ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	proteasome assembly (GO:0043248)	4.65156485
2	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.50206878
3	protein complex biogenesis (GO:0070271)	4.07526539
4	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.06241557
5	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	4.03532826
6	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	4.01354221
7	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.95497657
8	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.95497657
9	NADH dehydrogenase complex assembly (GO:0010257)	3.95497657
10	mitochondrial respiratory chain complex assembly (GO:0033108)	3.94861045
11	respiratory chain complex IV assembly (GO:0008535)	3.93734414
12	synapsis (GO:0007129)	3.86751515
13	protein-cofactor linkage (GO:0018065)	3.74924890
14	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.60757318
15	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.60757318
16	ATP synthesis coupled proton transport (GO:0015986)	3.57993446
17	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.57993446
18	rRNA modification (GO:0000154)	3.57100799
19	termination of RNA polymerase III transcription (GO:0006386)	3.55500096
20	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.55500096
21	chaperone-mediated protein transport (GO:0072321)	3.54858169
22	regulation of mitotic spindle checkpoint (GO:1903504)	3.53676489
23	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.53676489
24	chromatin remodeling at centromere (GO:0031055)	3.53669176
25	DNA damage response, detection of DNA damage (GO:0042769)	3.50828247
26	pseudouridine synthesis (GO:0001522)	3.49096310
27	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.47164304
28	cytochrome complex assembly (GO:0017004)	3.46162598
29	piRNA metabolic process (GO:0034587)	3.46013854
30	DNA double-strand break processing (GO:0000729)	3.45921636
31	replication fork processing (GO:0031297)	3.45607927
32	CENP-A containing nucleosome assembly (GO:0034080)	3.44037992
33	histone mRNA metabolic process (GO:0008334)	3.42967181
34	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.29812820
35	platelet dense granule organization (GO:0060155)	3.27119693
36	male meiosis I (GO:0007141)	3.26688232
37	water-soluble vitamin biosynthetic process (GO:0042364)	3.26184965
38	spliceosomal snRNP assembly (GO:0000387)	3.22584210
39	cullin deneddylation (GO:0010388)	3.20523926
40	protein deneddylation (GO:0000338)	3.19592867
41	base-excision repair, AP site formation (GO:0006285)	3.18892082
42	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.18855075
43	mitochondrial RNA metabolic process (GO:0000959)	3.18551557
44	histone H2A acetylation (GO:0043968)	3.17217972
45	mannosylation (GO:0097502)	3.16302914
46	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	3.14289472
47	tRNA processing (GO:0008033)	3.12893857
48	DNA catabolic process, exonucleolytic (GO:0000738)	3.11420997
49	DNA deamination (GO:0045006)	3.09247364
50	maturation of 5.8S rRNA (GO:0000460)	3.08280763
51	inner mitochondrial membrane organization (GO:0007007)	3.08155734
52	protein neddylation (GO:0045116)	3.07263073
53	protein K6-linked ubiquitination (GO:0085020)	3.04603259
54	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.03787379
55	regulation of meiosis I (GO:0060631)	3.03230225
56	DNA replication checkpoint (GO:0000076)	3.02923565
57	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	3.01844724
58	respiratory electron transport chain (GO:0022904)	3.01245128
59	electron transport chain (GO:0022900)	2.99068399
60	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.98698799
61	peptidyl-histidine modification (GO:0018202)	2.98108075
62	regulation of mitochondrial translation (GO:0070129)	2.97677271
63	histone exchange (GO:0043486)	2.97330100
64	rRNA methylation (GO:0031167)	2.96931428
65	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.96366264
66	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.96366264
67	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.93453160
68	DNA replication-dependent nucleosome assembly (GO:0006335)	2.91135968
69	DNA replication-dependent nucleosome organization (GO:0034723)	2.91135968
70	recombinational repair (GO:0000725)	2.90862564
71	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.90623765
72	negative regulation of ligase activity (GO:0051352)	2.90623765
