ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA double-strand break processing (GO:0000729)	3.93459010
2	behavioral response to nicotine (GO:0035095)	3.86796404
3	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.85294217
4	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.85294217
5	replication fork processing (GO:0031297)	3.75427036
6	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.65494884
7	DNA replication checkpoint (GO:0000076)	3.65305800
8	regulation of gene silencing by RNA (GO:0060966)	3.57756183
9	regulation of posttranscriptional gene silencing (GO:0060147)	3.57756183
10	regulation of gene silencing by miRNA (GO:0060964)	3.57756183
11	respiratory chain complex IV assembly (GO:0008535)	3.42428015
12	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.34128043
13	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.34128043
14	NADH dehydrogenase complex assembly (GO:0010257)	3.34128043
15	protein complex biogenesis (GO:0070271)	3.27715198
16	water-soluble vitamin biosynthetic process (GO:0042364)	3.27615592
17	mitochondrial respiratory chain complex assembly (GO:0033108)	3.22737892
18	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.22735119
19	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.21937227
20	regulation of mitotic spindle checkpoint (GO:1903504)	3.21937227
21	meiotic chromosome segregation (GO:0045132)	3.12716263
22	nonmotile primary cilium assembly (GO:0035058)	3.11595096
23	peptidyl-histidine modification (GO:0018202)	3.10315038
24	reciprocal DNA recombination (GO:0035825)	3.09895597
25	reciprocal meiotic recombination (GO:0007131)	3.09895597
26	rRNA modification (GO:0000154)	3.09145679
27	recombinational repair (GO:0000725)	3.07715003
28	double-strand break repair via homologous recombination (GO:0000724)	3.07201392
29	negative regulation of telomere maintenance (GO:0032205)	3.02954956
30	cytochrome complex assembly (GO:0017004)	3.02298217
31	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.00968604
32	chromatin remodeling at centromere (GO:0031055)	2.99981942
33	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.98254065
34	response to pheromone (GO:0019236)	2.98083631
35	rRNA methylation (GO:0031167)	2.97959812
36	postreplication repair (GO:0006301)	2.97868998
37	DNA deamination (GO:0045006)	2.97487106
38	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.96436303
39	centriole replication (GO:0007099)	2.93974004
40	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.92771780
41	pseudouridine synthesis (GO:0001522)	2.92348282
42	regulation of cilium movement (GO:0003352)	2.90594173
43	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.88827868
44	regulation of translation, ncRNA-mediated (GO:0045974)	2.88827868
45	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.88827868
46	tRNA modification (GO:0006400)	2.88103698
47	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.87010026
48	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.83301662
49	CENP-A containing nucleosome assembly (GO:0034080)	2.79762393
50	translesion synthesis (GO:0019985)	2.78602750
51	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.78542936
52	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.78534940
53	tRNA processing (GO:0008033)	2.77765245
54	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.75707122
55	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.75707122
56	DNA replication-dependent nucleosome assembly (GO:0006335)	2.75641233
57	DNA replication-dependent nucleosome organization (GO:0034723)	2.75641233
58	mitochondrial RNA metabolic process (GO:0000959)	2.75515452
59	regulation of centriole replication (GO:0046599)	2.75231905
60	maturation of 5.8S rRNA (GO:0000460)	2.73302047
61	regulation of hippo signaling (GO:0035330)	2.72878652
