ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	single strand break repair (GO:0000012)	7.79079349
2	hindbrain development (GO:0030902)	7.53400998
3	cilium or flagellum-dependent cell motility (GO:0001539)	7.49800087
4	cellular response to ATP (GO:0071318)	6.40306101
5	regulation of synapse maturation (GO:0090128)	6.29758631
6	negative regulation of translation, ncRNA-mediated (GO:0040033)	6.20986939
7	regulation of translation, ncRNA-mediated (GO:0045974)	6.20986939
8	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	6.20986939
9	seminiferous tubule development (GO:0072520)	6.01219201
10	positive regulation of synapse maturation (GO:0090129)	5.97514872
11	uterus development (GO:0060065)	5.97514798
12	positive regulation of inositol phosphate biosynthetic process (GO:0060732)	5.90361905
13	axonemal dynein complex assembly (GO:0070286)	5.58141121
14	response to pheromone (GO:0019236)	4.95840175
15	tongue development (GO:0043586)	4.91541561
16	negative regulation of smooth muscle cell differentiation (GO:0051151)	4.83545002
17	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	4.83192095
18	regulation of bile acid biosynthetic process (GO:0070857)	4.75316495
19	regulation of inositol phosphate biosynthetic process (GO:0010919)	4.74622940
20	neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)	4.57606785
21	prostate gland growth (GO:0060736)	4.42634782
22	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	4.35410068
23	protein localization to synapse (GO:0035418)	4.12671465
24	auditory behavior (GO:0031223)	4.04774449
25	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	3.98122874
26	chemosensory behavior (GO:0007635)	3.94997976
27	centriole replication (GO:0007099)	3.93080185
28	positive regulation of cAMP-mediated signaling (GO:0043950)	3.89841206
29	lung vasculature development (GO:0060426)	3.88189754
30	primary amino compound metabolic process (GO:1901160)	3.85614281
31	negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	3.84277047
32	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	3.81099607
33	protein targeting to lysosome (GO:0006622)	3.73644340
34	establishment of protein localization to vacuole (GO:0072666)	3.73644340
35	protein targeting to vacuole (GO:0006623)	3.73644340
36	lung lobe morphogenesis (GO:0060463)	3.68967059
37	detection of mechanical stimulus involved in sensory perception (GO:0050974)	3.64399178
38	lipid translocation (GO:0034204)	3.57381626
39	phospholipid translocation (GO:0045332)	3.57381626
40	regulation of establishment or maintenance of cell polarity (GO:0032878)	3.42431054
41	methionine biosynthetic process (GO:0009086)	3.42254410
42	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.41571165
43	spinal cord development (GO:0021510)	3.39736543
44	histone H2B ubiquitination (GO:0033523)	3.35190950
45	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.33340099
46	organ induction (GO:0001759)	3.33033796
47	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.27564832
48	peripheral nervous system development (GO:0007422)	3.23218302
49	regulation of gene silencing by RNA (GO:0060966)	3.21946524
50	regulation of posttranscriptional gene silencing (GO:0060147)	3.21946524
51	regulation of gene silencing by miRNA (GO:0060964)	3.21946524
52	cell differentiation involved in metanephros development (GO:0072202)	3.19591581
53	central nervous system projection neuron axonogenesis (GO:0021952)	3.17070409
54	tryptophan catabolic process (GO:0006569)	3.15227102
55	indole-containing compound catabolic process (GO:0042436)	3.15227102
56	indolalkylamine catabolic process (GO:0046218)	3.15227102
57	limb bud formation (GO:0060174)	3.15003600
58	cAMP catabolic process (GO:0006198)	3.12826319
59	neurogenesis (GO:0022008)	3.11984560
60	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.09435189