73	meiosis I (GO:0007127)	2.90086400
74	double-strand break repair via homologous recombination (GO:0000724)	2.88484376
75	protein targeting to mitochondrion (GO:0006626)	2.88202429
76	resolution of meiotic recombination intermediates (GO:0000712)	2.88033305
77	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.83942268
78	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.83797106
79	mismatch repair (GO:0006298)	2.82463868
80	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.82359920
81	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.82359920
82	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.82359920
83	tRNA metabolic process (GO:0006399)	2.82252119
84	protein localization to mitochondrion (GO:0070585)	2.78825335
85	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.77709505
86	establishment of protein localization to mitochondrion (GO:0072655)	2.76757635
87	centriole replication (GO:0007099)	2.75796955
88	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.75687348
89	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.75687348
90	transcription elongation from RNA polymerase I promoter (GO:0006362)	2.74873054
91	regulation of helicase activity (GO:0051095)	2.73019586
92	positive regulation of ligase activity (GO:0051351)	2.71657032
93	intracellular protein transmembrane import (GO:0044743)	2.70669793
94	termination of RNA polymerase I transcription (GO:0006363)	2.70045382
95	7-methylguanosine mRNA capping (GO:0006370)	2.69537395
96	preassembly of GPI anchor in ER membrane (GO:0016254)	2.68916578
97	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.68609699
98	DNA replication-independent nucleosome assembly (GO:0006336)	2.67913009
99	DNA replication-independent nucleosome organization (GO:0034724)	2.67913009
100	regulation of cellular amino acid metabolic process (GO:0006521)	2.67229143

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.70310943
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.38654252
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	4.01639744
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.55923796
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.22947195
6	E2F7_22180533_ChIP-Seq_HELA_Human	3.04679288
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.03118201
8	ZNF274_21170338_ChIP-Seq_K562_Hela	3.01737361
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.94768265
10	ELK1_19687146_ChIP-ChIP_HELA_Human	2.88186501
11	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.86061472
12	VDR_23849224_ChIP-Seq_CD4+_Human	2.71986220
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.68143619
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.63489385
15	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.60744273
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.60424855
17	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.55102085
18	FOXP3_21729870_ChIP-Seq_TREG_Human	2.29628169
19	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.23419254
20	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.14487372
21	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.08135175
22	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.07510976
23	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	2.02025802
24	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.98431896
25	VDR_22108803_ChIP-Seq_LS180_Human	1.94597869
26	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.94058523
27	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.93959813
28	EWS_26573619_Chip-Seq_HEK293_Human	1.90658827
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.85425706
30	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.81129914
31	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.78007737
32	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.72349058
33	GABP_19822575_ChIP-Seq_HepG2_Human	1.69344985
34	IGF1R_20145208_ChIP-Seq_DFB_Human	1.68747006
35	DCP1A_22483619_ChIP-Seq_HELA_Human	1.65679235
36	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.62549692
37	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.61354078
38	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.60776940
39	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.56856552
40	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.52350537
41	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.51364516
42	FUS_26573619_Chip-Seq_HEK293_Human	1.49392545
