ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of DNA-dependent DNA replication (GO:2000104)	4.52961047
2	DNA double-strand break processing (GO:0000729)	4.16415222
3	chromatin remodeling at centromere (GO:0031055)	3.94946807
4	CENP-A containing nucleosome assembly (GO:0034080)	3.73987237
5	cullin deneddylation (GO:0010388)	3.70446494
6	pyrimidine nucleobase catabolic process (GO:0006208)	3.63303895
7	regulation of DNA endoreduplication (GO:0032875)	3.60124355
8	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.57376354
9	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.57376354
10	regulation of meiosis I (GO:0060631)	3.40645253
11	histone exchange (GO:0043486)	3.33399790
12	regulation of helicase activity (GO:0051095)	3.32542661
13	presynaptic membrane assembly (GO:0097105)	3.31021955
14	negative regulation of DNA recombination (GO:0045910)	3.22264488
15	centriole replication (GO:0007099)	3.21985676
16	resolution of meiotic recombination intermediates (GO:0000712)	3.20863336
17	protein-cofactor linkage (GO:0018065)	3.18700486
18	protein deneddylation (GO:0000338)	3.18651964
19	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.17398295
20	regulation of mitotic spindle checkpoint (GO:1903504)	3.17398295
21	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.16608339
22	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.07725077
23	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.02271307
24	mitochondrial respiratory chain complex assembly (GO:0033108)	3.01331670
25	DNA ligation (GO:0006266)	2.97763565
26	replication fork processing (GO:0031297)	2.95941227
27	histone H2A acetylation (GO:0043968)	2.93455013
28	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.92874986
29	NADH dehydrogenase complex assembly (GO:0010257)	2.92874986
30	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.92874986
31	DNA replication-independent nucleosome assembly (GO:0006336)	2.90969360
32	DNA replication-independent nucleosome organization (GO:0034724)	2.90969360
33	synapsis (GO:0007129)	2.90058737
34	protein complex biogenesis (GO:0070271)	2.89780312
35	postreplication repair (GO:0006301)	2.89712132
36	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.87006127
37	somite development (GO:0061053)	2.86291004
38	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.85390226
39	DNA damage response, detection of DNA damage (GO:0042769)	2.84649371
40	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.84442771
41	protein neddylation (GO:0045116)	2.82968141
42	DNA replication-dependent nucleosome organization (GO:0034723)	2.79781277
43	DNA replication-dependent nucleosome assembly (GO:0006335)	2.79781277
44	response to pheromone (GO:0019236)	2.79496288
45	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.77544147
46	nucleobase catabolic process (GO:0046113)	2.77283538
47	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.77120969
48	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.76550495
49	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.76550495
50	regulation of translation, ncRNA-mediated (GO:0045974)	2.76550495
51	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.75306185
52	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.75306185
53	presynaptic membrane organization (GO:0097090)	2.74682672
54	limb bud formation (GO:0060174)	2.74193204
55	recombinational repair (GO:0000725)	2.73034773
56	establishment of integrated proviral latency (GO:0075713)	2.71592138
57	water-soluble vitamin biosynthetic process (GO:0042364)	2.70826016
58	DNA catabolic process, exonucleolytic (GO:0000738)	2.68479830
59	platelet dense granule organization (GO:0060155)	2.68067533
60	double-strand break repair via homologous recombination (GO:0000724)	2.67393598
61	protein K6-linked ubiquitination (GO:0085020)	2.64024036
