ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	high-density lipoprotein particle remodeling (GO:0034375)	9.05788543
2	phospholipid efflux (GO:0033700)	8.66307201
3	reverse cholesterol transport (GO:0043691)	8.35940092
4	regulation of triglyceride catabolic process (GO:0010896)	6.75551391
5	plasma lipoprotein particle assembly (GO:0034377)	6.69124613
6	regulation of cholesterol esterification (GO:0010872)	5.93276820
7	protein-lipid complex assembly (GO:0065005)	5.76103127
8	very-low-density lipoprotein particle assembly (GO:0034379)	5.72797640
9	protein-lipid complex remodeling (GO:0034368)	5.38293974
10	macromolecular complex remodeling (GO:0034367)	5.38293974
11	plasma lipoprotein particle remodeling (GO:0034369)	5.38293974
12	cholesterol efflux (GO:0033344)	5.34781100
13	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	4.60351736
14	ether lipid metabolic process (GO:0046485)	4.58011549
15	negative regulation of lipase activity (GO:0060192)	4.50782629
16	plasma lipoprotein particle organization (GO:0071827)	4.39453302
17	keratinocyte development (GO:0003334)	4.24144879
18	cellular response to oxygen radical (GO:0071450)	4.20127330
19	removal of superoxide radicals (GO:0019430)	4.20127330
20	cellular response to superoxide (GO:0071451)	4.20127330
21	negative regulation of sterol transport (GO:0032372)	4.07569921
22	negative regulation of cholesterol transport (GO:0032375)	4.07569921
23	protein-lipid complex subunit organization (GO:0071825)	4.02633783
24	cellular response to zinc ion (GO:0071294)	4.01568364
25	phospholipid homeostasis (GO:0055091)	4.01500860
26	transepithelial transport (GO:0070633)	3.88534030
27	C4-dicarboxylate transport (GO:0015740)	3.76238091
28	regulation of lipoprotein metabolic process (GO:0050746)	3.63909190
29	water-soluble vitamin biosynthetic process (GO:0042364)	3.61942972
30	triglyceride homeostasis (GO:0070328)	3.60523033
31	acylglycerol homeostasis (GO:0055090)	3.60523033
32	response to superoxide (GO:0000303)	3.45733005
33	response to redox state (GO:0051775)	3.44033920
34	regulation of sarcomere organization (GO:0060297)	3.42208137
35	glycerol ether metabolic process (GO:0006662)	3.41322428
36	intraciliary transport (GO:0042073)	3.41004842
37	negative regulation of fatty acid biosynthetic process (GO:0045717)	3.38992433
38	response to oxygen radical (GO:0000305)	3.35278804
39	organ formation (GO:0048645)	3.31612880
40	branched-chain amino acid catabolic process (GO:0009083)	3.28047337
41	plasma lipoprotein particle clearance (GO:0034381)	3.25956229
42	ovulation from ovarian follicle (GO:0001542)	3.22300192
43	cholesterol transport (GO:0030301)	3.19278980
44	sterol transport (GO:0015918)	3.19278980
45	proteasome assembly (GO:0043248)	3.18946930
46	nephron epithelium morphogenesis (GO:0072088)	3.18076154
47	nephron tubule morphogenesis (GO:0072078)	3.18076154
48	DNA damage response, detection of DNA damage (GO:0042769)	3.16783947
49	ether metabolic process (GO:0018904)	3.13605282
50	valine metabolic process (GO:0006573)	3.06970028
51	regulation of lipoprotein particle clearance (GO:0010984)	3.05925240
52	positive regulation of glycoprotein biosynthetic process (GO:0010560)	3.05215345
53	L-ascorbic acid metabolic process (GO:0019852)	3.00954381
54	cytochrome complex assembly (GO:0017004)	2.97320503
55	protein localization to cilium (GO:0061512)	2.96521486
56	respiratory chain complex IV assembly (GO:0008535)	2.95504137
57	positive regulation of protein homodimerization activity (GO:0090073)	2.86790637
58	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	2.81648148
59	platelet dense granule organization (GO:0060155)	2.80623207
60	regulation of meiosis I (GO:0060631)	2.80499438
61	homocysteine metabolic process (GO:0050667)	2.78236256
62	phototransduction, visible light (GO:0007603)	2.74888210
