ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	indolalkylamine metabolic process (GO:0006586)	4.57210418
2	tryptophan catabolic process (GO:0006569)	4.50459831
3	indole-containing compound catabolic process (GO:0042436)	4.50459831
4	indolalkylamine catabolic process (GO:0046218)	4.50459831
5	signal peptide processing (GO:0006465)	4.38204190
6	behavioral response to nicotine (GO:0035095)	4.36107283
7	piRNA metabolic process (GO:0034587)	4.31835237
8	kynurenine metabolic process (GO:0070189)	4.19314648
9	response to pheromone (GO:0019236)	4.14267981
10	tryptophan metabolic process (GO:0006568)	3.99362340
11	DNA deamination (GO:0045006)	3.96842174
12	detection of light stimulus involved in sensory perception (GO:0050962)	3.80202434
13	detection of light stimulus involved in visual perception (GO:0050908)	3.80202434
14	fucose catabolic process (GO:0019317)	3.78221772
15	L-fucose metabolic process (GO:0042354)	3.78221772
16	L-fucose catabolic process (GO:0042355)	3.78221772
17	reciprocal meiotic recombination (GO:0007131)	3.72530459
18	reciprocal DNA recombination (GO:0035825)	3.72530459
19	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.64777333
20	water-soluble vitamin biosynthetic process (GO:0042364)	3.63774498
21	respiratory chain complex IV assembly (GO:0008535)	3.53151923
22	protein complex biogenesis (GO:0070271)	3.49420695
23	platelet dense granule organization (GO:0060155)	3.45821715
24	synapsis (GO:0007129)	3.44942223
25	male meiosis (GO:0007140)	3.37507775
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.36308426
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.36308426
28	NADH dehydrogenase complex assembly (GO:0010257)	3.36308426
29	cilium or flagellum-dependent cell motility (GO:0001539)	3.35654513
30	cytochrome complex assembly (GO:0017004)	3.33009226
31	indole-containing compound metabolic process (GO:0042430)	3.29989822
32	male meiosis I (GO:0007141)	3.27558719
33	replication fork processing (GO:0031297)	3.24092576
34	DNA methylation involved in gamete generation (GO:0043046)	3.23007656
35	mitochondrial respiratory chain complex assembly (GO:0033108)	3.22866019
36	photoreceptor cell maintenance (GO:0045494)	3.22120485
37	sulfation (GO:0051923)	3.18933451
38	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.17891935
39	meiosis I (GO:0007127)	3.13519143
40	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.12954807
41	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.06390479
42	recombinational repair (GO:0000725)	3.05608275
43	double-strand break repair via homologous recombination (GO:0000724)	3.05494428
44	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.05320940
45	protein-cofactor linkage (GO:0018065)	3.05150661
46	retinal cone cell development (GO:0046549)	3.02188682
47	cellular ketone body metabolic process (GO:0046950)	2.98791453
48	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.98268081
49	DNA double-strand break processing (GO:0000729)	2.97060074
50	axoneme assembly (GO:0035082)	2.96674997
51	reflex (GO:0060004)	2.93232834
52	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.88431770
53	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.88431770
54	cellular biogenic amine catabolic process (GO:0042402)	2.88078802
55	amine catabolic process (GO:0009310)	2.88078802
56	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.87785150
57	L-methionine salvage (GO:0071267)	2.87432719
58	L-methionine biosynthetic process (GO:0071265)	2.87432719
59	amino acid salvage (GO:0043102)	2.87432719
60	protein K6-linked ubiquitination (GO:0085020)	2.83047828
61	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.82942958
62	neuronal action potential (GO:0019228)	2.81828352
63	adenosine metabolic process (GO:0046085)	2.81634361
64	aromatic amino acid family catabolic process (GO:0009074)	2.78584539
65	rhodopsin mediated signaling pathway (GO:0016056)	2.75118994
66	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.71987705
67	regulation of meiosis I (GO:0060631)	2.71796491
68	multicellular organism reproduction (GO:0032504)	2.71517168
69	epithelial cilium movement (GO:0003351)	2.70934224
70	methionine biosynthetic process (GO:0009086)	2.70768377
71	positive regulation of mitochondrial fission (GO:0090141)	2.68756900
72	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.68145374
