ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	phenol-containing compound catabolic process (GO:0019336)	8.35846902
2	hormone catabolic process (GO:0042447)	6.51253161
3	nonmotile primary cilium assembly (GO:0035058)	6.45847756
4	histone H2A acetylation (GO:0043968)	5.48572170
5	presynaptic membrane assembly (GO:0097105)	5.00235313
6	thyroid hormone generation (GO:0006590)	4.96960378
7	thyroid hormone metabolic process (GO:0042403)	4.67254007
8	branched-chain amino acid catabolic process (GO:0009083)	4.57773123
9	cytochrome complex assembly (GO:0017004)	4.46738456
10	presynaptic membrane organization (GO:0097090)	4.43043100
11	otic vesicle formation (GO:0030916)	4.39238211
12	limb bud formation (GO:0060174)	4.37732874
13	respiratory chain complex IV assembly (GO:0008535)	4.30301775
14	positive regulation of male gonad development (GO:2000020)	4.27236060
15	prenylation (GO:0097354)	4.24265847
16	protein prenylation (GO:0018342)	4.24265847
17	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	4.13015864
18	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	4.11961085
19	negative regulation of translation, ncRNA-mediated (GO:0040033)	4.11961085
20	regulation of translation, ncRNA-mediated (GO:0045974)	4.11961085
21	organ growth (GO:0035265)	4.05139516
22	L-fucose catabolic process (GO:0042355)	4.03813215
23	fucose catabolic process (GO:0019317)	4.03813215
24	L-fucose metabolic process (GO:0042354)	4.03813215
25	regulation of meiosis I (GO:0060631)	3.93019815
26	photoreceptor cell maintenance (GO:0045494)	3.92175602
27	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.88762044
28	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	3.73978199
29	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.67539223
30	intraciliary transport (GO:0042073)	3.59787584
31	branched-chain amino acid metabolic process (GO:0009081)	3.58179006
32	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	3.55837041
33	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	3.55837041
34	regulation of male gonad development (GO:2000018)	3.52194775
35	cartilage morphogenesis (GO:0060536)	3.48944615
36	regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)	3.48764412
37	protein localization to cilium (GO:0061512)	3.46478079
38	behavioral response to nicotine (GO:0035095)	3.39901862
39	C4-dicarboxylate transport (GO:0015740)	3.39019203
40	L-methionine salvage (GO:0071267)	3.35016488
41	L-methionine biosynthetic process (GO:0071265)	3.35016488
42	amino acid salvage (GO:0043102)	3.35016488
43	DNA integration (GO:0015074)	3.33502129
44	valine metabolic process (GO:0006573)	3.26259414
45	chromatin remodeling at centromere (GO:0031055)	3.24194823
46	neuronal action potential propagation (GO:0019227)	3.22698267
47	DNA double-strand break processing (GO:0000729)	3.17990581
48	regulation of collateral sprouting (GO:0048670)	3.15725918
49	methionine biosynthetic process (GO:0009086)	3.10578200
50	righting reflex (GO:0060013)	3.08508457
51	regulation of neuron projection regeneration (GO:0070570)	3.08336217
52	regulation of axon regeneration (GO:0048679)	3.08336217
53	microtubule anchoring (GO:0034453)	3.05604640
54	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.04329561
55	reflex (GO:0060004)	3.02169328
56	CENP-A containing nucleosome assembly (GO:0034080)	2.98493127
57	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	2.97559297
58	neuron cell-cell adhesion (GO:0007158)	2.94090011
59	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.93213034
60	double-strand break repair via homologous recombination (GO:0000724)	2.90221185
61	protein K6-linked ubiquitination (GO:0085020)	2.89332195
62	seminiferous tubule development (GO:0072520)	2.87803421
63	recombinational repair (GO:0000725)	2.86605469
64	methionine metabolic process (GO:0006555)	2.85608781
65	inner ear receptor stereocilium organization (GO:0060122)	2.81896423
66	DNA replication-dependent nucleosome assembly (GO:0006335)	2.79860250
67	DNA replication-dependent nucleosome organization (GO:0034723)	2.79860250
68	epithelial tube branching involved in lung morphogenesis (GO:0060441)	2.73633323
69	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	2.71464489
