ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	establishment of protein localization to mitochondrial membrane (GO:0090151)	5.97822135
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.68599551
3	ATP synthesis coupled proton transport (GO:0015986)	4.68599551
4	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.60347256
5	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.51392769
6	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.51392769
7	NADH dehydrogenase complex assembly (GO:0010257)	4.51392769
8	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.44588683
9	protein complex biogenesis (GO:0070271)	4.35441056
10	protein neddylation (GO:0045116)	4.32716874
11	mitochondrial respiratory chain complex assembly (GO:0033108)	4.04246681
12	behavioral response to nicotine (GO:0035095)	4.04129221
13	chaperone-mediated protein transport (GO:0072321)	3.99345930
14	water-soluble vitamin biosynthetic process (GO:0042364)	3.93582699
15	respiratory electron transport chain (GO:0022904)	3.87328514
16	electron transport chain (GO:0022900)	3.86999524
17	translational termination (GO:0006415)	3.66970257
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.63673141
19	viral transcription (GO:0019083)	3.63161570
20	DNA deamination (GO:0045006)	3.62041250
21	cotranslational protein targeting to membrane (GO:0006613)	3.58526391
22	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.55769723
23	protein targeting to ER (GO:0045047)	3.54120180
24	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.51841728
25	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.43180370
26	termination of RNA polymerase III transcription (GO:0006386)	3.43180370
27	establishment of protein localization to endoplasmic reticulum (GO:0072599)	3.38690953
28	protein localization to endoplasmic reticulum (GO:0070972)	3.29055756
29	pattern specification involved in kidney development (GO:0061004)	3.28298038
30	centriole replication (GO:0007099)	3.25595715
31	chromatin remodeling at centromere (GO:0031055)	3.18781976
32	somite development (GO:0061053)	3.18760332
33	response to pheromone (GO:0019236)	3.14992269
34	regulation of feeding behavior (GO:0060259)	3.13599593
35	gamma-aminobutyric acid transport (GO:0015812)	3.09355305
36	thalamus development (GO:0021794)	3.06315945
37	translational elongation (GO:0006414)	3.03002393
38	ribosomal small subunit assembly (GO:0000028)	3.01159450
39	organelle disassembly (GO:1903008)	3.00547117
40	cell proliferation in forebrain (GO:0021846)	2.96866627
41	CENP-A containing nucleosome assembly (GO:0034080)	2.96596328
42	neurofilament cytoskeleton organization (GO:0060052)	2.95329577
43	pyrimidine nucleobase catabolic process (GO:0006208)	2.93410143
44	protein localization to cilium (GO:0061512)	2.93170171
45	protein polyglutamylation (GO:0018095)	2.89581007
46	intracellular protein transmembrane import (GO:0044743)	2.88772061
47	inner mitochondrial membrane organization (GO:0007007)	2.86399161
48	proteasome assembly (GO:0043248)	2.84481654
49	protein-cofactor linkage (GO:0018065)	2.76840324
50	hydrogen ion transmembrane transport (GO:1902600)	2.76290806
51	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.76094965
52	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.76094965
53	signal peptide processing (GO:0006465)	2.75567581
54	single strand break repair (GO:0000012)	2.75230621
55	histone exchange (GO:0043486)	2.74753966
56	respiratory chain complex IV assembly (GO:0008535)	2.74389673
57	positive regulation of gastrulation (GO:2000543)	2.71113418
58	cellular protein complex disassembly (GO:0043624)	2.68362683
59	cilium morphogenesis (GO:0060271)	2.67057079
60	preassembly of GPI anchor in ER membrane (GO:0016254)	2.66766930
61	epithelial cilium movement (GO:0003351)	2.66669450
62	proton transport (GO:0015992)	2.64580725
