ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	pyrimidine nucleobase catabolic process (GO:0006208)	6.52117051
2	establishment of mitochondrion localization (GO:0051654)	5.35824864
3	cullin deneddylation (GO:0010388)	5.21439022
4	protein deneddylation (GO:0000338)	4.98285479
5	nucleobase catabolic process (GO:0046113)	4.92098888
6	iron-sulfur cluster assembly (GO:0016226)	4.79014939
7	metallo-sulfur cluster assembly (GO:0031163)	4.79014939
8	ubiquinone biosynthetic process (GO:0006744)	4.69245519
9	ubiquinone metabolic process (GO:0006743)	4.69149517
10	positive regulation of mitochondrial fission (GO:0090141)	4.35782074
11	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.32392125
12	protein polyglutamylation (GO:0018095)	4.27795619
13	ribonucleoprotein complex disassembly (GO:0032988)	4.00105124
14	sequestering of actin monomers (GO:0042989)	3.93323681
15	neuron cell-cell adhesion (GO:0007158)	3.91187024
16	base-excision repair, AP site formation (GO:0006285)	3.89867932
17	gamma-aminobutyric acid transport (GO:0015812)	3.86775378
18	pyrimidine dimer repair (GO:0006290)	3.82209686
19	regulation of mitochondrial translation (GO:0070129)	3.80704331
20	quinone biosynthetic process (GO:1901663)	3.78199386
21	protein insertion into membrane (GO:0051205)	3.71019094
22	pyrimidine nucleotide catabolic process (GO:0006244)	3.70899445
23	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	3.64311339
24	positive regulation of amino acid transport (GO:0051957)	3.62584927
25	regulation of cilium movement (GO:0003352)	3.45169173
26	negative regulation of telomere maintenance (GO:0032205)	3.40481066
27	glycosphingolipid biosynthetic process (GO:0006688)	3.39500701
28	DNA integration (GO:0015074)	3.38503576
29	organelle disassembly (GO:1903008)	3.35816330
30	mitochondrion transport along microtubule (GO:0047497)	3.35430606
31	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	3.35430606
32	postsynaptic membrane organization (GO:0001941)	3.31162230
33	peptidyl-arginine omega-N-methylation (GO:0035247)	3.30404230
34	protein complex biogenesis (GO:0070271)	3.29706903
35	nonmotile primary cilium assembly (GO:0035058)	3.23740387
36	quinone metabolic process (GO:1901661)	3.23451204
37	mannosylation (GO:0097502)	3.23401882
38	DNA damage response, detection of DNA damage (GO:0042769)	3.23284462
39	de novo posttranslational protein folding (GO:0051084)	3.19953347
40	regulation of feeding behavior (GO:0060259)	3.18304010
41	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.18052517
42	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.18052517
43	GPI anchor biosynthetic process (GO:0006506)	3.07372765
44	mitochondrial respiratory chain complex assembly (GO:0033108)	3.07079654
45	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	3.07076328
46	ATP hydrolysis coupled proton transport (GO:0015991)	3.07076328
47	estrogen biosynthetic process (GO:0006703)	3.06569679
48	GPI anchor metabolic process (GO:0006505)	3.03669519
49	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.00688658
50	positive regulation of release of cytochrome c from mitochondria (GO:0090200)	2.98300475
51	de novo protein folding (GO:0006458)	2.96151727
52	cholesterol biosynthetic process (GO:0006695)	2.95504239
53	branched-chain amino acid catabolic process (GO:0009083)	2.93824755
54	cellular response to leptin stimulus (GO:0044320)	2.91756972
55	preassembly of GPI anchor in ER membrane (GO:0016254)	2.90428025
56	glycolipid biosynthetic process (GO:0009247)	2.89408287
57	behavioral response to nicotine (GO:0035095)	2.87726692
58	protein localization to synapse (GO:0035418)	2.86755088
59	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.84735135
60	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.82688505
61	regulation of glutamate secretion (GO:0014048)	2.82634873
