ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.59119076
2	DNA double-strand break processing (GO:0000729)	4.02961931
3	DNA deamination (GO:0045006)	3.83426819
4	L-fucose catabolic process (GO:0042355)	3.69817184
5	fucose catabolic process (GO:0019317)	3.69817184
6	L-fucose metabolic process (GO:0042354)	3.69817184
7	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.60809527
8	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.56991456
9	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.56991456
10	regulation of translation, ncRNA-mediated (GO:0045974)	3.56991456
11	centriole replication (GO:0007099)	3.46288077
12	respiratory chain complex IV assembly (GO:0008535)	3.42669852
13	protein complex biogenesis (GO:0070271)	3.37631336
14	water-soluble vitamin biosynthetic process (GO:0042364)	3.37415899
15	replication fork processing (GO:0031297)	3.36748662
16	regulation of hexokinase activity (GO:1903299)	3.35667236
17	regulation of glucokinase activity (GO:0033131)	3.35667236
18	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.33957377
19	NADH dehydrogenase complex assembly (GO:0010257)	3.33957377
20	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.33957377
21	recombinational repair (GO:0000725)	3.27886987
22	double-strand break repair via homologous recombination (GO:0000724)	3.26084126
23	neural tube formation (GO:0001841)	3.25174749
24	mitochondrial respiratory chain complex assembly (GO:0033108)	3.17098676
25	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.16849712
26	epithelial cilium movement (GO:0003351)	3.14046276
27	tryptophan catabolic process (GO:0006569)	3.13419215
28	indole-containing compound catabolic process (GO:0042436)	3.13419215
29	indolalkylamine catabolic process (GO:0046218)	3.13419215
30	peptidyl-histidine modification (GO:0018202)	3.12848348
31	protein-cofactor linkage (GO:0018065)	3.11147305
32	protein prenylation (GO:0018342)	3.10945113
33	prenylation (GO:0097354)	3.10945113
34	protein K11-linked deubiquitination (GO:0035871)	3.10860882
35	protein K6-linked ubiquitination (GO:0085020)	3.08633447
36	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.03019539
37	cytochrome complex assembly (GO:0017004)	3.01980100
38	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.01576507
39	synapsis (GO:0007129)	3.00967034
40	regulation of mitotic spindle checkpoint (GO:1903504)	2.98083881
41	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.98083881
42	neuron fate determination (GO:0048664)	2.97318091
43	indolalkylamine metabolic process (GO:0006586)	2.91406749
44	preassembly of GPI anchor in ER membrane (GO:0016254)	2.89622840
45	kidney morphogenesis (GO:0060993)	2.89285506
46	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.88672661
47	kynurenine metabolic process (GO:0070189)	2.87538414
48	pseudouridine synthesis (GO:0001522)	2.85562476
49	tryptophan metabolic process (GO:0006568)	2.84024200
50	cilium morphogenesis (GO:0060271)	2.81206780
51	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.79997930
52	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.79764721
53	reciprocal meiotic recombination (GO:0007131)	2.79637329
54	reciprocal DNA recombination (GO:0035825)	2.79637329
55	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.78298010
56	ATP synthesis coupled proton transport (GO:0015986)	2.77998791
57	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.77998791
58	cellular ketone body metabolic process (GO:0046950)	2.75100593
59	protein localization to cilium (GO:0061512)	2.74495574
60	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.74428696
61	piRNA metabolic process (GO:0034587)	2.74246111
62	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.71507272
63	S-adenosylmethionine metabolic process (GO:0046500)	2.69196445
64	sulfation (GO:0051923)	2.68291319
65	somite development (GO:0061053)	2.64854805
66	negative regulation of telomere maintenance (GO:0032205)	2.63187091
67	regulation of meiosis I (GO:0060631)	2.62693515
68	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.62367224
69	platelet dense granule organization (GO:0060155)	2.62198583
70	axoneme assembly (GO:0035082)	2.62119180
71	tRNA processing (GO:0008033)	2.61830494
72	ketone body metabolic process (GO:1902224)	2.60615454
73	retinal cone cell development (GO:0046549)	2.59425868