70	histone mRNA metabolic process (GO:0008334)	2.70413927
71	protein heterotetramerization (GO:0051290)	2.70088895
72	cellular modified amino acid catabolic process (GO:0042219)	2.69484424
73	proline transport (GO:0015824)	2.67736687
74	histone exchange (GO:0043486)	2.62797966
75	negative regulation of neurotransmitter transport (GO:0051589)	2.62038990
76	muscle organ morphogenesis (GO:0048644)	2.59403383
77	lactate metabolic process (GO:0006089)	2.58375225
78	centrosome organization (GO:0051297)	2.56293751
79	regulation of hippo signaling (GO:0035330)	2.56239693
80	cerebellar Purkinje cell layer development (GO:0021680)	2.52630433
81	cell proliferation in forebrain (GO:0021846)	2.51790462
82	oligodendrocyte differentiation (GO:0048709)	2.50760465
83	peptidyl-histidine modification (GO:0018202)	2.48960562
84	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.48178872
85	embryonic digestive tract development (GO:0048566)	2.48108035
86	postsynaptic membrane organization (GO:0001941)	2.47274520
87	retinal rod cell development (GO:0046548)	2.46200925
88	cerebral cortex radially oriented cell migration (GO:0021799)	2.45968871
89	positive regulation of growth hormone secretion (GO:0060124)	2.44802814
90	cilium assembly (GO:0042384)	2.44716409
91	regulation of feeding behavior (GO:0060259)	2.44399144
92	urate metabolic process (GO:0046415)	2.43315063
93	negative regulation of systemic arterial blood pressure (GO:0003085)	2.43021348
94	DNA replication-independent nucleosome organization (GO:0034724)	2.42224787
95	DNA replication-independent nucleosome assembly (GO:0006336)	2.42224787
96	cilium organization (GO:0044782)	2.42222857
97	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.41801617
98	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.41801617
99	neurotransmitter-gated ion channel clustering (GO:0072578)	2.41595283
100	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.39146729

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SALL1_21062744_ChIP-ChIP_HESCs_Human	4.75663109
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.58047671
3	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	3.25834292
4	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.92125252
5	EWS_26573619_Chip-Seq_HEK293_Human	2.83669013
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.68415236
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.65911332
8	FUS_26573619_Chip-Seq_HEK293_Human	2.57471187
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.52740315
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.47024477
11	P300_19829295_ChIP-Seq_ESCs_Human	2.43380161
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.40945100
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.35832785
14	EZH2_22144423_ChIP-Seq_EOC_Human	2.19732550
15	ER_23166858_ChIP-Seq_MCF-7_Human	2.05014036
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.04779797
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.01543552
18	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	2.00123877
19	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.84732549
20	BCAT_22108803_ChIP-Seq_LS180_Human	1.81832317
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.79102277
22	SMAD4_21799915_ChIP-Seq_A2780_Human	1.77107906
23	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.72778450
24	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.69056086
25	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.68878740
26	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.68878740
27	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.68232731
28	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.66476263
29	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.64211253
30	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.63813881
31	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.59388851
32	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.58859987
33	AR_25329375_ChIP-Seq_VCAP_Human	1.58630228
34	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.58019473
35	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.58015329
36	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56404493
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.56380276
