ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	pyrimidine nucleobase catabolic process (GO:0006208)	5.00013791
2	negative regulation of synaptic transmission, GABAergic (GO:0032229)	4.45373985
3	response to pheromone (GO:0019236)	4.30084346
4	nonmotile primary cilium assembly (GO:0035058)	4.20075694
5	regulation of cilium movement (GO:0003352)	3.92288206
6	nucleobase catabolic process (GO:0046113)	3.76536329
7	positive regulation of mitochondrial fission (GO:0090141)	3.71728595
8	DNA double-strand break processing (GO:0000729)	3.38924296
9	synapsis (GO:0007129)	3.32481685
10	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.21644980
11	neural tube formation (GO:0001841)	3.21119798
12	behavioral response to ethanol (GO:0048149)	3.17411237
13	intraciliary transport (GO:0042073)	3.17286007
14	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.16636897
15	regulation of DNA methylation (GO:0044030)	3.15148811
16	negative regulation of amino acid transport (GO:0051956)	3.10930030
17	regulation of helicase activity (GO:0051095)	3.08391781
18	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.07802652
19	presynaptic membrane organization (GO:0097090)	3.06576432
20	cilium morphogenesis (GO:0060271)	3.04016316
21	pyrimidine dimer repair (GO:0006290)	3.03502777
22	nucleotide transmembrane transport (GO:1901679)	2.97650126
23	limb bud formation (GO:0060174)	2.97371628
24	regulation of mitotic spindle checkpoint (GO:1903504)	2.91966082
25	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.91966082
26	piRNA metabolic process (GO:0034587)	2.91958225
27	presynaptic membrane assembly (GO:0097105)	2.83385684
28	centriole replication (GO:0007099)	2.81236782
29	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.81073884
30	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.80985942
31	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.80985942
32	photoreceptor cell maintenance (GO:0045494)	2.79131682
33	mitotic spindle checkpoint (GO:0071174)	2.79065012
34	negative regulation of sister chromatid segregation (GO:0033046)	2.77855444
35	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.77855444
36	negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)	2.77855444
37	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.77855444
38	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.77855444
39	regulation of meiosis I (GO:0060631)	2.76364394
40	cullin deneddylation (GO:0010388)	2.76354936
41	cellular response to leptin stimulus (GO:0044320)	2.76091768
42	cardiac left ventricle morphogenesis (GO:0003214)	2.75873632
43	cholesterol biosynthetic process (GO:0006695)	2.71337593
44	spindle checkpoint (GO:0031577)	2.71246919
45	establishment of melanosome localization (GO:0032401)	2.70180555
46	protein K48-linked ubiquitination (GO:0070936)	2.69024344
47	regulation of glutamate secretion (GO:0014048)	2.66624686
48	transcription from RNA polymerase III promoter (GO:0006383)	2.66135805
49	amino acid salvage (GO:0043102)	2.66096550
50	L-methionine salvage (GO:0071267)	2.66096550
51	L-methionine biosynthetic process (GO:0071265)	2.66096550
52	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.66042493
53	sensory perception of smell (GO:0007608)	2.65848881
54	DNA damage response, detection of DNA damage (GO:0042769)	2.65744446
55	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.65197005
56	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.65197005
57	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.64185886
58	negative regulation of chromosome segregation (GO:0051985)	2.64014656
59	melanosome transport (GO:0032402)	2.63905098
60	attachment of spindle microtubules to kinetochore (GO:0008608)	2.63108541
61	mitotic spindle assembly checkpoint (GO:0007094)	2.62796908
62	histone H2A acetylation (GO:0043968)	2.62777045