63	branched-chain amino acid metabolic process (GO:0009081)	2.74392857
64	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.74064627
65	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.74064627
66	vitamin transmembrane transport (GO:0035461)	2.73565648
67	replication fork processing (GO:0031297)	2.70659772
68	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.68834199
69	negative regulation of receptor-mediated endocytosis (GO:0048261)	2.68638868
70	DNA double-strand break processing (GO:0000729)	2.67767074
71	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.62513305
72	phosphatidylethanolamine metabolic process (GO:0046337)	2.62358006
73	protein K11-linked deubiquitination (GO:0035871)	2.62022295
74	cellular biogenic amine catabolic process (GO:0042402)	2.60028579
75	amine catabolic process (GO:0009310)	2.60028579
76	lipoprotein metabolic process (GO:0042157)	2.59434710
77	retinal cone cell development (GO:0046549)	2.59362063
78	regulation of cholesterol transport (GO:0032374)	2.58327677
79	regulation of sterol transport (GO:0032371)	2.58327677
80	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.57015430
81	heme transport (GO:0015886)	2.54694117
82	response to phenylpropanoid (GO:0080184)	2.53809867
83	regulation of Golgi to plasma membrane protein transport (GO:0042996)	2.53589870
84	resolution of meiotic recombination intermediates (GO:0000712)	2.53298417
85	negative regulation of lipid catabolic process (GO:0050995)	2.51790538
86	phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)	2.51435774
87	cholesterol homeostasis (GO:0042632)	2.49867199
88	detection of visible light (GO:0009584)	2.49357838
89	positive regulation of glycoprotein metabolic process (GO:1903020)	2.48976315
90	fucose metabolic process (GO:0006004)	2.48845463
91	phototransduction (GO:0007602)	2.48162965
92	embryonic heart tube development (GO:0035050)	2.47617908
93	inositol phosphate dephosphorylation (GO:0046855)	2.47207837
94	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.47207837
95	GPI anchor metabolic process (GO:0006505)	2.45207680
96	axoneme assembly (GO:0035082)	2.44048098
97	regulation of sulfur metabolic process (GO:0042762)	2.42934436
98	sterol homeostasis (GO:0055092)	2.42926482
99	glutathione derivative metabolic process (GO:1901685)	2.42360386
100	response to pheromone (GO:0019236)	12.7475176

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.12301784
2	ZNF274_21170338_ChIP-Seq_K562_Hela	2.95769740
3	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.85105017
4	VDR_22108803_ChIP-Seq_LS180_Human	2.73359657
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.34184377
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.33610667
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.29673352
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.23086118
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.11525402
10	FUS_26573619_Chip-Seq_HEK293_Human	2.09820228
11	P300_19829295_ChIP-Seq_ESCs_Human	2.08593248
12	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.07967575
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.07023211
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.00283043
15	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.98031878
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.90933454
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.89210539
18	TAF15_26573619_Chip-Seq_HEK293_Human	1.87868887
19	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.86403283
20	CBP_20019798_ChIP-Seq_JUKART_Human	1.86403283
21	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.82228931
22	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.81424266
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.78730668
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.77765308
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.73105500