73	ketone body metabolic process (GO:1902224)	2.66296588
74	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.64163109
75	nonmotile primary cilium assembly (GO:0035058)	2.60790200
76	anterograde synaptic vesicle transport (GO:0048490)	2.60609966
77	photoreceptor cell development (GO:0042461)	2.59770276
78	benzene-containing compound metabolic process (GO:0042537)	2.59146683
79	protein neddylation (GO:0045116)	2.57926783
80	pseudouridine synthesis (GO:0001522)	2.56978344
81	regulation of action potential (GO:0098900)	2.56290631
82	primary amino compound metabolic process (GO:1901160)	2.55566379
83	adaptation of signaling pathway (GO:0023058)	2.54553423
84	spermatid development (GO:0007286)	2.54208850
85	regulation of cilium movement (GO:0003352)	2.54114067
86	NAD biosynthetic process (GO:0009435)	2.52380183
87	cilium morphogenesis (GO:0060271)	2.52140265
88	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.51695196
89	cornea development in camera-type eye (GO:0061303)	2.51264723
90	peptidyl-histidine modification (GO:0018202)	2.49266153
91	mannosylation (GO:0097502)	2.48907715
92	preassembly of GPI anchor in ER membrane (GO:0016254)	2.48850743
93	tRNA processing (GO:0008033)	2.47944965
94	oxidative demethylation (GO:0070989)	2.47732790
95	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.46876190
96	cilium organization (GO:0044782)	2.46575205
97	neural tube formation (GO:0001841)	2.44126494
98	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.43829352
99	maturation of 5.8S rRNA (GO:0000460)	2.43094865
100	dopamine transport (GO:0015872)	2.42400099

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.79294685
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.74026468
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.88533086
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.64720117
5	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.58659858
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.54465781
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.42495198
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.38160123
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.37540138
10	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.35185390
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.31934390
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.15161262
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.12811321
14	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.10805178
15	EWS_26573619_Chip-Seq_HEK293_Human	2.10618184
16	P300_19829295_ChIP-Seq_ESCs_Human	2.06567699
17	FUS_26573619_Chip-Seq_HEK293_Human	2.05839271
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.05105868
19	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.98674013
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.98638020
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.85153809
22	EZH2_22144423_ChIP-Seq_EOC_Human	1.83615822
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.82088057
24	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.77639278
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.74473604
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.70708635
27	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.69093756
28	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.65315277
29	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.64460386
30	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.61529044
31	TP53_22573176_ChIP-Seq_HFKS_Human	1.58359306
32	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.57824750
33	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.57435508
34	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.55533650
35	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51934409
36	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50967409
37	STAT3_23295773_ChIP-Seq_U87_Human	1.50563133
38	ELK1_19687146_ChIP-ChIP_HELA_Human	1.49546018
39	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.48919749
40	CBP_20019798_ChIP-Seq_JUKART_Human	1.48919749
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.48589363
42	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.48496870
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.43578960
44	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.43080459
45	SMAD4_21799915_ChIP-Seq_A2780_Human	1.42952443