63	retinal cone cell development (GO:0046549)	2.62724932
64	protein localization to cilium (GO:0061512)	2.62108285
65	regulation of mitotic sister chromatid separation (GO:0010965)	2.61104523
66	regulation of mitotic sister chromatid segregation (GO:0033047)	2.61104523
67	regulation of sister chromatid segregation (GO:0033045)	2.61104523
68	negative regulation of appetite (GO:0032099)	2.58901553
69	negative regulation of response to food (GO:0032096)	2.58901553
70	spindle assembly checkpoint (GO:0071173)	2.57974448
71	retinal ganglion cell axon guidance (GO:0031290)	2.57761641
72	photoreceptor cell development (GO:0042461)	2.56997060
73	regulation of mitotic metaphase/anaphase transition (GO:0030071)	2.56480797
74	regulation of metaphase/anaphase transition of cell cycle (GO:1902099)	2.56480797
75	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.54965143
76	establishment of pigment granule localization (GO:0051905)	2.54918692
77	peptidyl-histidine modification (GO:0018202)	2.53308464
78	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	2.52833679
79	epithelial cilium movement (GO:0003351)	2.52149214
80	somite development (GO:0061053)	2.51443950
81	artery smooth muscle contraction (GO:0014824)	2.49760280
82	pigment granule transport (GO:0051904)	2.48234761
83	sterol biosynthetic process (GO:0016126)	2.44348315
84	striatum development (GO:0021756)	2.43443291
85	regulation of DNA endoreduplication (GO:0032875)	2.41808308
86	protein deneddylation (GO:0000338)	2.40215165
87	left/right axis specification (GO:0070986)	2.39665348
88	DNA replication-dependent nucleosome organization (GO:0034723)	2.39357869
89	DNA replication-dependent nucleosome assembly (GO:0006335)	2.39357869
90	chromatin remodeling at centromere (GO:0031055)	2.37806557
91	meiotic cell cycle (GO:0051321)	2.37474298
92	chromosome organization involved in meiosis (GO:0070192)	2.37370721
93	CENP-A containing nucleosome assembly (GO:0034080)	2.36740670
94	termination of RNA polymerase III transcription (GO:0006386)	2.36242265
95	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.36242265
96	cilium organization (GO:0044782)	2.35983231
97	regulation of chromatin binding (GO:0035561)	2.35570000
98	replication fork processing (GO:0031297)	2.34586526
99	DNA integration (GO:0015074)	2.34357850
100	eye photoreceptor cell development (GO:0042462)	2.34096879

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.89169911
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.84578161
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.15069434
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.91706201
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.86457027
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.66771965
7	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.41060669
8	TAF15_26573619_Chip-Seq_HEK293_Human	2.39173985
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.38190631
10	EWS_26573619_Chip-Seq_HEK293_Human	2.33938057
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.33320306
12	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.32826548
13	P300_19829295_ChIP-Seq_ESCs_Human	2.25372467
14	FUS_26573619_Chip-Seq_HEK293_Human	2.22619196
15	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.22446628
16	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.19088774
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.17490047
18	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.07587162
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.00981258
20	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.99587304
21	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.89643455
22	VDR_22108803_ChIP-Seq_LS180_Human	1.85877983
23	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.82339527
24	ELK1_19687146_ChIP-ChIP_HELA_Human	1.80615801