61	startle response (GO:0001964)	3.05315723
62	neuron maturation (GO:0042551)	3.03125611
63	central nervous system neuron axonogenesis (GO:0021955)	3.02231191
64	serotonin metabolic process (GO:0042428)	2.98292366
65	inner ear receptor stereocilium organization (GO:0060122)	2.94676562
66	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.92553482
67	protein localization to lysosome (GO:0061462)	2.90516710
68	protein localization to vacuole (GO:0072665)	2.90516710
69	regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)	2.90091510
70	cyclic nucleotide catabolic process (GO:0009214)	2.89836049
71	interkinetic nuclear migration (GO:0022027)	2.89736996
72	TOR signaling (GO:0031929)	2.89712923
73	positive regulation of T-helper 1 type immune response (GO:0002827)	2.87996377
74	regulation of cilium movement (GO:0003352)	2.87565524
75	histone H4-K12 acetylation (GO:0043983)	2.85812529
76	regulation of steroid hormone biosynthetic process (GO:0090030)	2.84627355
77	amino acid salvage (GO:0043102)	2.81513633
78	L-methionine salvage (GO:0071267)	2.81513633
79	L-methionine biosynthetic process (GO:0071265)	2.81513633
80	negative regulation of Ras GTPase activity (GO:0034261)	2.81469372
81	positive regulation of mRNA metabolic process (GO:1903313)	2.79385244
82	positive regulation of synapse assembly (GO:0051965)	2.78971787
83	embryonic skeletal joint morphogenesis (GO:0060272)	2.78304109
84	negative regulation of ERK1 and ERK2 cascade (GO:0070373)	2.76345841
85	regulation of memory T cell differentiation (GO:0043380)	2.76309263
86	T cell lineage commitment (GO:0002360)	2.75416591
87	organ growth (GO:0035265)	2.74189899
88	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	2.71233141
89	negative regulation of membrane potential (GO:0045837)	2.71160405
90	kynurenine metabolic process (GO:0070189)	2.69749773
91	rRNA transcription (GO:0009303)	2.67639920
92	response to ATP (GO:0033198)	2.66945327
93	regulation of G0 to G1 transition (GO:0070316)	2.66265706
94	tryptophan metabolic process (GO:0006568)	2.66224108
95	negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	2.65801573
96	activation of MAPKKK activity (GO:0000185)	2.63327351
97	transcription elongation from RNA polymerase I promoter (GO:0006362)	2.62333885
98	positive regulation of mRNA 3-end processing (GO:0031442)	2.61340153
99	neuronal action potential (GO:0019228)	2.60840160
100	L-fucose metabolic process (GO:0042354)	2.60435859

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.19880073
2	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.90321977
3	TP53_16413492_ChIP-PET_HCT116_Human	2.70676422
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.63459934
5	VDR_22108803_ChIP-Seq_LS180_Human	2.61171848
6	TAF15_26573619_Chip-Seq_HEK293_Human	2.55833096
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.50929680
8	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.45042989
9	IRF1_19129219_ChIP-ChIP_H3396_Human	2.38843250
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.15007190
11	EZH2_22144423_ChIP-Seq_EOC_Human	2.05289342
12	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.03991506
13	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.03970530
14	EWS_26573619_Chip-Seq_HEK293_Human	1.98031613
15	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.91765735
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.91533343
17	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.85592341
18	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.85261028
19	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.82442943
20	P300_19829295_ChIP-Seq_ESCs_Human	1.78727939
21	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.68084468
22	STAT3_23295773_ChIP-Seq_U87_Human	1.67523989
23	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.66699021