62	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.81913212
63	polyketide metabolic process (GO:0030638)	2.81384647
64	doxorubicin metabolic process (GO:0044598)	2.81384647
65	daunorubicin metabolic process (GO:0044597)	2.81384647
66	deoxyribose phosphate catabolic process (GO:0046386)	2.80655370
67	DNA double-strand break processing (GO:0000729)	2.78362790
68	deoxyribonucleotide catabolic process (GO:0009264)	2.77328700
69	peptidyl-arginine methylation (GO:0018216)	2.77295694
70	peptidyl-arginine N-methylation (GO:0035246)	2.77295694
71	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.76585014
72	presynaptic membrane assembly (GO:0097105)	2.73382535
73	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.72425806
74	NADH dehydrogenase complex assembly (GO:0010257)	2.72425806
75	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.72425806
76	proteasome assembly (GO:0043248)	2.72097559
77	sterol biosynthetic process (GO:0016126)	2.70414138
78	water-soluble vitamin biosynthetic process (GO:0042364)	2.68676702
79	regulation of mitochondrial fission (GO:0090140)	2.66665381
80	synaptic vesicle exocytosis (GO:0016079)	2.66107696
81	protein localization to cilium (GO:0061512)	2.65026655
82	pyrimidine-containing compound catabolic process (GO:0072529)	2.63892613
83	amino acid salvage (GO:0043102)	2.62785022
84	L-methionine salvage (GO:0071267)	2.62785022
85	L-methionine biosynthetic process (GO:0071265)	2.62785022
86	axoneme assembly (GO:0035082)	2.62488013
87	succinate metabolic process (GO:0006105)	2.62214847
88	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.61106045
89	C-terminal protein lipidation (GO:0006501)	2.61043331
90	melanosome transport (GO:0032402)	2.60110877
91	response to leptin (GO:0044321)	2.57398964
92	establishment of melanosome localization (GO:0032401)	2.56657103
93	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.55846496
94	respiratory chain complex IV assembly (GO:0008535)	2.55735002
95	negative regulation of amino acid transport (GO:0051956)	2.55463020
96	intraciliary transport (GO:0042073)	2.55189040
97	melanosome localization (GO:0032400)	2.55020580
98	histone arginine methylation (GO:0034969)	2.54306539
99	positive regulation of receptor biosynthetic process (GO:0010870)	2.51470671
100	DNA deamination (GO:0045006)	2.49337517

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	4.47856145
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.24166088
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.92915849
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.19856135
5	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.04389650
6	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.99225298
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.95664506
8	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.79519552
9	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.77052059
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.58376245
11	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.56101493
12	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.51502339
13	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.47073782
14	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.39449912
15	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.34350098
16	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.33063238
17	GABP_19822575_ChIP-Seq_HepG2_Human	2.22273236
18	GBX2_23144817_ChIP-Seq_PC3_Human	2.20444443
19	CIITA_25753668_ChIP-Seq_RAJI_Human	2.18775686
20	YY1_21170310_ChIP-Seq_MESCs_Mouse	2.18644194
21	VDR_23849224_ChIP-Seq_CD4+_Human	2.16077077
22	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.15705885
23	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.13410859
24	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.07635328
25	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.03739404