74	cilium organization (GO:0044782)	2.57813262
75	mannosylation (GO:0097502)	2.57536895
76	signal peptide processing (GO:0006465)	2.57053555
77	proteasome assembly (GO:0043248)	2.57031609
78	response to pheromone (GO:0019236)	2.56929966
79	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.53243539
80	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.53163651
81	isotype switching (GO:0045190)	2.53163651
82	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.53163651
83	cilium assembly (GO:0042384)	2.48923393
84	nonmotile primary cilium assembly (GO:0035058)	2.48605115
85	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.48562546
86	maturation of 5.8S rRNA (GO:0000460)	2.47819532
87	dopamine transport (GO:0015872)	2.46542687
88	protein polyglutamylation (GO:0018095)	2.46181693
89	DNA catabolic process, exonucleolytic (GO:0000738)	2.45163102
90	cilium movement (GO:0003341)	2.44287921
91	rRNA catabolic process (GO:0016075)	2.43813596
92	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.42680906
93	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.42680906
94	sequestering of actin monomers (GO:0042989)	2.41005130
95	male meiosis (GO:0007140)	2.40786500
96	regulation of telomere maintenance (GO:0032204)	2.39631290
97	tRNA modification (GO:0006400)	2.39194462
98	meiotic chromosome segregation (GO:0045132)	2.38573511
99	DNA replication checkpoint (GO:0000076)	2.37338056
100	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.36138009

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.54534986
2	VDR_22108803_ChIP-Seq_LS180_Human	3.49423191
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.06255381
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.64170408
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.63981277
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.60477424
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.55093810
8	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.54443489
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.52179571
10	EWS_26573619_Chip-Seq_HEK293_Human	2.51880861
11	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.49880427
12	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49404904
13	FUS_26573619_Chip-Seq_HEK293_Human	2.46435733
14	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.46419206
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.43198577
16	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.38104573
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.27102413
18	TAF15_26573619_Chip-Seq_HEK293_Human	2.23767509
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.23543758
20	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.06397231
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.05299727
22	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.03756820
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.99604244
24	P300_19829295_ChIP-Seq_ESCs_Human	1.98811369
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.98664843
26	ELK1_19687146_ChIP-ChIP_HELA_Human	1.92262068
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.87787388
28	ER_23166858_ChIP-Seq_MCF-7_Human	1.87290366
29	VDR_23849224_ChIP-Seq_CD4+_Human	1.81858615
30	MYC_18940864_ChIP-ChIP_HL60_Human	1.68348777
31	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.65786027
32	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.62727849
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.61650295
34	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.56914230
35	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.51536958
36	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.50611317
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.50611317
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.49601819
39	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.47936112
40	BCAT_22108803_ChIP-Seq_LS180_Human	1.46896972
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.46390820
42	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.46250675
43	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43162491
44	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.41170480
45	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.39864970
46	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.39582389
47	TP53_22573176_ChIP-Seq_HFKS_Human	1.39369358