24	IGF1R_20145208_ChIP-Seq_DFB_Human	1.64508655
25	FUS_26573619_Chip-Seq_HEK293_Human	1.64079253
26	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.62986783
27	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.58753913
28	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.57193571
29	KDM2B_26808549_Chip-Seq_REH_Human	1.55407427
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.53567353
31	BCAT_22108803_ChIP-Seq_LS180_Human	1.52965931
32	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.51828297
33	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.50349872
34	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.48533868
35	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.47710398
36	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.47058620
37	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.46588039
38	SMAD4_21799915_ChIP-Seq_A2780_Human	1.44983678
39	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.44608298
40	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.40291516
41	AR_25329375_ChIP-Seq_VCAP_Human	1.39947648
42	ZNF274_21170338_ChIP-Seq_K562_Hela	1.37994579
43	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.37491811
44	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.35275299
45	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.35275299
46	TCF4_23295773_ChIP-Seq_U87_Human	1.34799721
47	ER_23166858_ChIP-Seq_MCF-7_Human	1.34361610
48	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.33817763
49	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.32870067
50	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.32622136
51	DROSHA_22980978_ChIP-Seq_HELA_Human	1.31070786
52	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.28557193
53	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.27170185
54	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.26226998
55	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.26153047
56	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.26091888
57	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.26091888
58	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.25609375
59	AR_21572438_ChIP-Seq_LNCaP_Human	1.23787902
60	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.23297706
61	RNF2_27304074_Chip-Seq_NSC_Mouse	1.22834887
62	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.22793113
63	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.22268039
64	AHR_22903824_ChIP-Seq_MCF-7_Human	1.19852967
65	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.19653417
66	CBP_20019798_ChIP-Seq_JUKART_Human	1.19401458
67	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.19401458
68	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16900206
69	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.14434217
70	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.13122468
71	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.13095511
72	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.13013503
73	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.12923390
74	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.12434294
75	RUNX2_22187159_ChIP-Seq_PCA_Human	1.12139208
76	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.11165455
77	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.10587916
78	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.10174053
79	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.09309735
80	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.08946150
81	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08574507
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.08026779
83	TP53_18474530_ChIP-ChIP_U2OS_Human	1.06685615
84	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.06603342
85	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.06603342