62	DNA integration (GO:0015074)	2.63681630
63	head development (GO:0060322)	2.63234195
64	DNA replication checkpoint (GO:0000076)	2.62647702
65	nonmotile primary cilium assembly (GO:0035058)	2.61692396
66	attachment of spindle microtubules to kinetochore (GO:0008608)	2.59932661
67	intracellular protein transmembrane import (GO:0044743)	2.59511392
68	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.58490549
69	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.58115822
70	isotype switching (GO:0045190)	2.58115822
71	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.58115822
72	histone mRNA metabolic process (GO:0008334)	2.56955521
73	kinetochore assembly (GO:0051382)	2.55193534
74	intra-S DNA damage checkpoint (GO:0031573)	2.54796717
75	intraciliary transport (GO:0042073)	2.54268030
76	protein prenylation (GO:0018342)	2.54177708
77	prenylation (GO:0097354)	2.54177708
78	proteasome assembly (GO:0043248)	2.51861644
79	photoreceptor cell maintenance (GO:0045494)	2.51402653
80	kinetochore organization (GO:0051383)	2.50390441
81	regulation of development, heterochronic (GO:0040034)	2.49084439
82	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	2.48986484
83	gamma-aminobutyric acid transport (GO:0015812)	2.48289434
84	regulation of telomere maintenance (GO:0032204)	2.47447605
85	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.45176044
86	cilium morphogenesis (GO:0060271)	2.45130375
87	regulation of centriole replication (GO:0046599)	2.44985612
88	DNA demethylation (GO:0080111)	2.44031967
89	protein polyglutamylation (GO:0018095)	2.43323889
90	neural tube formation (GO:0001841)	2.41789347
91	mismatch repair (GO:0006298)	2.41259360
92	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.40584868
93	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.39110917
94	behavioral response to nicotine (GO:0035095)	2.38966946
95	termination of RNA polymerase III transcription (GO:0006386)	2.38773821
96	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.38773821
97	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.38708839
98	regulation of cilium movement (GO:0003352)	2.36909676
99	respiratory chain complex IV assembly (GO:0008535)	2.36438448
100	microtubule anchoring (GO:0034453)	2.35368963

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	* ZNF274_21170338_ChIP-Seq_K562_Hela	3.73331290
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.09931008
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.07186531
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.83489433
5	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.80634610
6	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.73522225
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.70704274
8	VDR_22108803_ChIP-Seq_LS180_Human	2.60883667
9	EWS_26573619_Chip-Seq_HEK293_Human	2.56299361
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.53673833
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.50961939
12	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.45294061
13	FUS_26573619_Chip-Seq_HEK293_Human	2.39161839
14	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.33050233
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.31084508
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.29069616
17	GBX2_23144817_ChIP-Seq_PC3_Human	2.28991105
18	ELK1_19687146_ChIP-ChIP_HELA_Human	2.26116689
19	TAF15_26573619_Chip-Seq_HEK293_Human	2.23580912
20	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.20027373
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.16924964
22	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.12088025
23	P300_19829295_ChIP-Seq_ESCs_Human	2.06766488
24	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.98863631
25	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.90587189