48	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.37848180
49	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.36542040
50	STAT3_23295773_ChIP-Seq_U87_Human	1.35735932
51	SMAD4_21799915_ChIP-Seq_A2780_Human	1.34139098
52	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.32548362
53	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.31582734
54	FOXP3_21729870_ChIP-Seq_TREG_Human	1.30368562
55	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30054106
56	NANOG_19829295_ChIP-Seq_ESCs_Human	1.25743717
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.25743717
58	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.25645232
59	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.25247332
60	TCF4_23295773_ChIP-Seq_U87_Human	1.24092716
61	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.23944998
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.23834346
63	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.22942897
64	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.22762593
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.21763834
66	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.18697349
67	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.18697349
68	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.18104509
69	TCF4_22108803_ChIP-Seq_LS180_Human	1.17978757
70	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.16778407
71	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.16686811
72	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.16094885
73	AR_25329375_ChIP-Seq_VCAP_Human	1.15855581
74	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.15781273
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.15650759
76	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14943672
77	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14943672
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.11674742
79	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10883578
80	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.10647263
81	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.10589551
82	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.09905552
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05541072
84	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.05194014
85	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.05139245
86	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04483402
87	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04298267
88	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.03963656
89	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03790656
90	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.03649154
91	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.02375799
92	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.02344929
93	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.01240600
94	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.00687632
95	RUNX2_22187159_ChIP-Seq_PCA_Human	1.00478309
96	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	0.98843460
97	RNF2_27304074_Chip-Seq_NSC_Mouse	0.98653068
98	P53_22387025_ChIP-Seq_ESCs_Mouse	0.97967591
99	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.97575883
100	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.97384697

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	3.24592436
2	MP0002837_dystrophic_cardiac_calcinosis	3.11293319
3	MP0008877_abnormal_DNA_methylation	3.09878381
4	MP0008058_abnormal_DNA_repair	2.88430716
5	MP0002102_abnormal_ear_morphology	2.78621992
6	MP0006072_abnormal_retinal_apoptosis	2.47204109
7	MP0000372_irregular_coat_pigmentation	2.35007883
8	MP0005551_abnormal_eye_electrophysiolog	2.22039966
9	MP0000569_abnormal_digit_pigmentation	2.19450767
10	MP0003195_calcinosis	2.16526377
11	MP0002638_abnormal_pupillary_reflex	2.10925925
12	MP0008057_abnormal_DNA_replication	2.06492854
13	MP0002938_white_spotting	2.02025648
14	MP0008995_early_reproductive_senescence	1.99423480
15	MP0004145_abnormal_muscle_electrophysio	1.99072119
16	MP0001529_abnormal_vocalization	1.97868104
17	MP0005253_abnormal_eye_physiology	1.93125702
18	MP0003136_yellow_coat_color	1.89811056
19	MP0004142_abnormal_muscle_tone	1.83864938
20	MP0004147_increased_porphyrin_level	1.79152046
21	MP0009697_abnormal_copulation	1.74468823
22	MP0006292_abnormal_olfactory_placode	1.68900648