86	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.06551521
87	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.06212578
88	CJUN_26792858_Chip-Seq_BT549_Human	1.05090066
89	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.04437067
90	JUN_21703547_ChIP-Seq_K562_Human	1.04312763
91	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04101549
92	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.03019759
93	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.02545487
94	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.02418771
95	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.01809781
96	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.01754129
97	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.00832077
98	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.00781381
99	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.00302681
100	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.00045977

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	6.22506577
2	MP0002735_abnormal_chemical_nociception	4.85106423
3	MP0002009_preneoplasia	4.67581653
4	MP0005187_abnormal_penis_morphology	3.88204306
5	MP0003868_abnormal_feces_composition	3.59618159
6	MP0005503_abnormal_tendon_morphology	3.53466866
7	MP0003787_abnormal_imprinting	3.43775048
8	MP0001968_abnormal_touch/_nociception	2.60124909
9	MP0000427_abnormal_hair_cycle	2.42670182
10	MP0003315_abnormal_perineum_morphology	2.40935208
11	MP0003195_calcinosis	2.32557893
12	MP0001666_abnormal_nutrient_absorption	2.31596899
13	MP0005275_abnormal_skin_tensile	2.31576476
14	MP0005220_abnormal_exocrine_pancreas	2.25013352
15	MP0008438_abnormal_cutaneous_collagen	2.21908152
16	MP0004924_abnormal_behavior	2.08753710
17	MP0005386_behavior/neurological_phenoty	2.08753710
18	MP0002933_joint_inflammation	2.01943206
19	MP0001919_abnormal_reproductive_system	2.00812257
20	MP0009384_cardiac_valve_regurgitation	1.98030649
21	MP0001299_abnormal_eye_distance/	1.95588923
22	MP0002234_abnormal_pharynx_morphology	1.92548458
23	MP0003121_genomic_imprinting	1.88802667
24	MP0003866_abnormal_defecation	1.87043248
25	MP0005389_reproductive_system_phenotype	1.86309973
26	MP0001440_abnormal_grooming_behavior	1.75061352
27	MP0008872_abnormal_physiological_respon	1.73475931
28	MP0004133_heterotaxia	1.72162979
29	MP0009840_abnormal_foam_cell	1.62645538
30	MP0004484_altered_response_of	1.62232547
31	MP0000470_abnormal_stomach_morphology	1.54788065
32	MP0003283_abnormal_digestive_organ	1.50705323
33	MP0008057_abnormal_DNA_replication	1.49857447
34	MP0001501_abnormal_sleep_pattern	1.49730091
35	MP0003119_abnormal_digestive_system	1.42825334
36	MP0005334_abnormal_fat_pad	1.37044292
37	MP0010386_abnormal_urinary_bladder	1.34867667
38	MP0003786_premature_aging	1.27344124
39	MP0010329_abnormal_lipoprotein_level	1.27319893
40	MP0009250_abnormal_appendicular_skeleto	1.27287020
41	MP0008775_abnormal_heart_ventricle	1.26860833
42	MP0002108_abnormal_muscle_morphology	1.26342892
43	MP0001542_abnormal_bone_strength	1.22662455
44	MP0002166_altered_tumor_susceptibility	1.16028823
45	MP0005646_abnormal_pituitary_gland	1.15187194
46	MP0005647_abnormal_sex_gland	1.13294709
47	MP0006054_spinal_hemorrhage	1.12264009
48	MP0000538_abnormal_urinary_bladder	1.10630682
49	MP0009697_abnormal_copulation	1.05410232
50	MP0004145_abnormal_muscle_electrophysio	1.05034445
51	MP0004043_abnormal_pH_regulation	1.05003340
52	MP0009053_abnormal_anal_canal	1.04958930
53	MP0009703_decreased_birth_body	1.03268408
54	MP0003959_abnormal_lean_body	1.03112124
55	MP0000534_abnormal_ureter_morphology	1.01308826
56	MP0000516_abnormal_urinary_system	0.99530976
57	MP0005367_renal/urinary_system_phenotyp	0.99530976
58	MP0002557_abnormal_social/conspecific_i	0.95860175
59	MP0000372_irregular_coat_pigmentation	0.93417813