46	MYC_18940864_ChIP-ChIP_HL60_Human	1.41843098
47	TCF4_23295773_ChIP-Seq_U87_Human	1.39988850
48	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.38391729
49	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37761727
50	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.37317702
51	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.37179357
52	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.37179357
53	NANOG_19829295_ChIP-Seq_ESCs_Human	1.34047703
54	SOX2_19829295_ChIP-Seq_ESCs_Human	1.34047703
55	NCOR_22424771_ChIP-Seq_293T_Human	1.32800917
56	TCF4_22108803_ChIP-Seq_LS180_Human	1.32772726
57	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.32189203
58	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31455653
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.30998936
60	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.30510113
61	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.29096042
62	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.28709266
63	AR_25329375_ChIP-Seq_VCAP_Human	1.27620881
64	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.26788467
65	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.22227505
66	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.21951414
67	AR_20517297_ChIP-Seq_VCAP_Human	1.21341468
68	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.20277822
69	CDX2_22108803_ChIP-Seq_LS180_Human	1.20258212
70	VDR_23849224_ChIP-Seq_CD4+_Human	1.20051068
71	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.19886265
72	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.19421108
73	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.16685042
74	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.16090107
75	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.16086974
76	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16086974
77	HOXB7_26014856_ChIP-Seq_BT474_Human	1.14737065
78	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.14679728
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.13848903
80	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.13594509
81	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.13492594
82	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.12524309
83	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.12271856
84	RUNX2_22187159_ChIP-Seq_PCA_Human	1.09281712
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08359562
86	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.08236660
87	P53_22387025_ChIP-Seq_ESCs_Mouse	1.07148689
88	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.06694413
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.06023372
90	REST_21632747_ChIP-Seq_MESCs_Mouse	1.05232830
91	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.03843696
92	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.03086399
93	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.02975179
94	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.02663726
95	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.02398134
96	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.00511241
97	JUN_21703547_ChIP-Seq_K562_Human	0.98611287
98	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.98101569
99	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.97706185
100	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.97070966

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.90704263
2	MP0008877_abnormal_DNA_methylation	3.25202378
3	MP0005551_abnormal_eye_electrophysiolog	2.64887511
4	MP0000569_abnormal_digit_pigmentation	2.49570767
5	MP0003136_yellow_coat_color	2.45722448
6	MP0002102_abnormal_ear_morphology	2.44539095
7	MP0000372_irregular_coat_pigmentation	2.31227120
8	MP0002138_abnormal_hepatobiliary_system	2.28307245
9	MP0002876_abnormal_thyroid_physiology	2.17953378
10	MP0002837_dystrophic_cardiac_calcinosis	2.12808079
11	MP0001968_abnormal_touch/_nociception	2.09350128
12	MP0008875_abnormal_xenobiotic_pharmacok	2.06850284
13	MP0002938_white_spotting	2.06849719
14	MP0001501_abnormal_sleep_pattern	1.99011336
15	MP0005646_abnormal_pituitary_gland	1.95994908
16	MP0008872_abnormal_physiological_respon	1.94026903
17	MP0009046_muscle_twitch	1.88473427
18	MP0000427_abnormal_hair_cycle	1.75930772
19	MP0009745_abnormal_behavioral_response	1.72160649
20	MP0005253_abnormal_eye_physiology	1.71714587
21	MP0005084_abnormal_gallbladder_morpholo	1.70022512