25	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.78880958
26	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.78787544
27	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.72128327
28	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.67245679
29	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.65022683
30	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.61379812
31	RNF2_27304074_Chip-Seq_NSC_Mouse	1.60707869
32	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.59794311
33	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.57720137
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.53280324
35	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.49862393
36	SMAD4_21799915_ChIP-Seq_A2780_Human	1.47226869
37	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.47179121
38	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.43968441
39	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.43800100
40	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.43600495
41	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.43030144
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41957162
43	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41423331
44	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.38700591
45	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37805984
46	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.35190304
47	VDR_23849224_ChIP-Seq_CD4+_Human	1.35157641
48	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.31252207
49	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.30618047
50	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.30584925
51	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.29698130
52	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.29395409
53	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.29189538
54	CBP_20019798_ChIP-Seq_JUKART_Human	1.29189538
55	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.24780934
56	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.24336169
57	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.24336169
58	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23876908
59	ER_23166858_ChIP-Seq_MCF-7_Human	1.23854898
60	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.23119566
61	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.21950205
62	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.21583203
63	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.20940368
64	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.18412712
65	MYC_18940864_ChIP-ChIP_HL60_Human	1.18098491
66	AR_25329375_ChIP-Seq_VCAP_Human	1.17092666
67	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.15864558
68	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.15820843
69	IRF1_19129219_ChIP-ChIP_H3396_Human	1.15811702
70	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.14366866
71	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.14078325
72	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.13420008
73	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.12647847
74	SOX2_19829295_ChIP-Seq_ESCs_Human	1.12468113
75	NANOG_19829295_ChIP-Seq_ESCs_Human	1.12468113
76	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.12158881
77	STAT3_23295773_ChIP-Seq_U87_Human	1.11972976
78	TCF4_23295773_ChIP-Seq_U87_Human	1.11251664
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.11215819
80	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.10219253
81	BCAT_22108803_ChIP-Seq_LS180_Human	1.09447638
82	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.08841615
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08044593
84	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.06756258
85	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.06331609
86	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.06031012