26	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.70439625
27	EWS_26573619_Chip-Seq_HEK293_Human	1.69819743
28	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.69261182
29	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.68056920
30	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.57325595
31	NANOG_19829295_ChIP-Seq_ESCs_Human	1.54896115
32	SOX2_19829295_ChIP-Seq_ESCs_Human	1.54896115
33	CDX2_22108803_ChIP-Seq_LS180_Human	1.52944874
34	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.51980814
35	ELK1_19687146_ChIP-ChIP_HELA_Human	1.51917826
36	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.51468310
37	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.49988178
38	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.46567129
39	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.46317387
40	BCAT_22108803_ChIP-Seq_LS180_Human	1.43842217
41	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.41972187
42	STAT3_23295773_ChIP-Seq_U87_Human	1.39734986
43	P53_22387025_ChIP-Seq_ESCs_Mouse	1.39683257
44	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.37550779
45	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.35298256
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35044913
47	P300_18555785_Chip-Seq_ESCs_Mouse	1.34991171
48	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.33543712
49	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.33035035
50	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.32926648
51	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.30498809
52	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.29680024
53	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.28037083
54	SMAD4_21799915_ChIP-Seq_A2780_Human	1.27916105
55	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.27480437
56	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.27471078
57	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.26649646
58	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.26457853
59	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.26457853
60	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.24578213
61	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.24066197
62	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.21888521
63	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.20899445
64	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.20754369
65	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.20754369
66	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.20630754
67	TCF4_23295773_ChIP-Seq_U87_Human	1.19937447
68	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.19587555
69	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.18453118
70	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.18069926
71	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.17675823
72	PHF8_20622853_ChIP-Seq_HELA_Human	1.17581794
73	TP53_22573176_ChIP-Seq_HFKS_Human	1.17264106
74	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.17018725
75	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.16977156
76	NFYB_21822215_ChIP-Seq_K562_Human	1.16907196
77	MYC_18940864_ChIP-ChIP_HL60_Human	1.15706277
78	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.15250597
79	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.15250597
80	AR_25329375_ChIP-Seq_VCAP_Human	1.15011876
81	RUNX2_22187159_ChIP-Seq_PCA_Human	1.14884905
82	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.14347816
83	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.14266405
84	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.13547486
85	NFYA_21822215_ChIP-Seq_K562_Human	1.12115576
86	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.11892855
87	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.10893295
88	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.10622600