43	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.47995988
44	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.47486145
45	TTF2_22483619_ChIP-Seq_HELA_Human	1.45733320
46	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.44989033
47	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.43499593
48	IRF1_19129219_ChIP-ChIP_H3396_Human	1.42182419
49	P300_19829295_ChIP-Seq_ESCs_Human	1.39345584
50	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.35295385
51	TP53_22573176_ChIP-Seq_HFKS_Human	1.34460988
52	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.31023659
53	TAF15_26573619_Chip-Seq_HEK293_Human	1.29465429
54	GBX2_23144817_ChIP-Seq_PC3_Human	1.27335291
55	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.26928793
56	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.20427638
57	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.20337905
58	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.19886861
59	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.19170776
60	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.17578876
61	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.10695775
62	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.10081875
63	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.09400571
64	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.08612093
65	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.08447066
66	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.08141270
67	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.07919815
68	ER_23166858_ChIP-Seq_MCF-7_Human	1.06645320
69	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.05590930
70	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.03776982
71	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.03047624
72	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.98127499
73	KDM5A_27292631_Chip-Seq_BREAST_Human	0.97836779
74	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	0.96665838
75	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.96630950
76	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.96506212
77	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.96494780
78	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.96270916
79	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.95829466
80	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.95233797
81	XRN2_22483619_ChIP-Seq_HELA_Human	0.94858137
82	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	0.92892881
83	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.92577792
84	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.91363673
85	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.91271157
86	SOX2_19829295_ChIP-Seq_ESCs_Human	0.91018000
87	NANOG_19829295_ChIP-Seq_ESCs_Human	0.91018000
88	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.89245059
89	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.88420247
90	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.88420247
91	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.88107398
92	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.86498260
93	CBP_20019798_ChIP-Seq_JUKART_Human	0.86498260
94	BCAT_22108803_ChIP-Seq_LS180_Human	0.86070834
95	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.85472241
96	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.85016224
97	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.84710230
98	AR_20517297_ChIP-Seq_VCAP_Human	0.84371123
99	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.78282607
100	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.77995048

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.41502147
2	MP0008058_abnormal_DNA_repair	4.31934480
3	MP0010094_abnormal_chromosome_stability	2.95586875
4	MP0003718_maternal_effect	2.83974097
5	MP0006292_abnormal_olfactory_placode	2.83895565
6	MP0003693_abnormal_embryo_hatching	2.67420783
7	MP0000569_abnormal_digit_pigmentation	2.47560640
8	MP0006072_abnormal_retinal_apoptosis	2.41016836
9	MP0003195_calcinosis	2.19959843
10	MP0002102_abnormal_ear_morphology	2.19590612
11	MP0003111_abnormal_nucleus_morphology	2.10948471
12	MP0003121_genomic_imprinting	2.03444719
13	MP0001529_abnormal_vocalization	2.02767478
14	MP0003787_abnormal_imprinting	2.01214714
15	MP0003786_premature_aging	1.97852060
16	MP0005075_abnormal_melanosome_morpholog	1.96601450