87	RUNX2_22187159_ChIP-Seq_PCA_Human	1.03576340
88	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.03304533
89	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.00887590
90	SOX9_26525672_Chip-Seq_HEART_Mouse	1.00657948
91	TCF4_22108803_ChIP-Seq_LS180_Human	0.99159009
92	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97851261
93	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.97709315
94	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97049655
95	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.96250979
96	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.95739364
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.95111059
98	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	0.94171051
99	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.94143919
100	TP53_22573176_ChIP-Seq_HFKS_Human	0.92742973

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008789_abnormal_olfactory_epithelium	4.54704795
2	MP0005394_taste/olfaction_phenotype	4.08137331
3	MP0005499_abnormal_olfactory_system	4.08137331
4	MP0001529_abnormal_vocalization	3.96371806
5	MP0001984_abnormal_olfaction	3.23666264
6	MP0008877_abnormal_DNA_methylation	2.76886985
7	MP0003718_maternal_effect	2.62909488
8	MP0005645_abnormal_hypothalamus_physiol	2.59986283
9	MP0003890_abnormal_embryonic-extraembry	2.44476113
10	MP0006292_abnormal_olfactory_placode	2.18754615
11	MP0006276_abnormal_autonomic_nervous	2.15265770
12	MP0008058_abnormal_DNA_repair	2.06424267
13	MP0001968_abnormal_touch/_nociception	1.99905625
14	MP0002102_abnormal_ear_morphology	1.91959553
15	MP0008995_early_reproductive_senescence	1.91105366
16	MP0006072_abnormal_retinal_apoptosis	1.73484192
17	MP0002822_catalepsy	1.70214363
18	MP0003787_abnormal_imprinting	1.69162594
19	MP0000778_abnormal_nervous_system	1.68757171
20	MP0005253_abnormal_eye_physiology	1.63245853
21	MP0002638_abnormal_pupillary_reflex	1.62313637
22	MP0003121_genomic_imprinting	1.61350754
23	MP0002233_abnormal_nose_morphology	1.57498603
24	MP0005187_abnormal_penis_morphology	1.56701214
25	MP0002751_abnormal_autonomic_nervous	1.48230157
26	MP0002234_abnormal_pharynx_morphology	1.47587875
27	MP0002735_abnormal_chemical_nociception	1.47448305
28	MP0003136_yellow_coat_color	1.45195167
29	MP0003122_maternal_imprinting	1.42773842
30	MP0002160_abnormal_reproductive_system	1.39787923
31	MP0003119_abnormal_digestive_system	1.38666607
32	MP0003880_abnormal_central_pattern	1.38447450
33	MP0004270_analgesia	1.30420526
34	MP0000631_abnormal_neuroendocrine_gland	1.27002109
35	MP0008057_abnormal_DNA_replication	1.26582991
36	MP0000647_abnormal_sebaceous_gland	1.23985851
37	MP0003937_abnormal_limbs/digits/tail_de	1.21885781
38	MP0005551_abnormal_eye_electrophysiolog	1.20179849
39	MP0005646_abnormal_pituitary_gland	1.18786225
40	MP0003693_abnormal_embryo_hatching	1.17880404
41	MP0010094_abnormal_chromosome_stability	1.15978703
42	MP0002653_abnormal_ependyma_morphology	1.15146679
43	MP0002090_abnormal_vision	1.14689815
44	MP0002184_abnormal_innervation	1.13341949
45	MP0008932_abnormal_embryonic_tissue	1.12626216
46	MP0004145_abnormal_muscle_electrophysio	1.11907264
47	MP0004133_heterotaxia	1.11754416
48	MP0003567_abnormal_fetal_cardiomyocyte	1.09782717
49	MP0001286_abnormal_eye_development	1.09052730
50	MP0002272_abnormal_nervous_system	1.08806022
51	MP0002938_white_spotting	1.08428511
52	MP0002210_abnormal_sex_determination	1.08410228
53	MP0000049_abnormal_middle_ear	1.07086628
54	MP0001764_abnormal_homeostasis	1.06267729
55	MP0001929_abnormal_gametogenesis	1.06068682
56	MP0004142_abnormal_muscle_tone	1.05048978
57	MP0000569_abnormal_digit_pigmentation	1.04074935
58	MP0002752_abnormal_somatic_nervous	1.03943382
59	MP0006035_abnormal_mitochondrial_morpho	1.03571317
60	MP0001293_anophthalmia	1.03014769