89	TBL1_22424771_ChIP-Seq_293T_Human	1.09590293
90	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.09464403
91	TCF4_22108803_ChIP-Seq_LS180_Human	1.09079693
92	RBPJ_21746931_ChIP-Seq_IB4_Human	1.08914899
93	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.08816169
94	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.08694075
95	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.08075352
96	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.07333151
97	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.06507499
98	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.05274445
99	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.04375765
100	TP53_16413492_ChIP-PET_HCT116_Human	1.04011259

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009840_abnormal_foam_cell	6.82213458
2	MP0002254_reproductive_system_inflammat	5.24013019
3	MP0000372_irregular_coat_pigmentation	4.36209107
4	MP0005360_urolithiasis	3.72379192
5	MP0005084_abnormal_gallbladder_morpholo	3.61827767
6	MP0006054_spinal_hemorrhage	3.17700092
7	MP0008877_abnormal_DNA_methylation	3.01069227
8	MP0003136_yellow_coat_color	2.98361998
9	MP0002876_abnormal_thyroid_physiology	2.84552342
10	MP0001188_hyperpigmentation	2.47489067
11	MP0003878_abnormal_ear_physiology	2.37404860
12	MP0005377_hearing/vestibular/ear_phenot	2.37404860
13	MP0005174_abnormal_tail_pigmentation	2.15957831
14	MP0002138_abnormal_hepatobiliary_system	2.07847281
15	MP0005075_abnormal_melanosome_morpholog	2.03389966
16	MP0002938_white_spotting	2.00650600
17	MP0005551_abnormal_eye_electrophysiolog	1.96218486
18	MP0000015_abnormal_ear_pigmentation	1.95047359
19	MP0001485_abnormal_pinna_reflex	1.93088294
20	MP0005367_renal/urinary_system_phenotyp	1.83989722
21	MP0000516_abnormal_urinary_system	1.83989722
22	MP0004145_abnormal_muscle_electrophysio	1.82511218
23	MP0003567_abnormal_fetal_cardiomyocyte	1.73132439
24	MP0010329_abnormal_lipoprotein_level	1.71056108
25	MP0003195_calcinosis	1.68211028
26	MP0004270_analgesia	1.59808527
27	MP0003950_abnormal_plasma_membrane	1.58857263
28	MP0004019_abnormal_vitamin_homeostasis	1.58297611
29	MP0003718_maternal_effect	1.56396683
30	MP0003121_genomic_imprinting	1.43634283
31	MP0002139_abnormal_hepatobiliary_system	1.40069626
32	MP0000427_abnormal_hair_cycle	1.35413834
33	MP0001666_abnormal_nutrient_absorption	1.34782457
34	MP0005332_abnormal_amino_acid	1.30394332
35	MP0005410_abnormal_fertilization	1.29357730
36	MP0003191_abnormal_cellular_cholesterol	1.29117655
37	MP0005408_hypopigmentation	1.28304314
38	MP0004142_abnormal_muscle_tone	1.23076843
39	MP0000569_abnormal_digit_pigmentation	1.22307942
40	MP0008875_abnormal_xenobiotic_pharmacok	1.19499561
41	MP0002090_abnormal_vision	1.18563159
42	MP0005409_darkened_coat_color	1.16327195
43	MP0005389_reproductive_system_phenotype	1.16049602
44	MP0001919_abnormal_reproductive_system	1.10869048
45	MP0003186_abnormal_redox_activity	1.10077258
46	MP0001293_anophthalmia	1.10056669
47	MP0003806_abnormal_nucleotide_metabolis	1.06881760
48	MP0006292_abnormal_olfactory_placode	1.04201880
49	MP0001299_abnormal_eye_distance/	1.03357852
50	MP0003787_abnormal_imprinting	1.01192673
51	MP0003890_abnormal_embryonic-extraembry	1.00927046
52	MP0008058_abnormal_DNA_repair	1.00839281
53	MP0008057_abnormal_DNA_replication	1.00262570
54	MP0010386_abnormal_urinary_bladder	0.99833049
55	MP0002160_abnormal_reproductive_system	0.98479874
56	MP0006036_abnormal_mitochondrial_physio	0.96170660
57	MP0002127_abnormal_cardiovascular_syste	0.96159037
58	MP0001324_abnormal_eye_pigmentation	0.95719429
59	MP0006072_abnormal_retinal_apoptosis	0.93935438
60	MP0003122_maternal_imprinting	0.93006976
61	MP0001764_abnormal_homeostasis	0.92160664
62	MP0003943_abnormal_hepatobiliary_system	0.90733030
63	MP0002102_abnormal_ear_morphology	0.87496284