17	MP0008057_abnormal_DNA_replication	1.95249455
18	MP0002938_white_spotting	1.85630570
19	MP0008789_abnormal_olfactory_epithelium	1.83963673
20	MP0003077_abnormal_cell_cycle	1.83758145
21	MP0008007_abnormal_cellular_replicative	1.83362009
22	MP0004957_abnormal_blastocyst_morpholog	1.79629798
23	MP0001986_abnormal_taste_sensitivity	1.78932773
24	MP0002837_dystrophic_cardiac_calcinosis	1.76496618
25	MP0002736_abnormal_nociception_after	1.75189822
26	MP0008932_abnormal_embryonic_tissue	1.70944284
27	MP0003806_abnormal_nucleotide_metabolis	1.66667800
28	MP0002751_abnormal_autonomic_nervous	1.63420631
29	MP0003186_abnormal_redox_activity	1.63237577
30	MP0001929_abnormal_gametogenesis	1.58820450
31	MP0006035_abnormal_mitochondrial_morpho	1.58506264
32	MP0005551_abnormal_eye_electrophysiolog	1.57279625
33	MP0005253_abnormal_eye_physiology	1.57077722
34	MP0001984_abnormal_olfaction	1.50095930
35	MP0002210_abnormal_sex_determination	1.49272364
36	MP0001293_anophthalmia	1.47966015
37	MP0005394_taste/olfaction_phenotype	1.47803836
38	MP0005499_abnormal_olfactory_system	1.47803836
39	MP0000372_irregular_coat_pigmentation	1.46852051
40	MP0004147_increased_porphyrin_level	1.45823180
41	MP0001968_abnormal_touch/_nociception	1.45278855
42	MP0005084_abnormal_gallbladder_morpholo	1.45038005
43	MP0003890_abnormal_embryonic-extraembry	1.44952805
44	MP0008995_early_reproductive_senescence	1.42593892
45	MP0002095_abnormal_skin_pigmentation	1.42302712
46	MP0006054_spinal_hemorrhage	1.34154321
47	MP0002653_abnormal_ependyma_morphology	1.31033626
48	MP0006036_abnormal_mitochondrial_physio	1.28632871
49	MP0005174_abnormal_tail_pigmentation	1.25881790
50	MP0000653_abnormal_sex_gland	1.22511869
51	MP0003646_muscle_fatigue	1.20437458
52	MP0001145_abnormal_male_reproductive	1.19002773
53	MP0003136_yellow_coat_color	1.18998670
54	MP0003122_maternal_imprinting	1.15385988
55	MP0003880_abnormal_central_pattern	1.13851886
56	MP0001764_abnormal_homeostasis	1.12726095
57	MP0000427_abnormal_hair_cycle	1.12693841
58	MP0002160_abnormal_reproductive_system	1.11217775
59	MP0004142_abnormal_muscle_tone	1.09344641
60	MP0000516_abnormal_urinary_system	1.08896906
61	MP0005367_renal/urinary_system_phenotyp	1.08896906
62	MP0000631_abnormal_neuroendocrine_gland	1.05381847
63	MP0004133_heterotaxia	1.04143510
64	MP0002277_abnormal_respiratory_mucosa	1.03830710
65	MP0003698_abnormal_male_reproductive	1.03417317
66	MP0009697_abnormal_copulation	1.03381428
67	MP0003937_abnormal_limbs/digits/tail_de	1.02790714
68	MP0001119_abnormal_female_reproductive	1.02268542
69	MP0000358_abnormal_cell_content/	1.01184134
70	MP0000647_abnormal_sebaceous_gland	1.00603366
71	MP0005389_reproductive_system_phenotype	0.97834982
72	MP0000015_abnormal_ear_pigmentation	0.97751426
73	MP0003119_abnormal_digestive_system	0.94982598
74	MP0005410_abnormal_fertilization	0.94897119
75	MP0005645_abnormal_hypothalamus_physiol	0.94797909
76	MP0008875_abnormal_xenobiotic_pharmacok	0.93977746
77	MP0002233_abnormal_nose_morphology	0.90581652
78	MP0008872_abnormal_physiological_respon	0.90224143
79	MP0005395_other_phenotype	0.88206555
80	MP0009046_muscle_twitch	0.87610273
81	MP0002254_reproductive_system_inflammat	0.84438551
82	MP0003950_abnormal_plasma_membrane	0.83944804
83	MP0002234_abnormal_pharynx_morphology	0.82963497
84	MP0006276_abnormal_autonomic_nervous	0.78837133
85	MP0005408_hypopigmentation	0.77190127
86	MP0002163_abnormal_gland_morphology	0.76028961
87	MP0005391_vision/eye_phenotype	0.75684001
88	MP0001286_abnormal_eye_development	0.73677048
89	MP0003011_delayed_dark_adaptation	0.73509018
90	MP0000049_abnormal_middle_ear	0.73436318
91	MP0001697_abnormal_embryo_size	0.71680050
92	MP0002735_abnormal_chemical_nociception	0.71639152
93	MP0005195_abnormal_posterior_eye	0.70204345
94	MP0002396_abnormal_hematopoietic_system	0.67135521
95	MP0003567_abnormal_fetal_cardiomyocyte	0.64959025
96	MP0002638_abnormal_pupillary_reflex	0.63588478
97	MP0002161_abnormal_fertility/fecundity	0.63428891
98	MP0001905_abnormal_dopamine_level	0.62918548
99	MP0005266_abnormal_metabolism	0.61982778
100	MP0002928_abnormal_bile_duct	0.60643033

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	3.89696258
2	Mitochondrial inheritance (HP:0001427)	3.66804178
3	Increased CSF lactate (HP:0002490)	3.49271430
4	Acute encephalopathy (HP:0006846)	3.48684517
5	Molar tooth sign on MRI (HP:0002419)	3.48199454