26	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.84565098
27	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.72975563
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70005387
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.66923460
30	VDR_23849224_ChIP-Seq_CD4+_Human	1.66642865
31	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.62574499
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.60390968
33	IRF1_19129219_ChIP-ChIP_H3396_Human	1.60315366
34	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.54793710
35	EZH2_22144423_ChIP-Seq_EOC_Human	1.50575084
36	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.48213609
37	* ETS1_20019798_ChIP-Seq_JURKAT_Human	1.47133394
38	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.46131678
39	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.45705611
40	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.45339269
41	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.45071344
42	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.44851451
43	ER_23166858_ChIP-Seq_MCF-7_Human	1.43524208
44	CBP_20019798_ChIP-Seq_JUKART_Human	1.39830576
45	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.39830576
46	FOXP3_21729870_ChIP-Seq_TREG_Human	1.39599535
47	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.38264504
48	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37604129
49	BCAT_22108803_ChIP-Seq_LS180_Human	1.37514411
50	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35106254
51	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.34910504
52	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33080145
53	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.27508007
54	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.26232320
55	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25779369
56	E2F7_22180533_ChIP-Seq_HELA_Human	1.23180908
57	* TP63_19390658_ChIP-ChIP_HaCaT_Human	1.23154254
58	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.23113587
59	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.21842368
60	SMAD4_21799915_ChIP-Seq_A2780_Human	1.21292198
61	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.20218780
62	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.19882373
63	NANOG_19829295_ChIP-Seq_ESCs_Human	1.18717210
64	SOX2_19829295_ChIP-Seq_ESCs_Human	1.18717210
65	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.18586245
66	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.18545137
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.17958807
68	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17551533
69	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.17452372
70	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.16908813
71	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.15957375
72	TP53_22573176_ChIP-Seq_HFKS_Human	1.13601419
73	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.13432866
74	AR_25329375_ChIP-Seq_VCAP_Human	1.12924274
75	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.12594702
76	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.12095801
77	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.12095801
78	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.11995514
79	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.11945467
80	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.10415872
81	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.09984018
82	TCF4_22108803_ChIP-Seq_LS180_Human	1.09238232
83	RNF2_27304074_Chip-Seq_NSC_Mouse	1.07667685
84	* NOTCH1_21737748_ChIP-Seq_TLL_Human	1.07194706
85	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.06889126
86	STAT3_23295773_ChIP-Seq_U87_Human	1.06304199
87	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.05514174
88	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04625963