26	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	2.03264480
27	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.01505090
28	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.96507686
29	RNF2_27304074_Chip-Seq_NSC_Mouse	1.73248007
30	TAF15_26573619_Chip-Seq_HEK293_Human	1.71530666
31	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.70833936
32	IRF1_19129219_ChIP-ChIP_H3396_Human	1.68493666
33	FOXP3_21729870_ChIP-Seq_TREG_Human	1.54453816
34	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.50632202
35	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.50214995
36	DCP1A_22483619_ChIP-Seq_HELA_Human	1.47960286
37	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.46643770
38	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.45239754
39	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.41508348
40	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.37466252
41	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.36149230
42	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.35977663
43	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.35925043
44	MYC_18940864_ChIP-ChIP_HL60_Human	1.33401796
45	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.29205311
46	TP53_22573176_ChIP-Seq_HFKS_Human	1.28044622
47	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.27912067
48	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.27200305
49	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.25492453
50	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.21562839
51	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.16252241
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.14737850
53	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.14342658
54	TTF2_22483619_ChIP-Seq_HELA_Human	1.13564283
55	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.13260265
56	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.11732228
57	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.11697876
58	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.11550476
59	XRN2_22483619_ChIP-Seq_HELA_Human	1.10997452
60	VDR_22108803_ChIP-Seq_LS180_Human	1.10775153
61	REST_21632747_ChIP-Seq_MESCs_Mouse	1.09347809
62	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.09138660
63	ELK1_19687146_ChIP-ChIP_HELA_Human	1.07004588
64	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.06880824
65	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.05575691
66	FUS_26573619_Chip-Seq_HEK293_Human	1.04726673
67	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.03340245
68	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.02976438
69	P300_19829295_ChIP-Seq_ESCs_Human	1.02598876
70	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.01987480
71	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.00293866
72	BCL6_27268052_Chip-Seq_Bcells_Human	1.00265975
73	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.00054907
74	KDM5A_27292631_Chip-Seq_BREAST_Human	0.99079132
75	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.96923756
76	EWS_26573619_Chip-Seq_HEK293_Human	0.96456517
77	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.96312349
78	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.96164826
79	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.95698074
80	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.95465292
81	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.95385972
82	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.94763719
83	EZH2_22144423_ChIP-Seq_EOC_Human	0.94348947
84	AR_20517297_ChIP-Seq_VCAP_Human	0.93710800
85	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.93273229
86	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.92983997
87	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.90671144
88	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.88921739
