ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	5.11832693
2	protein maturation by protein folding (GO:0022417)	4.70985934
3	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.57399239
4	regulation of mitochondrial translation (GO:0070129)	4.42588470
5	peptidyl-arginine omega-N-methylation (GO:0035247)	4.27257277
6	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	4.22345381
7	protein retention in ER lumen (GO:0006621)	4.21172079
8	base-excision repair, AP site formation (GO:0006285)	4.20115864
9	GDP-mannose metabolic process (GO:0019673)	4.01189339
10	guanosine-containing compound biosynthetic process (GO:1901070)	4.00156635
11	Golgi transport vesicle coating (GO:0048200)	3.96284248
12	COPI coating of Golgi vesicle (GO:0048205)	3.96284248
13	chaperone-mediated protein transport (GO:0072321)	3.89549039
14	mitotic nuclear envelope reassembly (GO:0007084)	3.83229316
15	nuclear envelope reassembly (GO:0031468)	3.83229316
16	pyrimidine nucleotide catabolic process (GO:0006244)	3.78851720
17	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.74946916
18	GTP biosynthetic process (GO:0006183)	3.74405543
19	protein insertion into membrane (GO:0051205)	3.73644142
20	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	3.71761982
21	histone arginine methylation (GO:0034969)	3.71359857
22	UTP biosynthetic process (GO:0006228)	3.69942547
23	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.69207854
24	nucleobase-containing small molecule interconversion (GO:0015949)	3.61454637
25	CTP metabolic process (GO:0046036)	3.56999179
26	CTP biosynthetic process (GO:0006241)	3.56999179
27	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.56864225
28	L-serine metabolic process (GO:0006563)	3.55317790
29	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	3.54742924
30	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	3.52385940
31	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.43409534
32	ATP synthesis coupled proton transport (GO:0015986)	3.43409534
33	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	3.43375664
34	deoxyribonucleotide catabolic process (GO:0009264)	3.41274489
35	proteasome assembly (GO:0043248)	3.41010698
36	protein targeting to mitochondrion (GO:0006626)	3.39105429
37	2-deoxyribonucleotide biosynthetic process (GO:0009265)	3.36832057
38	deoxyribose phosphate biosynthetic process (GO:0046385)	3.36832057
39	UTP metabolic process (GO:0046051)	3.31973761
40	metallo-sulfur cluster assembly (GO:0031163)	3.30945210
41	iron-sulfur cluster assembly (GO:0016226)	3.30945210
42	ribosomal small subunit biogenesis (GO:0042274)	3.30380941
43	proline biosynthetic process (GO:0006561)	3.29054075
44	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	3.27565904
45	peptidyl-arginine methylation (GO:0018216)	3.25771803
46	peptidyl-arginine N-methylation (GO:0035246)	3.25771803
47	establishment of protein localization to mitochondrion (GO:0072655)	3.23773197
48	mitochondrial fusion (GO:0008053)	3.22439029
49	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.20000185
50	respiratory electron transport chain (GO:0022904)	3.19829864
51	positive regulation of mitochondrial fission (GO:0090141)	3.18633668
52	establishment of mitochondrion localization (GO:0051654)	3.17808809
53	electron transport chain (GO:0022900)	3.15595560
54	deoxyribose phosphate catabolic process (GO:0046386)	3.15063772
55	protein complex biogenesis (GO:0070271)	3.05491047
56	protein localization to mitochondrion (GO:0070585)	3.03837158
57	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.03595625
58	regulation of mammary gland epithelial cell proliferation (GO:0033599)	2.96317725
59	2-deoxyribonucleotide metabolic process (GO:0009394)	2.95509163
60	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.95074801
61	establishment of viral latency (GO:0019043)	2.94743211