61	MP0005389_reproductive_system_phenotype	1.02098999
62	MP0002557_abnormal_social/conspecific_i	1.00069269
63	MP0001986_abnormal_taste_sensitivity	0.99207714
64	MP0000427_abnormal_hair_cycle	0.98312022
65	MP0001486_abnormal_startle_reflex	0.97938969
66	MP0005391_vision/eye_phenotype	0.97579739
67	MP0009745_abnormal_behavioral_response	0.97251018
68	MP0004924_abnormal_behavior	0.96682048
69	MP0005386_behavior/neurological_phenoty	0.96682048
70	MP0003698_abnormal_male_reproductive	0.96273734
71	MP0005195_abnormal_posterior_eye	0.96082963
72	MP0002572_abnormal_emotion/affect_behav	0.95265746
73	MP0002734_abnormal_mechanical_nocicepti	0.93917125
74	MP0003786_premature_aging	0.93840955
75	MP0003385_abnormal_body_wall	0.93697515
76	MP0003077_abnormal_cell_cycle	0.91758906
77	MP0004859_abnormal_synaptic_plasticity	0.90617391
78	MP0005423_abnormal_somatic_nervous	0.88787939
79	MP0000653_abnormal_sex_gland	0.88697159
80	MP0003635_abnormal_synaptic_transmissio	0.87522936
81	MP0002063_abnormal_learning/memory/cond	0.87114174
82	MP0002882_abnormal_neuron_morphology	0.86648828
83	MP0004215_abnormal_myocardial_fiber	0.86211587
84	MP0004147_increased_porphyrin_level	0.86065042
85	MP0000516_abnormal_urinary_system	0.85916219
86	MP0005367_renal/urinary_system_phenotyp	0.85916219
87	MP0003861_abnormal_nervous_system	0.85728407
88	MP0002736_abnormal_nociception_after	0.84503282
89	MP0003221_abnormal_cardiomyocyte_apopto	0.84397704
90	MP0002733_abnormal_thermal_nociception	0.83444139
91	MP0001145_abnormal_male_reproductive	0.83293325
92	MP0005670_abnormal_white_adipose	0.82074797
93	MP0005647_abnormal_sex_gland	0.80708302
94	MP0003755_abnormal_palate_morphology	0.80168349
95	MP0000955_abnormal_spinal_cord	0.78255494
96	MP0005084_abnormal_gallbladder_morpholo	0.77737520
97	MP0001905_abnormal_dopamine_level	0.77195135
98	MP0002697_abnormal_eye_size	0.76594180
99	MP0000372_irregular_coat_pigmentation	0.76267898
100	MP0001119_abnormal_female_reproductive	0.76227461

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Colon cancer (HP:0003003)	4.21500489
2	Abnormality of the labia minora (HP:0012880)	3.95141827
3	Medial flaring of the eyebrow (HP:0010747)	3.58425375
4	Congenital primary aphakia (HP:0007707)	3.54861200
5	Gait imbalance (HP:0002141)	3.53399697
6	Adactyly (HP:0009776)	3.47959214
7	Pendular nystagmus (HP:0012043)	3.39503100
8	Nephrogenic diabetes insipidus (HP:0009806)	3.20849949
9	Abolished electroretinogram (ERG) (HP:0000550)	3.17084401
10	Hyperglycinemia (HP:0002154)	3.09343085
11	Molar tooth sign on MRI (HP:0002419)	3.05484833
12	Abnormality of midbrain morphology (HP:0002418)	3.05484833
13	Vitreoretinal degeneration (HP:0000655)	2.93988978
14	Genital tract atresia (HP:0001827)	2.87056362
15	Vaginal atresia (HP:0000148)	2.81711538
16	Supernumerary spleens (HP:0009799)	2.63904346
17	Pancreatic cysts (HP:0001737)	2.61682140
18	Tubulointerstitial nephritis (HP:0001970)	2.59403580
19	Poor coordination (HP:0002370)	2.57656997
20	Bony spicule pigmentary retinopathy (HP:0007737)	2.52409838
21	Cortical dysplasia (HP:0002539)	2.50329617
22	Pancreatic fibrosis (HP:0100732)	2.49493182
23	Aplasia/Hypoplasia of the nipples (HP:0006709)	2.46122040
24	Broad foot (HP:0001769)	2.36427028
25	True hermaphroditism (HP:0010459)	2.34515556
26	Nephronophthisis (HP:0000090)	2.32929522
27	Chorioretinal atrophy (HP:0000533)	2.28724009
28	Renal cortical cysts (HP:0000803)	2.27466553
29	Rectal fistula (HP:0100590)	2.25330738
30	Rectovaginal fistula (HP:0000143)	2.25330738
31	Acute encephalopathy (HP:0006846)	2.24534188
32	Abdominal situs inversus (HP:0003363)	2.18524446
33	Abnormality of abdominal situs (HP:0011620)	2.18524446
34	Septo-optic dysplasia (HP:0100842)	2.17292404
35	Hypoplastic iliac wings (HP:0002866)	2.15576417
36	Progressive macrocephaly (HP:0004481)	2.12361174