63	ATP biosynthetic process (GO:0006754)	2.64507079
64	translation (GO:0006412)	2.63791804
65	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.61517084
66	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.60532562
67	intraciliary transport (GO:0042073)	2.58904362
68	hydrogen transport (GO:0006818)	2.58859334
69	regulation of action potential (GO:0098900)	2.58600072
70	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.58362442
71	translational initiation (GO:0006413)	2.57761837
72	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.57399582
73	regulation of mitotic spindle checkpoint (GO:1903504)	2.54907860
74	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.54907860
75	somite rostral/caudal axis specification (GO:0032525)	2.54404043
76	nonmotile primary cilium assembly (GO:0035058)	2.53509159
77	viral life cycle (GO:0019058)	2.53232719
78	anterograde synaptic vesicle transport (GO:0048490)	2.51862333
79	regulation of cilium movement (GO:0003352)	2.50804039
80	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.49820951
81	nucleobase catabolic process (GO:0046113)	2.49098103
82	cytochrome complex assembly (GO:0017004)	2.46570557
83	head development (GO:0060322)	2.46277809
84	pituitary gland development (GO:0021983)	2.46209897
85	platelet dense granule organization (GO:0060155)	2.45668374
86	intracellular protein transmembrane transport (GO:0065002)	2.44266799
87	ncRNA catabolic process (GO:0034661)	2.43382997
88	presynaptic membrane organization (GO:0097090)	2.42363431
89	ribosomal small subunit biogenesis (GO:0042274)	2.42326873
90	spinal cord development (GO:0021510)	2.40316846
91	nephron tubule morphogenesis (GO:0072078)	2.38199150
92	nephron epithelium morphogenesis (GO:0072088)	2.38199150
93	kidney morphogenesis (GO:0060993)	2.36352851
94	parturition (GO:0007567)	2.36314150
95	detection of light stimulus involved in sensory perception (GO:0050962)	2.36208196
96	detection of light stimulus involved in visual perception (GO:0050908)	2.36208196
97	neuron fate determination (GO:0048664)	2.35284964
98	GTP biosynthetic process (GO:0006183)	2.34892509
99	maturation of SSU-rRNA (GO:0030490)	2.34782252
100	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.34475604

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.12213601
2	VDR_22108803_ChIP-Seq_LS180_Human	3.36627738
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.03197543
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.79585721
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.77183289
6	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.60564306
7	FUS_26573619_Chip-Seq_HEK293_Human	2.55931795
8	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.46320829
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.45527392
10	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.37625345
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.30907888
12	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.29393710
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.27952747
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.26582820
15	EWS_26573619_Chip-Seq_HEK293_Human	2.24256733
16	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.16508123
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.09884244
18	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.06409577
19	P300_19829295_ChIP-Seq_ESCs_Human	1.92521970
20	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.88484920
21	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.88323210
22	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.88301825
23	GBX2_23144817_ChIP-Seq_PC3_Human	1.84712176
24	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.81155622
25	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.80980238
26	TAF15_26573619_Chip-Seq_HEK293_Human	1.80848053