62	regulation of cellular amino acid metabolic process (GO:0006521)	2.93305891
63	negative regulation of release of cytochrome c from mitochondria (GO:0090201)	2.92531898
64	pentose-phosphate shunt (GO:0006098)	2.91590408
65	mitochondrial respiratory chain complex assembly (GO:0033108)	2.90245547
66	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.89617018
67	NADH dehydrogenase complex assembly (GO:0010257)	2.89617018
68	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.89617018
69	mitochondrial calcium ion transport (GO:0006851)	2.89110789
70	de novo posttranslational protein folding (GO:0051084)	2.87282715
71	regulation of translational fidelity (GO:0006450)	2.86544904
72	glucose catabolic process (GO:0006007)	2.84923113
73	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.82999348
74	formation of translation preinitiation complex (GO:0001731)	2.82462795
75	pentose metabolic process (GO:0019321)	2.81445701
76	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.79879137
77	prostaglandin biosynthetic process (GO:0001516)	2.79843468
78	prostanoid biosynthetic process (GO:0046457)	2.79843468
79	ribosomal small subunit assembly (GO:0000028)	2.79262389
80	viral transcription (GO:0019083)	2.79241452
81	de novo protein folding (GO:0006458)	2.78714725
82	ncRNA 3-end processing (GO:0043628)	2.77277934
83	establishment of integrated proviral latency (GO:0075713)	2.75188945
84	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling	2.74756673
85	deoxyribose phosphate metabolic process (GO:0019692)	2.73001080
86	purine deoxyribonucleotide catabolic process (GO:0009155)	2.70416669
87	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.70042001
88	virion assembly (GO:0019068)	2.69390456
89	negative regulation of ligase activity (GO:0051352)	2.68421401
90	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.68421401
91	translational elongation (GO:0006414)	2.66748251
92	cellular component biogenesis (GO:0044085)	2.65986138
93	mitochondrial fragmentation involved in apoptotic process (GO:0043653)	2.65913527
94	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.63983451
95	termination of RNA polymerase III transcription (GO:0006386)	2.63983451
96	negative regulation of cell size (GO:0045792)	2.63806831
97	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.62548237
98	maturation of SSU-rRNA (GO:0030490)	2.61202202
99	oxidative phosphorylation (GO:0006119)	2.60893165
100	regulation of cellular respiration (GO:0043457)	2.60197413

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.49895672
2	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	3.42521500
3	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	3.23685922
4	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.11294957
5	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.68759790
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.67354659
7	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.52233454
8	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.36336972
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.27618707
10	XRN2_22483619_ChIP-Seq_HELA_Human	2.21291135
11	ZNF263_19887448_ChIP-Seq_K562_Human	2.19921272
12	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	2.17662275
13	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.11660053
14	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	2.06607600
15	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.04323439
16	GABP_19822575_ChIP-Seq_HepG2_Human	2.03239065
17	LXR_22292898_ChIP-Seq_THP-1_Human	2.02516695
18	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.01459068
19	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	2.00478875
20	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.96960142
21	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.93009461
22	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.92536232
23	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.92166312