89	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.04403741
90	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.03065055
91	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02775906
92	TCF4_23295773_ChIP-Seq_U87_Human	1.01764208
93	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.99973476
94	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.98901779
95	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98215172
96	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.97326963
97	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.96290805
98	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.95132118
99	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95023199
100	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.92154714

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.24943747
2	MP0008877_abnormal_DNA_methylation	2.97889353
3	MP0008058_abnormal_DNA_repair	2.87849318
4	MP0006292_abnormal_olfactory_placode	2.85613547
5	MP0003880_abnormal_central_pattern	2.49809039
6	MP0000516_abnormal_urinary_system	2.34844485
7	MP0005367_renal/urinary_system_phenotyp	2.34844485
8	MP0008007_abnormal_cellular_replicative	2.32740580
9	MP0010094_abnormal_chromosome_stability	2.29272514
10	MP0001188_hyperpigmentation	2.26294557
11	MP0006072_abnormal_retinal_apoptosis	2.24537931
12	MP0003718_maternal_effect	2.17182321
13	MP0002736_abnormal_nociception_after	2.10186587
14	MP0001529_abnormal_vocalization	2.08797229
15	MP0003315_abnormal_perineum_morphology	1.95333308
16	MP0008789_abnormal_olfactory_epithelium	1.90687496
17	MP0008057_abnormal_DNA_replication	1.79596279
18	MP0005551_abnormal_eye_electrophysiolog	1.70566510
19	MP0001968_abnormal_touch/_nociception	1.69066763
20	MP0002822_catalepsy	1.68045313
21	MP0003121_genomic_imprinting	1.66001160
22	MP0001984_abnormal_olfaction	1.61745844
23	MP0003136_yellow_coat_color	1.61660673
24	MP0003937_abnormal_limbs/digits/tail_de	1.60775620
25	MP0001986_abnormal_taste_sensitivity	1.60027696
26	MP0001293_anophthalmia	1.56914695
27	MP0005253_abnormal_eye_physiology	1.53358293
28	MP0000631_abnormal_neuroendocrine_gland	1.53194716
29	MP0002751_abnormal_autonomic_nervous	1.51321555
30	MP0003693_abnormal_embryo_hatching	1.48012377
31	MP0003890_abnormal_embryonic-extraembry	1.47981802
32	MP0005499_abnormal_olfactory_system	1.44867985
33	MP0005394_taste/olfaction_phenotype	1.44867985
34	MP0001485_abnormal_pinna_reflex	1.44410639
35	MP0004133_heterotaxia	1.43419083
36	MP0003567_abnormal_fetal_cardiomyocyte	1.42882374
37	MP0002938_white_spotting	1.42261814
38	MP0005084_abnormal_gallbladder_morpholo	1.41605934
39	MP0000049_abnormal_middle_ear	1.39047930
40	MP0004885_abnormal_endolymph	1.38529003
41	MP0004142_abnormal_muscle_tone	1.36931675
42	MP0003122_maternal_imprinting	1.33217756
43	MP0002233_abnormal_nose_morphology	1.31206091
44	MP0000778_abnormal_nervous_system	1.30060154
45	MP0003787_abnormal_imprinting	1.29194193
46	MP0003195_calcinosis	1.28735259
47	MP0009697_abnormal_copulation	1.28543491
48	MP0008995_early_reproductive_senescence	1.27305209
49	MP0000647_abnormal_sebaceous_gland	1.27297250
50	MP0003941_abnormal_skin_development	1.26916237
51	MP0003119_abnormal_digestive_system	1.25462683
52	MP0001486_abnormal_startle_reflex	1.25033106
53	MP0005645_abnormal_hypothalamus_physiol	1.24863991
54	MP0002837_dystrophic_cardiac_calcinosis	1.23418875
55	MP0002254_reproductive_system_inflammat	1.22016667
56	MP0005187_abnormal_penis_morphology	1.21562813
57	MP0002234_abnormal_pharynx_morphology	1.20445267
58	MP0001286_abnormal_eye_development	1.19917669
59	MP0001177_atelectasis	1.16280933
60	MP0003111_abnormal_nucleus_morphology	1.12661264
61	MP0002282_abnormal_trachea_morphology	1.12518107
62	MP0009745_abnormal_behavioral_response	1.10639238
