ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of cilium movement (GO:0003352)	6.10043518
2	water-soluble vitamin biosynthetic process (GO:0042364)	6.05164384
3	mature B cell differentiation (GO:0002335)	4.77580150
4	rRNA modification (GO:0000154)	4.62355340
5	pseudouridine synthesis (GO:0001522)	4.48662907
6	aldehyde catabolic process (GO:0046185)	4.14550618
7	sulfation (GO:0051923)	4.11113958
8	protein polyglutamylation (GO:0018095)	4.07581976
9	retinal rod cell development (GO:0046548)	4.04013531
10	proline biosynthetic process (GO:0006561)	4.02811745
11	rRNA methylation (GO:0031167)	3.87597825
12	tRNA modification (GO:0006400)	3.73138544
13	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	3.71501168
14	short-chain fatty acid metabolic process (GO:0046459)	3.68237592
15	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.66244292
16	cilium morphogenesis (GO:0060271)	3.65287455
17	kynurenine metabolic process (GO:0070189)	3.64635538
18	intraciliary transport (GO:0042073)	3.60610990
19	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.60295407
20	regulation of microtubule-based movement (GO:0060632)	3.57000837
21	behavioral response to nicotine (GO:0035095)	3.56157093
22	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.52446361
23	indole-containing compound catabolic process (GO:0042436)	3.48033057
24	indolalkylamine catabolic process (GO:0046218)	3.48033057
25	tryptophan catabolic process (GO:0006569)	3.48033057
26	peptidyl-arginine omega-N-methylation (GO:0035247)	3.42253532
27	fusion of sperm to egg plasma membrane (GO:0007342)	3.41841698
28	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.34794332
29	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.26762451
30	tRNA processing (GO:0008033)	3.25456014
31	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	3.23875174
32	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.22197867
33	NADH dehydrogenase complex assembly (GO:0010257)	3.22197867
34	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.22197867
35	iron-sulfur cluster assembly (GO:0016226)	3.18578680
36	metallo-sulfur cluster assembly (GO:0031163)	3.18578680
37	mannosylation (GO:0097502)	3.18184633
38	vitamin biosynthetic process (GO:0009110)	3.16110689
39	ADP metabolic process (GO:0046031)	3.14449566
40	purine nucleotide salvage (GO:0032261)	3.14085168
41	motile cilium assembly (GO:0044458)	3.01333601
42	tRNA methylation (GO:0030488)	3.01013038
43	GTP biosynthetic process (GO:0006183)	2.99024417
44	protein complex biogenesis (GO:0070271)	2.98711344
45	cullin deneddylation (GO:0010388)	2.98122251
46	piRNA metabolic process (GO:0034587)	2.97032124
47	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.96967822
48	tryptophan metabolic process (GO:0006568)	2.96823037
49	positive regulation of catecholamine secretion (GO:0033605)	2.95182271
50	glyoxylate metabolic process (GO:0046487)	2.95167008
51	deoxyribonucleotide catabolic process (GO:0009264)	2.94792840
52	epithelial cilium movement (GO:0003351)	2.94385089
53	UTP biosynthetic process (GO:0006228)	2.93029055
54	amino acid salvage (GO:0043102)	2.91483308
55	L-methionine salvage (GO:0071267)	2.91483308
56	L-methionine biosynthetic process (GO:0071265)	2.91483308
57	pyrimidine nucleotide catabolic process (GO:0006244)	2.89506890
58	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.89097546
59	regulation of autophagic vacuole assembly (GO:2000785)	2.87695853
60	branched-chain amino acid catabolic process (GO:0009083)	2.85766932
61	photoreceptor cell maintenance (GO:0045494)	2.85609272
62	purine deoxyribonucleotide catabolic process (GO:0009155)	2.84859343
63	RNA modification (GO:0009451)	2.84004442
64	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.83668931
65	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.83668931