24	DCP1A_22483619_ChIP-Seq_HELA_Human	1.89281665
25	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.86024273
26	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.78896497
27	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.77916985
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.70164969
29	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.69184859
30	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.69050256
31	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.67662417
32	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.64693667
33	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.64657625
34	VDR_21846776_ChIP-Seq_THP-1_Human	1.63947753
35	P68_20966046_ChIP-Seq_HELA_Human	1.63808501
36	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.60863416
37	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.60225997
38	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.59669159
39	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.59560098
40	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.55995395
41	RACK7_27058665_Chip-Seq_MCF-7_Human	1.54722197
42	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.52008199
43	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.46936871
44	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.45003110
45	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.43885705
46	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.43177305
47	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.37446826
48	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.35467684
49	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.35230655
50	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.34812365
51	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.34470869
52	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.34270685
53	KDM5A_27292631_Chip-Seq_BREAST_Human	1.32833784
54	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.30713778
55	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.30191583
56	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.29366724
57	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.28197506
58	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.27877969
59	TTF2_22483619_ChIP-Seq_HELA_Human	1.27397091
60	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27132728
61	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.26585524
62	SMC4_20622854_ChIP-Seq_HELA_Human	1.24577870
63	* BCL6_27268052_Chip-Seq_Bcells_Human	1.24193896
64	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.22982616
65	TBX5_21415370_ChIP-Seq_HL-1_Mouse	1.22060960
66	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.20974376
67	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.20935540
68	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.19225169
69	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.18789497
70	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.18042455
71	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.17939641
72	SETDB1_19884255_ChIP-Seq_MESCs_Mouse	1.17724561
73	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.17027738
74	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.17020484
75	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.16960130
76	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.16783873
77	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.16205822
78	MYC_22102868_ChIP-Seq_BL_Human	1.15943506
79	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.15335852
80	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	1.15332876
81	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.14032728
82	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.13965716
83	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.12933662
84	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.12456309