63	MP0002638_abnormal_pupillary_reflex	1.08511341
64	MP0006276_abnormal_autonomic_nervous	1.06780544
65	MP0004215_abnormal_myocardial_fiber	1.05699946
66	MP0004147_increased_porphyrin_level	1.05564700
67	MP0003786_premature_aging	1.04328889
68	MP0000427_abnormal_hair_cycle	1.03777852
69	MP0002653_abnormal_ependyma_morphology	1.03344227
70	MP0001929_abnormal_gametogenesis	1.02742666
71	MP0010030_abnormal_orbit_morphology	1.01911526
72	MP0009046_muscle_twitch	1.01796914
73	MP0002735_abnormal_chemical_nociception	1.01105150
74	MP0002272_abnormal_nervous_system	1.00559146
75	MP0002210_abnormal_sex_determination	0.98490977
76	MP0005248_abnormal_Harderian_gland	0.97314452
77	MP0000653_abnormal_sex_gland	0.97257617
78	MP0003077_abnormal_cell_cycle	0.96869658
79	MP0006035_abnormal_mitochondrial_morpho	0.95785812
80	MP0003011_delayed_dark_adaptation	0.95189243
81	MP0003938_abnormal_ear_development	0.94875898
82	MP0008872_abnormal_physiological_respon	0.94542171
83	MP0008932_abnormal_embryonic_tissue	0.91962846
84	MP0005391_vision/eye_phenotype	0.91802476
85	MP0001145_abnormal_male_reproductive	0.90509995
86	MP0005195_abnormal_posterior_eye	0.88567275
87	MP0002697_abnormal_eye_size	0.88355157
88	MP0001119_abnormal_female_reproductive	0.88054796
89	MP0000372_irregular_coat_pigmentation	0.87443292
90	MP0004957_abnormal_blastocyst_morpholog	0.86982210
91	MP0003698_abnormal_male_reproductive	0.85196037
92	MP0003861_abnormal_nervous_system	0.84766080
93	MP0002090_abnormal_vision	0.83476400
94	MP0005646_abnormal_pituitary_gland	0.83063273
95	MP0003755_abnormal_palate_morphology	0.82658638
96	MP0001919_abnormal_reproductive_system	0.81438915
97	MP0002752_abnormal_somatic_nervous	0.81176634
98	MP0000026_abnormal_inner_ear	0.79347291
99	MP0002572_abnormal_emotion/affect_behav	0.79051479
100	MP0002876_abnormal_thyroid_physiology	0.77898176

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the labia minora (HP:0012880)	3.76043399
2	Colon cancer (HP:0003003)	3.34489579
3	Pancreatic cysts (HP:0001737)	3.28592391
4	True hermaphroditism (HP:0010459)	3.08895074
5	Pancreatic fibrosis (HP:0100732)	3.03049947
6	Progressive inability to walk (HP:0002505)	2.84904824
7	Septo-optic dysplasia (HP:0100842)	2.83585523
8	Chronic hepatic failure (HP:0100626)	2.77406376
9	Supernumerary spleens (HP:0009799)	2.75068443
10	Molar tooth sign on MRI (HP:0002419)	2.73137237
11	Abnormality of midbrain morphology (HP:0002418)	2.73137237
12	Intestinal atresia (HP:0011100)	2.66887360
13	Nephronophthisis (HP:0000090)	2.62038791
14	Medial flaring of the eyebrow (HP:0010747)	2.60838899
15	Meckel diverticulum (HP:0002245)	2.54725772
16	Delayed CNS myelination (HP:0002188)	2.51625261
17	Abnormal lung lobation (HP:0002101)	2.49010926
18	Congenital, generalized hypertrichosis (HP:0004540)	2.47688005
19	Abnormality of the ileum (HP:0001549)	2.42097941
20	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.41875498
21	Acute necrotizing encephalopathy (HP:0006965)	2.36432264
22	Hyperglycinemia (HP:0002154)	2.35324068
23	Lipid accumulation in hepatocytes (HP:0006561)	2.31176818
24	Increased hepatocellular lipid droplets (HP:0006565)	2.29930690
25	Hyperventilation (HP:0002883)	2.26760739
26	Gait imbalance (HP:0002141)	2.25424972
27	Congenital primary aphakia (HP:0007707)	2.25292632
28	Acute encephalopathy (HP:0006846)	2.23552208
29	Inability to walk (HP:0002540)	2.21002688
30	Abolished electroretinogram (ERG) (HP:0000550)	2.19915194
31	Increased CSF lactate (HP:0002490)	2.18389668
32	Mitochondrial inheritance (HP:0001427)	2.18054782
33	Abnormality of chromosome stability (HP:0003220)	2.17962534
34	Abnormality of the renal medulla (HP:0100957)	2.17047716
35	Methylmalonic acidemia (HP:0002912)	2.15978702
36	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.15803283
37	3-Methylglutaconic aciduria (HP:0003535)	2.15489437