66	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.83380065
67	negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)	2.82481776
68	tRNA metabolic process (GO:0006399)	2.79049434
69	response to nitrosative stress (GO:0051409)	2.78868046
70	lysine metabolic process (GO:0006553)	2.78353118
71	lysine catabolic process (GO:0006554)	2.78353118
72	protein deneddylation (GO:0000338)	2.77105518
73	positive regulation of transcription regulatory region DNA binding (GO:2000679)	2.76489030
74	detection of light stimulus involved in sensory perception (GO:0050962)	2.74141023
75	detection of light stimulus involved in visual perception (GO:0050908)	2.74141023
76	positive regulation of T cell cytokine production (GO:0002726)	2.74123660
77	regulation of oxidative stress-induced neuron death (GO:1903203)	2.72917985
78	eye photoreceptor cell development (GO:0042462)	2.72109083
79	aspartate family amino acid catabolic process (GO:0009068)	2.69230290
80	photoreceptor cell development (GO:0042461)	2.69023859
81	tongue development (GO:0043586)	2.68956127
82	purine-containing compound salvage (GO:0043101)	2.68487261
83	maintenance of protein location in nucleus (GO:0051457)	2.68070048
84	purine deoxyribonucleotide metabolic process (GO:0009151)	2.66767125
85	preassembly of GPI anchor in ER membrane (GO:0016254)	2.65668955
86	mitochondrial respiratory chain complex assembly (GO:0033108)	2.65597409
87	adenosine metabolic process (GO:0046085)	2.65591459
88	mature B cell differentiation involved in immune response (GO:0002313)	2.64720086
89	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.64042954
90	peptidyl-arginine N-methylation (GO:0035246)	2.63833186
91	peptidyl-arginine methylation (GO:0018216)	2.63833186
92	histone arginine methylation (GO:0034969)	2.62706300
93	RNA methylation (GO:0001510)	2.62549092
94	deoxyribose phosphate catabolic process (GO:0046386)	2.62067267
95	rRNA transcription (GO:0009303)	2.61821724
96	regulation of vacuole organization (GO:0044088)	2.61355801
97	androgen biosynthetic process (GO:0006702)	2.61224036
98	proteasome assembly (GO:0043248)	2.61049849
99	proline metabolic process (GO:0006560)	2.59000946
100	regulation of feeding behavior (GO:0060259)	2.55688053

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.88033317
2	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.75558647
3	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	3.73926211
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.73341506
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.60529697
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.07038113
7	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.82330869
8	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.81063038
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.77291066
10	GABP_19822575_ChIP-Seq_HepG2_Human	2.55764802
11	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.54539970
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.48589344
13	FOXP3_21729870_ChIP-Seq_TREG_Human	2.47595298
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.46083976
15	IGF1R_20145208_ChIP-Seq_DFB_Human	2.44995951
16	VDR_23849224_ChIP-Seq_CD4+_Human	2.41420527
17	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.25031552
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.18329533
19	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.11789183
20	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.11691444
21	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.09796660
22	DCP1A_22483619_ChIP-Seq_HELA_Human	2.07151209
23	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.05807712
24	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.02393987
25	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.93522312
26	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.82978275
27	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.81037931