85	BCOR_27268052_Chip-Seq_Bcells_Human	1.09420686
86	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.08951997
87	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.08583567
88	FOXP3_21729870_ChIP-Seq_TREG_Human	1.06557193
89	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.04900855
90	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.04658290
91	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.04617664
92	E2F7_22180533_ChIP-Seq_HELA_Human	1.04197365
93	CIITA_25753668_ChIP-Seq_RAJI_Human	1.03912966
94	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.02541979
95	* PHF8_20622854_ChIP-Seq_HELA_Human	1.02232736
96	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	1.01759456
97	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.01212383
98	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	1.01002820
99	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.00929817
100	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.00857070

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010030_abnormal_orbit_morphology	3.36186071
2	MP0002653_abnormal_ependyma_morphology	2.65303599
3	MP0005451_abnormal_body_composition	2.60493421
4	MP0001529_abnormal_vocalization	2.57489247
5	MP0008260_abnormal_autophagy	2.57459086
6	MP0005058_abnormal_lysosome_morphology	2.49016921
7	MP0004859_abnormal_synaptic_plasticity	2.43503467
8	MP0003123_paternal_imprinting	2.26751348
9	MP0003186_abnormal_redox_activity	2.07540106
10	MP0003693_abnormal_embryo_hatching	1.95482952
11	MP0002736_abnormal_nociception_after	1.95256035
12	MP0001727_abnormal_embryo_implantation	1.93197777
13	MP0003122_maternal_imprinting	1.89618726
14	MP0005501_abnormal_skin_physiology	1.89360244
15	MP0004858_abnormal_nervous_system	1.88594422
16	MP0000358_abnormal_cell_content/	1.86568000
17	MP0001905_abnormal_dopamine_level	1.83537849
18	MP0005499_abnormal_olfactory_system	1.81492561
19	MP0005394_taste/olfaction_phenotype	1.81492561
20	MP0008932_abnormal_embryonic_tissue	1.80544119
21	MP0004233_abnormal_muscle_weight	1.76248107
22	MP0003806_abnormal_nucleotide_metabolis	1.73460863
23	MP0000750_abnormal_muscle_regeneration	1.72298247
24	MP0006036_abnormal_mitochondrial_physio	1.71302832
25	MP0000537_abnormal_urethra_morphology	1.70848690
26	MP0008789_abnormal_olfactory_epithelium	1.66613098
27	MP0006035_abnormal_mitochondrial_morpho	1.63853026
28	MP0003111_abnormal_nucleus_morphology	1.57223251
29	MP0002249_abnormal_larynx_morphology	1.57157145
30	MP0005623_abnormal_meninges_morphology	1.57156573
31	MP0000678_abnormal_parathyroid_gland	1.56555299
32	MP0000049_abnormal_middle_ear	1.54396862
33	MP0003329_amyloid_beta_deposits	1.53406736
34	MP0000751_myopathy	1.51967309
35	MP0003077_abnormal_cell_cycle	1.43700983
36	MP0002822_catalepsy	1.39477050
37	MP0000747_muscle_weakness	1.37551299
38	MP0010094_abnormal_chromosome_stability	1.34848053
39	MP0000681_abnormal_thyroid_gland	1.29627994
40	MP0003705_abnormal_hypodermis_morpholog	1.29286179
41	MP0003942_abnormal_urinary_system	1.29195541
42	MP0005083_abnormal_biliary_tract	1.27220995
43	MP0005257_abnormal_intraocular_pressure	1.12346237
44	MP0004270_analgesia	1.11020570
45	MP0001849_ear_inflammation	1.09699283
46	MP0001968_abnormal_touch/_nociception	1.07768911
47	MP0009379_abnormal_foot_pigmentation	1.06020630
48	MP0008007_abnormal_cellular_replicative	1.01032957
49	MP0004133_heterotaxia	0.99332100
50	MP0000778_abnormal_nervous_system	0.96484551
51	MP0002098_abnormal_vibrissa_morphology	0.96259221
52	MP0001346_abnormal_lacrimal_gland	0.95935552
53	MP0000462_abnormal_digestive_system	0.95757166
54	MP0004957_abnormal_blastocyst_morpholog	0.95284685
55	MP0004811_abnormal_neuron_physiology	0.92980306
56	MP0000566_synostosis	0.91089189
57	MP0003786_premature_aging	0.90146340
58	MP0002234_abnormal_pharynx_morphology	0.90116903
59	MP0002089_abnormal_postnatal_growth/wei	0.89633497