23	MP0010094_abnormal_chromosome_stability	1.64495878
24	MP0005084_abnormal_gallbladder_morpholo	1.60133921
25	MP0003786_premature_aging	1.59486503
26	MP0004133_heterotaxia	1.56992027
27	MP0002160_abnormal_reproductive_system	1.47957600
28	MP0002928_abnormal_bile_duct	1.44931312
29	MP0001968_abnormal_touch/_nociception	1.44071185
30	MP0005645_abnormal_hypothalamus_physiol	1.40870689
31	MP0000631_abnormal_neuroendocrine_gland	1.39866281
32	MP0001485_abnormal_pinna_reflex	1.35193699
33	MP0005646_abnormal_pituitary_gland	1.35170982
34	MP0001984_abnormal_olfaction	1.34534703
35	MP0006276_abnormal_autonomic_nervous	1.34253204
36	MP0004043_abnormal_pH_regulation	1.33197020
37	MP0008872_abnormal_physiological_respon	1.31720901
38	MP0002736_abnormal_nociception_after	1.28791735
39	MP0005389_reproductive_system_phenotype	1.27317333
40	MP0004742_abnormal_vestibular_system	1.23902467
41	MP0001501_abnormal_sleep_pattern	1.23153106
42	MP0003937_abnormal_limbs/digits/tail_de	1.21161052
43	MP0003718_maternal_effect	1.19881162
44	MP0004215_abnormal_myocardial_fiber	1.19678545
45	MP0009046_muscle_twitch	1.19189237
46	MP0000427_abnormal_hair_cycle	1.18207192
47	MP0003890_abnormal_embryonic-extraembry	1.17376349
48	MP0006036_abnormal_mitochondrial_physio	1.16215315
49	MP0010386_abnormal_urinary_bladder	1.14749535
50	MP0000383_abnormal_hair_follicle	1.14682079
51	MP0008875_abnormal_xenobiotic_pharmacok	1.13368987
52	MP0003252_abnormal_bile_duct	1.11525984
53	MP0001919_abnormal_reproductive_system	1.11070586
54	MP0001929_abnormal_gametogenesis	1.10624735
55	MP0006035_abnormal_mitochondrial_morpho	1.09524326
56	MP0000516_abnormal_urinary_system	1.07925003
57	MP0005367_renal/urinary_system_phenotyp	1.07925003
58	MP0005410_abnormal_fertilization	1.07206201
59	MP0002234_abnormal_pharynx_morphology	1.04417152
60	MP0003698_abnormal_male_reproductive	1.03802250
61	MP0008775_abnormal_heart_ventricle	1.03383288
62	MP0004885_abnormal_endolymph	1.01978125
63	MP0003950_abnormal_plasma_membrane	0.98354180
64	MP0001486_abnormal_startle_reflex	0.96106019
65	MP0002210_abnormal_sex_determination	0.95849484
66	MP0005075_abnormal_melanosome_morpholog	0.92964595
67	MP0009745_abnormal_behavioral_response	0.91840919
68	MP0000653_abnormal_sex_gland	0.91480823
69	MP0000749_muscle_degeneration	0.90987929
70	MP0008789_abnormal_olfactory_epithelium	0.90285430
71	MP0003787_abnormal_imprinting	0.90035676
72	MP0005195_abnormal_posterior_eye	0.88975590
73	MP0005171_absent_coat_pigmentation	0.88867613
74	MP0002751_abnormal_autonomic_nervous	0.88606728
75	MP0008961_abnormal_basal_metabolism	0.87840162
76	MP0002653_abnormal_ependyma_morphology	0.85801907
77	MP0004924_abnormal_behavior	0.85586776
78	MP0005386_behavior/neurological_phenoty	0.85586776
79	MP0000538_abnormal_urinary_bladder	0.85127405
80	MP0003693_abnormal_embryo_hatching	0.84997701
81	MP0002876_abnormal_thyroid_physiology	0.84884518
82	MP0001145_abnormal_male_reproductive	0.84838066
83	MP0003567_abnormal_fetal_cardiomyocyte	0.84812357
84	MP0005174_abnormal_tail_pigmentation	0.84728319
85	MP0002272_abnormal_nervous_system	0.84416818
86	MP0002282_abnormal_trachea_morphology	0.83245572
87	MP0001764_abnormal_homeostasis	0.82868786
88	MP0005391_vision/eye_phenotype	0.80398994
89	MP0005266_abnormal_metabolism	0.79691010
90	MP0005083_abnormal_biliary_tract	0.78217192
91	MP0001986_abnormal_taste_sensitivity	0.77828735
92	MP0003137_abnormal_impulse_conducting	0.77159413
93	MP0005187_abnormal_penis_morphology	0.76156363
94	MP0002752_abnormal_somatic_nervous	0.74016602
95	MP0003880_abnormal_central_pattern	0.73824846
96	MP0002693_abnormal_pancreas_physiology	0.72634845
97	MP0000647_abnormal_sebaceous_gland	0.71817811
98	MP0001324_abnormal_eye_pigmentation	0.71478005
99	MP0003119_abnormal_digestive_system	0.71365645
100	MP0002095_abnormal_skin_pigmentation	0.71097475

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.09883599
2	Pancreatic fibrosis (HP:0100732)	3.80863871
3	Abnormality of midbrain morphology (HP:0002418)	3.67361793
4	Molar tooth sign on MRI (HP:0002419)	3.67361793
5	True hermaphroditism (HP:0010459)	3.51210758
6	Nephronophthisis (HP:0000090)	3.34831010
7	Congenital stationary night blindness (HP:0007642)	3.15552903
8	Abnormality of the renal cortex (HP:0011035)	3.14675791
9	Medial flaring of the eyebrow (HP:0010747)	3.03162034