28	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.77174529
29	XRN2_22483619_ChIP-Seq_HELA_Human	1.72840232
30	ERA_21632823_ChIP-Seq_H3396_Human	1.69247338
31	IRF1_19129219_ChIP-ChIP_H3396_Human	1.68934505
32	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.68872647
33	BCL6_27268052_Chip-Seq_Bcells_Human	1.67185405
34	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.64901733
35	CIITA_25753668_ChIP-Seq_RAJI_Human	1.62057705
36	KDM5A_27292631_Chip-Seq_BREAST_Human	1.60578393
37	E2F1_20622854_ChIP-Seq_HELA_Human	1.58999987
38	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.56957148
39	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.55022563
40	GBX2_23144817_ChIP-Seq_PC3_Human	1.53719567
41	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.53712750
42	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.50380993
43	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.50320017
44	MYC_18940864_ChIP-ChIP_HL60_Human	1.50196010
45	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.49578350
46	P68_20966046_ChIP-Seq_HELA_Human	1.42295230
47	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.42006737
48	NANOG_20526341_ChIP-Seq_ESCs_Human	1.41630790
49	TTF2_22483619_ChIP-Seq_HELA_Human	1.40288586
50	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.40053932
51	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.39823067
52	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	1.38996454
53	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.38940257
54	ELK1_19687146_ChIP-ChIP_HELA_Human	1.38378321
55	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.37803511
56	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.36381138
57	CTCF_20526341_ChIP-Seq_ESCs_Human	1.33479847
58	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.31693655
59	P300_27268052_Chip-Seq_Bcells_Human	1.31131352
60	VDR_21846776_ChIP-Seq_THP-1_Human	1.29524171
61	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.29027014
62	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.28839020
63	EWS_26573619_Chip-Seq_HEK293_Human	1.28620968
64	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.28442260
65	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.28082976
66	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.27125328
67	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.25891082
68	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.25628893
69	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.22090525
70	BCOR_27268052_Chip-Seq_Bcells_Human	1.21232725
71	PHF8_20622854_ChIP-Seq_HELA_Human	1.19051108
72	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.16736230
73	ELF5_23300383_ChIP-Seq_T47D_Human	1.16309972
74	TP53_22573176_ChIP-Seq_HFKS_Human	1.16251112
75	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.15931979
76	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.13897019
77	PKCTHETA_26484144_Chip-Seq_BREAST_Human	1.13286459
78	CTCF_21964334_Chip-Seq_Bcells_Human	1.13192368
79	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.10987163
80	TAF2_19829295_ChIP-Seq_ESCs_Human	1.09434962
81	RAC3_21632823_ChIP-Seq_H3396_Human	1.09056140
82	OCT4_20526341_ChIP-Seq_ESCs_Human	1.09044775
83	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.07462246
84	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.07262393
85	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.06987054
86	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.05858184
87	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.03777085
88	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.03615561
89	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.03432204
90	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.01960810
91	AR_20517297_ChIP-Seq_VCAP_Human	1.00526711
92	MYC_19829295_ChIP-Seq_ESCs_Human	1.00404863