60	MP0002557_abnormal_social/conspecific_i	0.87314684
61	MP0009384_cardiac_valve_regurgitation	0.85993459
62	MP0009672_abnormal_birth_weight	0.85897691
63	MP0000026_abnormal_inner_ear	0.85733668
64	MP0008058_abnormal_DNA_repair	0.85335676
65	MP0003635_abnormal_synaptic_transmissio	0.85326706
66	MP0003137_abnormal_impulse_conducting	0.84927368
67	MP0003861_abnormal_nervous_system	0.84279921
68	MP0002152_abnormal_brain_morphology	0.84121959
69	MP0002080_prenatal_lethality	0.82523587
70	MP0005377_hearing/vestibular/ear_phenot	0.82125564
71	MP0003878_abnormal_ear_physiology	0.82125564
72	MP0006292_abnormal_olfactory_placode	0.81953435
73	MP0002572_abnormal_emotion/affect_behav	0.81637345
74	MP0001730_embryonic_growth_arrest	0.81128920
75	MP0003011_delayed_dark_adaptation	0.81065724
76	MP0003634_abnormal_glial_cell	0.80965850
77	MP0000313_abnormal_cell_death	0.80282200
78	MP0006276_abnormal_autonomic_nervous	0.80114777
79	MP0003879_abnormal_hair_cell	0.78744368
80	MP0009046_muscle_twitch	0.78705702
81	MP0010771_integument_phenotype	0.78413721
82	MP0000759_abnormal_skeletal_muscle	0.76999668
83	MP0009053_abnormal_anal_canal	0.76758793
84	MP0000343_altered_response_to	0.76697793
85	MP0005584_abnormal_enzyme/coenzyme_acti	0.76213587
86	MP0005384_cellular_phenotype	0.76143745
87	MP0002882_abnormal_neuron_morphology	0.75461469
88	MP0003121_genomic_imprinting	0.74309367
89	MP0002063_abnormal_learning/memory/cond	0.74268920
90	MP0002163_abnormal_gland_morphology	0.73867942
91	MP0002090_abnormal_vision	0.73085243
92	MP0005248_abnormal_Harderian_gland	0.72484596
93	MP0001984_abnormal_olfaction	0.71680044
94	MP0000955_abnormal_spinal_cord	0.71386125
95	MP0005330_cardiomyopathy	0.70385653
96	MP0002909_abnormal_adrenal_gland	0.70123279
97	MP0000762_abnormal_tongue_morphology	0.69548041
98	MP0009780_abnormal_chondrocyte_physiolo	0.69433444
99	MP0002066_abnormal_motor_capabilities/c	0.68928116
100	MP0003938_abnormal_ear_development	0.68834690

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal mitochondria in muscle tissue (HP:0008316)	4.46330649
2	Acute necrotizing encephalopathy (HP:0006965)	4.02541574
3	Hepatocellular necrosis (HP:0001404)	3.93261220
4	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.80388170
5	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.80388170
6	Mitochondrial inheritance (HP:0001427)	3.73579080
7	Acute encephalopathy (HP:0006846)	3.61929873
8	Hepatic necrosis (HP:0002605)	3.59951976
9	Increased intramyocellular lipid droplets (HP:0012240)	3.56564249
10	Increased muscle lipid content (HP:0009058)	3.36339325
11	Increased CSF lactate (HP:0002490)	3.33389328
12	Hyperacusis (HP:0010780)	3.26013476
13	Ragged-red muscle fibers (HP:0003200)	3.08864250
14	Abnormal gallbladder physiology (HP:0012438)	3.00316893
15	Cholecystitis (HP:0001082)	3.00316893
16	Progressive macrocephaly (HP:0004481)	2.99225104
17	Abnormality of glycolysis (HP:0004366)	2.82987544
18	Hypokinesia (HP:0002375)	2.79171055
19	Myokymia (HP:0002411)	2.76531600
20	Hyperthyroidism (HP:0000836)	2.68410939
21	Insomnia (HP:0100785)	2.68243402
22	Exercise intolerance (HP:0003546)	2.64547564
23	Lactic acidosis (HP:0003128)	2.60927861
24	Overriding aorta (HP:0002623)	2.58287665
25	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.53966684
26	Increased serum lactate (HP:0002151)	2.53471572
27	Respiratory failure (HP:0002878)	2.49102602
28	Renal Fanconi syndrome (HP:0001994)	2.48057872
29	Cerebral edema (HP:0002181)	2.46894983
30	Testicular atrophy (HP:0000029)	2.46034943
31	Lipid accumulation in hepatocytes (HP:0006561)	2.45450882
32	Increased serum pyruvate (HP:0003542)	2.45254161
33	Distal upper limb amyotrophy (HP:0007149)	2.44504765
34	Upper limb amyotrophy (HP:0009129)	2.44504765
35	Hand muscle atrophy (HP:0009130)	2.42678159
36	Distal lower limb muscle weakness (HP:0009053)	2.40688678
37	Cerebral hypomyelination (HP:0006808)	2.39466159