62	cullin deneddylation (GO:0010388)	2.71880554
63	ncRNA catabolic process (GO:0034661)	2.70067842
64	DNA strand renaturation (GO:0000733)	2.69981757
65	L-fucose catabolic process (GO:0042355)	2.67337728
66	fucose catabolic process (GO:0019317)	2.67337728
67	L-fucose metabolic process (GO:0042354)	2.67337728
68	DNA catabolic process, exonucleolytic (GO:0000738)	2.67278964
69	lysine metabolic process (GO:0006553)	2.65885695
70	lysine catabolic process (GO:0006554)	2.65885695
71	protein K6-linked ubiquitination (GO:0085020)	2.64651425
72	somatic diversification of immunoglobulins (GO:0016445)	2.63498987
73	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.63285853
74	termination of RNA polymerase III transcription (GO:0006386)	2.63285853
75	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.63272652
76	isotype switching (GO:0045190)	2.63272652
77	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.63272652
78	preassembly of GPI anchor in ER membrane (GO:0016254)	2.62253897
79	regulation of telomere maintenance (GO:0032204)	2.61130605
80	mannosylation (GO:0097502)	2.60278270
81	protein deneddylation (GO:0000338)	2.58822972
82	DNA recombination (GO:0006310)	2.58121216
83	epithelial cilium movement (GO:0003351)	2.56823650
84	cilium morphogenesis (GO:0060271)	2.56356783
85	aspartate family amino acid catabolic process (GO:0009068)	2.54550408
86	sulfation (GO:0051923)	2.54265541
87	histone exchange (GO:0043486)	2.54235137
88	cellular ketone body metabolic process (GO:0046950)	2.53839739
89	indolalkylamine metabolic process (GO:0006586)	2.53021090
90	synapsis (GO:0007129)	2.49855371
91	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.48883384
92	protein-cofactor linkage (GO:0018065)	2.48568318
93	protein polyglutamylation (GO:0018095)	2.47373959
94	tRNA metabolic process (GO:0006399)	2.47027538
95	axoneme assembly (GO:0035082)	2.45650126
96	rRNA catabolic process (GO:0016075)	2.45604076
97	DNA-dependent DNA replication (GO:0006261)	2.44384512
98	cornea development in camera-type eye (GO:0061303)	2.44256458
99	neural tube formation (GO:0001841)	2.43351683
100	L-methionine biosynthetic process (GO:0071265)	2.43123789

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.05938469
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.46626641
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.30314976
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.15815764
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.02288254
6	E2F7_22180533_ChIP-Seq_HELA_Human	2.97307317
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.96390021
8	VDR_22108803_ChIP-Seq_LS180_Human	2.89273984
9	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.84741580
10	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.78359112
11	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.67566257
12	EWS_26573619_Chip-Seq_HEK293_Human	2.41118485
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.37085103
14	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.36811922
15	ELK1_19687146_ChIP-ChIP_HELA_Human	2.31331967
16	MYC_18940864_ChIP-ChIP_HL60_Human	2.25704502
17	FUS_26573619_Chip-Seq_HEK293_Human	2.24911335
18	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.23481293
19	VDR_23849224_ChIP-Seq_CD4+_Human	2.22926371
20	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.16243807
21	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.12990216
22	IRF1_19129219_ChIP-ChIP_H3396_Human	2.02904647
23	IGF1R_20145208_ChIP-Seq_DFB_Human	2.02834119
24	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.91793967
25	FOXP3_21729870_ChIP-Seq_TREG_Human	1.86342939
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.83040610
27	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.80577503
28	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.79586214