93	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.98667188
94	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.98400362
95	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.97765674
96	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.97593798
97	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.97441004
98	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.95684791
99	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95500389
100	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.93504435

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008789_abnormal_olfactory_epithelium	4.73290288
2	MP0005394_taste/olfaction_phenotype	4.61453710
3	MP0005499_abnormal_olfactory_system	4.61453710
4	MP0002102_abnormal_ear_morphology	3.94772171
5	MP0000015_abnormal_ear_pigmentation	3.30762374
6	MP0003806_abnormal_nucleotide_metabolis	3.18701190
7	MP0001529_abnormal_vocalization	3.15912504
8	MP0005171_absent_coat_pigmentation	3.11051996
9	MP0002653_abnormal_ependyma_morphology	3.09142884
10	MP0005174_abnormal_tail_pigmentation	2.85683216
11	MP0003136_yellow_coat_color	2.54667156
12	MP0006072_abnormal_retinal_apoptosis	2.50552715
13	MP0001984_abnormal_olfaction	2.37846083
14	MP0010386_abnormal_urinary_bladder	2.35878480
15	MP0000372_irregular_coat_pigmentation	2.21609716
16	MP0009697_abnormal_copulation	2.19250699
17	MP0001986_abnormal_taste_sensitivity	2.15421138
18	MP0010234_abnormal_vibrissa_follicle	2.12554529
19	MP0005646_abnormal_pituitary_gland	2.05947910
20	MP0005253_abnormal_eye_physiology	2.03347661
21	MP0002638_abnormal_pupillary_reflex	1.82681923
22	MP0006276_abnormal_autonomic_nervous	1.73970601
23	MP0010678_abnormal_skin_adnexa	1.67316431
24	MP0002095_abnormal_skin_pigmentation	1.63143107
25	MP0008058_abnormal_DNA_repair	1.60186500
26	MP0005084_abnormal_gallbladder_morpholo	1.59911723
27	MP0000383_abnormal_hair_follicle	1.58585932
28	MP0006036_abnormal_mitochondrial_physio	1.54665314
29	MP0009780_abnormal_chondrocyte_physiolo	1.52613027
30	MP0002233_abnormal_nose_morphology	1.47966340
31	MP0005551_abnormal_eye_electrophysiolog	1.46714250
32	MP0005075_abnormal_melanosome_morpholog	1.44659124
33	MP0002822_catalepsy	1.44179991
34	MP0002160_abnormal_reproductive_system	1.42935200
35	MP0002177_abnormal_outer_ear	1.42172723
36	MP0001270_distended_abdomen	1.39335857
37	MP0008877_abnormal_DNA_methylation	1.38098219
38	MP0003011_delayed_dark_adaptation	1.26716831
39	MP0006035_abnormal_mitochondrial_morpho	1.26633169
40	MP0006292_abnormal_olfactory_placode	1.21479852
41	MP0001661_extended_life_span	1.19737985
42	MP0003186_abnormal_redox_activity	1.16956555
43	MP0005391_vision/eye_phenotype	1.15968293
44	MP0008872_abnormal_physiological_respon	1.15845641
45	MP0000538_abnormal_urinary_bladder	1.14964933
46	MP0005187_abnormal_penis_morphology	1.13966934
47	MP0001905_abnormal_dopamine_level	1.12291145
48	MP0000427_abnormal_hair_cycle	1.11996805
49	MP0005645_abnormal_hypothalamus_physiol	1.10887527
50	MP0000467_abnormal_esophagus_morphology	1.10846106
51	MP0000049_abnormal_middle_ear	1.10368038
52	MP0003315_abnormal_perineum_morphology	1.09922000
53	MP0000681_abnormal_thyroid_gland	1.08160664
54	MP0009764_decreased_sensitivity_to	1.06664755
55	MP0002282_abnormal_trachea_morphology	1.06552681
56	MP0008004_abnormal_stomach_pH	1.04989416
57	MP0008875_abnormal_xenobiotic_pharmacok	1.04053524
58	MP0003385_abnormal_body_wall	1.03892062
59	MP0004924_abnormal_behavior	1.03670329
60	MP0005386_behavior/neurological_phenoty	1.03670329
61	MP0008775_abnormal_heart_ventricle	0.96118105
62	MP0000749_muscle_degeneration	0.92551882
63	MP0003693_abnormal_embryo_hatching	0.91526920
64	MP0000358_abnormal_cell_content/	0.87505324
65	MP0005389_reproductive_system_phenotype	0.86730020
66	MP0000465_gastrointestinal_hemorrhage	0.83354013
67	MP0001764_abnormal_homeostasis	0.82348935