60	MP0008789_abnormal_olfactory_epithelium	0.92049026
61	MP0003633_abnormal_nervous_system	0.89443402
62	MP0001486_abnormal_startle_reflex	0.87310074
63	MP0004134_abnormal_chest_morphology	0.84991901
64	MP0002160_abnormal_reproductive_system	0.84850863
65	MP0004147_increased_porphyrin_level	0.83683050
66	MP0005171_absent_coat_pigmentation	0.76669101
67	MP0000163_abnormal_cartilage_morphology	0.75456162
68	MP0003111_abnormal_nucleus_morphology	0.74594146
69	MP0002168_other_aberrant_phenotype	0.73105290
70	MP0002734_abnormal_mechanical_nocicepti	0.72174983
71	MP0001664_abnormal_digestion	0.71486376
72	MP0003436_decreased_susceptibility_to	0.68924562
73	MP0000762_abnormal_tongue_morphology	0.68311036
74	MP0002136_abnormal_kidney_physiology	0.67464462
75	MP0001873_stomach_inflammation	0.67162696
76	MP0002090_abnormal_vision	0.66482166
77	MP0001324_abnormal_eye_pigmentation	0.65120359
78	MP0002006_tumorigenesis	0.64829917
79	MP0002102_abnormal_ear_morphology	0.64352942
80	MP0003942_abnormal_urinary_system	0.64250048
81	MP0009745_abnormal_behavioral_response	0.64243213
82	MP0002272_abnormal_nervous_system	0.63807648
83	MP0008058_abnormal_DNA_repair	0.62326561
84	MP0002233_abnormal_nose_morphology	0.61404228
85	MP0002089_abnormal_postnatal_growth/wei	0.61292864
86	MP0002135_abnormal_kidney_morphology	0.60976253
87	MP0005551_abnormal_eye_electrophysiolog	0.60217856
88	MP0002109_abnormal_limb_morphology	0.59546748
89	MP0000490_abnormal_crypts_of	0.59291206
90	MP0002733_abnormal_thermal_nociception	0.59081230
91	MP0004885_abnormal_endolymph	0.57515375
92	MP0005390_skeleton_phenotype	0.57464578
93	MP0005365_abnormal_bile_salt	0.54273751
94	MP0002067_abnormal_sensory_capabilities	0.54085666
95	MP0002116_abnormal_craniofacial_bone	0.53962481
96	MP0001533_abnormal_skeleton_physiology	0.53180227
97	MP0002572_abnormal_emotion/affect_behav	0.52576287
98	MP0002115_abnormal_skeleton_extremities	0.51429289
99	MP0003631_nervous_system_phenotype	0.51412747
100	MP0003252_abnormal_bile_duct	0.50718278

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Chronic otitis media (HP:0000389)	9.50257013
2	Abnormal respiratory motile cilium morphology (HP:0005938)	6.16792646
3	Abnormal respiratory epithelium morphology (HP:0012253)	6.16792646
4	Chronic sinusitis (HP:0011109)	5.97130668
5	Protruding tongue (HP:0010808)	5.84123252
6	Hyperventilation (HP:0002883)	5.48104903
7	Enlarged penis (HP:0000040)	4.83360831
8	Clumsiness (HP:0002312)	4.82474822
9	Gonadotropin excess (HP:0000837)	4.48164508
10	Action tremor (HP:0002345)	4.30018609
11	Macroorchidism (HP:0000053)	3.93322144
12	Dyschromatopsia (HP:0007641)	3.72683844
13	Tented upper lip vermilion (HP:0010804)	3.70438285
14	Broad-based gait (HP:0002136)	3.67483157
15	Recurrent sinusitis (HP:0011108)	3.49035771
16	Drooling (HP:0002307)	3.42781903
17	Hypoalphalipoproteinemia (HP:0003233)	3.20840608
18	Excessive salivation (HP:0003781)	3.20608980
19	Hyperlipoproteinemia (HP:0010980)	3.18585349
20	Thyroid-stimulating hormone excess (HP:0002925)	3.05997117
21	Hypergonadotropic hypogonadism (HP:0000815)	2.93925809
22	Volvulus (HP:0002580)	2.87291815
23	Radial bowing (HP:0002986)	2.81421002
24	Infantile muscular hypotonia (HP:0008947)	2.67763748
25	Pancreatic cysts (HP:0001737)	2.63103944
26	Hypoplasia of the uterus (HP:0000013)	2.59070808
27	Depressed nasal tip (HP:0000437)	2.52489431
28	Soft skin (HP:0000977)	2.50708323
29	Pancreatic fibrosis (HP:0100732)	2.45704031
30	Submucous cleft hard palate (HP:0000176)	2.44467398
31	Exotropia (HP:0000577)	2.41094835
32	Wrist flexion contracture (HP:0001239)	2.39329524
33	Neonatal onset (HP:0003623)	2.39228296
34	Hypothermia (HP:0002045)	2.38788514
35	Curly hair (HP:0002212)	2.36856702
36	Insidious onset (HP:0003587)	2.36817789
37	Termporal pattern (HP:0011008)	2.36817789