89	* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.88279981
90	* RAC3_21632823_ChIP-Seq_H3396_Human	0.88010470
91	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	0.86536530
92	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.85835554
93	ERA_21632823_ChIP-Seq_H3396_Human	0.85582832
94	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.83850197
95	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.82751874
96	* FOXP1_21924763_ChIP-Seq_HESCs_Human	0.82035669
97	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.78038981
98	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.76729002
99	ELF1_20517297_ChIP-Seq_JURKAT_Human	0.76515124
100	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	0.76451139

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002822_catalepsy	4.73201046
2	MP0001529_abnormal_vocalization	4.45296570
3	MP0003122_maternal_imprinting	3.65891891
4	MP0001984_abnormal_olfaction	3.21450193
5	MP0006276_abnormal_autonomic_nervous	2.74651117
6	MP0008789_abnormal_olfactory_epithelium	2.67752357
7	MP0005394_taste/olfaction_phenotype	2.66917205
8	MP0005499_abnormal_olfactory_system	2.66917205
9	MP0002653_abnormal_ependyma_morphology	2.60647587
10	MP0008995_early_reproductive_senescence	2.49761202
11	MP0004147_increased_porphyrin_level	2.45617615
12	MP0005645_abnormal_hypothalamus_physiol	2.38303460
13	MP0004270_analgesia	2.26246692
14	MP0003880_abnormal_central_pattern	2.26103724
15	MP0006292_abnormal_olfactory_placode	2.12090503
16	MP0004859_abnormal_synaptic_plasticity	2.07110914
17	MP0004142_abnormal_muscle_tone	1.96202839
18	MP0001986_abnormal_taste_sensitivity	1.87884436
19	MP0001968_abnormal_touch/_nociception	1.79372258
20	MP0002736_abnormal_nociception_after	1.79021738
21	MP0003011_delayed_dark_adaptation	1.73366656
22	MP0006035_abnormal_mitochondrial_morpho	1.72303359
23	MP0008058_abnormal_DNA_repair	1.68945636
24	MP0005253_abnormal_eye_physiology	1.63146577
25	MP0003121_genomic_imprinting	1.63091078
26	MP0005423_abnormal_somatic_nervous	1.59371417
27	MP0001905_abnormal_dopamine_level	1.59346224
28	MP0008877_abnormal_DNA_methylation	1.57325093
29	MP0001188_hyperpigmentation	1.57066838
30	MP0003724_increased_susceptibility_to	1.49803509
31	MP0009046_muscle_twitch	1.45840118
32	MP0001764_abnormal_homeostasis	1.43866222
33	MP0000778_abnormal_nervous_system	1.41590326
34	MP0004133_heterotaxia	1.41093415
35	MP0006036_abnormal_mitochondrial_physio	1.39671305
36	MP0000013_abnormal_adipose_tissue	1.39106431
37	MP0002572_abnormal_emotion/affect_behav	1.36502611
38	MP0002751_abnormal_autonomic_nervous	1.32799938
39	MP0005084_abnormal_gallbladder_morpholo	1.32674237
40	MP0002734_abnormal_mechanical_nocicepti	1.30548376
41	MP0000372_irregular_coat_pigmentation	1.30169242
42	MP0003221_abnormal_cardiomyocyte_apopto	1.29721950
43	MP0003786_premature_aging	1.29065192
44	MP0003635_abnormal_synaptic_transmissio	1.27137678
45	MP0005551_abnormal_eye_electrophysiolog	1.25027947
46	MP0002735_abnormal_chemical_nociception	1.24885740
47	MP0006072_abnormal_retinal_apoptosis	1.24740576
48	MP0000049_abnormal_middle_ear	1.22055471
49	MP0004811_abnormal_neuron_physiology	1.21411383
50	MP0002102_abnormal_ear_morphology	1.18854823
51	MP0002063_abnormal_learning/memory/cond	1.13272391
52	MP0005646_abnormal_pituitary_gland	1.13056109
53	MP0000631_abnormal_neuroendocrine_gland	1.12566202
54	MP0000465_gastrointestinal_hemorrhage	1.11975328
55	MP0001486_abnormal_startle_reflex	1.11245066
56	MP0009745_abnormal_behavioral_response	1.10447980
57	MP0002557_abnormal_social/conspecific_i	1.08236181
58	MP0002067_abnormal_sensory_capabilities	1.05836013
59	MP0005167_abnormal_blood-brain_barrier	1.02143312
60	MP0004924_abnormal_behavior	1.00704923
61	MP0005386_behavior/neurological_phenoty	1.00704923
62	MP0002064_seizures	1.00433714