37	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.10723450
38	Abnormality of alanine metabolism (HP:0010916)	2.10723450
39	Hyperalaninemia (HP:0003348)	2.10723450
40	Abnormality of glycine metabolism (HP:0010895)	2.10433767
41	Abnormality of serine family amino acid metabolism (HP:0010894)	2.10433767
42	Acute necrotizing encephalopathy (HP:0006965)	2.10294018
43	Thyroid-stimulating hormone excess (HP:0002925)	2.09990766
44	Hepatocellular necrosis (HP:0001404)	2.09606260
45	Absent septum pellucidum (HP:0001331)	2.08954664
46	Postaxial hand polydactyly (HP:0001162)	2.07116318
47	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.07082837
48	Abnormal protein N-linked glycosylation (HP:0012347)	2.07082837
49	Abnormal protein glycosylation (HP:0012346)	2.07082837
50	Abnormal glycosylation (HP:0012345)	2.07082837
51	Keratoconus (HP:0000563)	2.06946337
52	Increased corneal curvature (HP:0100692)	2.06946337
53	Hyperglycinuria (HP:0003108)	2.06534390
54	Decreased testicular size (HP:0008734)	2.05363456
55	Specific learning disability (HP:0001328)	2.04735505
56	Narrow forehead (HP:0000341)	2.03701705
57	Optic nerve hypoplasia (HP:0000609)	2.02884502
58	Hypsarrhythmia (HP:0002521)	2.02838133
59	Chronic hepatic failure (HP:0100626)	2.01694195
60	Hepatoblastoma (HP:0002884)	2.01266695
61	Micropenis (HP:0000054)	2.00448113
62	Limb hypertonia (HP:0002509)	1.99909644
63	Cutaneous finger syndactyly (HP:0010554)	1.98974018
64	Abnormality of the renal cortex (HP:0011035)	1.98149419
65	Postaxial foot polydactyly (HP:0001830)	1.97075237
66	Abnormality of the septum pellucidum (HP:0007375)	1.96965309
67	Abnormality of the renal medulla (HP:0100957)	1.96783839
68	Hepatic necrosis (HP:0002605)	1.94739479
69	Renal hypoplasia (HP:0000089)	1.94051761
70	Oligodactyly (hands) (HP:0001180)	1.93518222
71	Bifid tongue (HP:0010297)	1.92813860
72	Polyphagia (HP:0002591)	1.92643151
73	Congenital hepatic fibrosis (HP:0002612)	1.91969208
74	Esotropia (HP:0000565)	1.91392467
75	Vaginal fistula (HP:0004320)	1.91285332
76	Attenuation of retinal blood vessels (HP:0007843)	1.90580223
77	Optic disc pallor (HP:0000543)	1.89485941
78	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.89145193
79	EEG with generalized epileptiform discharges (HP:0011198)	1.87911613
80	Neoplasm of the adrenal cortex (HP:0100641)	1.87106559
81	Anencephaly (HP:0002323)	1.86051525
82	Cupped ear (HP:0000378)	1.85757621
83	Retinitis pigmentosa (HP:0000510)	1.84026478
84	Sclerocornea (HP:0000647)	1.83796822
85	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.83114696
86	Aplasia/Hypoplasia of the lens (HP:0008063)	1.83101144
87	Lissencephaly (HP:0001339)	1.82955641
88	Epileptiform EEG discharges (HP:0011182)	1.80966686
89	Drooling (HP:0002307)	1.80229111
90	Dandy-Walker malformation (HP:0001305)	1.79628883
91	Abnormality of serum amino acid levels (HP:0003112)	1.78936302
92	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.78674611
93	Progressive inability to walk (HP:0002505)	1.77166621
94	Methylmalonic acidemia (HP:0002912)	1.76239136
95	Absent speech (HP:0001344)	1.76153677
96	Aganglionic megacolon (HP:0002251)	1.74722301
97	Meckel diverticulum (HP:0002245)	1.74445426
98	Pachygyria (HP:0001302)	1.73876987
99	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.72807446
100	Gonadotropin excess (HP:0000837)	1.71135550

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CASK	4.52259038
2	NUAK1	3.28760243
3	WNK3	2.89989906
4	ZAK	2.46765703
5	MAP3K4	2.46339936
6	TRIM28	2.44111178
7	ADRBK2	2.33766260
8	BCR	2.33177611
9	SRPK1	1.97856327
10	DYRK2	1.94765662
11	DYRK3	1.92037981
12	MAP2K7	1.91214417
13	VRK2	1.87005585
14	FRK	1.86471065
15	BMPR1B	1.80360490
16	MARK1	1.79070816
17	TNIK	1.77795901
18	CSNK1G2	1.73706188
19	CSNK1A1L	1.70359440
20	CSNK1G3	1.70257116
21	CSNK1G1	1.68503905
22	MAPK13	1.62948785
23	STK38L	1.54314356