68	MP0002938_white_spotting	0.82009859
69	MP0000569_abnormal_digit_pigmentation	0.81822926
70	MP0000026_abnormal_inner_ear	0.81374358
71	MP0005508_abnormal_skeleton_morphology	0.78055023
72	MP0001340_abnormal_eyelid_morphology	0.77509928
73	MP0002876_abnormal_thyroid_physiology	0.76725916
74	MP0001324_abnormal_eye_pigmentation	0.76545596
75	MP0000631_abnormal_neuroendocrine_gland	0.75839026
76	MP0000013_abnormal_adipose_tissue	0.75293437
77	MP0002736_abnormal_nociception_after	0.74824203
78	MP0001968_abnormal_touch/_nociception	0.73951603
79	MP0008007_abnormal_cellular_replicative	0.69379481
80	MP0009384_cardiac_valve_regurgitation	0.68402245
81	MP0001756_abnormal_urination	0.67744292
82	MP0002090_abnormal_vision	0.65232486
83	MP0010094_abnormal_chromosome_stability	0.64744904
84	MP0003698_abnormal_male_reproductive	0.64401563
85	MP0005410_abnormal_fertilization	0.64358066
86	MP0002928_abnormal_bile_duct	0.64223438
87	MP0004808_abnormal_hematopoietic_stem	0.63914424
88	MP0005083_abnormal_biliary_tract	0.61757991
89	MP0001881_abnormal_mammary_gland	0.61003863
90	MP0002132_abnormal_respiratory_system	0.60335249
91	MP0003183_abnormal_peptide_metabolism	0.58547383
92	MP0002127_abnormal_cardiovascular_syste	0.57795228
93	MP0000470_abnormal_stomach_morphology	0.56817705
94	MP0002932_abnormal_joint_morphology	0.56508312
95	MP0010368_abnormal_lymphatic_system	0.56360308
96	MP0001919_abnormal_reproductive_system	0.55253005
97	MP0002752_abnormal_somatic_nervous	0.54320439
98	MP0002234_abnormal_pharynx_morphology	0.54236838
99	MP0005195_abnormal_posterior_eye	0.53708377
100	MP0002210_abnormal_sex_determination	0.52522664

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperglycinemia (HP:0002154)	4.87344509
2	Reduced antithrombin III activity (HP:0001976)	4.71758657
3	Congenital primary aphakia (HP:0007707)	3.86202900
4	Medial flaring of the eyebrow (HP:0010747)	3.82790195
5	Gait imbalance (HP:0002141)	3.81514278
6	Type I transferrin isoform profile (HP:0003642)	3.74324327
7	Nephrogenic diabetes insipidus (HP:0009806)	3.58315322
8	Abnormal biliary tract physiology (HP:0012439)	3.52602406
9	Bile duct proliferation (HP:0001408)	3.52602406
10	Abnormal protein glycosylation (HP:0012346)	3.48260855
11	Abnormal glycosylation (HP:0012345)	3.48260855
12	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	3.48260855
13	Abnormal protein N-linked glycosylation (HP:0012347)	3.48260855
14	Abnormality of the columella (HP:0009929)	3.33178871
15	Rib fusion (HP:0000902)	3.23764736
16	Hepatocellular necrosis (HP:0001404)	3.17943392
17	Hepatic necrosis (HP:0002605)	3.14485683
18	Abnormality of dicarboxylic acid metabolism (HP:0010995)	3.06594468
19	Dicarboxylic aciduria (HP:0003215)	3.06594468
20	Methylmalonic aciduria (HP:0012120)	3.05919749
21	Methylmalonic acidemia (HP:0002912)	3.04161767
22	Congenital stationary night blindness (HP:0007642)	2.91484194
23	Poor coordination (HP:0002370)	2.79975146
24	Pancytopenia (HP:0001876)	2.76542457
25	Nephronophthisis (HP:0000090)	2.76419909
26	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.74314607
27	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.74314607
28	Capillary hemangiomas (HP:0005306)	2.69841195
29	Microvesicular hepatic steatosis (HP:0001414)	2.59609479
30	Abnormality of the costochondral junction (HP:0000919)	2.57777564
31	B lymphocytopenia (HP:0010976)	2.57237698
32	Lipid accumulation in hepatocytes (HP:0006561)	2.56096592
33	Pancreatic cysts (HP:0001737)	2.53695370
34	Abnormality of glycine metabolism (HP:0010895)	2.51344594
35	Abnormality of serine family amino acid metabolism (HP:0010894)	2.51344594
36	Attenuation of retinal blood vessels (HP:0007843)	2.51145452
37	Poikiloderma (HP:0001029)	2.50883341
38	Ketosis (HP:0001946)	2.49449296
39	Abnormality of the aortic arch (HP:0012303)	2.49390351