63	MP0003698_abnormal_male_reproductive	1.00003890
64	MP0001502_abnormal_circadian_rhythm	0.97494493
65	MP0008260_abnormal_autophagy	0.96780668
66	MP0002272_abnormal_nervous_system	0.96097572
67	MP0002069_abnormal_eating/drinking_beha	0.93441716
68	MP0001970_abnormal_pain_threshold	0.93129825
69	MP0005085_abnormal_gallbladder_physiolo	0.92341821
70	MP0003137_abnormal_impulse_conducting	0.91685608
71	MP0005075_abnormal_melanosome_morpholog	0.90914463
72	MP0009697_abnormal_copulation	0.90428598
73	MP0002882_abnormal_neuron_morphology	0.87992296
74	MP0002733_abnormal_thermal_nociception	0.87042775
75	MP0002234_abnormal_pharynx_morphology	0.85338557
76	MP0004742_abnormal_vestibular_system	0.84926980
77	MP0000955_abnormal_spinal_cord	0.83377010
78	MP0002229_neurodegeneration	0.82784570
79	MP0003787_abnormal_imprinting	0.82187445
80	MP0005410_abnormal_fertilization	0.81166605
81	MP0000358_abnormal_cell_content/	0.78084824
82	MP0003656_abnormal_erythrocyte_physiolo	0.77252547
83	MP0005391_vision/eye_phenotype	0.75715074
84	MP0002332_abnormal_exercise_endurance	0.75216024
85	MP0000639_abnormal_adrenal_gland	0.74908800
86	MP0002066_abnormal_motor_capabilities/c	0.74392347
87	MP0001929_abnormal_gametogenesis	0.73367596
88	MP0002638_abnormal_pupillary_reflex	0.73201430
89	MP0003329_amyloid_beta_deposits	0.72750856
90	MP0002752_abnormal_somatic_nervous	0.72703767
91	MP0010329_abnormal_lipoprotein_level	0.69481341
92	MP0002090_abnormal_vision	0.68749167
93	MP0004145_abnormal_muscle_electrophysio	0.66152111
94	MP0002152_abnormal_brain_morphology	0.65906710
95	MP0002909_abnormal_adrenal_gland	0.63307240
96	MP0002184_abnormal_innervation	0.63227939
97	MP0000653_abnormal_sex_gland	0.62619195
98	MP0005360_urolithiasis	0.60687389
99	MP0000647_abnormal_sebaceous_gland	0.59715368
100	MP0003119_abnormal_digestive_system	0.59357665

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Gait imbalance (HP:0002141)	3.82871965
2	Congenital primary aphakia (HP:0007707)	3.72942098
3	Medial flaring of the eyebrow (HP:0010747)	3.64348974
4	Polyphagia (HP:0002591)	3.55808132
5	Nephrogenic diabetes insipidus (HP:0009806)	3.41161906
6	Sensorimotor neuropathy (HP:0007141)	3.30354688
7	Failure to thrive in infancy (HP:0001531)	3.28124457
8	Abnormal mitochondria in muscle tissue (HP:0008316)	3.04352866
9	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.00785707
10	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.00785707
11	Retinal dysplasia (HP:0007973)	2.96837502
12	Split foot (HP:0001839)	2.96135467
13	Hyperglycinemia (HP:0002154)	2.91087721
14	Specific learning disability (HP:0001328)	2.85268895
15	Increased intramyocellular lipid droplets (HP:0012240)	2.81025331
16	Amyotrophic lateral sclerosis (HP:0007354)	2.80542289
17	Atrophy/Degeneration involving motor neurons (HP:0007373)	2.70918266
18	Hepatocellular necrosis (HP:0001404)	2.68264351
19	Mitochondrial inheritance (HP:0001427)	2.68040088
20	Acute necrotizing encephalopathy (HP:0006965)	2.65668232
21	Vaginal atresia (HP:0000148)	2.63342920
22	Genital tract atresia (HP:0001827)	2.61431898
23	Acute encephalopathy (HP:0006846)	2.58902709
24	Hepatic necrosis (HP:0002605)	2.58699132
25	Increased muscle lipid content (HP:0009058)	2.56381305
26	3-Methylglutaconic aciduria (HP:0003535)	2.55354391
27	Progressive microcephaly (HP:0000253)	2.49586521
28	Opisthotonus (HP:0002179)	2.46051296
29	Lissencephaly (HP:0001339)	2.40979273
30	Methylmalonic acidemia (HP:0002912)	2.38674837
31	Spastic diplegia (HP:0001264)	2.37913499
32	Myokymia (HP:0002411)	2.37683937
33	Progressive inability to walk (HP:0002505)	2.33757129
34	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.29736586
35	Hypoplasia of the brainstem (HP:0002365)	2.29736586
36	Abnormality of the lower motor neuron (HP:0002366)	2.28871263
37	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.25868096