24	PLK3	1.51747894
25	PLK4	1.49203709
26	MKNK2	1.48056381
27	MAP4K2	1.46982530
28	CDC7	1.42645659
29	TTK	1.41032834
30	EPHA3	1.37859369
31	NLK	1.35577557
32	ERBB3	1.32545468
33	EIF2AK3	1.30312829
34	VRK1	1.29647180
35	MKNK1	1.26711960
36	PLK2	1.25824400
37	TSSK6	1.25802627
38	TAF1	1.25403710
39	BUB1	1.22055040
40	CDK19	1.21084197
41	BRD4	1.15926881
42	BRSK2	1.15377486
43	PINK1	1.13322957
44	PLK1	1.05103493
45	PRKCG	0.95832222
46	PRKCE	0.94335486
47	EPHA4	0.94253478
48	DAPK1	0.93354415
49	NEK1	0.91210061
50	DYRK1A	0.89548006
51	STK16	0.87674697
52	DYRK1B	0.84046906
53	INSRR	0.81549336
54	OXSR1	0.81132852
55	NTRK2	0.77576314
56	PRKD3	0.70765994
57	OBSCN	0.70097821
58	TGFBR1	0.69644120
59	RAF1	0.68463704
60	CDK9	0.67110909
61	STK3	0.65202247
62	RPS6KA4	0.62852876
63	ATR	0.62807261
64	STK39	0.62424740
65	MELK	0.62371573
66	ATM	0.62151844
67	DAPK2	0.61963338
68	PASK	0.60037910
69	GRK1	0.58968491
70	CSNK1E	0.56776715
71	MAP3K5	0.55512328
72	PKN1	0.55161715
73	ERBB4	0.55125495
74	CCNB1	0.51810882
75	WEE1	0.51378342
76	ARAF	0.49885710
77	PBK	0.49714690
78	CSNK1D	0.49464908
79	CAMK2A	0.49400514
80	FGFR2	0.48883671
81	AURKB	0.47518612
82	CHEK2	0.46675824
83	MAPKAPK5	0.46133582
84	BCKDK	0.44575673
85	TLK1	0.43642525
86	ACVR1B	0.42104679
87	EIF2AK1	0.40434460
88	TIE1	0.39744282
89	PRKACB	0.39099713
90	CHEK1	0.38644089
91	PAK3	0.38622373
92	MAP2K4	0.38016848
93	WNK4	0.38007426
94	ADRBK1	0.36348046
95	DMPK	0.35137746
96	PIM2	0.33702227
97	CSNK2A1	0.33285577
98	LATS1	0.33041680
99	RPS6KA5	0.32728629
100	CDK14	0.32118016

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	3.14821704
2	Basal transcription factors_Homo sapiens_hsa03022	3.10331831
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.81405976
4	Protein export_Homo sapiens_hsa03060	2.66477249
5	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.48310891
6	Steroid biosynthesis_Homo sapiens_hsa00100	2.39790666
7	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.29651625
8	RNA polymerase_Homo sapiens_hsa03020	2.20658280
9	Propanoate metabolism_Homo sapiens_hsa00640	2.15255240
10	Nicotine addiction_Homo sapiens_hsa05033	2.05356170
11	Mismatch repair_Homo sapiens_hsa03430	1.97693453
12	RNA degradation_Homo sapiens_hsa03018	1.95429031
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.92195359
14	Fanconi anemia pathway_Homo sapiens_hsa03460	1.89081995
15	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.84093518
16	Caffeine metabolism_Homo sapiens_hsa00232	1.83615496
17	Folate biosynthesis_Homo sapiens_hsa00790	1.82704300
18	Non-homologous end-joining_Homo sapiens_hsa03450	1.61553647
19	Parkinsons disease_Homo sapiens_hsa05012	1.59307079
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.54579070
21	Butanoate metabolism_Homo sapiens_hsa00650	1.51560009
22	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.50568799
23	One carbon pool by folate_Homo sapiens_hsa00670	1.48554762
24	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.48209436
25	Cell cycle_Homo sapiens_hsa04110	1.47393012
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.42994455
27	Proteasome_Homo sapiens_hsa03050	1.42850041
28	Homologous recombination_Homo sapiens_hsa03440	1.40447127
29	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.39711449
30	RNA transport_Homo sapiens_hsa03013	1.38848313
31	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.36782072
32	Phototransduction_Homo sapiens_hsa04744	1.36343298
33	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.32459051
34	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.32457511
35	Circadian rhythm_Homo sapiens_hsa04710	1.31555359
36	Oocyte meiosis_Homo sapiens_hsa04114	1.29550610
37	Nucleotide excision repair_Homo sapiens_hsa03420	1.28273222
38	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.24934759
39	Huntingtons disease_Homo sapiens_hsa05016	1.24697614