64	MP0001486_abnormal_startle_reflex	0.87288525
65	MP0002095_abnormal_skin_pigmentation	0.85910209
66	MP0002295_abnormal_pulmonary_circulatio	0.84818395
67	MP0004043_abnormal_pH_regulation	0.83769815
68	MP0005171_absent_coat_pigmentation	0.83597294
69	MP0001177_atelectasis	0.81430247
70	MP0005253_abnormal_eye_physiology	0.78829869
71	MP0002396_abnormal_hematopoietic_system	0.77121417
72	MP0003119_abnormal_digestive_system	0.77083729
73	MP0005636_abnormal_mineral_homeostasis	0.76928298
74	MP0002928_abnormal_bile_duct	0.73222679
75	MP0005464_abnormal_platelet_physiology	0.72466733
76	MP0005220_abnormal_exocrine_pancreas	0.67156234
77	MP0000371_diluted_coat_color	0.66797768
78	MP0005257_abnormal_intraocular_pressure	0.66252911
79	MP0000383_abnormal_hair_follicle	0.65912876
80	MP0003941_abnormal_skin_development	0.65625386
81	MP0001929_abnormal_gametogenesis	0.63637316
82	MP0002118_abnormal_lipid_homeostasis	0.62719260
83	MP0005085_abnormal_gallbladder_physiolo	0.62220109
84	MP0001119_abnormal_female_reproductive	0.62022408
85	MP0003698_abnormal_male_reproductive	0.60809243
86	MP0004085_abnormal_heartbeat	0.60642163
87	MP0009643_abnormal_urine_homeostasis	0.60105554
88	MP0009703_decreased_birth_body	0.58949944
89	MP0004147_increased_porphyrin_level	0.58761142
90	MP0005395_other_phenotype	0.58652130
91	MP0001984_abnormal_olfaction	0.58635342
92	MP0002734_abnormal_mechanical_nocicepti	0.57665569
93	MP0001756_abnormal_urination	0.57571438
94	MP0000653_abnormal_sex_gland	0.56529345
95	MP0004381_abnormal_hair_follicle	0.56368270
96	MP0004264_abnormal_extraembryonic_tissu	0.52553977
97	MP0000647_abnormal_sebaceous_gland	0.52521267
98	MP0000639_abnormal_adrenal_gland	0.51090433
99	MP0002557_abnormal_social/conspecific_i	0.51040804
100	MP0004885_abnormal_endolymph	0.50826387

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypobetalipoproteinemia (HP:0003563)	6.97025951
2	Absent rod-and cone-mediated responses on ERG (HP:0007688)	6.18213040
3	Tubulointerstitial nephritis (HP:0001970)	5.52130732
4	Hypolipoproteinemia (HP:0010981)	5.23345058
5	Abnormal rod and cone electroretinograms (HP:0008323)	4.38574889
6	Hyperlipoproteinemia (HP:0010980)	4.31648517
7	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	4.18207842
8	Hyperglycinemia (HP:0002154)	4.16741721
9	Abnormal pancreas size (HP:0012094)	4.05171347
10	Abnormality of glycine metabolism (HP:0010895)	3.41398551
11	Abnormality of serine family amino acid metabolism (HP:0010894)	3.41398551
12	Hypoalphalipoproteinemia (HP:0003233)	3.39138925
13	Delayed CNS myelination (HP:0002188)	3.36718026
14	Pigmentary retinal degeneration (HP:0001146)	3.35414949
15	Hypomagnesemia (HP:0002917)	3.33793786
16	Hyperglycinuria (HP:0003108)	3.26974999
17	Type 2 muscle fiber atrophy (HP:0003554)	2.93889177
18	Malnutrition (HP:0004395)	2.76671789
19	Intrahepatic cholestasis (HP:0001406)	2.75723507
20	Attenuation of retinal blood vessels (HP:0007843)	2.71942254
21	Vitreoretinal degeneration (HP:0000655)	2.70546104
22	Long clavicles (HP:0000890)	2.63344772
23	Tubulointerstitial abnormality (HP:0001969)	2.58414178
24	Bilateral microphthalmos (HP:0007633)	2.55955648
25	Tetany (HP:0001281)	2.53039027
26	Bicornuate uterus (HP:0000813)	2.51998916
27	Severe visual impairment (HP:0001141)	2.47543225
28	Abolished electroretinogram (ERG) (HP:0000550)	2.44011100
29	Hypoplasia of the uterus (HP:0000013)	2.43842073
30	Abnormality of magnesium homeostasis (HP:0004921)	2.43401075
31	Dyschromatopsia (HP:0007641)	2.43341392
32	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.35226831
33	Colon cancer (HP:0003003)	2.33710103
34	Short humerus (HP:0005792)	2.32625208
35	Volvulus (HP:0002580)	2.30726960
36	Partial agenesis of the corpus callosum (HP:0001338)	2.26905864
37	Nausea (HP:0002018)	2.20522281
38	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.19172925