38	Vertebral compression fractures (HP:0002953)	2.38619921
39	Microretrognathia (HP:0000308)	2.37891915
40	Increased hepatocellular lipid droplets (HP:0006565)	2.37875410
41	Opisthotonus (HP:0002179)	2.35234279
42	Emotional lability (HP:0000712)	2.35221089
43	Prolonged neonatal jaundice (HP:0006579)	2.32308719
44	Achilles tendon contracture (HP:0001771)	2.31141200
45	Elfin facies (HP:0004428)	2.30960693
46	Rough bone trabeculation (HP:0100670)	2.30223295
47	Abnormality of cells of the erythroid lineage (HP:0012130)	2.29774318
48	Progressive muscle weakness (HP:0003323)	2.26379463
49	Microvesicular hepatic steatosis (HP:0001414)	2.25320476
50	Abnormal number of erythroid precursors (HP:0012131)	2.25237777
51	Upper limb muscle weakness (HP:0003484)	2.22080307
52	Retinal dysplasia (HP:0007973)	2.21837383
53	Truncus arteriosus (HP:0001660)	2.21719091
54	Broad distal phalanx of finger (HP:0009836)	2.20222188
55	Type I transferrin isoform profile (HP:0003642)	2.19020443
56	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.14202067
57	Abnormal protein N-linked glycosylation (HP:0012347)	2.14202067
58	Abnormal protein glycosylation (HP:0012346)	2.14202067
59	Abnormal glycosylation (HP:0012345)	2.14202067
60	Stridor (HP:0010307)	2.12945418
61	Pointed chin (HP:0000307)	2.01155213
62	Shoulder girdle muscle weakness (HP:0003547)	2.01144405
63	Concave nail (HP:0001598)	1.98767367
64	Progressive microcephaly (HP:0000253)	1.92501016
65	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.92107150
66	Abnormality of the Achilles tendon (HP:0005109)	1.91717157
67	Abnormality of the umbilical cord (HP:0010881)	1.90849525
68	Trismus (HP:0000211)	1.90824697
69	Distal lower limb amyotrophy (HP:0008944)	1.90332369
70	Reticulocytopenia (HP:0001896)	1.89680219
71	Myopathic facies (HP:0002058)	1.89602449
72	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.87573396
73	Down-sloping shoulders (HP:0200021)	1.86119643
74	Hypertensive crisis (HP:0100735)	1.85771203
75	Hydroureter (HP:0000072)	1.85093286
76	Abnormality of reticulocytes (HP:0004312)	1.83991663
77	Reticulocytosis (HP:0001923)	1.81297084
78	Leukodystrophy (HP:0002415)	1.77386962
79	Spastic paraparesis (HP:0002313)	1.76619189
80	Multiple enchondromatosis (HP:0005701)	1.76084647
81	Postnatal microcephaly (HP:0005484)	1.75905232
82	Abnormality of liposaccharide metabolism (HP:0010968)	1.75824530
83	Abnormality of glycosphingolipid metabolism (HP:0004343)	1.75824530
84	Abnormality of glycolipid metabolism (HP:0010969)	1.75824530
85	CNS demyelination (HP:0007305)	1.75672880
86	Fasciculations (HP:0002380)	1.75454352
87	Dicarboxylic aciduria (HP:0003215)	1.75070740
88	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.75070740
89	Difficulty climbing stairs (HP:0003551)	1.74162542
90	Hypercalcemia (HP:0003072)	1.73063433
91	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.72110961
92	Degeneration of anterior horn cells (HP:0002398)	1.71424968
93	Abnormality of the anterior horn cell (HP:0006802)	1.71424968
94	Renal duplication (HP:0000075)	1.69869312
95	Long palpebral fissure (HP:0000637)	1.69452838
96	Growth hormone excess (HP:0000845)	1.68937969
97	Cholelithiasis (HP:0001081)	1.67745737
98	Diminished motivation (HP:0000745)	1.67696003
99	Centrally nucleated skeletal muscle fibers (HP:0003687)	1.67044863
100	Hyperparathyroidism (HP:0000843)	1.66739264

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NME2	4.19746923
2	TESK1	3.78715063
3	TESK2	3.66352973
4	TRIB3	3.33330393
5	VRK2	3.16018338
6	BCKDK	2.96231521
7	PIM2	2.77973359
8	EPHA2	2.75242308
9	LIMK1	2.72649883
10	ARAF	2.68104930
11	SMG1	2.04099733
12	STK16	1.71359539
13	TAOK2	1.68558756
14	PRKD3	1.66607179
15	MAP3K11	1.66559062
16	MAP2K7	1.58420533
17	NME1	1.58185994
18	IRAK3	1.54771326
19	BUB1	1.53932612
20	CSNK1G3	1.53083652
21	PKN2	1.49515359
22	ABL2	1.40155834
23	SIK1	1.38511215