6	Abnormality of midbrain morphology (HP:0002418)	3.48199454
7	Abnormal mitochondria in muscle tissue (HP:0008316)	3.43464330
8	Progressive macrocephaly (HP:0004481)	3.38235204
9	Pancreatic cysts (HP:0001737)	3.33189781
10	Colon cancer (HP:0003003)	3.24781847
11	Pancreatic fibrosis (HP:0100732)	3.22804962
12	Increased hepatocellular lipid droplets (HP:0006565)	3.22778644
13	Lipid accumulation in hepatocytes (HP:0006561)	3.19361649
14	Abnormality of the labia minora (HP:0012880)	3.10970798
15	Hepatocellular necrosis (HP:0001404)	3.07461650
16	True hermaphroditism (HP:0010459)	2.96969387
17	Methylmalonic acidemia (HP:0002912)	2.82715066
18	Hepatic necrosis (HP:0002605)	2.78061331
19	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.73002340
20	Type II lissencephaly (HP:0007260)	2.72215405
21	Nephronophthisis (HP:0000090)	2.68681735
22	Chromsome breakage (HP:0040012)	2.68343907
23	Renal cortical cysts (HP:0000803)	2.65878363
24	Medial flaring of the eyebrow (HP:0010747)	2.63285051
25	Methylmalonic aciduria (HP:0012120)	2.61976761
26	Abnormality of the renal cortex (HP:0011035)	2.56912751
27	Abnormal number of erythroid precursors (HP:0012131)	2.55952144
28	Congenital stationary night blindness (HP:0007642)	2.53027443
29	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.49386974
30	Renal Fanconi syndrome (HP:0001994)	2.48316431
31	Abnormality of the pons (HP:0007361)	2.48061504
32	Hypoplasia of the pons (HP:0012110)	2.44703878
33	Short tibia (HP:0005736)	2.43798324
34	3-Methylglutaconic aciduria (HP:0003535)	2.43719536
35	Type I transferrin isoform profile (HP:0003642)	2.43591966
36	Increased serum lactate (HP:0002151)	2.39455595
37	Cerebral edema (HP:0002181)	2.38618302
38	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.34744050
39	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.33920848
40	Abnormal protein glycosylation (HP:0012346)	2.28076691
41	Abnormal glycosylation (HP:0012345)	2.28076691
42	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.28076691
43	Abnormal protein N-linked glycosylation (HP:0012347)	2.28076691
44	Meckel diverticulum (HP:0002245)	2.25141017
45	Abnormality of the renal medulla (HP:0100957)	2.24775099
46	Bile duct proliferation (HP:0001408)	2.18437123
47	Abnormal biliary tract physiology (HP:0012439)	2.18437123
48	Optic disc pallor (HP:0000543)	2.17686745
49	Abnormality of the ileum (HP:0001549)	2.16518858
50	Cerebellar dysplasia (HP:0007033)	2.15890023
51	Reticulocytopenia (HP:0001896)	2.13882378
52	Abnormality of chromosome stability (HP:0003220)	2.13765315
53	Abnormality of cells of the erythroid lineage (HP:0012130)	2.12295819
54	Increased intramyocellular lipid droplets (HP:0012240)	2.10176703
55	Lactic acidosis (HP:0003128)	2.09445341
56	Hyperglycinemia (HP:0002154)	2.07657517
57	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.06886606
58	Abnormality of DNA repair (HP:0003254)	2.05678056
59	Aplastic anemia (HP:0001915)	2.04458558
60	Congenital primary aphakia (HP:0007707)	2.03740718
61	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.02697932
62	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.02697932
63	Pancytopenia (HP:0001876)	1.99939287
64	Retinal dysplasia (HP:0007973)	1.98939156
65	Sclerocornea (HP:0000647)	1.98449899
66	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.97212080
67	Respiratory failure (HP:0002878)	1.96165841
68	Exertional dyspnea (HP:0002875)	1.96021826
69	Anencephaly (HP:0002323)	1.95932098
70	Gait imbalance (HP:0002141)	1.95339141
71	Abnormality of the renal collecting system (HP:0004742)	1.92032478
72	Stomach cancer (HP:0012126)	1.91253660
73	Pendular nystagmus (HP:0012043)	1.90857018
74	Sloping forehead (HP:0000340)	1.90843593
75	Duplicated collecting system (HP:0000081)	1.90652899
76	Bifid tongue (HP:0010297)	1.90047012
77	Abnormality of the preputium (HP:0100587)	1.88670563
78	Abnormality of methionine metabolism (HP:0010901)	1.87921421
79	Supernumerary spleens (HP:0009799)	1.87750116
80	Hypothermia (HP:0002045)	1.86637939
81	Nephrogenic diabetes insipidus (HP:0009806)	1.85978199
82	Attenuation of retinal blood vessels (HP:0007843)	1.85199448
83	Ectopic kidney (HP:0000086)	1.85129318
84	Small hand (HP:0200055)	1.84563164
85	Birth length less than 3rd percentile (HP:0003561)	1.82966379
86	Dandy-Walker malformation (HP:0001305)	1.81294216
87	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.81077749