39	Absent/shortened dynein arms (HP:0200106)	2.19172925
40	Abnormality of macular pigmentation (HP:0008002)	2.18825728
41	Abnormality of serum amino acid levels (HP:0003112)	2.17650637
42	Chronic hepatic failure (HP:0100626)	2.14228735
43	Aplasia/hypoplasia of the humerus (HP:0006507)	2.14220544
44	Hyperalaninemia (HP:0003348)	2.14095439
45	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.14095439
46	Abnormality of alanine metabolism (HP:0010916)	2.14095439
47	Methylmalonic acidemia (HP:0002912)	2.13853179
48	Nephronophthisis (HP:0000090)	2.13141564
49	Limb hypertonia (HP:0002509)	2.12965308
50	Muscle fiber atrophy (HP:0100295)	2.09154795
51	Hypothermia (HP:0002045)	2.05035844
52	Hyperkalemia (HP:0002153)	2.04845778
53	Short tibia (HP:0005736)	2.04347373
54	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.04211596
55	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.02011135
56	Hypoplasia of the fovea (HP:0007750)	1.99774246
57	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.99774246
58	3-Methylglutaconic aciduria (HP:0003535)	1.99499207
59	Stage 5 chronic kidney disease (HP:0003774)	1.98383407
60	Proximal tubulopathy (HP:0000114)	1.95848999
61	Cerebellar dysplasia (HP:0007033)	1.94939334
62	Intestinal atresia (HP:0011100)	1.93959518
63	Renal cortical cysts (HP:0000803)	1.92492075
64	Choroideremia (HP:0001139)	1.91587687
65	Patchy hypopigmentation of hair (HP:0011365)	1.91125317
66	Adrenal hypoplasia (HP:0000835)	1.91113791
67	Abnormality of pyrimidine metabolism (HP:0004353)	1.89218311
68	Retinal atrophy (HP:0001105)	1.87114776
69	Congenital sensorineural hearing impairment (HP:0008527)	1.86129713
70	Decreased muscle mass (HP:0003199)	1.84640629
71	Hyperammonemia (HP:0001987)	1.84470271
72	Genital tract atresia (HP:0001827)	1.83336567
73	Aplasia/hypoplasia of the uterus (HP:0008684)	1.82301625
74	Atonic seizures (HP:0010819)	1.82136726
75	Metabolic acidosis (HP:0001942)	1.81880477
76	Pancreatic cysts (HP:0001737)	1.80676735
77	Abnormality of dental color (HP:0011073)	1.80043202
78	Febrile seizures (HP:0002373)	1.77977203
79	Fibular hypoplasia (HP:0003038)	1.76448833
80	Hypoplasia of the iris (HP:0007676)	1.75671724
81	Cystic liver disease (HP:0006706)	1.75291018
82	Prolonged neonatal jaundice (HP:0006579)	1.75284872
83	Optic disc pallor (HP:0000543)	1.75247280
84	Abnormality of methionine metabolism (HP:0010901)	1.75037838
85	Constricted visual fields (HP:0001133)	1.74320393
86	Tubular atrophy (HP:0000092)	1.73127567
87	Abnormality of the renal medulla (HP:0100957)	1.73028737
88	Abnormality of vitamin B metabolism (HP:0004340)	1.71757749
89	Pendular nystagmus (HP:0012043)	1.71026922
90	White forelock (HP:0002211)	1.70586046
91	Abnormality of the renal cortex (HP:0011035)	1.69887709
92	Acute encephalopathy (HP:0006846)	1.69712256
93	Aplasia/Hypoplasia of the macula (HP:0008059)	1.67623823
94	Pancreatic fibrosis (HP:0100732)	1.67217641
95	Abnormality of the fovea (HP:0000493)	1.65843336
96	Anophthalmia (HP:0000528)	1.65609994
97	Abnormality of chloride homeostasis (HP:0011422)	1.63985372
98	Ketosis (HP:0001946)	1.62650537
99	Vaginal atresia (HP:0000148)	1.62412781
100	Abnormality of the labia minora (HP:0012880)	1.62379012

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	6.63378583
2	PIK3CG	4.59750968
3	TNIK	3.49678630
4	TRIM28	3.37754279
5	ACVR1B	3.08901360
6	MAP4K2	2.57010633
7	PDK2	2.55652912
8	WNK3	2.41627658
9	BCKDK	2.21416478
10	FRK	2.10233025
11	PRKD3	2.00657655
12	STK39	1.97352529
13	NUAK1	1.93055427
14	PBK	1.85719021
15	TESK2	1.83203983
16	MST4	1.82165924
17	BCR	1.80571412
18	ERBB3	1.80240948
19	MKNK2	1.75315232
20	BMPR1B	1.71151274
21	BMPR2	1.67757549
22	AKT3	1.59889977
23	MKNK1	1.57963810
24	TAF1	1.50802673
25	MAPK13	1.46642873
26	OXSR1	1.35400574
27	MAP3K12	1.28749748
28	GRK1	1.27634237
29	BRSK2	1.23845197