40	Taste transduction_Homo sapiens_hsa04742	1.24292816
41	Nitrogen metabolism_Homo sapiens_hsa00910	1.17720785
42	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.17701172
43	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.16264218
44	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.12400876
45	Spliceosome_Homo sapiens_hsa03040	1.08725776
46	p53 signaling pathway_Homo sapiens_hsa04115	1.07142451
47	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.04824690
48	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.04625643
49	Collecting duct acid secretion_Homo sapiens_hsa04966	1.00926481
50	Peroxisome_Homo sapiens_hsa04146	0.99602851
51	Fatty acid elongation_Homo sapiens_hsa00062	0.99169941
52	GABAergic synapse_Homo sapiens_hsa04727	0.97619595
53	Selenocompound metabolism_Homo sapiens_hsa00450	0.95825011
54	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.94595795
55	Olfactory transduction_Homo sapiens_hsa04740	0.92665237
56	Base excision repair_Homo sapiens_hsa03410	0.91566490
57	Hippo signaling pathway_Homo sapiens_hsa04390	0.89333711
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.88609788
59	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.87059906
60	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.85053493
61	Regulation of autophagy_Homo sapiens_hsa04140	0.85046691
62	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.84641166
63	Alzheimers disease_Homo sapiens_hsa05010	0.82615733
64	mRNA surveillance pathway_Homo sapiens_hsa03015	0.81320279
65	Basal cell carcinoma_Homo sapiens_hsa05217	0.81220020
66	Pyrimidine metabolism_Homo sapiens_hsa00240	0.78917587
67	Circadian entrainment_Homo sapiens_hsa04713	0.78437294
68	DNA replication_Homo sapiens_hsa03030	0.76732449
69	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.76262111
70	Morphine addiction_Homo sapiens_hsa05032	0.75037484
71	Cardiac muscle contraction_Homo sapiens_hsa04260	0.74095580
72	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.71787028
73	Glutamatergic synapse_Homo sapiens_hsa04724	0.71054634
74	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.67378040
75	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66922937
76	Pyruvate metabolism_Homo sapiens_hsa00620	0.64741850
77	Wnt signaling pathway_Homo sapiens_hsa04310	0.64722564
78	Retinol metabolism_Homo sapiens_hsa00830	0.63322027
79	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.63320809
80	Purine metabolism_Homo sapiens_hsa00230	0.61186686
81	Ether lipid metabolism_Homo sapiens_hsa00565	0.60940380
82	Metabolic pathways_Homo sapiens_hsa01100	0.59220928
83	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.58622966
84	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.54251073
85	Dopaminergic synapse_Homo sapiens_hsa04728	0.54137732
86	Linoleic acid metabolism_Homo sapiens_hsa00591	0.49398585
87	Alcoholism_Homo sapiens_hsa05034	0.48980722
88	Chemical carcinogenesis_Homo sapiens_hsa05204	0.48745553
89	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.44715866
90	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.43440837
91	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.40145292
92	Serotonergic synapse_Homo sapiens_hsa04726	0.39824949
93	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.39205513
94	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.36251415
95	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.33301761
96	Amphetamine addiction_Homo sapiens_hsa05031	0.32728427
97	Insulin secretion_Homo sapiens_hsa04911	0.30264636
98	Tryptophan metabolism_Homo sapiens_hsa00380	0.30194678
99	Cocaine addiction_Homo sapiens_hsa05030	0.30160673
100	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.27361129

ZNF501

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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