29	GBX2_23144817_ChIP-Seq_PC3_Human	1.73216335
30	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.71913510
31	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.69073145
32	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.64535365
33	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.63872976
34	P300_19829295_ChIP-Seq_ESCs_Human	1.62011231
35	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.59519736
36	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.57896295
37	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.57113561
38	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.54716351
39	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.51916733
40	TAF15_26573619_Chip-Seq_HEK293_Human	1.51618269
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.50757566
42	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.50193791
43	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.48237758
44	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.47233177
45	ER_23166858_ChIP-Seq_MCF-7_Human	1.45044951
46	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.41806636
47	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.36267162
48	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.36159223
49	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.34914815
50	* GABP_19822575_ChIP-Seq_HepG2_Human	1.32324360
51	TTF2_22483619_ChIP-Seq_HELA_Human	1.32037324
52	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.25338135
53	DCP1A_22483619_ChIP-Seq_HELA_Human	1.24987339
54	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.24917922
55	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.23625931
56	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.22936704
57	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.22678854
58	CBP_20019798_ChIP-Seq_JUKART_Human	1.22678854
59	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.20470331
60	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.19388440
61	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.15242721
62	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.15242721
63	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.13406724
64	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.12417565
65	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.11004758
66	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.10692495
67	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.10067476
68	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.09226370
69	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.09009610
70	KDM5A_27292631_Chip-Seq_BREAST_Human	1.06131535
71	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.05408432
72	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.04761907
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03398973
74	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03163464
75	* STAT3_23295773_ChIP-Seq_U87_Human	1.03140891
76	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.02261500
77	BCAT_22108803_ChIP-Seq_LS180_Human	1.01956524
78	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.01452256
79	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.00989734
80	* HOXB7_26014856_ChIP-Seq_BT474_Human	1.00852470
81	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.98434868
82	AR_20517297_ChIP-Seq_VCAP_Human	0.98254873
83	TCF4_23295773_ChIP-Seq_U87_Human	0.97775034
84	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.97326471
85	SOX2_19829295_ChIP-Seq_ESCs_Human	0.96999136
86	NANOG_19829295_ChIP-Seq_ESCs_Human	0.96999136
87	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.95729989
88	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.95729989
89	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.95460000
90	XRN2_22483619_ChIP-Seq_HELA_Human	0.95270036