27	ELK1_19687146_ChIP-ChIP_HELA_Human	1.78393211
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.70923426
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.69002439
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.65063126
31	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.62337691
32	RNF2_27304074_Chip-Seq_NSC_Mouse	1.62163853
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.56539894
34	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.55728596
35	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.55728596
36	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.55542998
37	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.51962446
38	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.49695723
39	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.44527098
40	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.42673230
41	REST_21632747_ChIP-Seq_MESCs_Mouse	1.42669745
42	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.40224916
43	TP53_22573176_ChIP-Seq_HFKS_Human	1.38478816
44	VDR_23849224_ChIP-Seq_CD4+_Human	1.37220072
45	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.34431604
46	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.28218158
47	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.27996523
48	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.26769144
49	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.24551723
50	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.24519329
51	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.23537806
52	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.23231831
53	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.22615925
54	BCAT_22108803_ChIP-Seq_LS180_Human	1.22354172
55	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.22316834
56	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.21404035
57	AR_25329375_ChIP-Seq_VCAP_Human	1.21102908
58	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.19960605
59	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.19931958
60	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.19314239
61	CBP_20019798_ChIP-Seq_JUKART_Human	1.19314239
62	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.18486043
63	IRF1_19129219_ChIP-ChIP_H3396_Human	1.16699896
64	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.16624178
65	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.16437708
66	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.16274239
67	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.16266537
68	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.11674654
69	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.11269681
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.10694080
71	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.10694080
72	SMAD4_21799915_ChIP-Seq_A2780_Human	1.08909781
73	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.08519025
74	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.08337747
75	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07518340
76	NANOG_19829295_ChIP-Seq_ESCs_Human	1.07112169
77	SOX2_19829295_ChIP-Seq_ESCs_Human	1.07112169
78	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.07021296
79	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.06998285
80	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.05074951
81	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.04738886
82	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.04059523
83	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03597293
84	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.03536713
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.03191609
86	FOXP3_21729870_ChIP-Seq_TREG_Human	1.02901683
87	TCF4_22108803_ChIP-Seq_LS180_Human	1.02317484
88	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.01889310