38	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.25868096
39	Increased CSF lactate (HP:0002490)	2.23693966
40	Decreased testicular size (HP:0008734)	2.23405630
41	Abnormal protein glycosylation (HP:0012346)	2.23241457
42	Abnormal glycosylation (HP:0012345)	2.23241457
43	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.23241457
44	Abnormal protein N-linked glycosylation (HP:0012347)	2.23241457
45	Severe combined immunodeficiency (HP:0004430)	2.19553334
46	Mutism (HP:0002300)	2.18065844
47	Broad foot (HP:0001769)	2.16418315
48	Lipid accumulation in hepatocytes (HP:0006561)	2.16331547
49	Renal Fanconi syndrome (HP:0001994)	2.15186327
50	Urinary urgency (HP:0000012)	2.15045279
51	Abnormality of the anterior horn cell (HP:0006802)	2.14404972
52	Degeneration of anterior horn cells (HP:0002398)	2.14404972
53	Exercise-induced muscle cramps (HP:0003710)	2.12530682
54	Increased hepatocellular lipid droplets (HP:0006565)	2.11998060
55	Poor coordination (HP:0002370)	2.10919584
56	True hermaphroditism (HP:0010459)	2.10419172
57	Muscular hypotonia of the trunk (HP:0008936)	2.08273786
58	Methylmalonic aciduria (HP:0012120)	2.08201026
59	Abnormal eating behavior (HP:0100738)	2.06879998
60	Postaxial hand polydactyly (HP:0001162)	2.06735695
61	Aplasia/hypoplasia of the uterus (HP:0008684)	2.06075535
62	Abnormality of glycine metabolism (HP:0010895)	2.04605928
63	Abnormality of serine family amino acid metabolism (HP:0010894)	2.04605928
64	Inability to walk (HP:0002540)	2.04357830
65	Lactic acidosis (HP:0003128)	2.04167116
66	Cerebral hypomyelination (HP:0006808)	2.04154583
67	Cholecystitis (HP:0001082)	2.03792501
68	Abnormal gallbladder physiology (HP:0012438)	2.03792501
69	Delusions (HP:0000746)	2.03583371
70	Rimmed vacuoles (HP:0003805)	2.02086702
71	Short tibia (HP:0005736)	2.00938016
72	Pancreatic cysts (HP:0001737)	2.00849733
73	Progressive macrocephaly (HP:0004481)	1.99604424
74	Abnormality of the labia minora (HP:0012880)	1.99463124
75	Hyperglycinuria (HP:0003108)	1.99452876
76	Dyskinesia (HP:0100660)	1.98713337
77	Cortical dysplasia (HP:0002539)	1.98148281
78	Renal cortical cysts (HP:0000803)	1.97371504
79	Limb dystonia (HP:0002451)	1.95778158
80	Pancreatic fibrosis (HP:0100732)	1.94666478
81	Postaxial foot polydactyly (HP:0001830)	1.93059027
82	Emotional lability (HP:0000712)	1.92594435
83	Oligodactyly (hands) (HP:0001180)	1.90817774
84	Increased serum lactate (HP:0002151)	1.88926269
85	Type 2 muscle fiber atrophy (HP:0003554)	1.88780600
86	Polymicrogyria (HP:0002126)	1.88662021
87	Intention tremor (HP:0002080)	1.88408279
88	Oligomenorrhea (HP:0000876)	1.87836190
89	CNS hypomyelination (HP:0003429)	1.87283200
90	Dicarboxylic aciduria (HP:0003215)	1.85679701
91	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.85679701
92	Pachygyria (HP:0001302)	1.84863162
93	Generalized aminoaciduria (HP:0002909)	1.83104669
94	Poor suck (HP:0002033)	1.81978071
95	Spastic gait (HP:0002064)	1.81677096
96	Abnormality of alanine metabolism (HP:0010916)	1.80719568
97	Hyperalaninemia (HP:0003348)	1.80719568
98	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.80719568
99	Molar tooth sign on MRI (HP:0002419)	1.79812287
100	Abnormality of midbrain morphology (HP:0002418)	1.79812287

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TESK2	5.03099394
2	BCKDK	4.05974426
3	BCR	3.88681607
4	MAP4K2	3.62639062
5	MAP2K7	3.53050951
6	TESK1	3.41365768
7	MAP3K4	3.18994149
8	EPHA3	3.16386409
9	LIMK1	2.56867085
10	TRIM28	2.38049838
11	CDK19	2.35015481
12	CSNK1G3	2.33712232
13	PIM2	2.23551009
14	CSNK1A1L	2.16757276
15	CSNK1G2	2.12858987
16	SRPK1	2.11342202
17	MARK1	2.01771402
18	MAP2K4	1.98526441
19	CSNK1G1	1.73303007
20	CASK	1.72985421
21	MAPK13	1.62868735
22	RPS6KA4	1.60263302
23	DYRK2	1.59779454
24	ZAK	1.48378537
25	SCYL2	1.41238935
26	WNK3	1.41004543
27	PINK1	1.40584459