38	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.55374742
39	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.51262878
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50997931
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.50727334
42	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.49243678
43	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.47181960
44	IGF1R_20145208_ChIP-Seq_DFB_Human	1.46707602
45	STAT3_23295773_ChIP-Seq_U87_Human	1.46456038
46	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.45116734
47	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.41580939
48	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.41433238
49	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.41157785
50	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.39783334
51	AR_21572438_ChIP-Seq_LNCaP_Human	1.38798216
52	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.34102586
53	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.32621206
54	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.32399058
55	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.32236751
56	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.31998806
57	RUNX2_22187159_ChIP-Seq_PCA_Human	1.31539235
58	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.30425248
59	VDR_22108803_ChIP-Seq_LS180_Human	1.30417020
60	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.30230249
61	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.30018365
62	TCF4_23295773_ChIP-Seq_U87_Human	1.28014487
63	RXR_22108803_ChIP-Seq_LS180_Human	1.27293837
64	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27001533
65	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.26820807
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.24498066
67	TCF4_22108803_ChIP-Seq_LS180_Human	1.24324014
68	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.24239643
69	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.23893089
70	ELK1_19687146_ChIP-ChIP_HELA_Human	1.23228981
71	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.20851993
72	CBP_20019798_ChIP-Seq_JUKART_Human	1.20851993
73	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20343884
74	P53_22387025_ChIP-Seq_ESCs_Mouse	1.20146268
75	SOX9_26525672_Chip-Seq_HEART_Mouse	1.19091912
76	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.18885565
77	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.18678640
78	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.18619371
79	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.17876533
80	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.17056366
81	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.17056357
82	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.16869825
83	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14741278
84	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.13589615
85	RNF2_27304074_Chip-Seq_NSC_Mouse	1.12568169
86	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.12540480
87	NANOG_19829295_ChIP-Seq_ESCs_Human	1.12307998
88	SOX2_19829295_ChIP-Seq_ESCs_Human	1.12307998
89	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.11501954
90	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.11207572
91	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.07176200
92	P300_18555785_Chip-Seq_ESCs_Mouse	1.06193187
93	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.06155222
94	IRF1_19129219_ChIP-ChIP_H3396_Human	1.05029365
95	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.04565284
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.03343119
97	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.02236909
98	KDM2B_26808549_Chip-Seq_REH_Human	1.00859907
99	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.00717969
100	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.94122304

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000566_synostosis	4.33431714
2	MP0002736_abnormal_nociception_after	4.17352467
3	MP0008877_abnormal_DNA_methylation	3.66231923
4	MP0000579_abnormal_nail_morphology	2.68442853
5	MP0001968_abnormal_touch/_nociception	2.66544805
6	MP0008057_abnormal_DNA_replication	2.64063393
7	MP0000569_abnormal_digit_pigmentation	2.59354320