40	Pancreatic fibrosis (HP:0100732)	2.41164150
41	Mitochondrial inheritance (HP:0001427)	2.32685541
42	Vaginal atresia (HP:0000148)	2.30505975
43	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.30342323
44	Increased muscle lipid content (HP:0009058)	2.28056025
45	Abnormal mitochondria in muscle tissue (HP:0008316)	2.25561700
46	Generalized aminoaciduria (HP:0002909)	2.21814635
47	Cystic liver disease (HP:0006706)	2.20987518
48	Autoimmune hemolytic anemia (HP:0001890)	2.20289344
49	Increased CSF lactate (HP:0002490)	2.18943065
50	Absent thumb (HP:0009777)	2.17382819
51	True hermaphroditism (HP:0010459)	2.16063440
52	Genital tract atresia (HP:0001827)	2.14761109
53	Abnormality of the renal medulla (HP:0100957)	2.14134726
54	Acute encephalopathy (HP:0006846)	2.12154208
55	Abnormal rod and cone electroretinograms (HP:0008323)	2.11086198
56	Hyperammonemia (HP:0001987)	2.09180027
57	Increased intramyocellular lipid droplets (HP:0012240)	2.07658476
58	Tubulointerstitial nephritis (HP:0001970)	2.03747815
59	Aplasia/Hypoplasia of the lens (HP:0008063)	2.03392711
60	Beaking of vertebral bodies (HP:0004568)	2.03088279
61	Biconcave vertebral bodies (HP:0004586)	1.98937739
62	Vertebral compression fractures (HP:0002953)	1.97618363
63	Acute necrotizing encephalopathy (HP:0006965)	1.97460078
64	Disproportionate short-trunk short stature (HP:0003521)	1.96129159
65	Intestinal atresia (HP:0011100)	1.94524246
66	Increased serum lactate (HP:0002151)	1.93946163
67	Abnormality of the parathyroid morphology (HP:0011766)	1.93506828
68	Abnormality of B cell number (HP:0010975)	1.92228078
69	Thrombocytosis (HP:0001894)	1.91318407
70	Abnormality of polysaccharide metabolism (HP:0011012)	1.90016916
71	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.90016916
72	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.90016916
73	Increased hepatocellular lipid droplets (HP:0006565)	1.88917791
74	Abnormality of the ileum (HP:0001549)	1.87266377
75	Urinary glycosaminoglycan excretion (HP:0003541)	1.86045627
76	Mucopolysacchariduria (HP:0008155)	1.86045627
77	Cerebral hypomyelination (HP:0006808)	1.84019981
78	Unsteady gait (HP:0002317)	1.83332202
79	Neonatal respiratory distress (HP:0002643)	1.82034006
80	Testicular atrophy (HP:0000029)	1.80346232
81	Panhypogammaglobulinemia (HP:0003139)	1.79581230
82	Decreased central vision (HP:0007663)	1.74571141
83	Type II lissencephaly (HP:0007260)	1.73993887
84	Broad foot (HP:0001769)	1.73348816
85	Decreased testicular size (HP:0008734)	1.73216081
86	Progressive microcephaly (HP:0000253)	1.72515574
87	Tented upper lip vermilion (HP:0010804)	1.71856747
88	Molar tooth sign on MRI (HP:0002419)	1.71141160
89	Abnormality of midbrain morphology (HP:0002418)	1.71141160
90	Poor head control (HP:0002421)	1.70958035
91	Aplastic anemia (HP:0001915)	1.70921173
92	Cervical subluxation (HP:0003308)	1.69077788
93	Severe combined immunodeficiency (HP:0004430)	1.68592879
94	Lactic acidosis (HP:0003128)	1.68149372
95	Progressive macrocephaly (HP:0004481)	1.67727221
96	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.64069072
97	Generalized amyotrophy (HP:0003700)	1.63886577
98	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.62743797
99	Thoracic kyphosis (HP:0002942)	1.62197120
100	Chorioretinal atrophy (HP:0000533)	1.61624126

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NUAK1	4.09038738
2	BCKDK	3.89603501
3	NME2	3.65436036
4	PINK1	3.63126686
5	MUSK	3.62021783
6	ZAK	3.56914692
7	BMPR1B	3.48212320
8	TAOK3	3.09803892
9	STK16	2.74109951
10	PIM2	2.49651264
11	TLK1	2.26012188
12	KIT	2.16039643
13	LATS1	2.10619179
14	ADRBK2	2.02535090
15	ARAF	1.90426899
16	MAPK15	1.80535085
17	GRK1	1.76922256
18	MYLK	1.73474707
19	MAP4K2	1.71968565
20	MAP3K10	1.62626794
21	MAPKAPK3	1.60203891
22	MST4	1.56897372
23	NEK2	1.54621881
24	VRK2	1.53853041
25	GRK6	1.53656931