28	CAMKK2	1.36567119
29	ERBB3	1.20458182
30	KDR	1.20231025
31	ARAF	1.18290730
32	MAP3K11	1.16034849
33	DYRK3	1.13918451
34	VRK2	1.13349536
35	NUAK1	1.12286710
36	GRK7	1.03980738
37	SIK3	1.03909586
38	CCNB1	1.03429622
39	PRKD3	0.99516468
40	MINK1	0.93332923
41	MAP3K5	0.88338720
42	DYRK1B	0.87886108
43	RPS6KA5	0.82835449
44	MAP4K1	0.80147586
45	TAOK1	0.78900014
46	PLK2	0.72436993
47	SIK2	0.71912352
48	TNK2	0.66449404
49	GRK6	0.65387849
50	CDK14	0.63157852
51	PAK6	0.62232562
52	CLK1	0.59387673
53	TAOK2	0.57685139
54	FER	0.56308938
55	FLT3	0.51757135
56	CSF1R	0.51036250
57	VRK1	0.49502327
58	PDK2	0.49362188
59	PRKCE	0.49361995
60	ATR	0.48807825
61	MAP3K6	0.48189440
62	UHMK1	0.47646716
63	PIK3CA	0.47334786
64	CDK18	0.43963049
65	CDK11A	0.43224630
66	EIF2AK3	0.42871385
67	RAF1	0.42848842
68	NTRK2	0.42004553
69	AURKA	0.41254915
70	CAMK2B	0.40254737
71	CAMK2G	0.39952043
72	CSNK1A1	0.38118751
73	TAOK3	0.37007385
74	DAPK2	0.36173752
75	CDK15	0.35239010
76	PKN1	0.32860754
77	PAK3	0.32409080
78	ADRBK1	0.31756704
79	CAMK2A	0.31509140
80	NEK1	0.31426436
81	ITK	0.30939464
82	MAPK15	0.30862047
83	ADRBK2	0.30814398
84	BMPR1B	0.29961378
85	DYRK1A	0.29957900
86	PRKACA	0.29698412
87	CDK5	0.29313986
88	PRKCG	0.28980146
89	PRKCZ	0.27815392
90	DAPK1	0.27249854
91	MAPK9	0.27131187
92	PRKCQ	0.26158778
93	TLK1	0.25807079
94	PRKAA1	0.23462255
95	MAPKAPK3	0.22783833
96	EPHB1	0.22244258
97	CSNK1D	0.22200145
98	MAP3K12	0.19235932
99	PRKD1	0.18594972
100	CSNK2A1	0.18007994

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.45811364
2	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	3.06949419
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.98546566
4	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.87399231
5	Fatty acid elongation_Homo sapiens_hsa00062	2.53005403
6	Oxidative phosphorylation_Homo sapiens_hsa00190	2.42316099
7	Steroid biosynthesis_Homo sapiens_hsa00100	2.36103138
8	Parkinsons disease_Homo sapiens_hsa05012	2.33183321
9	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	2.27869528
10	Nicotine addiction_Homo sapiens_hsa05033	2.22727231
11	Protein export_Homo sapiens_hsa03060	2.11128348
12	Collecting duct acid secretion_Homo sapiens_hsa04966	2.04586798
13	RNA polymerase_Homo sapiens_hsa03020	1.98054359
14	Proteasome_Homo sapiens_hsa03050	1.97377114
15	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.92545987
16	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.87925579
17	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.84133068
18	Butanoate metabolism_Homo sapiens_hsa00650	1.80621806
19	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.80278190
20	Base excision repair_Homo sapiens_hsa03410	1.80203605
21	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.76098573
22	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.73709295
23	Regulation of autophagy_Homo sapiens_hsa04140	1.73101179
24	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.69757323
25	Peroxisome_Homo sapiens_hsa04146	1.64477676
26	Primary immunodeficiency_Homo sapiens_hsa05340	1.56254388
27	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.56002812
28	GABAergic synapse_Homo sapiens_hsa04727	1.50520354
29	Fatty acid metabolism_Homo sapiens_hsa01212	1.46670065
30	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.45608676
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.45423801
32	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.42192103
33	Sulfur relay system_Homo sapiens_hsa04122	1.39687295
34	Vibrio cholerae infection_Homo sapiens_hsa05110	1.36650468
35	Huntingtons disease_Homo sapiens_hsa05016	1.31654305
36	Propanoate metabolism_Homo sapiens_hsa00640	1.30161947
37	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.28558225
38	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.20176594
39	Phototransduction_Homo sapiens_hsa04744	1.19977253