8	MP0006292_abnormal_olfactory_placode	2.53576311
9	MP0002282_abnormal_trachea_morphology	2.53042181
10	MP0003868_abnormal_feces_composition	2.40524041
11	MP0005646_abnormal_pituitary_gland	2.39390973
12	MP0002102_abnormal_ear_morphology	2.38140897
13	MP0003136_yellow_coat_color	2.22770055
14	MP0003646_muscle_fatigue	2.19146968
15	MP0008789_abnormal_olfactory_epithelium	1.97446700
16	MP0003880_abnormal_central_pattern	1.94974261
17	MP0003890_abnormal_embryonic-extraembry	1.80736856
18	MP0004145_abnormal_muscle_electrophysio	1.70155257
19	MP0001188_hyperpigmentation	1.69202004
20	MP0002938_white_spotting	1.67704376
21	MP0005499_abnormal_olfactory_system	1.67592905
22	MP0005394_taste/olfaction_phenotype	1.67592905
23	MP0001486_abnormal_startle_reflex	1.64306614
24	MP0003567_abnormal_fetal_cardiomyocyte	1.63789743
25	MP0002233_abnormal_nose_morphology	1.61824196
26	MP0002249_abnormal_larynx_morphology	1.59830425
27	MP0003937_abnormal_limbs/digits/tail_de	1.54202718
28	MP0000631_abnormal_neuroendocrine_gland	1.39311867
29	MP0003942_abnormal_urinary_system	1.35366614
30	MP0003787_abnormal_imprinting	1.34457493
31	MP0000383_abnormal_hair_follicle	1.32524256
32	MP0005645_abnormal_hypothalamus_physiol	1.30868530
33	MP0001177_atelectasis	1.29936938
34	MP0010386_abnormal_urinary_bladder	1.29893031
35	MP0005253_abnormal_eye_physiology	1.29210145
36	MP0005551_abnormal_eye_electrophysiolog	1.28900715
37	MP0003755_abnormal_palate_morphology	1.27952797
38	MP0001764_abnormal_homeostasis	1.26476418
39	MP0008058_abnormal_DNA_repair	1.24893422
40	MP0001529_abnormal_vocalization	1.23706167
41	MP0003195_calcinosis	1.21959146
42	MP0005248_abnormal_Harderian_gland	1.16073952
43	MP0002295_abnormal_pulmonary_circulatio	1.14879046
44	MP0000778_abnormal_nervous_system	1.14109988
45	MP0004215_abnormal_myocardial_fiber	1.12638468
46	MP0000427_abnormal_hair_cycle	1.11518099
47	MP0000538_abnormal_urinary_bladder	1.11497818
48	MP0001984_abnormal_olfaction	1.10215434
49	MP0000049_abnormal_middle_ear	1.09775475
50	MP0001485_abnormal_pinna_reflex	1.08458843
51	MP0001293_anophthalmia	1.07297982
52	MP0006276_abnormal_autonomic_nervous	1.04810299
53	MP0003283_abnormal_digestive_organ	1.03317413
54	MP0002272_abnormal_nervous_system	1.00392496
55	MP0006072_abnormal_retinal_apoptosis	1.00093997
56	MP0003252_abnormal_bile_duct	0.98999687
57	MP0003186_abnormal_redox_activity	0.98693428
58	MP0002234_abnormal_pharynx_morphology	0.96428982
59	MP0000534_abnormal_ureter_morphology	0.96189006
60	MP0010307_abnormal_tumor_latency	0.95886246
61	MP0010094_abnormal_chromosome_stability	0.93055083
62	MP0000428_abnormal_craniofacial_morphol	0.91857565
63	MP0002168_other_aberrant_phenotype	0.91788884
64	MP0005174_abnormal_tail_pigmentation	0.90796255
65	MP0001666_abnormal_nutrient_absorption	0.89685651
66	MP0003011_delayed_dark_adaptation	0.88389710
67	MP0004264_abnormal_extraembryonic_tissu	0.87815943
68	MP0006054_spinal_hemorrhage	0.87351562
69	MP0005084_abnormal_gallbladder_morpholo	0.85386493
70	MP0003115_abnormal_respiratory_system	0.85275025
71	MP0002751_abnormal_autonomic_nervous	0.84798743
72	MP0002138_abnormal_hepatobiliary_system	0.81830527
73	MP0005220_abnormal_exocrine_pancreas	0.80660534
74	MP0009250_abnormal_appendicular_skeleto	0.80469029
75	MP0001963_abnormal_hearing_physiology	0.80359451
76	MP0009053_abnormal_anal_canal	0.80333480
77	MP0001501_abnormal_sleep_pattern	0.80305952
78	MP0005367_renal/urinary_system_phenotyp	0.78013293
79	MP0000516_abnormal_urinary_system	0.78013293
80	MP0000653_abnormal_sex_gland	0.77664219
81	MP0003943_abnormal_hepatobiliary_system	0.77576522
82	MP0001119_abnormal_female_reproductive	0.77261880
83	MP0005391_vision/eye_phenotype	0.76462199
84	MP0003385_abnormal_body_wall	0.76004157
85	MP0002111_abnormal_tail_morphology	0.74699962
86	MP0004885_abnormal_endolymph	0.73491831
87	MP0005195_abnormal_posterior_eye	0.71294367
88	MP0003698_abnormal_male_reproductive	0.70994786
89	MP0003111_abnormal_nucleus_morphology	0.70951547
90	MP0003121_genomic_imprinting	0.69995115
91	MP0005395_other_phenotype	0.69693159
92	MP0001145_abnormal_male_reproductive	0.69565646
93	MP0002210_abnormal_sex_determination	0.68804750
94	MP0001970_abnormal_pain_threshold	0.67867635