26	PRKCQ	1.39351442
27	MAP3K14	1.34981001
28	RPS6KA5	1.33377134
29	CDK3	1.26764736
30	PASK	1.21810086
31	ILK	1.21303062
32	STK3	1.11850787
33	RAF1	1.07845640
34	CDK8	1.07404512
35	AKT2	1.05096071
36	DYRK3	1.02800714
37	PTK2B	1.00375538
38	BUB1	0.96427511
39	FRK	0.93694644
40	TBK1	0.87115608
41	TXK	0.85669938
42	VRK1	0.84841707
43	FLT3	0.84558610
44	CDK19	0.84288653
45	TGFBR1	0.82328567
46	ABL2	0.81652514
47	MAP2K7	0.79721780
48	CSF1R	0.77421126
49	CSNK1G3	0.75020163
50	MARK3	0.71029566
51	CHUK	0.70340370
52	ADRBK1	0.69558357
53	MST1R	0.69385360
54	DAPK1	0.68751234
55	MAPK11	0.66579522
56	TESK2	0.65212812
57	EIF2AK3	0.64731220
58	TRIM28	0.64555938
59	IKBKB	0.64283195
60	CSNK1A1L	0.63295608
61	MET	0.61407141
62	ATR	0.58759653
63	RPS6KB2	0.54124511
64	MAP2K3	0.53312371
65	MAP3K4	0.51512971
66	CSNK1A1	0.51311216
67	ABL1	0.50349001
68	SCYL2	0.46389549
69	MAP4K1	0.44016005
70	MAP3K3	0.43527960
71	IRAK3	0.43253196
72	RPS6KA4	0.41259491
73	PLK1	0.41222720
74	STK38L	0.40268112
75	AURKB	0.39084764
76	EEF2K	0.39042736
77	LYN	0.38521560
78	DAPK3	0.37547974
79	SYK	0.35614687
80	CHEK2	0.34570528
81	DYRK2	0.29669479
82	RPS6KA6	0.29180992
83	PRKCD	0.28358785
84	TEC	0.28321208
85	CSNK1G2	0.28260303
86	RPS6KL1	0.28064422
87	RPS6KC1	0.28064422
88	CDK7	0.27046080
89	EGFR	0.24839498
90	ROCK1	0.24537058
91	BCR	0.24279275
92	MAPK3	0.23203159
93	BTK	0.22528321
94	SRPK1	0.22340956
95	PRKAA1	0.22024694
96	PRKCI	0.21976681
97	SIK2	0.21006038
98	AURKA	0.20245941
99	CSNK2A1	0.19640611
100	CSNK1G1	0.19568762

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.29435521
2	Sulfur relay system_Homo sapiens_hsa04122	3.09030599
3	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.70914800
4	RNA polymerase_Homo sapiens_hsa03020	2.64398058
5	Glycosaminoglycan degradation_Homo sapiens_hsa00531	2.63621216
6	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.24417672
7	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.20875481
8	One carbon pool by folate_Homo sapiens_hsa00670	2.17547737
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.10755542
10	Asthma_Homo sapiens_hsa05310	1.95859836
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.93577009
12	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.92810009
13	Phototransduction_Homo sapiens_hsa04744	1.88451622
14	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.88226477
15	RNA degradation_Homo sapiens_hsa03018	1.87944011
16	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.85414214
17	Pyrimidine metabolism_Homo sapiens_hsa00240	1.84242172
18	Base excision repair_Homo sapiens_hsa03410	1.77456761
19	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.69773847
20	DNA replication_Homo sapiens_hsa03030	1.69005972
21	Proteasome_Homo sapiens_hsa03050	1.52533633
22	Ribosome_Homo sapiens_hsa03010	1.50497451
23	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.49888027
24	Chemical carcinogenesis_Homo sapiens_hsa05204	1.49139447
25	Glutathione metabolism_Homo sapiens_hsa00480	1.48183079
26	Parkinsons disease_Homo sapiens_hsa05012	1.46588896
27	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.42478165
28	Homologous recombination_Homo sapiens_hsa03440	1.41891513
29	Other glycan degradation_Homo sapiens_hsa00511	1.41454533
30	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.40299206
31	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.40075113
32	Butanoate metabolism_Homo sapiens_hsa00650	1.38759830
33	Oxidative phosphorylation_Homo sapiens_hsa00190	1.37492019
34	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.35602341
35	Purine metabolism_Homo sapiens_hsa00230	1.35398554
36	Allograft rejection_Homo sapiens_hsa05330	1.34673189
37	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.34323715
38	Graft-versus-host disease_Homo sapiens_hsa05332	1.31787474
39	Olfactory transduction_Homo sapiens_hsa04740	1.30543452