38	Abnormality of salivation (HP:0100755)	2.35687104
39	Febrile seizures (HP:0002373)	2.29078974
40	Abnormality of the nasal septum (HP:0000419)	2.28893645
41	Aplastic anemia (HP:0001915)	2.26566425
42	Fair hair (HP:0002286)	2.26348316
43	Progressive visual loss (HP:0000529)	2.17173962
44	Hip contracture (HP:0003273)	2.16768607
45	Short chin (HP:0000331)	2.16512643
46	Ulnar bowing (HP:0003031)	2.15258662
47	Absent frontal sinuses (HP:0002688)	2.13475065
48	Small hand (HP:0200055)	2.11558436
49	Aortic dissection (HP:0002647)	2.06782350
50	True hermaphroditism (HP:0010459)	2.05173912
51	Arthropathy (HP:0003040)	2.03967974
52	Aplasia/hypoplasia of the uterus (HP:0008684)	2.03253075
53	Increased density of long bones (HP:0006392)	2.02776212
54	Hypochromic microcytic anemia (HP:0004840)	2.00950382
55	Urethral obstruction (HP:0000796)	1.99028686
56	Intellectual disability, progressive (HP:0006887)	1.98930768
57	Bell-shaped thorax (HP:0001591)	1.97088881
58	Abnormality of homocysteine metabolism (HP:0010919)	1.96509425
59	Homocystinuria (HP:0002156)	1.96509425
60	Atonic seizures (HP:0010819)	1.95596664
61	Inappropriate behavior (HP:0000719)	1.94133474
62	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.87698848
63	Widely spaced teeth (HP:0000687)	1.87283137
64	Keratoconus (HP:0000563)	1.86579010
65	Increased corneal curvature (HP:0100692)	1.86579010
66	Osteomalacia (HP:0002749)	1.78534954
67	Blue irides (HP:0000635)	1.78408779
68	Limited hip movement (HP:0008800)	1.77670282
69	Abnormality of the pericardium (HP:0001697)	1.77086214
70	Bilateral microphthalmos (HP:0007633)	1.75103666
71	Abnormality of the renal cortex (HP:0011035)	1.74167369
72	Cystic liver disease (HP:0006706)	1.74146934
73	Abnormal biliary tract physiology (HP:0012439)	1.73995295
74	Bile duct proliferation (HP:0001408)	1.73995295
75	Intellectual disability, severe (HP:0010864)	1.73083726
76	Abnormality of the ischium (HP:0003174)	1.71336164
77	Abnormality of secondary sexual hair (HP:0009888)	1.69727627
78	Abnormality of the axillary hair (HP:0100134)	1.69727627
79	Pulmonic stenosis (HP:0001642)	1.69511761
80	Hypoplastic ischia (HP:0003175)	1.69414413
81	Abnormality of DNA repair (HP:0003254)	1.65948355
82	Gastrointestinal infarctions (HP:0005244)	1.65900487
83	Abnormality of the frontal sinuses (HP:0002687)	1.65493141
84	Bulbous nose (HP:0000414)	1.65121780
85	Male pseudohermaphroditism (HP:0000037)	1.64194661
86	Aplasia/Hypoplasia of the patella (HP:0006498)	1.63711115
87	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.63383115
88	Abnormality of alanine metabolism (HP:0010916)	1.63383115
89	Hyperalaninemia (HP:0003348)	1.63383115
90	Lymphangioma (HP:0100764)	1.62718955
91	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.62393243
92	Patellar aplasia (HP:0006443)	1.62356449
93	Tapered finger (HP:0001182)	1.61756400
94	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.59135783
95	Generalized hypopigmentation of hair (HP:0011358)	1.58811620
96	Flat occiput (HP:0005469)	1.55488092
97	Renovascular hypertension (HP:0100817)	1.55462725
98	Hypolipoproteinemia (HP:0010981)	1.53932562
99	Stomach cancer (HP:0012126)	1.53727891
100	Short foot (HP:0001773)	1.53688218

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CASK	6.47947842
2	RIPK1	6.07258233
3	ACVR1B	4.54327555
4	FRK	4.44645145
5	INSRR	4.37693119
6	AKT3	3.85329823
7	TLK1	3.07739207
8	NTRK2	2.70033098
9	PLK4	2.69865146
10	BMPR1B	2.48189253
11	MAP4K1	2.05598092
12	STK39	1.99424550
13	ICK	1.94386358
14	MAP3K13	1.63318326
15	EPHB1	1.37061793
16	MELK	1.36695882
17	MAP3K11	1.36490541
18	PINK1	1.33643153
19	OXSR1	1.20061921
20	RIPK4	1.18816446
21	WNK4	1.14308153
22	PKN2	1.05256094
23	MAP3K4	1.03619157
24	PHKG1	1.02479311
25	PHKG2	1.02479311
26	TGFBR2	1.00518300
27	DAPK2	1.00376255
28	SGK2	0.97668300
29	FLT3	0.97121731
30	TGFBR1	0.95724705