22	MP0002736_abnormal_nociception_after	1.66947366
23	MP0002160_abnormal_reproductive_system	1.66099974
24	MP0001485_abnormal_pinna_reflex	1.64001689
25	MP0005085_abnormal_gallbladder_physiolo	1.60819926
26	MP0005645_abnormal_hypothalamus_physiol	1.59953495
27	MP0004142_abnormal_muscle_tone	1.57676160
28	MP0002735_abnormal_chemical_nociception	1.54022195
29	MP0003646_muscle_fatigue	1.53938305
30	MP0006276_abnormal_autonomic_nervous	1.52740580
31	MP0005410_abnormal_fertilization	1.51390399
32	MP0006292_abnormal_olfactory_placode	1.49282470
33	MP0005174_abnormal_tail_pigmentation	1.48336293
34	MP0002272_abnormal_nervous_system	1.45155076
35	MP0000631_abnormal_neuroendocrine_gland	1.43911087
36	MP0005365_abnormal_bile_salt	1.43652875
37	MP0008995_early_reproductive_senescence	1.43454249
38	MP0005389_reproductive_system_phenotype	1.41539598
39	MP0006072_abnormal_retinal_apoptosis	1.41329497
40	MP0004147_increased_porphyrin_level	1.38676308
41	MP0002653_abnormal_ependyma_morphology	1.35517306
42	MP0001984_abnormal_olfaction	1.33011227
43	MP0002638_abnormal_pupillary_reflex	1.31824711
44	MP0002572_abnormal_emotion/affect_behav	1.27799960
45	MP0000383_abnormal_hair_follicle	1.27349670
46	MP0003698_abnormal_male_reproductive	1.27246093
47	MP0001929_abnormal_gametogenesis	1.26633698
48	MP0004885_abnormal_endolymph	1.25002646
49	MP0002210_abnormal_sex_determination	1.24833885
50	MP0001486_abnormal_startle_reflex	1.24495492
51	MP0001986_abnormal_taste_sensitivity	1.24203026
52	MP0002095_abnormal_skin_pigmentation	1.20770857
53	MP0002733_abnormal_thermal_nociception	1.17520936
54	MP0008058_abnormal_DNA_repair	1.17214569
55	MP0002064_seizures	1.16469389
56	MP0001970_abnormal_pain_threshold	1.15463085
57	MP0005360_urolithiasis	1.15299552
58	MP0001905_abnormal_dopamine_level	1.14820765
59	MP0003718_maternal_effect	1.14557862
60	MP0004145_abnormal_muscle_electrophysio	1.12755139
61	MP0003806_abnormal_nucleotide_metabolis	1.12583436
62	MP0001529_abnormal_vocalization	1.12056529
63	MP0001919_abnormal_reproductive_system	1.08876273
64	MP0000653_abnormal_sex_gland	1.04854005
65	MP0002693_abnormal_pancreas_physiology	1.04360731
66	MP0010386_abnormal_urinary_bladder	1.04047712
67	MP0001145_abnormal_male_reproductive	1.02543606
68	MP0005332_abnormal_amino_acid	1.01169345
69	MP0003787_abnormal_imprinting	0.99890315
70	MP0002067_abnormal_sensory_capabilities	0.98953187
71	MP0005386_behavior/neurological_phenoty	0.98805400
72	MP0004924_abnormal_behavior	0.98805400
73	MP0004215_abnormal_myocardial_fiber	0.98578323
74	MP0006036_abnormal_mitochondrial_physio	0.97577230
75	MP0005379_endocrine/exocrine_gland_phen	0.96887317
76	MP0001764_abnormal_homeostasis	0.96264348
77	MP0008057_abnormal_DNA_replication	0.95501407
78	MP0005195_abnormal_posterior_eye	0.95253736
79	MP0005167_abnormal_blood-brain_barrier	0.94577222
80	MP0004043_abnormal_pH_regulation	0.93427999
81	MP0002163_abnormal_gland_morphology	0.91701786
82	MP0002557_abnormal_social/conspecific_i	0.88791640
83	MP0003786_premature_aging	0.88227307
84	MP0002277_abnormal_respiratory_mucosa	0.87672242
85	MP0004133_heterotaxia	0.86450675
86	MP0004742_abnormal_vestibular_system	0.85887625
87	MP0003880_abnormal_central_pattern	0.85784748
88	MP0005075_abnormal_melanosome_morpholog	0.83372653
89	MP0000015_abnormal_ear_pigmentation	0.82622516
90	MP0003635_abnormal_synaptic_transmissio	0.82578965
91	MP0003186_abnormal_redox_activity	0.81555640
92	MP0000230_abnormal_systemic_arterial	0.80860948
93	MP0001324_abnormal_eye_pigmentation	0.79895831
94	MP0002229_neurodegeneration	0.79244578
95	MP0002928_abnormal_bile_duct	0.79066902
96	MP0005670_abnormal_white_adipose	0.78786568
97	MP0003252_abnormal_bile_duct	0.77902030
98	MP0002063_abnormal_learning/memory/cond	0.76885575
99	MP0003950_abnormal_plasma_membrane	0.75631120
100	MP0002751_abnormal_autonomic_nervous	0.75244618

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.66081189
2	Congenital stationary night blindness (HP:0007642)	4.43054714
3	Hyperventilation (HP:0002883)	4.37654752
4	Pancreatic fibrosis (HP:0100732)	4.10888733
5	Attenuation of retinal blood vessels (HP:0007843)	4.04812513
6	True hermaphroditism (HP:0010459)	3.84329899
7	Molar tooth sign on MRI (HP:0002419)	3.52710956
8	Abnormality of midbrain morphology (HP:0002418)	3.52710956