24	AURKA	1.37396470
25	MUSK	1.34160275
26	ILK	1.33587004
27	MAP4K2	1.30475416
28	PAK4	1.27434531
29	EPHB2	1.26611723
30	DAPK1	1.26062163
31	MAPKAPK3	1.20960688
32	CSNK1A1L	1.13584720
33	CSNK1G2	1.13130958
34	PAK6	1.12901217
35	DAPK3	1.11117214
36	BRAF	1.09516081
37	LMTK2	1.07545256
38	EIF2AK1	1.06631231
39	RPS6KA4	1.06599343
40	DYRK2	1.06592768
41	PRKCI	1.06297822
42	SCYL2	0.98777146
43	CAMK2G	0.97749425
44	RPS6KB2	0.97030116
45	KDR	0.96419260
46	SIK2	0.96324912
47	PBK	0.91999735
48	ICK	0.91978543
49	TLK1	0.90975267
50	SRPK1	0.90177499
51	LRRK2	0.86228539
52	CSNK1G1	0.84418384
53	CDK14	0.81620375
54	CDK19	0.80799012
55	CDK8	0.79180847
56	PRKD2	0.75741855
57	CDK11A	0.71061553
58	NEK1	0.70415560
59	RPS6KA5	0.68925834
60	AURKB	0.67555708
61	TRIM28	0.67430954
62	CDC7	0.67345057
63	CDK15	0.66666109
64	CCNB1	0.66402762
65	MAP2K2	0.65967103
66	CDK18	0.65573635
67	VRK1	0.63508556
68	CAMK2B	0.63317941
69	CDK7	0.63258959
70	PAK1	0.62856477
71	PTK2	0.61040910
72	BMX	0.59229143
73	MST1R	0.58392436
74	TTN	0.56831207
75	EPHA4	0.56457676
76	AKT2	0.55228558
77	CHEK2	0.55125279
78	DYRK1B	0.54853777
79	PHKG1	0.53670886
80	PHKG2	0.53670886
81	MARK1	0.53530727
82	NTRK1	0.52529943
83	CAMK2D	0.52156023
84	MAP3K12	0.51569809
85	RPS6KA2	0.51140043
86	MAP3K8	0.47825752
87	PLK1	0.47562526
88	PRPF4B	0.46436856
89	MINK1	0.44529157
90	BRSK1	0.42980876
91	BCR	0.42168953
92	TBK1	0.39687390
93	PKN1	0.38293999
94	MYLK	0.37947440
95	ATR	0.37880358
96	IRAK2	0.33693054
97	CSNK1A1	0.32047036
98	CAMKK1	0.31157186
99	PRKD1	0.30151239
100	MAP2K4	0.30146289

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Sulfur relay system_Homo sapiens_hsa04122	3.40477706
2	Proteasome_Homo sapiens_hsa03050	3.37504293
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.26804794
4	Ribosome_Homo sapiens_hsa03010	2.96843585
5	Base excision repair_Homo sapiens_hsa03410	2.90748132
6	Parkinsons disease_Homo sapiens_hsa05012	2.90581402
7	DNA replication_Homo sapiens_hsa03030	2.69203463
8	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.49522595
9	Biosynthesis of amino acids_Homo sapiens_hsa01230	2.27665726
10	Huntingtons disease_Homo sapiens_hsa05016	2.22206172
11	Pyrimidine metabolism_Homo sapiens_hsa00240	2.21007026
12	RNA polymerase_Homo sapiens_hsa03020	2.12198457
13	Vibrio cholerae infection_Homo sapiens_hsa05110	2.08844815
14	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.04770461
15	Pentose phosphate pathway_Homo sapiens_hsa00030	2.02169461
16	Mismatch repair_Homo sapiens_hsa03430	1.88616162
17	Alzheimers disease_Homo sapiens_hsa05010	1.87208703
18	Fatty acid elongation_Homo sapiens_hsa00062	1.84815611
19	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.81050207
20	Carbon metabolism_Homo sapiens_hsa01200	1.78195859
21	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.74549257
22	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.66508473
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.59325699
24	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.54168114
25	Folate biosynthesis_Homo sapiens_hsa00790	1.48714698
26	Galactose metabolism_Homo sapiens_hsa00052	1.45079026
27	Glutathione metabolism_Homo sapiens_hsa00480	1.40776844
28	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.38142997
29	Cardiac muscle contraction_Homo sapiens_hsa04260	1.37553256
30	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.33021670
31	Spliceosome_Homo sapiens_hsa03040	1.32185566
32	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.31600179
33	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.31550093
34	Nucleotide excision repair_Homo sapiens_hsa03420	1.30670750
35	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.21964173
36	Collecting duct acid secretion_Homo sapiens_hsa04966	1.21592303
37	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.17184637
38	Steroid biosynthesis_Homo sapiens_hsa00100	1.16560379