10	Abnormality of the renal medulla (HP:0100957)	2.97333101
11	Acute necrotizing encephalopathy (HP:0006965)	2.92058128
12	Lipid accumulation in hepatocytes (HP:0006561)	2.79749729
13	Increased hepatocellular lipid droplets (HP:0006565)	2.78742276
14	Mitochondrial inheritance (HP:0001427)	2.77454417
15	Progressive macrocephaly (HP:0004481)	2.72539981
16	Increased CSF lactate (HP:0002490)	2.71781806
17	Renal cortical cysts (HP:0000803)	2.71375219
18	Type II lissencephaly (HP:0007260)	2.71328367
19	Abnormality of the pons (HP:0007361)	2.69277634
20	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.64322721
21	Duplicated collecting system (HP:0000081)	2.59851708
22	Attenuation of retinal blood vessels (HP:0007843)	2.56098257
23	Large for gestational age (HP:0001520)	2.55811227
24	Chronic hepatic failure (HP:0100626)	2.52513937
25	Bile duct proliferation (HP:0001408)	2.52427847
26	Abnormal biliary tract physiology (HP:0012439)	2.52427847
27	Abnormality of the ileum (HP:0001549)	2.52029052
28	Acute encephalopathy (HP:0006846)	2.51204980
29	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.46390410
30	Abnormality of the renal collecting system (HP:0004742)	2.46068040
31	Hypoplasia of the pons (HP:0012110)	2.44517516
32	Hepatocellular necrosis (HP:0001404)	2.43988017
33	Meckel diverticulum (HP:0002245)	2.43481876
34	Abnormal mitochondria in muscle tissue (HP:0008316)	2.40871163
35	Methylmalonic acidemia (HP:0002912)	2.37228732
36	Chromsome breakage (HP:0040012)	2.35272381
37	Congenital primary aphakia (HP:0007707)	2.30861969
38	Congenital, generalized hypertrichosis (HP:0004540)	2.30103560
39	Abnormality of the labia minora (HP:0012880)	2.30041757
40	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.29774461
41	Abnormality of alanine metabolism (HP:0010916)	2.29774461
42	Hyperalaninemia (HP:0003348)	2.29774461
43	Cystic liver disease (HP:0006706)	2.28818537
44	Tubular atrophy (HP:0000092)	2.26264864
45	Gait imbalance (HP:0002141)	2.24877052
46	Hepatic necrosis (HP:0002605)	2.24830914
47	Cerebellar dysplasia (HP:0007033)	2.19967647
48	Hypothermia (HP:0002045)	2.14251429
49	Sclerocornea (HP:0000647)	2.13455587
50	3-Methylglutaconic aciduria (HP:0003535)	2.13330305
51	Abnormality of chromosome stability (HP:0003220)	2.11820444
52	Nephrogenic diabetes insipidus (HP:0009806)	2.09927143
53	Colon cancer (HP:0003003)	2.09354441
54	Clubbing of toes (HP:0100760)	2.08607540
55	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.07278703
56	Hyperventilation (HP:0002883)	2.05699097
57	Optic disc pallor (HP:0000543)	2.04527084
58	Anencephaly (HP:0002323)	2.03908751
59	Genital tract atresia (HP:0001827)	2.03586455
60	Intestinal atresia (HP:0011100)	2.03475169
61	Absent thumb (HP:0009777)	2.01325011
62	Lissencephaly (HP:0001339)	2.01090237
63	Exertional dyspnea (HP:0002875)	2.00909643
64	Volvulus (HP:0002580)	1.99219441
65	Ectopic kidney (HP:0000086)	1.96158269
66	Sloping forehead (HP:0000340)	1.95338417
67	Abnormality of DNA repair (HP:0003254)	1.93938292
68	Renal Fanconi syndrome (HP:0001994)	1.93653748
69	Vaginal atresia (HP:0000148)	1.93219467
70	Optic nerve hypoplasia (HP:0000609)	1.92106578
71	Increased serum lactate (HP:0002151)	1.89596837
72	Postaxial foot polydactyly (HP:0001830)	1.88703663
73	Poor coordination (HP:0002370)	1.88123398
74	Furrowed tongue (HP:0000221)	1.88049461
75	Congenital hepatic fibrosis (HP:0002612)	1.87409064
76	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.86137770
77	Methylmalonic aciduria (HP:0012120)	1.85886038
78	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.85523056
79	Male pseudohermaphroditism (HP:0000037)	1.84693295
80	Abnormal rod and cone electroretinograms (HP:0008323)	1.84333362
81	Stomach cancer (HP:0012126)	1.84074539
82	Abnormal drinking behavior (HP:0030082)	1.82877995
83	Polydipsia (HP:0001959)	1.82877995
84	Inability to walk (HP:0002540)	1.82746081
85	Abnormality of the preputium (HP:0100587)	1.82037793
86	Abolished electroretinogram (ERG) (HP:0000550)	1.79226311
87	Pendular nystagmus (HP:0012043)	1.78799781
88	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.77885253
89	Cerebral edema (HP:0002181)	1.75962159
90	Abnormal number of erythroid precursors (HP:0012131)	1.75359314
91	Astigmatism (HP:0000483)	1.74898903
92	Progressive inability to walk (HP:0002505)	1.73567481