89	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.00628598
90	IGF1R_20145208_ChIP-Seq_DFB_Human	1.00467307
91	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.99655259
92	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.99580526
93	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.99425682
94	TTF2_22483619_ChIP-Seq_HELA_Human	0.98913785
95	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.98813036
96	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.98027032
97	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.97649917
98	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.97495264
99	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.96923193
100	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.96595915

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	4.02402053
2	MP0003787_abnormal_imprinting	3.43820252
3	MP0003136_yellow_coat_color	3.43430368
4	MP0008877_abnormal_DNA_methylation	3.06960812
5	MP0009379_abnormal_foot_pigmentation	3.00506757
6	MP0003122_maternal_imprinting	2.91500172
7	MP0003880_abnormal_central_pattern	2.89459365
8	MP0003283_abnormal_digestive_organ	2.33155876
9	MP0002837_dystrophic_cardiac_calcinosis	2.28380728
10	MP0006072_abnormal_retinal_apoptosis	2.24674400
11	MP0003121_genomic_imprinting	2.21130075
12	MP0004142_abnormal_muscle_tone	1.98174493
13	MP0002938_white_spotting	1.96131073
14	MP0002163_abnormal_gland_morphology	1.95377802
15	MP0006276_abnormal_autonomic_nervous	1.81986198
16	MP0002909_abnormal_adrenal_gland	1.79899430
17	MP0002272_abnormal_nervous_system	1.78659673
18	MP0002928_abnormal_bile_duct	1.71214108
19	MP0002160_abnormal_reproductive_system	1.69719113
20	MP0004145_abnormal_muscle_electrophysio	1.68170108
21	MP0001968_abnormal_touch/_nociception	1.66416154
22	MP0009046_muscle_twitch	1.66282252
23	MP0002102_abnormal_ear_morphology	1.65542292
24	MP0005379_endocrine/exocrine_gland_phen	1.64813065
25	MP0002736_abnormal_nociception_after	1.64006950
26	MP0002876_abnormal_thyroid_physiology	1.62348437
27	MP0005084_abnormal_gallbladder_morpholo	1.56837314
28	MP0005551_abnormal_eye_electrophysiolog	1.56009313
29	MP0002653_abnormal_ependyma_morphology	1.55507628
30	MP0001984_abnormal_olfaction	1.54842871
31	MP0000631_abnormal_neuroendocrine_gland	1.54559367
32	MP0001529_abnormal_vocalization	1.48746650
33	MP0009745_abnormal_behavioral_response	1.48269778
34	MP0005075_abnormal_melanosome_morpholog	1.46409296
35	MP0000778_abnormal_nervous_system	1.45727280
36	MP0002751_abnormal_autonomic_nervous	1.45660510
37	MP0005389_reproductive_system_phenotype	1.45436306
38	MP0002638_abnormal_pupillary_reflex	1.42384788
39	MP0008789_abnormal_olfactory_epithelium	1.36434078
40	MP0002095_abnormal_skin_pigmentation	1.36049079
41	MP0003195_calcinosis	1.33581133
42	MP0005423_abnormal_somatic_nervous	1.33540015
43	MP0004885_abnormal_endolymph	1.30174808
44	MP0003011_delayed_dark_adaptation	1.30120081
45	MP0001485_abnormal_pinna_reflex	1.28196775
46	MP0008058_abnormal_DNA_repair	1.27748966
47	MP0001293_anophthalmia	1.26738971
48	MP0000049_abnormal_middle_ear	1.24049191
49	MP0003646_muscle_fatigue	1.22437810
50	MP0005499_abnormal_olfactory_system	1.21853474
51	MP0005394_taste/olfaction_phenotype	1.21853474
52	MP0005645_abnormal_hypothalamus_physiol	1.21397386
53	MP0003567_abnormal_fetal_cardiomyocyte	1.21342130
54	MP0001905_abnormal_dopamine_level	1.20669774
55	MP0001970_abnormal_pain_threshold	1.20185217
56	MP0003937_abnormal_limbs/digits/tail_de	1.17843211
57	MP0002277_abnormal_respiratory_mucosa	1.12262837
58	MP0005253_abnormal_eye_physiology	1.12204874
59	MP0002557_abnormal_social/conspecific_i	1.11593425
60	MP0004019_abnormal_vitamin_homeostasis	1.10948716
61	MP0002184_abnormal_innervation	1.09984130
62	MP0005174_abnormal_tail_pigmentation	1.08946874