88	Horseshoe kidney (HP:0000085)	1.80933763
89	Lethargy (HP:0001254)	1.80316464
90	Lissencephaly (HP:0001339)	1.79875930
91	Progressive inability to walk (HP:0002505)	1.77291421
92	Genital tract atresia (HP:0001827)	1.77013391
93	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.76078018
94	Absent thumb (HP:0009777)	1.75028416
95	Hyperventilation (HP:0002883)	1.74656192
96	Medulloblastoma (HP:0002885)	1.73993966
97	Postaxial foot polydactyly (HP:0001830)	1.72930310
98	Septo-optic dysplasia (HP:0100842)	1.72866489
99	Glioma (HP:0009733)	1.72585110
100	Oligodactyly (hands) (HP:0001180)	1.72539557

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ZAK	3.18115937
2	WNK3	2.93134431
3	FRK	2.85165571
4	VRK2	2.59986102
5	PBK	2.58411371
6	BUB1	2.54118506
7	MAP4K2	2.52539186
8	EIF2AK3	2.40018969
9	NUAK1	2.39760253
10	MST4	2.31176545
11	BMPR1B	2.23454003
12	TNIK	2.22287773
13	SRPK1	2.19435356
14	TRIM28	2.16909059
15	VRK1	2.16836143
16	TSSK6	2.03211785
17	PLK4	1.99600344
18	EIF2AK1	1.91208377
19	PLK3	1.88086156
20	INSRR	1.82810110
21	ADRBK2	1.75723558
22	MKNK2	1.59871778
23	NME1	1.57769079
24	CDC7	1.57581465
25	GRK1	1.54812037
26	TLK1	1.54514891
27	ACVR1B	1.54119303
28	TESK2	1.38040416
29	STK16	1.35268704
30	MAP3K4	1.32764910
31	TXK	1.22236825
32	TAOK3	1.22041142
33	BCKDK	1.16929756
34	TTK	1.15651128
35	PLK1	1.15586822
36	CSNK1G3	1.14627669
37	MAP3K12	1.14050629
38	MAPK13	1.13972468
39	PLK2	1.13705008
40	MKNK1	1.13691659
41	CSNK1G1	1.13339846
42	DYRK2	1.06885989
43	ATR	1.03444389
44	CSNK1G2	1.02920930
45	BRSK2	1.02825057
46	CASK	1.00597322
47	CSNK1A1L	0.99754059
48	NEK1	0.98661674
49	OXSR1	0.89139834
50	STK38L	0.86456038
51	WEE1	0.84109105
52	BCR	0.83194320
53	CDK19	0.79906360
54	CHEK2	0.79837529
55	ERBB3	0.74413826
56	EIF2AK2	0.73250376
57	MAP2K7	0.71216354
58	ATM	0.67963709
59	DYRK3	0.66215073
60	TGFBR1	0.62669913
61	TEC	0.61976688
62	WNK4	0.61492320
63	AURKB	0.59410085
64	RPS6KA5	0.59241426
65	PNCK	0.57850442
66	STK39	0.56641450
67	PTK2B	0.55139658
68	CSNK2A1	0.53058604
69	PAK3	0.51638966
70	PRKCE	0.51198288
71	GRK7	0.48528534
72	MUSK	0.48513974
73	CHEK1	0.47797053
74	PDK2	0.47603552
75	CLK1	0.47504655
76	CCNB1	0.46701866
77	STK3	0.46267315
78	CSNK2A2	0.43447891
79	AURKA	0.41674150
80	ADRBK1	0.39551154
81	IKBKB	0.38328551
82	FLT3	0.38045146
83	PRKCG	0.36918618
84	PIM1	0.36264003
85	RPS6KA4	0.35600482
86	STK4	0.34574984
87	TAF1	0.33648299
88	PIM2	0.31703421
89	PKN1	0.31240338
90	CSNK1E	0.30804382
91	BRSK1	0.30074928
92	NLK	0.29697675
93	PRKCI	0.29228922
94	CDK8	0.28270508
95	RAF1	0.26793403
96	BRD4	0.25554853
97	MARK3	0.25071445
98	PRKACA	0.25042645
99	TIE1	0.24932629
100	CAMK2A	0.24109517

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.77611848
2	Homologous recombination_Homo sapiens_hsa03440	3.36145267
3	RNA polymerase_Homo sapiens_hsa03020	3.34237077
4	Oxidative phosphorylation_Homo sapiens_hsa00190	3.19029116
5	Mismatch repair_Homo sapiens_hsa03430	3.11345229
6	Protein export_Homo sapiens_hsa03060	3.09328769
7	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.02738751
8	Parkinsons disease_Homo sapiens_hsa05012	2.80707940
9	Non-homologous end-joining_Homo sapiens_hsa03450	2.51551540
10	DNA replication_Homo sapiens_hsa03030	2.44450089
11	Ribosome_Homo sapiens_hsa03010	2.42880199
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.42092439
13	Basal transcription factors_Homo sapiens_hsa03022	2.35403189
14	RNA degradation_Homo sapiens_hsa03018	2.18668302
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.16549945
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.08308220
17	Base excision repair_Homo sapiens_hsa03410	2.04649510
18	Huntingtons disease_Homo sapiens_hsa05016	2.02549422
19	Nucleotide excision repair_Homo sapiens_hsa03420	2.00431284
20	Spliceosome_Homo sapiens_hsa03040	1.89377077
21	RNA transport_Homo sapiens_hsa03013	1.85005852
22	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.77450589
23	Pyrimidine metabolism_Homo sapiens_hsa00240	1.72564385
24	Alzheimers disease_Homo sapiens_hsa05010	1.56650839
25	Phototransduction_Homo sapiens_hsa04744	1.54937398
26	One carbon pool by folate_Homo sapiens_hsa00670	1.53462481
27	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.52601106
28	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.52367655
29	Propanoate metabolism_Homo sapiens_hsa00640	1.47943775
30	Steroid biosynthesis_Homo sapiens_hsa00100	1.45840797
31	Selenocompound metabolism_Homo sapiens_hsa00450	1.38053781