93	Gastrointestinal atresia (HP:0002589)	1.72838217
94	Abnormality of vitamin B metabolism (HP:0004340)	1.67664354
95	Lactic acidosis (HP:0003128)	1.67489438
96	Calf muscle hypertrophy (HP:0008981)	1.67411965
97	Dandy-Walker malformation (HP:0001305)	1.67400735
98	Muscle hypertrophy of the lower extremities (HP:0008968)	1.65834743
99	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.64683260
100	Type 2 muscle fiber atrophy (HP:0003554)	1.64348863

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.15216959
2	NUAK1	2.74655263
3	MAP4K2	2.73629592
4	WNK3	2.69903019
5	ZAK	2.56329148
6	GRK1	2.44135708
7	PINK1	2.40598892
8	BMPR1B	2.22917863
9	ADRBK2	2.17294883
10	TNIK	2.11794357
11	PNCK	1.93829782
12	INSRR	1.86397126
13	OBSCN	1.85138572
14	MKNK2	1.80733974
15	EIF2AK3	1.79764566
16	VRK1	1.76605384
17	VRK2	1.75873876
18	ACVR1B	1.72927259
19	TLK1	1.70209075
20	TAOK3	1.56197423
21	AKT3	1.51206275
22	CCNB1	1.47103198
23	TIE1	1.42245879
24	WEE1	1.42033778
25	OXSR1	1.39735464
26	BUB1	1.38826170
27	BRSK2	1.38218263
28	TXK	1.37440899
29	TAF1	1.35947154
30	MAP3K4	1.33720842
31	WNK4	1.31619799
32	NLK	1.31205846
33	FGFR2	1.27957414
34	TRIM28	1.24468849
35	MST4	1.24071414
36	MKNK1	1.21278603
37	NME1	1.18059011
38	TSSK6	1.16591814
39	CASK	1.15894328
40	PLK3	1.15450710
41	MAPK15	1.10008004
42	PLK4	1.07973590
43	STK39	1.07831033
44	MAPK13	1.05436160
45	TGFBR1	1.04478715
46	SRPK1	1.00242569
47	NEK2	0.92929757
48	TEC	0.92847933
49	PIK3CG	0.91895853
50	PAK3	0.87878065
51	DYRK2	0.87253504
52	MUSK	0.84720210
53	CSNK1G1	0.83986277
54	PHKG1	0.80523415
55	PHKG2	0.80523415
56	ERBB3	0.78160533
57	CDC7	0.72788014
58	MAPKAPK3	0.69530890
59	NEK1	0.69049670
60	STK38L	0.67043579
61	PLK2	0.65262145
62	CSNK1A1L	0.65214288
63	CSNK1G2	0.65155175
64	PLK1	0.63475952
65	ATR	0.63090178
66	CSNK1G3	0.62921178
67	PASK	0.62610205
68	PRKCE	0.61460300
69	EIF2AK2	0.60684404
70	ADRBK1	0.59247879
71	CDK3	0.55108027
72	CAMKK2	0.54955816
73	IKBKB	0.54892148
74	CAMK1G	0.54205826
75	STK3	0.53087410
76	PDK2	0.51370371
77	MAP2K7	0.50562731
78	ATM	0.50429606
79	CHUK	0.50156589
80	PRKCG	0.50102365
81	MARK3	0.49285424
82	STK16	0.48810858
83	MELK	0.48651207
84	MAPKAPK5	0.47182851
85	EIF2AK1	0.46339350
86	CHEK2	0.46323187
87	RPS6KA5	0.43453640
88	PIK3CA	0.42854576
89	MARK1	0.40853340
90	SGK2	0.38853969
91	MAP2K6	0.36817735
92	PRKCQ	0.35805362
93	CSNK1A1	0.34556939
94	PTK2B	0.34155065
95	MAP4K1	0.32374420
96	EPHA3	0.31887892
97	TRPM7	0.30775986
98	BCR	0.30625059
99	LATS1	0.30482039
100	PRKG1	0.29792464

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Homologous recombination_Homo sapiens_hsa03440	3.09940760
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.81682479
3	Fanconi anemia pathway_Homo sapiens_hsa03460	2.80101071
4	RNA polymerase_Homo sapiens_hsa03020	2.64493001
5	Basal transcription factors_Homo sapiens_hsa03022	2.50826421
6	Protein export_Homo sapiens_hsa03060	2.48186927
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.46630618
8	Phototransduction_Homo sapiens_hsa04744	2.39316339
9	Parkinsons disease_Homo sapiens_hsa05012	2.33365499
10	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.20654843
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.19804897
12	Proteasome_Homo sapiens_hsa03050	2.12266819
13	Nitrogen metabolism_Homo sapiens_hsa00910	2.02758223
14	RNA degradation_Homo sapiens_hsa03018	2.02733364
15	Selenocompound metabolism_Homo sapiens_hsa00450	1.98887901
16	Butanoate metabolism_Homo sapiens_hsa00650	1.94499434
17	One carbon pool by folate_Homo sapiens_hsa00670	1.86903175
18	Non-homologous end-joining_Homo sapiens_hsa03450	1.79365574
19	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.74563584
20	Propanoate metabolism_Homo sapiens_hsa00640	1.70587178
21	Linoleic acid metabolism_Homo sapiens_hsa00591	1.69751642
22	Mismatch repair_Homo sapiens_hsa03430	1.62401408
23	Huntingtons disease_Homo sapiens_hsa05016	1.60451204
24	Nucleotide excision repair_Homo sapiens_hsa03420	1.54677167
25	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.53588565
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.52873929
27	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.48797697
28	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.45576181
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.45211825
30	Alzheimers disease_Homo sapiens_hsa05010	1.41437775