31	ZAK	0.92196855
32	GRK1	0.87929984
33	ADRBK2	0.84125570
34	LMTK2	0.79604023
35	CCNB1	0.79041905
36	CSF1R	0.68787797
37	MARK1	0.68178168
38	PRKCE	0.67710106
39	NEK2	0.64772801
40	NEK9	0.60763927
41	DYRK3	0.60730132
42	PLK2	0.60497893
43	NUAK1	0.59410017
44	HIPK2	0.57891688
45	SGK3	0.57755359
46	TEC	0.55973241
47	SIK1	0.55061723
48	CAMKK2	0.54420708
49	PTK6	0.50112399
50	RPS6KA4	0.48147555
51	TRPM7	0.46577175
52	NTRK3	0.45953025
53	MET	0.45512433
54	PIK3CG	0.45340529
55	MAP2K2	0.45192956
56	MARK3	0.44858718
57	SGK223	0.43813013
58	SGK494	0.43813013
59	PRKCQ	0.43805801
60	PTK2B	0.41924508
61	FGFR2	0.41917023
62	ERBB3	0.41358018
63	TIE1	0.41133495
64	RET	0.40526239
65	PRKG1	0.39822952
66	RPS6KB1	0.39561151
67	ITK	0.38398031
68	WNK1	0.38252821
69	SCYL2	0.36561174
70	BMPR2	0.36092979
71	IKBKB	0.35726707
72	CAMK2A	0.35110013
73	SIK2	0.34084196
74	WNK3	0.33207548
75	PRKD2	0.31482892
76	RPS6KA2	0.30613086
77	MARK2	0.30472441
78	BRAF	0.30102427
79	MAPK13	0.29613122
80	SIK3	0.28960813
81	MAP3K14	0.27301226
82	LATS1	0.26920370
83	SGK1	0.26461755
84	MKNK2	0.26439971
85	DAPK1	0.26108210
86	ADRBK1	0.25005682
87	PLK1	0.23290963
88	IRAK1	0.23109997
89	PAK3	0.21893095
90	MAPK11	0.21375497
91	PRKAA2	0.20955877
92	RPS6KA6	0.20866534
93	TNK2	0.20492997
94	PRKCG	0.19932589
95	MAPK7	0.18864752
96	IGF1R	0.18299166
97	MTOR	0.18002084
98	PRKACA	0.17786500
99	MAP3K7	0.16668200
100	RPS6KA3	0.15589842

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	4.33378859
2	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.57536924
3	Caffeine metabolism_Homo sapiens_hsa00232	3.39865536
4	ABC transporters_Homo sapiens_hsa02010	3.09965100
5	Sulfur relay system_Homo sapiens_hsa04122	2.73845417
6	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.14898416
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.12292606
8	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.91541253
9	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.80734380
10	RNA polymerase_Homo sapiens_hsa03020	1.77558942
11	Taste transduction_Homo sapiens_hsa04742	1.75543166
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.75231445
13	Fanconi anemia pathway_Homo sapiens_hsa03460	1.66184270
14	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.58591460
15	Circadian rhythm_Homo sapiens_hsa04710	1.57924430
16	Nicotine addiction_Homo sapiens_hsa05033	1.55338622
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.53175349
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.42809669
19	Homologous recombination_Homo sapiens_hsa03440	1.42426951
20	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.39119620
21	Folate biosynthesis_Homo sapiens_hsa00790	1.37549025
22	mTOR signaling pathway_Homo sapiens_hsa04150	1.29984791
23	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.28344710
24	Morphine addiction_Homo sapiens_hsa05032	1.08845705
25	Renin secretion_Homo sapiens_hsa04924	1.08037656
26	Insulin secretion_Homo sapiens_hsa04911	1.07265531
27	Phototransduction_Homo sapiens_hsa04744	1.05458937
28	FoxO signaling pathway_Homo sapiens_hsa04068	1.04333436
29	Lysine degradation_Homo sapiens_hsa00310	1.03968836
30	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.02503738
31	Circadian entrainment_Homo sapiens_hsa04713	1.00480064
32	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.00165674
33	Pancreatic secretion_Homo sapiens_hsa04972	0.97914181
34	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.94662504
35	Calcium signaling pathway_Homo sapiens_hsa04020	0.94360980
36	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.92216519
37	Insulin resistance_Homo sapiens_hsa04931	0.87651105
38	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.87366378
39	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.86131786
40	Long-term depression_Homo sapiens_hsa04730	0.84390082