32	Purine metabolism_Homo sapiens_hsa00230	1.36928464
33	Fatty acid elongation_Homo sapiens_hsa00062	1.34756757
34	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.33426206
35	Cell cycle_Homo sapiens_hsa04110	1.13962896
36	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.08162625
37	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.04867161
38	Folate biosynthesis_Homo sapiens_hsa00790	1.04285604
39	Butanoate metabolism_Homo sapiens_hsa00650	1.02350435
40	Regulation of autophagy_Homo sapiens_hsa04140	1.01607803
41	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.01294438
42	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.99585900
43	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.94537996
44	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.94086009
45	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.93914721
46	Nitrogen metabolism_Homo sapiens_hsa00910	0.92099793
47	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.90373033
48	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.86213457
49	Peroxisome_Homo sapiens_hsa04146	0.84765484
50	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.82613788
51	Cardiac muscle contraction_Homo sapiens_hsa04260	0.78155837
52	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.77149745
53	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.75551907
54	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.75529036
55	p53 signaling pathway_Homo sapiens_hsa04115	0.75463663
56	Metabolic pathways_Homo sapiens_hsa01100	0.73484441
57	Primary immunodeficiency_Homo sapiens_hsa05340	0.72397415
58	Oocyte meiosis_Homo sapiens_hsa04114	0.67713579
59	mRNA surveillance pathway_Homo sapiens_hsa03015	0.63642713
60	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.61831535
61	Ether lipid metabolism_Homo sapiens_hsa00565	0.61690444
62	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.58578554
63	Collecting duct acid secretion_Homo sapiens_hsa04966	0.53479590
64	Sulfur metabolism_Homo sapiens_hsa00920	0.52697687
65	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.52021448
66	Linoleic acid metabolism_Homo sapiens_hsa00591	0.51269315
67	Pyruvate metabolism_Homo sapiens_hsa00620	0.51259794
68	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.50788823
69	Glutathione metabolism_Homo sapiens_hsa00480	0.49953353
70	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.49097151
71	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.44406274
72	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.43735991
73	Olfactory transduction_Homo sapiens_hsa04740	0.43610509
74	Caffeine metabolism_Homo sapiens_hsa00232	0.40621064
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.35521115
76	Taste transduction_Homo sapiens_hsa04742	0.35092819
77	Tryptophan metabolism_Homo sapiens_hsa00380	0.33154962
78	Sulfur relay system_Homo sapiens_hsa04122	0.32748055
79	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.32411737
80	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.30864437
81	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.28436113
82	Asthma_Homo sapiens_hsa05310	0.27901260
83	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.26243883
84	Nicotine addiction_Homo sapiens_hsa05033	0.25719018
85	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.23866247
86	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.22161530
87	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.21616053
88	Circadian rhythm_Homo sapiens_hsa04710	0.21007076
89	Chemical carcinogenesis_Homo sapiens_hsa05204	0.20077621
90	Legionellosis_Homo sapiens_hsa05134	0.19564469
91	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.19155257
92	beta-Alanine metabolism_Homo sapiens_hsa00410	0.15803916
93	Fatty acid degradation_Homo sapiens_hsa00071	0.13865273
94	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.12713715
95	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.12583192
96	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.11437616
97	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.10485050
98	Retinol metabolism_Homo sapiens_hsa00830	0.09406652
99	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.09090899
100	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.07482107

RNF216P1

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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