sapiens_hsa03020	1.18689314
30	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.18555090
31	Phototransduction_Homo sapiens_hsa04744	1.16499339
32	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.15142768
33	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.14994803
34	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.08678556
35	Fatty acid degradation_Homo sapiens_hsa00071	1.05161066
36	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.03376199
37	Basal transcription factors_Homo sapiens_hsa03022	0.98114740
38	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.97333298
39	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.96730160
40	Wnt signaling pathway_Homo sapiens_hsa04310	0.94613869
41	Hippo signaling pathway_Homo sapiens_hsa04390	0.92556393
42	Circadian rhythm_Homo sapiens_hsa04710	0.90102461
43	Taste transduction_Homo sapiens_hsa04742	0.90050477
44	Pyruvate metabolism_Homo sapiens_hsa00620	0.89720520
45	Salivary secretion_Homo sapiens_hsa04970	0.87404907
46	Circadian entrainment_Homo sapiens_hsa04713	0.87007689
47	RNA degradation_Homo sapiens_hsa03018	0.86916905
48	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.86536260
49	Glutamatergic synapse_Homo sapiens_hsa04724	0.83474479
50	Morphine addiction_Homo sapiens_hsa05032	0.83214419
51	Protein export_Homo sapiens_hsa03060	0.83175058
52	Ribosome_Homo sapiens_hsa03010	0.82641851
53	Purine metabolism_Homo sapiens_hsa00230	0.77806183
54	Nicotine addiction_Homo sapiens_hsa05033	0.77022025
55	cAMP signaling pathway_Homo sapiens_hsa04024	0.75980998
56	ABC transporters_Homo sapiens_hsa02010	0.72529186
57	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.71620681
58	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.71104431
59	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.68977708
60	Glycerolipid metabolism_Homo sapiens_hsa00561	0.67029209
61	Lysine degradation_Homo sapiens_hsa00310	0.66542902
62	Gastric acid secretion_Homo sapiens_hsa04971	0.66030054
63	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.64581095
64	Peroxisome_Homo sapiens_hsa04146	0.63143273
65	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.62536749
66	Glutathione metabolism_Homo sapiens_hsa00480	0.62214853
67	Axon guidance_Homo sapiens_hsa04360	0.61641081
68	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.61329535
69	beta-Alanine metabolism_Homo sapiens_hsa00410	0.61062344
70	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.59892282
71	PPAR signaling pathway_Homo sapiens_hsa03320	0.57178300
72	GABAergic synapse_Homo sapiens_hsa04727	0.56905563
73	Melanogenesis_Homo sapiens_hsa04916	0.56390648
74	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.54848270
75	Nitrogen metabolism_Homo sapiens_hsa00910	0.54181190
76	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.53810083
77	Fat digestion and absorption_Homo sapiens_hsa04975	0.52528064
78	Nucleotide excision repair_Homo sapiens_hsa03420	0.50176151
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.48150341
80	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.47591917
81	Fatty acid metabolism_Homo sapiens_hsa01212	0.46007192
82	Steroid biosynthesis_Homo sapiens_hsa00100	0.43883661
83	Serotonergic synapse_Homo sapiens_hsa04726	0.43735798
84	Cell cycle_Homo sapiens_hsa04110	0.43182738
85	Rap1 signaling pathway_Homo sapiens_hsa04015	0.42458474
86	Metabolic pathways_Homo sapiens_hsa01100	0.42215076
87	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.40845215
88	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.39480286
89	Cholinergic synapse_Homo sapiens_hsa04725	0.39231686
90	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.36247367
91	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.34777445
92	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.34764056
93	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.34104165
94	Protein digestion and absorption_Homo sapiens_hsa04974	0.33693481
95	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.31366392
96	Long-term depression_Homo sapiens_hsa04730	0.30152309
97	Melanoma_Homo sapiens_hsa05218	0.26295294
98	Insulin secretion_Homo sapiens_hsa04911	0.25414725
99	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.24418733
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.23199882

COL6A4P2

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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