38	Neoplasm of the adrenal cortex (HP:0100641)	2.13786100
39	Nephrogenic diabetes insipidus (HP:0009806)	2.13142617
40	Duodenal stenosis (HP:0100867)	2.11971908
41	Small intestinal stenosis (HP:0012848)	2.11971908
42	Genital tract atresia (HP:0001827)	2.11886574
43	Progressive macrocephaly (HP:0004481)	2.11545421
44	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.11448600
45	Abnormality of alanine metabolism (HP:0010916)	2.10725108
46	Hyperalaninemia (HP:0003348)	2.10725108
47	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.10725108
48	Short tibia (HP:0005736)	2.10701170
49	Glioma (HP:0009733)	2.09276679
50	Vaginal atresia (HP:0000148)	2.07295778
51	Sloping forehead (HP:0000340)	2.06246517
52	Abnormal biliary tract physiology (HP:0012439)	2.04991556
53	Bile duct proliferation (HP:0001408)	2.04991556
54	Abnormality of the duodenum (HP:0002246)	2.04526037
55	Optic nerve hypoplasia (HP:0000609)	2.02798478
56	Hepatoblastoma (HP:0002884)	2.00623276
57	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.99660262
58	Ependymoma (HP:0002888)	1.99648018
59	Abnormal mitochondria in muscle tissue (HP:0008316)	1.98848499
60	Hyperglycinuria (HP:0003108)	1.97524857
61	Anencephaly (HP:0002323)	1.94599730
62	Postaxial hand polydactyly (HP:0001162)	1.91043026
63	Absent septum pellucidum (HP:0001331)	1.89738125
64	Drooling (HP:0002307)	1.89456187
65	Anophthalmia (HP:0000528)	1.88334137
66	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.88197463
67	Dandy-Walker malformation (HP:0001305)	1.87859628
68	Hypothermia (HP:0002045)	1.86822937
69	Neoplasm of the adrenal gland (HP:0100631)	1.85561806
70	Pendular nystagmus (HP:0012043)	1.84581646
71	Abnormality of the renal cortex (HP:0011035)	1.81987598
72	Hepatocellular necrosis (HP:0001404)	1.81604625
73	Aplasia/hypoplasia of the uterus (HP:0008684)	1.81441021
74	Abnormality of serine family amino acid metabolism (HP:0010894)	1.81342800
75	Abnormality of glycine metabolism (HP:0010895)	1.81342800
76	Sclerocornea (HP:0000647)	1.81214499
77	Bilateral microphthalmos (HP:0007633)	1.80771498
78	Cystic liver disease (HP:0006706)	1.80342611
79	Broad-based gait (HP:0002136)	1.76180257
80	Abnormality of the preputium (HP:0100587)	1.76140674
81	Abnormality of serum amino acid levels (HP:0003112)	1.75602922
82	Patellar aplasia (HP:0006443)	1.75567794
83	Gastrointestinal atresia (HP:0002589)	1.73291649
84	Renal Fanconi syndrome (HP:0001994)	1.72966950
85	Astrocytoma (HP:0009592)	1.72964661
86	Abnormality of the astrocytes (HP:0100707)	1.72964661
87	Hypoplasia of the uterus (HP:0000013)	1.71839317
88	Triphalangeal thumb (HP:0001199)	1.71263680
89	Type II lissencephaly (HP:0007260)	1.70593238
90	Medulloblastoma (HP:0002885)	1.70588213
91	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.70486445
92	Optic disc pallor (HP:0000543)	1.69770416
93	Aqueductal stenosis (HP:0002410)	1.69676629
94	Methylmalonic aciduria (HP:0012120)	1.68869286
95	Postaxial foot polydactyly (HP:0001830)	1.68763914
96	Agnosia (HP:0010524)	1.67027453
97	Increased serum lactate (HP:0002151)	1.66541555
98	Abnormality of the septum pellucidum (HP:0007375)	1.66439410
99	Broad foot (HP:0001769)	1.66233584
100	Excessive salivation (HP:0003781)	1.65194502

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TRIM28	3.02245974
2	ZAK	3.01613291
3	WNK3	2.85428737
4	FRK	2.75426510
5	BMPR1B	2.44937743
6	BCR	2.44181929
7	SRPK1	2.35964417
8	CASK	2.22044352
9	MKNK2	2.12307369
10	ACVR1B	2.07790499
11	NUAK1	2.05080830
12	WEE1	2.03265961
13	PLK2	1.96818400
14	MAP3K4	1.95649464
15	BRSK2	1.92792194
16	TNIK	1.92747409
17	PLK3	1.89051203
18	MAPK13	1.88878230
19	PBK	1.85875280
20	PLK4	1.85338157
21	CDC7	1.84668192
22	VRK1	1.84605760
23	VRK2	1.84008817
24	MKNK1	1.71566983
25	PNCK	1.67402514
26	MAP4K2	1.62720412
27	DYRK2	1.49279701