91	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	0.94803541
92	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.94757048
93	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.93393062
94	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.93018912
95	NCOR_22424771_ChIP-Seq_293T_Human	0.92323546
96	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.92261344
97	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.91636069
98	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.91117830
99	TCF4_22108803_ChIP-Seq_LS180_Human	0.90580239
100	AR_25329375_ChIP-Seq_VCAP_Human	0.89499984

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.22981010
2	MP0008058_abnormal_DNA_repair	3.17023847
3	MP0002102_abnormal_ear_morphology	2.84017088
4	MP0006292_abnormal_olfactory_placode	2.63396793
5	MP0003693_abnormal_embryo_hatching	2.56894981
6	MP0010094_abnormal_chromosome_stability	2.48962400
7	MP0003718_maternal_effect	2.27736188
8	MP0001968_abnormal_touch/_nociception	2.09602201
9	MP0002736_abnormal_nociception_after	2.08415630
10	MP0006072_abnormal_retinal_apoptosis	1.92107870
11	MP0005551_abnormal_eye_electrophysiolog	1.89090629
12	MP0003136_yellow_coat_color	1.84327966
13	MP0002938_white_spotting	1.81139387
14	MP0001986_abnormal_taste_sensitivity	1.76065142
15	MP0002234_abnormal_pharynx_morphology	1.73625378
16	MP0008057_abnormal_DNA_replication	1.73593485
17	MP0002653_abnormal_ependyma_morphology	1.69304427
18	MP0001529_abnormal_vocalization	1.67001114
19	MP0004147_increased_porphyrin_level	1.66284692
20	MP0005253_abnormal_eye_physiology	1.66103496
21	MP0008789_abnormal_olfactory_epithelium	1.66070089
22	MP0004133_heterotaxia	1.66052518
23	MP0005645_abnormal_hypothalamus_physiol	1.60955796
24	MP0003111_abnormal_nucleus_morphology	1.56517090
25	MP0001293_anophthalmia	1.56510990
26	MP0001984_abnormal_olfaction	1.50858609
27	MP0005174_abnormal_tail_pigmentation	1.48391525
28	MP0003937_abnormal_limbs/digits/tail_de	1.41501452
29	MP0000427_abnormal_hair_cycle	1.40891431
30	MP0004957_abnormal_blastocyst_morpholog	1.40626903
31	MP0000631_abnormal_neuroendocrine_gland	1.39079886
32	MP0000569_abnormal_digit_pigmentation	1.38404434
33	MP0008872_abnormal_physiological_respon	1.37914314
34	MP0003195_calcinosis	1.35537095
35	MP0003011_delayed_dark_adaptation	1.35101574
36	MP0000383_abnormal_hair_follicle	1.33679540
37	MP0003890_abnormal_embryonic-extraembry	1.32706021
38	MP0002876_abnormal_thyroid_physiology	1.31882849
39	MP0008875_abnormal_xenobiotic_pharmacok	1.29945714
40	MP0005646_abnormal_pituitary_gland	1.28241355
41	MP0006276_abnormal_autonomic_nervous	1.27201731
42	MP0004043_abnormal_pH_regulation	1.26738235
43	MP0003077_abnormal_cell_cycle	1.25678677
44	MP0005394_taste/olfaction_phenotype	1.25221324
45	MP0005499_abnormal_olfactory_system	1.25221324
46	MP0003787_abnormal_imprinting	1.22437667
47	MP0009697_abnormal_copulation	1.21478368
48	MP0003646_muscle_fatigue	1.19582630
49	MP0001929_abnormal_gametogenesis	1.18619842
50	MP0003786_premature_aging	1.17848798
51	MP0008932_abnormal_embryonic_tissue	1.17807641
52	MP0002210_abnormal_sex_determination	1.16590924
53	MP0000372_irregular_coat_pigmentation	1.15661687
54	MP0003121_genomic_imprinting	1.15467437
55	MP0004142_abnormal_muscle_tone	1.14959424
56	MP0001188_hyperpigmentation	1.14246396
57	MP0005084_abnormal_gallbladder_morpholo	1.13327759
58	MP0008007_abnormal_cellular_replicative	1.11609314
59	MP0002638_abnormal_pupillary_reflex	1.10311979
60	MP0009046_muscle_twitch	1.09801680
61	MP0003698_abnormal_male_reproductive	1.07389563
62	MP0002837_dystrophic_cardiac_calcinosis	1.05169187
63	MP0003567_abnormal_fetal_cardiomyocyte	1.03688813
64	MP0003880_abnormal_central_pattern	1.00914802
65	MP0000653_abnormal_sex_gland	1.00587874