9	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.21613110
10	Abolished electroretinogram (ERG) (HP:0000550)	3.13163940
11	Abnormal rod and cone electroretinograms (HP:0008323)	3.12381645
12	Abnormality of alanine metabolism (HP:0010916)	3.10360523
13	Hyperalaninemia (HP:0003348)	3.10360523
14	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.10360523
15	Decreased central vision (HP:0007663)	3.09385239
16	Nephronophthisis (HP:0000090)	3.06692765
17	Gaze-evoked nystagmus (HP:0000640)	3.05505561
18	Congenital, generalized hypertrichosis (HP:0004540)	3.01411723
19	Methylmalonic aciduria (HP:0012120)	2.96077195
20	Abnormality of the renal cortex (HP:0011035)	2.89646439
21	Cystic liver disease (HP:0006706)	2.85278262
22	Abnormality of the renal medulla (HP:0100957)	2.80089217
23	Inability to walk (HP:0002540)	2.79976284
24	Medial flaring of the eyebrow (HP:0010747)	2.78161333
25	Type II lissencephaly (HP:0007260)	2.76608349
26	Progressive inability to walk (HP:0002505)	2.62856385
27	Increased corneal curvature (HP:0100692)	2.60365318
28	Keratoconus (HP:0000563)	2.60365318
29	Pendular nystagmus (HP:0012043)	2.59111987
30	Sclerocornea (HP:0000647)	2.51978234
31	Abnormal drinking behavior (HP:0030082)	2.48343868
32	Polydipsia (HP:0001959)	2.48343868
33	Hypothermia (HP:0002045)	2.41777548
34	Acute necrotizing encephalopathy (HP:0006965)	2.40177973
35	Increased CSF lactate (HP:0002490)	2.39867130
36	Tubular atrophy (HP:0000092)	2.38022503
37	Furrowed tongue (HP:0000221)	2.32238611
38	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.32191539
39	Male pseudohermaphroditism (HP:0000037)	2.31486935
40	Acute encephalopathy (HP:0006846)	2.29594998
41	Large for gestational age (HP:0001520)	2.22907360
42	Progressive cerebellar ataxia (HP:0002073)	2.22818214
43	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.22687251
44	Constricted visual fields (HP:0001133)	2.22670013
45	Congenital sensorineural hearing impairment (HP:0008527)	2.22596438
46	Mitochondrial inheritance (HP:0001427)	2.22211860
47	Anencephaly (HP:0002323)	2.20907960
48	Genetic anticipation (HP:0003743)	2.17803664
49	Bony spicule pigmentary retinopathy (HP:0007737)	2.14569982
50	Optic disc pallor (HP:0000543)	2.13036270
51	Progressive macrocephaly (HP:0004481)	2.12589512
52	Congenital hepatic fibrosis (HP:0002612)	2.12292544
53	Gait imbalance (HP:0002141)	2.12170939
54	Chronic hepatic failure (HP:0100626)	2.10833442
55	Congenital primary aphakia (HP:0007707)	2.07763370
56	Fair hair (HP:0002286)	2.06059966
57	Small hand (HP:0200055)	2.04549029
58	Cerebellar dysplasia (HP:0007033)	2.02601302
59	Abnormal biliary tract physiology (HP:0012439)	2.02357781
60	Bile duct proliferation (HP:0001408)	2.02357781
61	Lipid accumulation in hepatocytes (HP:0006561)	2.01558375
62	Ketosis (HP:0001946)	2.00885633
63	Nephrogenic diabetes insipidus (HP:0009806)	1.99065221
64	Febrile seizures (HP:0002373)	1.98845995
65	Chorioretinal atrophy (HP:0000533)	1.98449441
66	Hypomagnesemia (HP:0002917)	1.96401107
67	Abnormal glycosylation (HP:0012345)	1.95922412
68	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.95922412
69	Abnormal protein N-linked glycosylation (HP:0012347)	1.95922412
70	Abnormal protein glycosylation (HP:0012346)	1.95922412
71	Renal cortical cysts (HP:0000803)	1.94622282
72	Polyuria (HP:0000103)	1.94477854
73	Methylmalonic acidemia (HP:0002912)	1.93718089
74	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.93533173
75	Absent/shortened dynein arms (HP:0200106)	1.90893999
76	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.90893999
77	Abnormal ciliary motility (HP:0012262)	1.90780401
78	Abnormal mitochondria in muscle tissue (HP:0008316)	1.89343428
79	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.89175326
80	Supernumerary spleens (HP:0009799)	1.88995024
81	Decreased circulating renin level (HP:0003351)	1.87867807
82	Protruding tongue (HP:0010808)	1.87757171
83	Ketoacidosis (HP:0001993)	1.86403870
84	Abnormal respiratory epithelium morphology (HP:0012253)	1.82952294
85	Abnormal respiratory motile cilium morphology (HP:0005938)	1.82952294
86	Hepatic necrosis (HP:0002605)	1.80312414
87	Abnormality of macular pigmentation (HP:0008002)	1.79246224
88	Hepatocellular necrosis (HP:0001404)	1.78667354
89	Optic nerve hypoplasia (HP:0000609)	1.78462448
90	Abnormality of the ileum (HP:0001549)	1.77388527