28	BUB1	1.41508614
29	MARK1	1.38102016
30	TAF1	1.37897783
31	TTK	1.35653958
32	INSRR	1.28164993
33	MAP2K7	1.26336206
34	CSNK1G1	1.23717573
35	GRK1	1.23706005
36	TSSK6	1.23201901
37	ERBB3	1.21472597
38	PINK1	1.18752367
39	CSNK1G2	1.15030277
40	FGFR2	1.12899846
41	CSNK1G3	1.09910053
42	WNK4	1.05605383
43	PLK1	1.04475916
44	PRKCE	1.02212968
45	TGFBR1	1.00970688
46	CCNB1	0.98885259
47	CSNK1A1L	0.97331726
48	ADRBK2	0.94340932
49	STK38L	0.94328153
50	DYRK3	0.94011083
51	NEK1	0.93524386
52	EPHA4	0.92186547
53	FLT3	0.89890581
54	EIF2AK3	0.89438720
55	OXSR1	0.83625017
56	CDK3	0.82525823
57	PRKCG	0.81685942
58	NME1	0.81375739
59	ATR	0.80116274
60	CDK19	0.79459023
61	BRD4	0.78076172
62	MINK1	0.74584745
63	STK39	0.73920259
64	PRKCI	0.71434738
65	CHEK2	0.67626673
66	PKN1	0.66010820
67	TIE1	0.65749092
68	TLK1	0.61230547
69	PAK3	0.61178763
70	PASK	0.60057746
71	ATM	0.59362379
72	BRSK1	0.59315754
73	NTRK2	0.58959269
74	RPS6KA4	0.56507685
75	SIK3	0.51615995
76	AURKB	0.51421056
77	BCKDK	0.50712739
78	AKT3	0.49903968
79	CSNK1A1	0.47654401
80	MAPK15	0.47634753
81	MST4	0.47390238
82	ERBB4	0.46781804
83	GRK7	0.45032939
84	EPHB2	0.43589521
85	CSNK1E	0.42499321
86	DAPK2	0.41893158
87	DYRK1A	0.40683079
88	UHMK1	0.40145560
89	PDK2	0.38424480
90	DYRK1B	0.37397574
91	FGFR1	0.36590788
92	PRKG1	0.36279093
93	MAP2K4	0.35446135
94	CSNK2A1	0.35400169
95	NLK	0.35016151
96	PRKACB	0.34506698
97	CSNK1D	0.33460984
98	EPHA3	0.31723022
99	YES1	0.29217218
100	OBSCN	0.29146003

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Non-homologous end-joining_Homo sapiens_hsa03450	3.14923404
2	Protein export_Homo sapiens_hsa03060	3.00670744
3	RNA polymerase_Homo sapiens_hsa03020	2.66498840
4	Mismatch repair_Homo sapiens_hsa03430	2.64562917
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.53275064
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.52948533
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.51051690
8	Homologous recombination_Homo sapiens_hsa03440	2.42856076
9	Proteasome_Homo sapiens_hsa03050	2.37681988
10	Basal transcription factors_Homo sapiens_hsa03022	2.33653865
11	Propanoate metabolism_Homo sapiens_hsa00640	2.27308450
12	Parkinsons disease_Homo sapiens_hsa05012	2.09724961
13	RNA degradation_Homo sapiens_hsa03018	2.02909973
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.89170894
15	Phototransduction_Homo sapiens_hsa04744	1.87782056
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.82319969
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.82015669
18	DNA replication_Homo sapiens_hsa03030	1.80842509
19	Nicotine addiction_Homo sapiens_hsa05033	1.78544889
20	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.72669412
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.67575188
22	Base excision repair_Homo sapiens_hsa03410	1.63871951
23	Butanoate metabolism_Homo sapiens_hsa00650	1.63441704
24	Spliceosome_Homo sapiens_hsa03040	1.63237692
25	Nucleotide excision repair_Homo sapiens_hsa03420	1.59187083
26	RNA transport_Homo sapiens_hsa03013	1.56132551
27	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.54286395
28	Huntingtons disease_Homo sapiens_hsa05016	1.54151142
29	Steroid biosynthesis_Homo sapiens_hsa00100	1.53209190
30	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.50356992
31	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.35681157
32	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.31978345
33	Ribosome_Homo sapiens_hsa03010	1.25550930
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.24071139
35	Alzheimers disease_Homo sapiens_hsa05010	1.19835940
36	Cell cycle_Homo sapiens_hsa04110	1.19827038
37	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.18029512
38	Peroxisome_Homo sapiens_hsa04146	1.15328570
39	Caffeine metabolism_Homo sapiens_hsa00232	1.14586662
40	Pyrimidine metabolism_Homo sapiens_hsa00240	1.14472769