31	Ribosome_Homo sapiens_hsa03010	1.40495486
32	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.40425707
33	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.35291448
34	Tryptophan metabolism_Homo sapiens_hsa00380	1.31345488
35	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.28957189
36	Cardiac muscle contraction_Homo sapiens_hsa04260	1.28553602
37	RNA transport_Homo sapiens_hsa03013	1.23079092
38	Purine metabolism_Homo sapiens_hsa00230	1.19660511
39	Taste transduction_Homo sapiens_hsa04742	1.14130735
40	Regulation of autophagy_Homo sapiens_hsa04140	1.12335882
41	Pyrimidine metabolism_Homo sapiens_hsa00240	1.11359141
42	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.09854641
43	Olfactory transduction_Homo sapiens_hsa04740	1.06083963
44	DNA replication_Homo sapiens_hsa03030	1.03531856
45	Caffeine metabolism_Homo sapiens_hsa00232	0.98447987
46	Ether lipid metabolism_Homo sapiens_hsa00565	0.97675785
47	Circadian rhythm_Homo sapiens_hsa04710	0.96998138
48	Spliceosome_Homo sapiens_hsa03040	0.95939464
49	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.94990426
50	Nicotine addiction_Homo sapiens_hsa05033	0.92508601
51	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.92357656
52	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.88851736
53	Peroxisome_Homo sapiens_hsa04146	0.88191296
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.88136914
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.86809899
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.84949103
57	Asthma_Homo sapiens_hsa05310	0.80601268
58	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.76570321
59	Base excision repair_Homo sapiens_hsa03410	0.76195317
60	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.74247106
61	Chemical carcinogenesis_Homo sapiens_hsa05204	0.73694401
62	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.72499492
63	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.71427385
64	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.67505812
65	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.65725910
66	Metabolic pathways_Homo sapiens_hsa01100	0.63072337
67	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.62565150
68	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.62545365
69	ABC transporters_Homo sapiens_hsa02010	0.61255556
70	Basal cell carcinoma_Homo sapiens_hsa05217	0.59197970
71	Primary immunodeficiency_Homo sapiens_hsa05340	0.59011893
72	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.58851654
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.56494774
74	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.56403915
75	Lysine degradation_Homo sapiens_hsa00310	0.54610618
76	Type I diabetes mellitus_Homo sapiens_hsa04940	0.53304798
77	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.51258157
78	p53 signaling pathway_Homo sapiens_hsa04115	0.49091966
79	beta-Alanine metabolism_Homo sapiens_hsa00410	0.46500568
80	Retinol metabolism_Homo sapiens_hsa00830	0.45875312
81	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.45757842
82	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.43284241
83	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.42840321
84	Glycerolipid metabolism_Homo sapiens_hsa00561	0.41362834
85	Calcium signaling pathway_Homo sapiens_hsa04020	0.40465918
86	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.39591007
87	Serotonergic synapse_Homo sapiens_hsa04726	0.38714342
88	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.37612278
89	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.36694254
90	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.35565519
91	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.35428324
92	Cell cycle_Homo sapiens_hsa04110	0.35162620
93	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.34775566
94	Allograft rejection_Homo sapiens_hsa05330	0.34663344
95	Pyruvate metabolism_Homo sapiens_hsa00620	0.33639840
96	Graft-versus-host disease_Homo sapiens_hsa05332	0.30333542
97	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.29266806
98	Morphine addiction_Homo sapiens_hsa05032	0.29168601
99	Insulin secretion_Homo sapiens_hsa04911	0.28045887
100	Mineral absorption_Homo sapiens_hsa04978	0.27859366

TIMM23B

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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