91	Broad-based gait (HP:0002136)	1.76477836
92	Astigmatism (HP:0000483)	1.75879855
93	Abnormality of the labia minora (HP:0012880)	1.75462194
94	Genital tract atresia (HP:0001827)	1.74736532
95	Lissencephaly (HP:0001339)	1.74677327
96	Hyperglycinuria (HP:0003108)	1.74311968
97	Hypoplasia of the pons (HP:0012110)	1.73171367
98	Oligodactyly (hands) (HP:0001180)	1.72682805
99	Thyroid-stimulating hormone excess (HP:0002925)	1.71597940
100	Hyperglycinemia (HP:0002154)	1.71278124

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.44024273
2	BMPR1B	3.51679421
3	INSRR	3.13098014
4	NUAK1	2.85140223
5	ADRBK2	2.53128728
6	ZAK	2.46057121
7	ACVR1B	2.35639856
8	PINK1	2.10757602
9	STK38L	2.07779385
10	GRK1	2.02147436
11	WNK3	1.99167326
12	EIF2AK3	1.95809595
13	TLK1	1.93132853
14	MAP3K4	1.88217045
15	MST4	1.84219392
16	CASK	1.75985100
17	VRK2	1.61485219
18	PLK2	1.55588544
19	PNCK	1.50890814
20	OXSR1	1.43564728
21	MAP4K2	1.42052924
22	WNK4	1.38673709
23	ADRBK1	1.36490251
24	MKNK2	1.35068297
25	STK39	1.33749971
26	TRIM28	1.30683968
27	DAPK2	1.28349227
28	NME1	1.24083982
29	MAPK13	1.13611847
30	CAMKK2	1.13282847
31	BCR	1.08657662
32	VRK1	1.05388946
33	PAK3	1.03390278
34	TAF1	1.01966183
35	PTK2B	1.00868263
36	DYRK2	0.96103544
37	CSNK1G1	0.95110908
38	PRKCE	0.93698417
39	PHKG1	0.92960444
40	PHKG2	0.92960444
41	MAP2K7	0.92947592
42	BCKDK	0.92111870
43	TXK	0.91334549
44	TAOK3	0.89628957
45	PRKCG	0.88156738
46	TGFBR1	0.87101338
47	PLK3	0.86730066
48	STK3	0.86718678
49	CSNK1G2	0.84543580
50	EIF2AK1	0.83669523
51	CSNK1G3	0.83386061
52	PIK3CG	0.81881689
53	CSNK1A1L	0.77464981
54	MARK1	0.72086139
55	LATS1	0.72036623
56	GRK7	0.71591773
57	GRK5	0.70386793
58	TNIK	0.70163831
59	CDK8	0.65368804
60	CCNB1	0.63708564
61	FGFR2	0.62923904
62	TEC	0.61283902
63	EIF2AK2	0.61112647
64	MKNK1	0.58484188
65	PRKCI	0.57985049
66	STK16	0.55224247
67	MAP2K6	0.55150464
68	TSSK6	0.53419322
69	SGK2	0.51176348
70	BRSK2	0.50610855
71	ERBB3	0.50540181
72	CAMK2A	0.50427059
73	IKBKB	0.50082334
74	NTRK3	0.49605487
75	PRKCQ	0.49162662
76	PLK4	0.49147339
77	MAPKAPK3	0.48399407
78	TIE1	0.47574389
79	NTRK2	0.47425783
80	PLK1	0.46935374
81	MET	0.45673484
82	RPS6KA5	0.38458616
83	MAP3K12	0.37154694
84	PRKACA	0.36990336
85	CSNK1A1	0.36960926
86	BUB1	0.36581762
87	CSF1R	0.35409944
88	MYLK	0.35357043
89	TNK2	0.35116340
90	SGK494	0.35112768
91	SGK223	0.35112768
92	PRKG1	0.34377257
93	OBSCN	0.32977683
94	CDC7	0.32782574
95	CAMK1	0.31261546
96	CHEK2	0.31076538
97	MUSK	0.30897643
98	NLK	0.30724475
99	FER	0.30249620
100	KIT	0.29827130

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.83322995
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.64719042
3	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.52599346
4	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.51984699
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.44951255
6	Homologous recombination_Homo sapiens_hsa03440	2.38272985
7	Butanoate metabolism_Homo sapiens_hsa00650	2.31505149
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.27037695
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.19153420
10	Proteasome_Homo sapiens_hsa03050	2.18901459
11	Caffeine metabolism_Homo sapiens_hsa00232	2.12296942
12	Protein export_Homo sapiens_hsa03060	2.10364848
13	Tryptophan metabolism_Homo sapiens_hsa00380	2.05647140
14	RNA polymerase_Homo sapiens_hsa03020	2.02474341
15	Propanoate metabolism_Homo sapiens_hsa00640	2.00217763
16	Parkinsons disease_Homo sapiens_hsa05012	1.97641450
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.94712732
18	Ether lipid metabolism_Homo sapiens_hsa00565	1.76404708
19	One carbon pool by folate_Homo sapiens_hsa00670	1.74772802
20	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.71137161
21	Basal transcription factors_Homo sapiens_hsa03022	1.69962871
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.68304641
23	Nicotine addiction_Homo sapiens_hsa05033	1.57389356
24	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.56126885
25	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.48523307
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.47915003
27	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.47075176
28	RNA degradation_Homo sapiens_hsa03018	1.45779241
29	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.43940928
30	Taste transduction_Homo sapiens_hsa04742	1.41000274
31	Huntingtons disease_Homo sapiens_hsa05016	1.40735623