66	MP0001145_abnormal_male_reproductive	0.99878623
67	MP0003119_abnormal_digestive_system	0.99460809
68	MP0005075_abnormal_melanosome_morpholog	0.97144427
69	MP0000647_abnormal_sebaceous_gland	0.96241314
70	MP0005367_renal/urinary_system_phenotyp	0.95959992
71	MP0000516_abnormal_urinary_system	0.95959992
72	MP0006035_abnormal_mitochondrial_morpho	0.95823140
73	MP0005391_vision/eye_phenotype	0.94031547
74	MP0002160_abnormal_reproductive_system	0.93413057
75	MP0001485_abnormal_pinna_reflex	0.93207821
76	MP0005171_absent_coat_pigmentation	0.91437121
77	MP0009745_abnormal_behavioral_response	0.90326353
78	MP0005377_hearing/vestibular/ear_phenot	0.90083504
79	MP0003878_abnormal_ear_physiology	0.90083504
80	MP0005410_abnormal_fertilization	0.89736933
81	MP0001486_abnormal_startle_reflex	0.88622109
82	MP0002095_abnormal_skin_pigmentation	0.88591010
83	MP0008995_early_reproductive_senescence	0.88536702
84	MP0002735_abnormal_chemical_nociception	0.86264137
85	MP0000049_abnormal_middle_ear	0.86019740
86	MP0002751_abnormal_autonomic_nervous	0.85693306
87	MP0010030_abnormal_orbit_morphology	0.85612754
88	MP0002272_abnormal_nervous_system	0.84981032
89	MP0005395_other_phenotype	0.84723786
90	MP0005389_reproductive_system_phenotype	0.83313076
91	MP0000566_synostosis	0.83200694
92	MP0001919_abnormal_reproductive_system	0.81989272
93	MP0001324_abnormal_eye_pigmentation	0.81702785
94	MP0002233_abnormal_nose_morphology	0.81028912
95	MP0002928_abnormal_bile_duct	0.80119460
96	MP0005195_abnormal_posterior_eye	0.78600110
97	MP0002557_abnormal_social/conspecific_i	0.78271908
98	MP0002138_abnormal_hepatobiliary_system	0.78191070
99	MP0003137_abnormal_impulse_conducting	0.77510453
100	MP0002752_abnormal_somatic_nervous	0.76822209

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.04206897
2	Molar tooth sign on MRI (HP:0002419)	3.73217526
3	Abnormality of midbrain morphology (HP:0002418)	3.73217526
4	Pancreatic fibrosis (HP:0100732)	3.53997759
5	True hermaphroditism (HP:0010459)	3.26282549
6	Congenital stationary night blindness (HP:0007642)	3.24661364
7	Nephronophthisis (HP:0000090)	3.19659996
8	Chronic hepatic failure (HP:0100626)	2.91825364
9	Medial flaring of the eyebrow (HP:0010747)	2.88802795
10	Colon cancer (HP:0003003)	2.84193411
11	Pendular nystagmus (HP:0012043)	2.79062055
12	Abnormality of the renal medulla (HP:0100957)	2.73244567
13	Attenuation of retinal blood vessels (HP:0007843)	2.66925269
14	Abnormality of the renal cortex (HP:0011035)	2.59823499
15	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.56134899
16	Abnormality of the ileum (HP:0001549)	2.52568571
17	Birth length less than 3rd percentile (HP:0003561)	2.48605884
18	Cystic liver disease (HP:0006706)	2.47052353
19	Type II lissencephaly (HP:0007260)	2.46735703
20	Abnormal biliary tract physiology (HP:0012439)	2.43525448
21	Bile duct proliferation (HP:0001408)	2.43525448
22	Meckel diverticulum (HP:0002245)	2.40077143
23	Abnormality of the labia minora (HP:0012880)	2.39180494
24	Tubular atrophy (HP:0000092)	2.39063695
25	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.36938994
26	Abnormality of alanine metabolism (HP:0010916)	2.36938994
27	Hyperalaninemia (HP:0003348)	2.36938994
28	Patellar aplasia (HP:0006443)	2.35800437
29	Congenital primary aphakia (HP:0007707)	2.35165880
30	Chromsome breakage (HP:0040012)	2.34439772
31	Sclerocornea (HP:0000647)	2.33815756
32	Gait imbalance (HP:0002141)	2.32805922
33	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.30438594
34	Nephrogenic diabetes insipidus (HP:0009806)	2.25475739
35	Abnormality of the pons (HP:0007361)	2.24628108
36	Methylmalonic acidemia (HP:0002912)	2.22875819
37	Increased CSF lactate (HP:0002490)	2.22706742
38	Hypoplasia of the pons (HP:0012110)	2.21040126
39	Aplasia/Hypoplasia of the patella (HP:0006498)	2.19638864