63	MP0002735_abnormal_chemical_nociception	1.06980158
64	MP0005646_abnormal_pituitary_gland	1.05799326
65	MP0004133_heterotaxia	1.05153356
66	MP0002572_abnormal_emotion/affect_behav	1.04325723
67	MP0002067_abnormal_sensory_capabilities	1.03626914
68	MP0002734_abnormal_mechanical_nocicepti	1.03110700
69	MP0002733_abnormal_thermal_nociception	1.00039653
70	MP0002752_abnormal_somatic_nervous	0.98927735
71	MP0004742_abnormal_vestibular_system	0.98069164
72	MP0003890_abnormal_embryonic-extraembry	0.97318759
73	MP0003635_abnormal_synaptic_transmissio	0.97124289
74	MP0000955_abnormal_spinal_cord	0.97052566
75	MP0005195_abnormal_posterior_eye	0.95420483
76	MP0001286_abnormal_eye_development	0.94287599
77	MP0002063_abnormal_learning/memory/cond	0.93989537
78	MP0001486_abnormal_startle_reflex	0.92409183
79	MP0001919_abnormal_reproductive_system	0.90398155
80	MP0001501_abnormal_sleep_pattern	0.88262370
81	MP0001756_abnormal_urination	0.87530999
82	MP0001440_abnormal_grooming_behavior	0.86274474
83	MP0002064_seizures	0.85923226
84	MP0000569_abnormal_digit_pigmentation	0.85161994
85	MP0005332_abnormal_amino_acid	0.85149859
86	MP0000026_abnormal_inner_ear	0.85016996
87	MP0001324_abnormal_eye_pigmentation	0.84260712
88	MP0002210_abnormal_sex_determination	0.83568072
89	MP0008872_abnormal_physiological_respon	0.79652655
90	MP0001944_abnormal_pancreas_morphology	0.78522805
91	MP0001542_abnormal_bone_strength	0.77444079
92	MP0003186_abnormal_redox_activity	0.77399429
93	MP0002882_abnormal_neuron_morphology	0.77308481
94	MP0003718_maternal_effect	0.76105031
95	MP0008995_early_reproductive_senescence	0.73331998
96	MP0000372_irregular_coat_pigmentation	0.72386114
97	MP0003878_abnormal_ear_physiology	0.70943719
98	MP0005377_hearing/vestibular/ear_phenot	0.70943719
99	MP0003252_abnormal_bile_duct	0.69439812
100	MP0002229_neurodegeneration	0.69094187

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.29040022
2	Abnormality of midbrain morphology (HP:0002418)	4.29040022
3	Pancreatic cysts (HP:0001737)	3.92354398
4	Acute necrotizing encephalopathy (HP:0006965)	3.83700054
5	Pancreatic fibrosis (HP:0100732)	3.81498720
6	Mitochondrial inheritance (HP:0001427)	3.70561050
7	Nephronophthisis (HP:0000090)	3.67835488
8	Reticulocytopenia (HP:0001896)	3.46568492
9	Increased CSF lactate (HP:0002490)	3.40452952
10	Abnormality of cells of the erythroid lineage (HP:0012130)	3.35240873
11	Abnormal number of erythroid precursors (HP:0012131)	3.32427481
12	True hermaphroditism (HP:0010459)	3.29266424
13	Abnormal mitochondria in muscle tissue (HP:0008316)	3.26381229
14	Increased hepatocellular lipid droplets (HP:0006565)	3.26260706
15	Progressive macrocephaly (HP:0004481)	3.23826686
16	Acute encephalopathy (HP:0006846)	3.19323612
17	Medial flaring of the eyebrow (HP:0010747)	3.14989855
18	Hepatocellular necrosis (HP:0001404)	3.06114205
19	Hepatic necrosis (HP:0002605)	3.02471580
20	Abnormality of renal resorption (HP:0011038)	2.99456760
21	Lipid accumulation in hepatocytes (HP:0006561)	2.98161596
22	Abnormality of the renal medulla (HP:0100957)	2.91443981
23	Large for gestational age (HP:0001520)	2.88027677
24	Cystic liver disease (HP:0006706)	2.77836163
25	Macrocytic anemia (HP:0001972)	2.68401904
26	Rib fusion (HP:0000902)	2.67816664
27	Myokymia (HP:0002411)	2.63486788
28	Renal Fanconi syndrome (HP:0001994)	2.60817797
29	Renal cortical cysts (HP:0000803)	2.56232554
30	Chronic hepatic failure (HP:0100626)	2.55367735
31	3-Methylglutaconic aciduria (HP:0003535)	2.52055931
32	Hyperglycinemia (HP:0002154)	2.46396705
33	Pendular nystagmus (HP:0012043)	2.45402025
34	Cerebral edema (HP:0002181)	2.41114970
35	Abnormality of the renal cortex (HP:0011035)	2.35472611
36	Anencephaly (HP:0002323)	2.32693707
37	Sclerocornea (HP:0000647)	2.30878336
38	Septo-optic dysplasia (HP:0100842)	2.29721651