32	Selenocompound metabolism_Homo sapiens_hsa00450	1.38157191
33	Fanconi anemia pathway_Homo sapiens_hsa03460	1.36853136
34	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.31455377
35	Alzheimers disease_Homo sapiens_hsa05010	1.24983359
36	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.22776976
37	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.22107681
38	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.19369074
39	Olfactory transduction_Homo sapiens_hsa04740	1.19133507
40	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.16767108
41	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.14110824
42	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.13731642
43	Peroxisome_Homo sapiens_hsa04146	1.10488802
44	Regulation of autophagy_Homo sapiens_hsa04140	1.08396940
45	beta-Alanine metabolism_Homo sapiens_hsa00410	1.07355860
46	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07113624
47	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.05631035
48	ABC transporters_Homo sapiens_hsa02010	0.98023683
49	Cardiac muscle contraction_Homo sapiens_hsa04260	0.97773818
50	Retinol metabolism_Homo sapiens_hsa00830	0.91695586
51	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.91128248
52	Morphine addiction_Homo sapiens_hsa05032	0.90016698
53	Purine metabolism_Homo sapiens_hsa00230	0.89639226
54	Collecting duct acid secretion_Homo sapiens_hsa04966	0.86183211
55	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.85026395
56	Serotonergic synapse_Homo sapiens_hsa04726	0.83384285
57	Non-homologous end-joining_Homo sapiens_hsa03450	0.82757636
58	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.76466555
59	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.75269430
60	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.73733619
61	Metabolic pathways_Homo sapiens_hsa01100	0.71339316
62	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.71079575
63	GABAergic synapse_Homo sapiens_hsa04727	0.70412903
64	Type I diabetes mellitus_Homo sapiens_hsa04940	0.68328360
65	Glutamatergic synapse_Homo sapiens_hsa04724	0.67249062
66	Pyrimidine metabolism_Homo sapiens_hsa00240	0.66605250
67	Fat digestion and absorption_Homo sapiens_hsa04975	0.66200823
68	Asthma_Homo sapiens_hsa05310	0.66195307
69	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.66187385
70	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.64985515
71	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.64297734
72	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.64172718
73	Circadian entrainment_Homo sapiens_hsa04713	0.64110851
74	Circadian rhythm_Homo sapiens_hsa04710	0.62974343
75	Histidine metabolism_Homo sapiens_hsa00340	0.62327168
76	Insulin secretion_Homo sapiens_hsa04911	0.61144002
77	Mineral absorption_Homo sapiens_hsa04978	0.59912119
78	Fatty acid degradation_Homo sapiens_hsa00071	0.59714295
79	Nucleotide excision repair_Homo sapiens_hsa03420	0.58305563
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.56448240
81	Mismatch repair_Homo sapiens_hsa03430	0.55123622
82	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.55110647
83	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.53559515
84	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.52785844
85	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.52165520
86	Ribosome_Homo sapiens_hsa03010	0.51928809
87	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.48715715
88	Calcium signaling pathway_Homo sapiens_hsa04020	0.48326590
89	RNA transport_Homo sapiens_hsa03013	0.47261901
90	Salivary secretion_Homo sapiens_hsa04970	0.45107679
91	Graft-versus-host disease_Homo sapiens_hsa05332	0.44685702
92	Sulfur relay system_Homo sapiens_hsa04122	0.43432271
93	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.42057999
94	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.39616258
95	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.39359792
96	Allograft rejection_Homo sapiens_hsa05330	0.38501255
97	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37114552
98	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.35639786
99	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.35171694
100	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.33525606

ANKRD30BP2

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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