40	Mitochondrial inheritance (HP:0001427)	2.18160089
41	Abnormal number of erythroid precursors (HP:0012131)	2.16598691
42	Hepatocellular necrosis (HP:0001404)	2.14852530
43	Acute necrotizing encephalopathy (HP:0006965)	2.14607694
44	Sloping forehead (HP:0000340)	2.14225615
45	Abnormality of chromosome stability (HP:0003220)	2.13818813
46	Absent thumb (HP:0009777)	2.12968278
47	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.12164697
48	Hyperventilation (HP:0002883)	2.11986439
49	Anencephaly (HP:0002323)	2.10491756
50	Rib fusion (HP:0000902)	2.06562466
51	Methylmalonic aciduria (HP:0012120)	2.03707852
52	Acute encephalopathy (HP:0006846)	2.03672973
53	Cerebellar dysplasia (HP:0007033)	2.03002909
54	Abnormality of the preputium (HP:0100587)	2.02273351
55	Lipid accumulation in hepatocytes (HP:0006561)	2.00555298
56	Volvulus (HP:0002580)	1.99440344
57	Congenital, generalized hypertrichosis (HP:0004540)	1.99092553
58	Hyperglycinemia (HP:0002154)	1.98401026
59	Genital tract atresia (HP:0001827)	1.96221151
60	Congenital hepatic fibrosis (HP:0002612)	1.93225386
61	Vaginal atresia (HP:0000148)	1.93202646
62	Increased serum lactate (HP:0002151)	1.93058235
63	Type I transferrin isoform profile (HP:0003642)	1.92895260
64	Protruding tongue (HP:0010808)	1.92750943
65	Abnormality of cells of the erythroid lineage (HP:0012130)	1.91551028
66	Hepatic necrosis (HP:0002605)	1.90653131
67	Abnormal mitochondria in muscle tissue (HP:0008316)	1.90535128
68	Ectopic kidney (HP:0000086)	1.89832371
69	Increased hepatocellular lipid droplets (HP:0006565)	1.89310865
70	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.89294427
71	Abnormal protein N-linked glycosylation (HP:0012347)	1.89294427
72	Abnormal protein glycosylation (HP:0012346)	1.89294427
73	Abnormal glycosylation (HP:0012345)	1.89294427
74	Poor coordination (HP:0002370)	1.88844078
75	Lissencephaly (HP:0001339)	1.87992216
76	Ependymoma (HP:0002888)	1.87819797
77	Dandy-Walker malformation (HP:0001305)	1.85104087
78	Postaxial foot polydactyly (HP:0001830)	1.85014983
79	Inability to walk (HP:0002540)	1.83731362
80	Preaxial hand polydactyly (HP:0001177)	1.83275549
81	Clubbing of toes (HP:0100760)	1.82780963
82	Gaze-evoked nystagmus (HP:0000640)	1.82741489
83	Hyperglycinuria (HP:0003108)	1.82667791
84	Progressive macrocephaly (HP:0004481)	1.82447671
85	Renal cortical cysts (HP:0000803)	1.81276728
86	Small hand (HP:0200055)	1.81024389
87	Polydipsia (HP:0001959)	1.78503861
88	Abnormal drinking behavior (HP:0030082)	1.78503861
89	Male pseudohermaphroditism (HP:0000037)	1.78313499
90	Concave nail (HP:0001598)	1.77313755
91	Abnormality of serine family amino acid metabolism (HP:0010894)	1.77215489
92	Abnormality of glycine metabolism (HP:0010895)	1.77215489
93	Abnormal rod and cone electroretinograms (HP:0008323)	1.77213816
94	Abnormality of the carotid arteries (HP:0005344)	1.76970369
95	Chorioretinal atrophy (HP:0000533)	1.75402511
96	Glioma (HP:0009733)	1.74206894
97	Progressive inability to walk (HP:0002505)	1.72824588
98	Abolished electroretinogram (ERG) (HP:0000550)	1.72138403
99	Large for gestational age (HP:0001520)	1.71662748
100	Intestinal atresia (HP:0011100)	1.69183807

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	4.24492693
2	ZAK	3.88639366
3	FRK	3.85193607
4	NUAK1	2.79523182
5	TLK1	2.49894729
6	MAP4K2	2.47360287
7	CDC7	2.17571617
8	GRK1	2.09501730
9	BUB1	2.06431588
10	MKNK2	1.98267120
11	WNK3	1.87553788
12	VRK2	1.83279994
13	TGFBR1	1.80399790
14	SRPK1	1.76210586
15	BRSK2	1.71468483
16	VRK1	1.67287340
17	ADRBK2	1.66871167
18	WNK4	1.63560547
19	INSRR	1.62430142
20	STK16	1.59864405
21	BCKDK	1.56233923
22	CDK8	1.51181014
23	TNIK	1.50612418
24	ACVR1B	1.47524023
25	MUSK	1.46440736
26	PINK1	1.44793833
27	MKNK1	1.43572833
28	WEE1	1.42910023
29	MAP3K4	1.42846458
30	PLK3	1.35473690