39	Abnormal rod and cone electroretinograms (HP:0008323)	2.29453215
40	Methylmalonic acidemia (HP:0002912)	2.27456972
41	Gait imbalance (HP:0002141)	2.25874616
42	Methylmalonic aciduria (HP:0012120)	2.21857649
43	Congenital stationary night blindness (HP:0007642)	2.18078890
44	Abnormality of the anterior horn cell (HP:0006802)	2.16348236
45	Degeneration of anterior horn cells (HP:0002398)	2.16348236
46	Congenital, generalized hypertrichosis (HP:0004540)	2.15925941
47	Duplicated collecting system (HP:0000081)	2.15610404
48	Increased serum lactate (HP:0002151)	2.15295583
49	Intestinal atresia (HP:0011100)	2.14734481
50	Congenital primary aphakia (HP:0007707)	2.12188330
51	Abnormality of the labia minora (HP:0012880)	2.11382468
52	Abnormality of urine glucose concentration (HP:0011016)	2.10603019
53	Glycosuria (HP:0003076)	2.10603019
54	Agitation (HP:0000713)	2.09882120
55	Abnormality of the renal collecting system (HP:0004742)	2.09850574
56	Polydipsia (HP:0001959)	2.08969781
57	Abnormal drinking behavior (HP:0030082)	2.08969781
58	Hypoglycemic coma (HP:0001325)	2.08867378
59	Hyperinsulinemic hypoglycemia (HP:0000825)	2.07085895
60	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.05112875
61	Tubular atrophy (HP:0000092)	2.05040344
62	Optic disc pallor (HP:0000543)	2.01743052
63	Male pseudohermaphroditism (HP:0000037)	2.01037838
64	Respiratory failure (HP:0002878)	1.97511306
65	Lactic acidosis (HP:0003128)	1.94673926
66	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.92583903
67	Postaxial hand polydactyly (HP:0001162)	1.89194275
68	Poor suck (HP:0002033)	1.88344092
69	Abnormality of the pons (HP:0007361)	1.87293589
70	Limb dystonia (HP:0002451)	1.86495538
71	Progressive cerebellar ataxia (HP:0002073)	1.86220904
72	Postaxial foot polydactyly (HP:0001830)	1.84280232
73	Nephrogenic diabetes insipidus (HP:0009806)	1.83877794
74	Absent thumb (HP:0009777)	1.83330151
75	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.82908124
76	Hypothermia (HP:0002045)	1.82341659
77	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.82324985
78	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.82324985
79	Exertional dyspnea (HP:0002875)	1.80612219
80	Broad-based gait (HP:0002136)	1.79125010
81	Leukodystrophy (HP:0002415)	1.78412971
82	Homocystinuria (HP:0002156)	1.78241443
83	Abnormality of homocysteine metabolism (HP:0010919)	1.78241443
84	Gaze-evoked nystagmus (HP:0000640)	1.74175630
85	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.74126995
86	Genital tract atresia (HP:0001827)	1.73812810
87	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.73621594
88	Hypomagnesemia (HP:0002917)	1.71871438
89	Polyuria (HP:0000103)	1.71014300
90	Disproportionate short-trunk short stature (HP:0003521)	1.70814431
91	Increased intramyocellular lipid droplets (HP:0012240)	1.69474452
92	Stenosis of the external auditory canal (HP:0000402)	1.69024903
93	Congenital hepatic fibrosis (HP:0002612)	1.68634365
94	Genetic anticipation (HP:0003743)	1.67943247
95	Median cleft lip (HP:0000161)	1.66776005
96	Nausea (HP:0002018)	1.65697977
97	Absent septum pellucidum (HP:0001331)	1.65227761
98	Tachypnea (HP:0002789)	1.65165376
99	Vaginal atresia (HP:0000148)	1.64953788
100	Abolished electroretinogram (ERG) (HP:0000550)	1.64863027

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TNIK	3.36205194
2	WNK4	3.04636496
3	FRK	2.85912063
4	CASK	2.48635796
5	BMPR1B	2.46680685
6	STK39	2.44587447
7	ADRBK2	2.30419657
8	NUAK1	2.29956186
9	MKNK2	2.27366161
10	DYRK2	1.94311510
11	TLK1	1.92884098
12	GRK1	1.88477668
13	STK16	1.88398436
14	TRIM28	1.87829635
15	MAPK13	1.83050162
16	PNCK	1.76690118
17	ZAK	1.75537481
18	WNK3	1.75428726
19	PAK3	1.72035838
20	TXK	1.71311509
21	PINK1	1.65115085
22	VRK1	1.62680478
23	MAP3K9	1.58914297
24	PLK2	1.56318144
25	MARK1	1.50499935