40	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.18095921
41	Alzheimers disease_Homo sapiens_hsa05010	1.08214431
42	Spliceosome_Homo sapiens_hsa03040	1.07943720
43	Carbon metabolism_Homo sapiens_hsa01200	1.07871072
44	Fanconi anemia pathway_Homo sapiens_hsa03460	1.06087290
45	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.02967074
46	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.99079903
47	Pyrimidine metabolism_Homo sapiens_hsa00240	0.95351947
48	Basal transcription factors_Homo sapiens_hsa03022	0.94641908
49	Metabolic pathways_Homo sapiens_hsa01100	0.93223250
50	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.84215419
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80884836
52	Taste transduction_Homo sapiens_hsa04742	0.80607606
53	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.75840592
54	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.75654699
55	Purine metabolism_Homo sapiens_hsa00230	0.73931623
56	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.72929151
57	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.71497995
58	Shigellosis_Homo sapiens_hsa05131	0.70871250
59	Salmonella infection_Homo sapiens_hsa05132	0.70543182
60	Olfactory transduction_Homo sapiens_hsa04740	0.69219227
61	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.68566457
62	Oocyte meiosis_Homo sapiens_hsa04114	0.68248201
63	Phagosome_Homo sapiens_hsa04145	0.66417728
64	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.66240772
65	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.63866005
66	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.60022835
67	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.58675158
68	Morphine addiction_Homo sapiens_hsa05032	0.58529197
69	RNA degradation_Homo sapiens_hsa03018	0.57030921
70	Galactose metabolism_Homo sapiens_hsa00052	0.55023473
71	Arginine and proline metabolism_Homo sapiens_hsa00330	0.54921630
72	Folate biosynthesis_Homo sapiens_hsa00790	0.53214819
73	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.52999641
74	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.51760340
75	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.51403421
76	Dopaminergic synapse_Homo sapiens_hsa04728	0.50588921
77	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.50411599
78	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.47647995
79	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.47122333
80	Cardiac muscle contraction_Homo sapiens_hsa04260	0.46473681
81	Phenylalanine metabolism_Homo sapiens_hsa00360	0.44421652
82	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.44012446
83	Homologous recombination_Homo sapiens_hsa03440	0.43872378
84	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.42232765
85	Pyruvate metabolism_Homo sapiens_hsa00620	0.41569597
86	Renin-angiotensin system_Homo sapiens_hsa04614	0.39526988
87	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.39353041
88	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.38872345
89	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.38152955
90	RNA transport_Homo sapiens_hsa03013	0.36381344
91	Pentose phosphate pathway_Homo sapiens_hsa00030	0.36314404
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36266954
93	Non-homologous end-joining_Homo sapiens_hsa03450	0.35494826
94	Fatty acid degradation_Homo sapiens_hsa00071	0.32841826
95	Sulfur metabolism_Homo sapiens_hsa00920	0.32366120
96	Nucleotide excision repair_Homo sapiens_hsa03420	0.31786530
97	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.31758736
98	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.31740520
99	Tyrosine metabolism_Homo sapiens_hsa00350	0.31648061
100	Ether lipid metabolism_Homo sapiens_hsa00565	0.30524337

C17ORF100

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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