31	TRIM28	1.31954959
32	TAF1	1.31820838
33	TSSK6	1.27685324
34	TTK	1.25241897
35	EIF2AK3	1.24814655
36	NEK2	1.20781800
37	MAPK13	1.18448892
38	PLK4	1.18144232
39	NME1	1.17223797
40	PLK1	1.11335026
41	ATR	1.07616258
42	STK38L	1.04629572
43	CHEK2	0.99023088
44	DYRK2	0.98671168
45	OXSR1	0.95875729
46	CAMK1D	0.95400764
47	FLT3	0.94327895
48	CSNK1G1	0.92239650
49	RPS6KA5	0.87211785
50	BCR	0.86081464
51	NEK1	0.83715147
52	CCNB1	0.83128775
53	TIE1	0.83062925
54	STK39	0.80357904
55	MAP2K7	0.80093423
56	CASK	0.79437891
57	ERBB3	0.77885059
58	CSNK1G3	0.76891696
59	CAMK1G	0.74830721
60	CSNK1A1L	0.72392009
61	MST4	0.71745070
62	PLK2	0.71315109
63	AURKB	0.69931045
64	ATM	0.69327725
65	STK3	0.68354989
66	PRKCI	0.67913069
67	PBK	0.66254993
68	CSNK1G2	0.65957494
69	LATS1	0.63900688
70	EPHA4	0.63163302
71	PNCK	0.60746454
72	TXK	0.60565749
73	PRKCE	0.60407824
74	ADRBK1	0.59322343
75	MAPK15	0.58059474
76	MAPKAPK3	0.57866272
77	PIK3CA	0.57828447
78	TAOK3	0.57371739
79	PAK3	0.54350631
80	EIF2AK2	0.53932012
81	PRKCG	0.52977837
82	PASK	0.52665165
83	MAPKAPK5	0.46867364
84	CDK7	0.45914614
85	BRD4	0.45734683
86	CDK3	0.45079890
87	TEC	0.44293416
88	CHEK1	0.43720561
89	CSNK1A1	0.42706300
90	NLK	0.41154937
91	CSNK1D	0.40444329
92	DAPK2	0.39997183
93	BRSK1	0.39776551
94	RPS6KA4	0.38820494
95	CAMK1	0.37517986
96	FGFR2	0.36804860
97	KIT	0.35899532
98	MET	0.32390591
99	CDK1	0.31844369
100	AURKA	0.30616963

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Homologous recombination_Homo sapiens_hsa03440	2.96103054
2	RNA polymerase_Homo sapiens_hsa03020	2.87676264
3	Fanconi anemia pathway_Homo sapiens_hsa03460	2.70604615
4	Non-homologous end-joining_Homo sapiens_hsa03450	2.66003663
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.62460030
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.23536078
7	Selenocompound metabolism_Homo sapiens_hsa00450	2.18433510
8	Basal transcription factors_Homo sapiens_hsa03022	2.17577619
9	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.11151668
10	Mismatch repair_Homo sapiens_hsa03430	2.10588619
11	One carbon pool by folate_Homo sapiens_hsa00670	2.08604928
12	Oxidative phosphorylation_Homo sapiens_hsa00190	2.06207020
13	DNA replication_Homo sapiens_hsa03030	2.06135491
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.99160716
15	Phototransduction_Homo sapiens_hsa04744	1.94299932
16	Protein export_Homo sapiens_hsa03060	1.92171253
17	RNA degradation_Homo sapiens_hsa03018	1.91731863
18	Proteasome_Homo sapiens_hsa03050	1.89611196
19	Base excision repair_Homo sapiens_hsa03410	1.74902880
20	Parkinsons disease_Homo sapiens_hsa05012	1.74425648
21	Butanoate metabolism_Homo sapiens_hsa00650	1.72086342
22	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.70115272
23	RNA transport_Homo sapiens_hsa03013	1.63981139
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.61672989
25	Ribosome_Homo sapiens_hsa03010	1.61023635
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.58396997
27	Propanoate metabolism_Homo sapiens_hsa00640	1.55798617
28	Pyrimidine metabolism_Homo sapiens_hsa00240	1.52134307
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.49036623
30	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.45695896
31	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.45383527
32	Nucleotide excision repair_Homo sapiens_hsa03420	1.44633666
33	Huntingtons disease_Homo sapiens_hsa05016	1.44166399
34	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.39025309
35	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.37647688
36	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.33255366
37	Spliceosome_Homo sapiens_hsa03040	1.29825383
38	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.21740312
39	Purine metabolism_Homo sapiens_hsa00230	1.21117869
40	Ether lipid metabolism_Homo sapiens_hsa00565	1.19765444