41	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.06545554
42	beta-Alanine metabolism_Homo sapiens_hsa00410	1.06219060
43	Linoleic acid metabolism_Homo sapiens_hsa00591	1.05861167
44	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.05306775
45	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.04002365
46	Purine metabolism_Homo sapiens_hsa00230	1.01256279
47	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.97894302
48	Ether lipid metabolism_Homo sapiens_hsa00565	0.97337638
49	Nitrogen metabolism_Homo sapiens_hsa00910	0.97195117
50	Fatty acid elongation_Homo sapiens_hsa00062	0.96924615
51	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.96748391
52	Cardiac muscle contraction_Homo sapiens_hsa04260	0.96222289
53	mRNA surveillance pathway_Homo sapiens_hsa03015	0.94953348
54	Taste transduction_Homo sapiens_hsa04742	0.94866423
55	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.91750929
56	One carbon pool by folate_Homo sapiens_hsa00670	0.89880034
57	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.89830471
58	Oocyte meiosis_Homo sapiens_hsa04114	0.80504730
59	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.80227285
60	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.76314054
61	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.75672663
62	Tryptophan metabolism_Homo sapiens_hsa00380	0.74288787
63	Chemical carcinogenesis_Homo sapiens_hsa05204	0.74256844
64	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.72078933
65	Fatty acid degradation_Homo sapiens_hsa00071	0.71579662
66	GABAergic synapse_Homo sapiens_hsa04727	0.70523631
67	Regulation of autophagy_Homo sapiens_hsa04140	0.69251448
68	Olfactory transduction_Homo sapiens_hsa04740	0.69189946
69	Retinol metabolism_Homo sapiens_hsa00830	0.67409031
70	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.64682871
71	Metabolic pathways_Homo sapiens_hsa01100	0.64368290
72	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.63478138
73	Pyruvate metabolism_Homo sapiens_hsa00620	0.62767793
74	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61061838
75	p53 signaling pathway_Homo sapiens_hsa04115	0.60546950
76	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.60123261
77	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.59482156
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.59268633
79	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.59004764
80	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.57394323
81	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.56569262
82	Fatty acid metabolism_Homo sapiens_hsa01212	0.55432645
83	Glutathione metabolism_Homo sapiens_hsa00480	0.54871597
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.54652348
85	Collecting duct acid secretion_Homo sapiens_hsa04966	0.54070502
86	Basal cell carcinoma_Homo sapiens_hsa05217	0.53079426
87	Morphine addiction_Homo sapiens_hsa05032	0.52165002
88	Glutamatergic synapse_Homo sapiens_hsa04724	0.50752052
89	Asthma_Homo sapiens_hsa05310	0.44626013
90	Circadian entrainment_Homo sapiens_hsa04713	0.43610485
91	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.43289689
92	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.39930402
93	Hippo signaling pathway_Homo sapiens_hsa04390	0.39901927
94	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.37773523
95	Serotonergic synapse_Homo sapiens_hsa04726	0.37624829
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.36067975
97	Dopaminergic synapse_Homo sapiens_hsa04728	0.34001210
98	Wnt signaling pathway_Homo sapiens_hsa04310	0.32323006
99	Amphetamine addiction_Homo sapiens_hsa05031	0.31902953
100	Circadian rhythm_Homo sapiens_hsa04710	0.30373412

ZNF682

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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