30	NEK1	1.18140205
31	BRD4	1.17940031
32	PLK2	1.13489804
33	ADRBK2	1.00820383
34	PAK3	0.98096245
35	EIF2AK3	0.97840963
36	EPHA3	0.95106422
37	TAOK3	0.90847483
38	CSNK1G2	0.90065634
39	CASK	0.83887780
40	NEK6	0.81623708
41	PLK3	0.81589027
42	FER	0.81501477
43	PRKCE	0.77885975
44	WEE1	0.76421800
45	PHKG1	0.75474360
46	PHKG2	0.75474360
47	RPS6KA4	0.74606878
48	WNK4	0.73827495
49	CSNK1G1	0.72821437
50	CSNK1G3	0.72744254
51	STK3	0.71801913
52	CSNK1A1L	0.69487985
53	ADRBK1	0.67814418
54	TGFBR1	0.67598099
55	NLK	0.66432493
56	FGFR2	0.66182892
57	SIK3	0.66142807
58	FGFR1	0.63817299
59	MAPK7	0.62580789
60	VRK1	0.62253051
61	PLK4	0.60197484
62	EIF2AK2	0.60045150
63	PIK3CA	0.60004833
64	TSSK6	0.57920666
65	BRSK1	0.57760405
66	PINK1	0.55354051
67	MYLK	0.51641677
68	NEK9	0.47310237
69	PRKG2	0.45186272
70	SRPK1	0.44780315
71	PRKCH	0.42320850
72	PRKCG	0.41959675
73	MAPK12	0.40289281
74	ERBB4	0.36679074
75	VRK2	0.35908422
76	PTK2B	0.33842503
77	GRK5	0.33128022
78	BUB1	0.28861887
79	PRKACB	0.28810384
80	DYRK3	0.28806848
81	CDK3	0.28230755
82	TEC	0.24674487
83	OBSCN	0.24577807
84	INSRR	0.24514486
85	ATR	0.23380057
86	PRKCQ	0.23254944
87	MAP3K4	0.22470501
88	LMTK2	0.21522343
89	CAMKK2	0.21349139
90	EPHA4	0.20957683
91	CSNK2A1	0.20350098
92	MINK1	0.18891630
93	ATM	0.18695997
94	PRKACA	0.17605389
95	STK4	0.17414676
96	CSNK1A1	0.17090843
97	MELK	0.16397270
98	DAPK2	0.15809888
99	STK16	0.15764327
100	DAPK1	0.14421664

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Vitamin digestion and absorption_Homo sapiens_hsa04977	3.14920373
2	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.03220703
3	Propanoate metabolism_Homo sapiens_hsa00640	2.83458403
4	Selenocompound metabolism_Homo sapiens_hsa00450	2.76891577
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.67253966
6	Fat digestion and absorption_Homo sapiens_hsa04975	2.64185330
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.60713390
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.60387414
9	Proteasome_Homo sapiens_hsa03050	2.33473140
10	Caffeine metabolism_Homo sapiens_hsa00232	2.29031441
11	Linoleic acid metabolism_Homo sapiens_hsa00591	2.19046393
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.05348408
13	Tryptophan metabolism_Homo sapiens_hsa00380	1.94040047
14	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.89847488
15	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.88983250
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.87415061
17	Steroid biosynthesis_Homo sapiens_hsa00100	1.82505284
18	Mineral absorption_Homo sapiens_hsa04978	1.75185241
19	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.73273874
20	Butanoate metabolism_Homo sapiens_hsa00650	1.56004497
21	Sulfur metabolism_Homo sapiens_hsa00920	1.54142807
22	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.51486498
23	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.48994938
24	Fatty acid degradation_Homo sapiens_hsa00071	1.46513756
25	Protein export_Homo sapiens_hsa03060	1.44116750
26	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.42733905
27	Galactose metabolism_Homo sapiens_hsa00052	1.42615294
28	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.42532637
29	Nitrogen metabolism_Homo sapiens_hsa00910	1.42170640
30	Ether lipid metabolism_Homo sapiens_hsa00565	1.41714368
31	Chemical carcinogenesis_Homo sapiens_hsa05204	1.38955444
32	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.35043301
33	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.33137454
34	Glutathione metabolism_Homo sapiens_hsa00480	1.33062710
35	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.30700769
36	Basal transcription factors_Homo sapiens_hsa03022	1.27323211
37	Peroxisome_Homo sapiens_hsa04146	1.23713684
38	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.23227632
39	Glycerolipid metabolism_Homo sapiens_hsa00561	1.22950819