41	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.17325611
42	Sulfur relay system_Homo sapiens_hsa04122	1.15577671
43	Tryptophan metabolism_Homo sapiens_hsa00380	1.11827721
44	Nicotine addiction_Homo sapiens_hsa05033	1.07904120
45	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.05205994
46	Taste transduction_Homo sapiens_hsa04742	1.04276492
47	Alzheimers disease_Homo sapiens_hsa05010	1.02970362
48	Lysine degradation_Homo sapiens_hsa00310	1.02795789
49	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.02031118
50	Caffeine metabolism_Homo sapiens_hsa00232	0.99247502
51	Peroxisome_Homo sapiens_hsa04146	0.95626448
52	Steroid biosynthesis_Homo sapiens_hsa00100	0.93763445
53	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.93651012
54	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.93052688
55	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.92550030
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.91415464
57	Cell cycle_Homo sapiens_hsa04110	0.89081832
58	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.79718815
59	p53 signaling pathway_Homo sapiens_hsa04115	0.78496809
60	Metabolic pathways_Homo sapiens_hsa01100	0.75920932
61	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.74115580
62	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.72251808
63	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.70719732
64	Olfactory transduction_Homo sapiens_hsa04740	0.70470662
65	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.70277654
66	mRNA surveillance pathway_Homo sapiens_hsa03015	0.69613607
67	Cardiac muscle contraction_Homo sapiens_hsa04260	0.69561591
68	beta-Alanine metabolism_Homo sapiens_hsa00410	0.69259092
69	Fatty acid elongation_Homo sapiens_hsa00062	0.68920613
70	Pyruvate metabolism_Homo sapiens_hsa00620	0.68755666
71	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66104500
72	Retinol metabolism_Homo sapiens_hsa00830	0.62054319
73	Basal cell carcinoma_Homo sapiens_hsa05217	0.61865393
74	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.61566117
75	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.61479491
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.59204709
77	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.57072368
78	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.56568946
79	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.55198959
80	Regulation of autophagy_Homo sapiens_hsa04140	0.53167397
81	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52640063
82	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.52483317
83	Alcoholism_Homo sapiens_hsa05034	0.47582900
84	Hippo signaling pathway_Homo sapiens_hsa04390	0.45921855
85	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.45487476
86	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.44892176
87	Sulfur metabolism_Homo sapiens_hsa00920	0.44540886
88	Serotonergic synapse_Homo sapiens_hsa04726	0.43711426
89	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.42074727
90	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.38101178
91	Primary immunodeficiency_Homo sapiens_hsa05340	0.37526651
92	Oocyte meiosis_Homo sapiens_hsa04114	0.36979337
93	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.36744713
94	Glutathione metabolism_Homo sapiens_hsa00480	0.35087344
95	Arginine and proline metabolism_Homo sapiens_hsa00330	0.34848131
96	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.33469985
97	ABC transporters_Homo sapiens_hsa02010	0.31860288
98	Fatty acid metabolism_Homo sapiens_hsa01212	0.31197383
99	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.30594182
100	Fatty acid degradation_Homo sapiens_hsa00071	0.25712190

ZNF544

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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