39	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.15301555
40	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.11501936
41	Pyruvate metabolism_Homo sapiens_hsa00620	1.08750452
42	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.06309830
43	Phenylalanine metabolism_Homo sapiens_hsa00360	1.04479324
44	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.03365292
45	Homologous recombination_Homo sapiens_hsa03440	1.02661752
46	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.01881579
47	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.01252190
48	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.00981318
49	Alcoholism_Homo sapiens_hsa05034	0.98879461
50	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.98845088
51	Purine metabolism_Homo sapiens_hsa00230	0.97655306
52	Sulfur metabolism_Homo sapiens_hsa00920	0.94702120
53	Arginine and proline metabolism_Homo sapiens_hsa00330	0.93469572
54	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.89425531
55	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.85747567
56	Other glycan degradation_Homo sapiens_hsa00511	0.81888265
57	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.78855695
58	Metabolic pathways_Homo sapiens_hsa01100	0.76743391
59	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.76426196
60	Shigellosis_Homo sapiens_hsa05131	0.76104027
61	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.75026243
62	RNA transport_Homo sapiens_hsa03013	0.74615186
63	Lysosome_Homo sapiens_hsa04142	0.73691601
64	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.71730478
65	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.70810117
66	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.70038201
67	Fanconi anemia pathway_Homo sapiens_hsa03460	0.69110018
68	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.66074295
69	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.56194442
70	Tyrosine metabolism_Homo sapiens_hsa00350	0.55741542
71	Bladder cancer_Homo sapiens_hsa05219	0.53202767
72	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.51041099
73	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.49502748
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.48478397
75	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.48235996
76	Peroxisome_Homo sapiens_hsa04146	0.46783811
77	beta-Alanine metabolism_Homo sapiens_hsa00410	0.46543150
78	Fatty acid metabolism_Homo sapiens_hsa01212	0.46390129
79	Salmonella infection_Homo sapiens_hsa05132	0.43557108
80	Protein export_Homo sapiens_hsa03060	0.39361586
81	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.38618034
82	Endocytosis_Homo sapiens_hsa04144	0.38486755
83	AMPK signaling pathway_Homo sapiens_hsa04152	0.37904117
84	Hippo signaling pathway_Homo sapiens_hsa04390	0.37626475
85	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.37324365
86	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.35456556
87	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.35029592
88	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.31325361
89	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.31042173
90	mRNA surveillance pathway_Homo sapiens_hsa03015	0.30640646
91	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.29108395
92	Notch signaling pathway_Homo sapiens_hsa04330	0.25741884
93	Basal cell carcinoma_Homo sapiens_hsa05217	0.25143939
94	Cell cycle_Homo sapiens_hsa04110	0.24947881
95	Axon guidance_Homo sapiens_hsa04360	0.24750651
96	One carbon pool by folate_Homo sapiens_hsa00670	0.24706258
97	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.21684105
98	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.19416820
99	Oocyte meiosis_Homo sapiens_hsa04114	0.18306970
100	p53 signaling pathway_Homo sapiens_hsa04115	0.16892022

C7ORF50

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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