40	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.25064015
41	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.24944022
42	Mismatch repair_Homo sapiens_hsa03430	1.23178303
43	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.22219634
44	Spliceosome_Homo sapiens_hsa03040	1.20304660
45	Protein export_Homo sapiens_hsa03060	1.16228712
46	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.16155928
47	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.12401865
48	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.11641209
49	Type I diabetes mellitus_Homo sapiens_hsa04940	1.06830575
50	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.02584387
51	Tryptophan metabolism_Homo sapiens_hsa00380	1.01838367
52	Propanoate metabolism_Homo sapiens_hsa00640	1.01234254
53	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.00706192
54	RNA transport_Homo sapiens_hsa03013	1.00522055
55	Huntingtons disease_Homo sapiens_hsa05016	0.99979326
56	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.96233203
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.93741227
58	Arginine and proline metabolism_Homo sapiens_hsa00330	0.91412765
59	Lysine degradation_Homo sapiens_hsa00310	0.91279726
60	Nitrogen metabolism_Homo sapiens_hsa00910	0.88014567
61	Alcoholism_Homo sapiens_hsa05034	0.86950860
62	Metabolic pathways_Homo sapiens_hsa01100	0.85154368
63	Basal transcription factors_Homo sapiens_hsa03022	0.84987120
64	Selenocompound metabolism_Homo sapiens_hsa00450	0.84808345
65	Peroxisome_Homo sapiens_hsa04146	0.83259485
66	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.83194238
67	Regulation of autophagy_Homo sapiens_hsa04140	0.79620992
68	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.78922213
69	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.72961772
70	Taste transduction_Homo sapiens_hsa04742	0.71998473
71	Non-homologous end-joining_Homo sapiens_hsa03450	0.70735876
72	Primary immunodeficiency_Homo sapiens_hsa05340	0.69139564
73	Phenylalanine metabolism_Homo sapiens_hsa00360	0.66916224
74	Retinol metabolism_Homo sapiens_hsa00830	0.66542804
75	Nucleotide excision repair_Homo sapiens_hsa03420	0.65407229
76	p53 signaling pathway_Homo sapiens_hsa04115	0.60440333
77	Linoleic acid metabolism_Homo sapiens_hsa00591	0.60127247
78	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.59054323
79	Herpes simplex infection_Homo sapiens_hsa05168	0.56861741
80	Fatty acid elongation_Homo sapiens_hsa00062	0.56270850
81	Notch signaling pathway_Homo sapiens_hsa04330	0.51570293
82	Alzheimers disease_Homo sapiens_hsa05010	0.50376928
83	Steroid biosynthesis_Homo sapiens_hsa00100	0.46020880
84	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.45261641
85	Sphingolipid metabolism_Homo sapiens_hsa00600	0.44823112
86	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.44535177
87	mRNA surveillance pathway_Homo sapiens_hsa03015	0.44314533
88	Tyrosine metabolism_Homo sapiens_hsa00350	0.43714152
89	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.39460635
90	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.38782009
91	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.35767466
92	Rheumatoid arthritis_Homo sapiens_hsa05323	0.35135137
93	Viral myocarditis_Homo sapiens_hsa05416	0.34044197
94	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.32393656
95	Carbon metabolism_Homo sapiens_hsa01200	0.31952079
96	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.29246015
97	Antigen processing and presentation_Homo sapiens_hsa04612	0.28476972
98	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.25737053
99	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.25506780
100	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.24932650

FAM86HP

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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