41	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.84142332
42	Melanoma_Homo sapiens_hsa05218	0.83214894
43	Bile secretion_Homo sapiens_hsa04976	0.82753837
44	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.82135354
45	TNF signaling pathway_Homo sapiens_hsa04668	0.81308399
46	Gastric acid secretion_Homo sapiens_hsa04971	0.80549036
47	Salivary secretion_Homo sapiens_hsa04970	0.79368013
48	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.78687312
49	Sphingolipid metabolism_Homo sapiens_hsa00600	0.76733188
50	Ether lipid metabolism_Homo sapiens_hsa00565	0.75653041
51	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.75381149
52	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.75292344
53	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.71081964
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.68742129
55	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.68113469
56	Glutamatergic synapse_Homo sapiens_hsa04724	0.67148821
57	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.66647294
58	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.66487907
59	Tryptophan metabolism_Homo sapiens_hsa00380	0.66440407
60	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.66062705
61	Non-homologous end-joining_Homo sapiens_hsa03450	0.65295272
62	Axon guidance_Homo sapiens_hsa04360	0.63873170
63	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.63376578
64	One carbon pool by folate_Homo sapiens_hsa00670	0.62580696
65	Prolactin signaling pathway_Homo sapiens_hsa04917	0.58282220
66	Olfactory transduction_Homo sapiens_hsa04740	0.57980746
67	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.57321193
68	Serotonergic synapse_Homo sapiens_hsa04726	0.56764316
69	Amphetamine addiction_Homo sapiens_hsa05031	0.54756924
70	Nitrogen metabolism_Homo sapiens_hsa00910	0.54037489
71	Type II diabetes mellitus_Homo sapiens_hsa04930	0.54018797
72	AMPK signaling pathway_Homo sapiens_hsa04152	0.53997326
73	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.53887227
74	Ras signaling pathway_Homo sapiens_hsa04014	0.52839687
75	Prostate cancer_Homo sapiens_hsa05215	0.52529871
76	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.51290638
77	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.51215487
78	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.50802650
79	Complement and coagulation cascades_Homo sapiens_hsa04610	0.50630911
80	Rap1 signaling pathway_Homo sapiens_hsa04015	0.50405511
81	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.49281364
82	RNA degradation_Homo sapiens_hsa03018	0.49044154
83	cAMP signaling pathway_Homo sapiens_hsa04024	0.48869840
84	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.48137688
85	African trypanosomiasis_Homo sapiens_hsa05143	0.47757304
86	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.46337074
87	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.46171596
88	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.45745257
89	Dopaminergic synapse_Homo sapiens_hsa04728	0.45503173
90	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.42617337
91	Cholinergic synapse_Homo sapiens_hsa04725	0.41272918
92	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.40223289
93	Retinol metabolism_Homo sapiens_hsa00830	0.39795409
94	Steroid biosynthesis_Homo sapiens_hsa00100	0.38311327
95	MAPK signaling pathway_Homo sapiens_hsa04010	0.38115767
96	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.35428991
97	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.34904617
98	p53 signaling pathway_Homo sapiens_hsa04115	0.34863396
99	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.34441371
100	Chemical carcinogenesis_Homo sapiens_hsa05204	0.33579180

POLR3DP1

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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