26	PLK3	1.40365919
27	MKNK1	1.39942891
28	VRK2	1.36277728
29	TAOK3	1.24611356
30	PRKCG	1.22978905
31	OXSR1	1.19460579
32	BCR	1.16470696
33	MAPK15	1.16185620
34	MAP3K4	1.14141243
35	NLK	1.11817940
36	CDC7	1.10457951
37	MAP4K2	1.09275590
38	TSSK6	1.08393852
39	MAP3K12	1.05857717
40	CSNK1G2	1.04625540
41	PASK	0.89716612
42	INSRR	0.87139773
43	MAP2K7	0.86718085
44	DYRK3	0.86498968
45	CSNK1G1	0.86458306
46	PHKG2	0.86143781
47	PHKG1	0.86143781
48	MINK1	0.84882110
49	EIF2AK3	0.84145039
50	PLK4	0.82149459
51	MAPKAPK5	0.81451738
52	WEE1	0.79421472
53	EPHA4	0.78555023
54	EPHB2	0.77916557
55	STK24	0.73307711
56	TGFBR1	0.70799401
57	NEK1	0.70541791
58	PRKCE	0.70538170
59	CSNK1G3	0.70003967
60	NEK2	0.67159010
61	PLK1	0.65612375
62	PIK3CA	0.65058907
63	TIE1	0.64374473
64	ADRBK1	0.63079872
65	NTRK2	0.61031417
66	CSNK1E	0.58917436
67	KIT	0.58047842
68	NTRK3	0.56256031
69	MAPKAPK3	0.55713017
70	PRKCQ	0.55132528
71	CSNK1A1	0.52998267
72	FGFR2	0.49862818
73	CDK8	0.49642541
74	ABL2	0.49379769
75	BUB1	0.48763355
76	PRKACA	0.48089351
77	BCKDK	0.47400958
78	WNK1	0.47341584
79	DYRK1A	0.46502943
80	STK38L	0.45180377
81	STK11	0.44555350
82	MAP2K4	0.43771655
83	CAMK2D	0.42020786
84	CAMK2A	0.41305676
85	CSNK2A2	0.40244303
86	MST4	0.40169601
87	CCNB1	0.40007000
88	DAPK2	0.39478281
89	CSNK2A1	0.39355330
90	PRKCI	0.38566539
91	TEC	0.36023002
92	PRKG1	0.35780028
93	CSNK1A1L	0.34848743
94	PRKCA	0.33917155
95	ACVR1B	0.33900703
96	AURKA	0.33676184
97	EIF2AK2	0.32915416
98	TAF1	0.30795800
99	RPS6KA5	0.30516207
100	SGK1	0.30057089

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.50933246
2	Protein export_Homo sapiens_hsa03060	4.39506980
3	Ribosome_Homo sapiens_hsa03010	3.83099873
4	Parkinsons disease_Homo sapiens_hsa05012	3.73360455
5	RNA polymerase_Homo sapiens_hsa03020	2.65170343
6	Huntingtons disease_Homo sapiens_hsa05016	2.59083787
7	Alzheimers disease_Homo sapiens_hsa05010	2.56495303
8	Cardiac muscle contraction_Homo sapiens_hsa04260	2.56137916
9	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.35767800
10	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.16443377
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.11911091
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.02944722
13	Proteasome_Homo sapiens_hsa03050	1.99651532
14	Phototransduction_Homo sapiens_hsa04744	1.84565306
15	Homologous recombination_Homo sapiens_hsa03440	1.79679952
16	Folate biosynthesis_Homo sapiens_hsa00790	1.74948193
17	RNA degradation_Homo sapiens_hsa03018	1.70740472
18	Basal transcription factors_Homo sapiens_hsa03022	1.63235718
19	Nicotine addiction_Homo sapiens_hsa05033	1.40349556
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.31459604
21	Collecting duct acid secretion_Homo sapiens_hsa04966	1.27015474
22	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.22736938
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.22480832
24	Propanoate metabolism_Homo sapiens_hsa00640	1.21190037
25	Sulfur relay system_Homo sapiens_hsa04122	1.16949476
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.16064619
27	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.14329526
28	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.14320036
29	Insulin secretion_Homo sapiens_hsa04911	1.10950562
30	Purine metabolism_Homo sapiens_hsa00230	1.07797786
31	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.06402058
32	One carbon pool by folate_Homo sapiens_hsa00670	1.05515483
33	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.03165030
34	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.01438218
35	Pyrimidine metabolism_Homo sapiens_hsa00240	1.01249106
36	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.00873898
37	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00355346
38	Regulation of autophagy_Homo sapiens_hsa04140	0.99794231