40	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.14703891
41	Phototransduction_Homo sapiens_hsa04744	1.12741973
42	Oxidative phosphorylation_Homo sapiens_hsa00190	1.10757770
43	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.09481783
44	Sphingolipid metabolism_Homo sapiens_hsa00600	1.08105755
45	Pyruvate metabolism_Homo sapiens_hsa00620	1.04314109
46	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.03900780
47	beta-Alanine metabolism_Homo sapiens_hsa00410	1.02277617
48	RNA degradation_Homo sapiens_hsa03018	1.01217698
49	Olfactory transduction_Homo sapiens_hsa04740	1.00735601
50	Arginine and proline metabolism_Homo sapiens_hsa00330	1.00208013
51	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.97825061
52	Fatty acid elongation_Homo sapiens_hsa00062	0.96182440
53	Non-homologous end-joining_Homo sapiens_hsa03450	0.93537627
54	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.93534415
55	Retinol metabolism_Homo sapiens_hsa00830	0.93281708
56	RNA polymerase_Homo sapiens_hsa03020	0.92964783
57	One carbon pool by folate_Homo sapiens_hsa00670	0.87358472
58	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.84815803
59	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.83691701
60	Parkinsons disease_Homo sapiens_hsa05012	0.83471078
61	Metabolic pathways_Homo sapiens_hsa01100	0.79876536
62	Huntingtons disease_Homo sapiens_hsa05016	0.75728951
63	Fatty acid metabolism_Homo sapiens_hsa01212	0.75617417
64	PPAR signaling pathway_Homo sapiens_hsa03320	0.75313592
65	Salivary secretion_Homo sapiens_hsa04970	0.72618997
66	RNA transport_Homo sapiens_hsa03013	0.72141693
67	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.71503626
68	Carbon metabolism_Homo sapiens_hsa01200	0.71472573
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.71245684
70	African trypanosomiasis_Homo sapiens_hsa05143	0.68437659
71	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.68364305
72	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.67457293
73	Collecting duct acid secretion_Homo sapiens_hsa04966	0.66733088
74	ABC transporters_Homo sapiens_hsa02010	0.66480804
75	Purine metabolism_Homo sapiens_hsa00230	0.66224664
76	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.64669048
77	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.61074074
78	Complement and coagulation cascades_Homo sapiens_hsa04610	0.58901443
79	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.58526884
80	Homologous recombination_Homo sapiens_hsa03440	0.52114582
81	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.51040158
82	Taste transduction_Homo sapiens_hsa04742	0.49949509
83	Tight junction_Homo sapiens_hsa04530	0.49931315
84	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.49169174
85	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.49069417
86	Histidine metabolism_Homo sapiens_hsa00340	0.48213508
87	Circadian rhythm_Homo sapiens_hsa04710	0.47751441
88	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.45834343
89	Hippo signaling pathway_Homo sapiens_hsa04390	0.44902505
90	Long-term depression_Homo sapiens_hsa04730	0.43366145
91	Fanconi anemia pathway_Homo sapiens_hsa03460	0.42867167
92	Renin secretion_Homo sapiens_hsa04924	0.42010573
93	Tyrosine metabolism_Homo sapiens_hsa00350	0.38069390
94	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.37341049
95	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.35334634
96	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.32438454
97	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.29887444
98	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.29228373
99	Base excision repair_Homo sapiens_hsa03410	0.27876152
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.26997138

HIGD1AP17

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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