39	Nitrogen metabolism_Homo sapiens_hsa00910	0.99504629
40	Morphine addiction_Homo sapiens_hsa05032	0.98004357
41	Non-homologous end-joining_Homo sapiens_hsa03450	0.97226871
42	Butanoate metabolism_Homo sapiens_hsa00650	0.93703110
43	Mismatch repair_Homo sapiens_hsa03430	0.92254669
44	Sulfur metabolism_Homo sapiens_hsa00920	0.88038488
45	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.86800241
46	Selenocompound metabolism_Homo sapiens_hsa00450	0.85838791
47	Spliceosome_Homo sapiens_hsa03040	0.85512461
48	Olfactory transduction_Homo sapiens_hsa04740	0.85032960
49	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.83756940
50	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82693375
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.82659086
52	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.82255100
53	Ether lipid metabolism_Homo sapiens_hsa00565	0.82140971
54	Taste transduction_Homo sapiens_hsa04742	0.80334956
55	Peroxisome_Homo sapiens_hsa04146	0.79814350
56	RNA transport_Homo sapiens_hsa03013	0.79737629
57	DNA replication_Homo sapiens_hsa03030	0.77102990
58	Circadian entrainment_Homo sapiens_hsa04713	0.76974034
59	GABAergic synapse_Homo sapiens_hsa04727	0.73221473
60	Glutamatergic synapse_Homo sapiens_hsa04724	0.71937080
61	Metabolic pathways_Homo sapiens_hsa01100	0.70240206
62	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.69760583
63	Nucleotide excision repair_Homo sapiens_hsa03420	0.66644668
64	Basal cell carcinoma_Homo sapiens_hsa05217	0.65265921
65	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.64832453
66	Pyruvate metabolism_Homo sapiens_hsa00620	0.61896801
67	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.61531067
68	Base excision repair_Homo sapiens_hsa03410	0.61173012
69	Chemical carcinogenesis_Homo sapiens_hsa05204	0.61146619
70	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.60643449
71	Tryptophan metabolism_Homo sapiens_hsa00380	0.60278705
72	Glycerolipid metabolism_Homo sapiens_hsa00561	0.58113639
73	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.57689911
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.53944517
75	Fatty acid elongation_Homo sapiens_hsa00062	0.53895651
76	Retinol metabolism_Homo sapiens_hsa00830	0.53756614
77	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.52693933
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.50488854
79	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.49868994
80	Serotonergic synapse_Homo sapiens_hsa04726	0.49641457
81	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.46895826
82	Fat digestion and absorption_Homo sapiens_hsa04975	0.45232149
83	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.45010033
84	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.44969884
85	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.44483398
86	beta-Alanine metabolism_Homo sapiens_hsa00410	0.43923278
87	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.42725854
88	Salivary secretion_Homo sapiens_hsa04970	0.42686780
89	Dopaminergic synapse_Homo sapiens_hsa04728	0.42038270
90	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.41279902
91	p53 signaling pathway_Homo sapiens_hsa04115	0.40213176
92	Amphetamine addiction_Homo sapiens_hsa05031	0.34027029
93	Rheumatoid arthritis_Homo sapiens_hsa05323	0.33256998
94	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.32549898
95	Renin secretion_Homo sapiens_hsa04924	0.32514955
96	Steroid biosynthesis_Homo sapiens_hsa00100	0.32142407
97	Cholinergic synapse_Homo sapiens_hsa04725	0.30618218
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.28426473
99	Caffeine metabolism_Homo sapiens_hsa00232	0.28372741
100	Type I diabetes mellitus_Homo sapiens_hsa04940	0.27624646

SEC63P1

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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