95	MP0002638_abnormal_pupillary_reflex	0.67487895
96	MP0002109_abnormal_limb_morphology	0.67064103
97	MP0004142_abnormal_muscle_tone	0.66401250
98	MP0010030_abnormal_orbit_morphology	0.65627262
99	MP0005389_reproductive_system_phenotype	0.64673320
100	MP0003693_abnormal_embryo_hatching	0.64119997

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the lower motor neuron (HP:0002366)	5.68577491
2	Abnormality of the labia minora (HP:0012880)	5.47371810
3	Amyotrophic lateral sclerosis (HP:0007354)	5.00259559
4	True hermaphroditism (HP:0010459)	3.88651657
5	Intestinal atresia (HP:0011100)	3.85282780
6	Increased density of long bones (HP:0006392)	3.69940993
7	Abnormality of the labia majora (HP:0012881)	3.68676891
8	Hypoplastic labia majora (HP:0000059)	3.47662886
9	Bifid tongue (HP:0010297)	3.44200200
10	Atrophy/Degeneration involving motor neurons (HP:0007373)	3.31110109
11	Vaginal atresia (HP:0000148)	3.02800828
12	Dyskinesia (HP:0100660)	3.01763758
13	Megalencephaly (HP:0001355)	2.92891478
14	Genital tract atresia (HP:0001827)	2.88189443
15	Congenital primary aphakia (HP:0007707)	2.84250608
16	Pancreatic cysts (HP:0001737)	2.83689287
17	Abnormal lung lobation (HP:0002101)	2.82889691
18	Medial flaring of the eyebrow (HP:0010747)	2.81221924
19	Hyperventilation (HP:0002883)	2.79505217
20	Gait imbalance (HP:0002141)	2.72816704
21	Tetraparesis (HP:0002273)	2.63464764
22	Pancreatic fibrosis (HP:0100732)	2.61598236
23	Choroideremia (HP:0001139)	2.60097286
24	Nephrogenic diabetes insipidus (HP:0009806)	2.58892553
25	Aqueductal stenosis (HP:0002410)	2.55205328
26	Stomach cancer (HP:0012126)	2.50105626
27	Severe visual impairment (HP:0001141)	2.49690160
28	Labial hypoplasia (HP:0000066)	2.47184334
29	Aplasia/Hypoplasia of the sternum (HP:0006714)	2.46900442
30	Long clavicles (HP:0000890)	2.46806448
31	Sclerocornea (HP:0000647)	2.43713975
32	Facial hemangioma (HP:0000329)	2.39599216
33	Hepatocellular necrosis (HP:0001404)	2.38613765
34	Chronic hepatic failure (HP:0100626)	2.38303731
35	Gastrointestinal atresia (HP:0002589)	2.37058313
36	Abnormality of the labia (HP:0000058)	2.36432174
37	Alacrima (HP:0000522)	2.35200537
38	Abnormality of midbrain morphology (HP:0002418)	2.34018299
39	Molar tooth sign on MRI (HP:0002419)	2.34018299
40	Nephronophthisis (HP:0000090)	2.32357853
41	Paraparesis (HP:0002385)	2.31803899
42	Short 4th metacarpal (HP:0010044)	2.29573983
43	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	2.29573983
44	Male pseudohermaphroditism (HP:0000037)	2.28722065
45	Hypoplastic female external genitalia (HP:0012815)	2.28096145
46	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.25630542
47	Preaxial hand polydactyly (HP:0001177)	2.21690171
48	Postaxial hand polydactyly (HP:0001162)	2.21520173
49	Postaxial foot polydactyly (HP:0001830)	2.18503356
50	Decreased lacrimation (HP:0000633)	2.15871933
51	Abnormality of the renal medulla (HP:0100957)	2.12842649
52	Growth hormone deficiency (HP:0000824)	2.12606433
53	Narrow forehead (HP:0000341)	2.11845304
54	Poor coordination (HP:0002370)	2.09607600
55	Median cleft lip (HP:0000161)	2.07366585
56	Hyperglycinuria (HP:0003108)	2.04874966
57	Attenuation of retinal blood vessels (HP:0007843)	1.99760764
58	Abnormality of the septum pellucidum (HP:0007375)	1.99310090
59	Nephroblastoma (Wilms tumor) (HP:0002667)	1.98992441
60	Hepatic necrosis (HP:0002605)	1.98565744
61	Specific learning disability (HP:0001328)	1.97575542
62	Broad foot (HP:0001769)	1.93746869
63	Anencephaly (HP:0002323)	1.92130484
64	Absent septum pellucidum (HP:0001331)	1.91573148
65	Abnormality of incisor morphology (HP:0011063)	1.91521831
66	Calf muscle hypertrophy (HP:0008981)	1.90646590
67	Impulsivity (HP:0100710)	1.90348575
68	Meningioma (HP:0002858)	1.90101586
69	Dandy-Walker malformation (HP:0001305)	1.89884257
70	Renal hypoplasia (HP:0000089)	1.89869996
71	Hepatoblastoma (HP:0002884)	1.89767990
72	Preaxial foot polydactyly (HP:0001841)	1.89045423
73	Abnormality of lateral ventricle (HP:0030047)	1.88712333
74	Embryonal renal neoplasm (HP:0011794)	1.88303078
75	Type II lissencephaly (HP:0007260)	1.86681507
76	Mitochondrial inheritance (HP:0001427)	1.85580932
77	Septo-optic dysplasia (HP:0100842)	1.84522925
78	Spastic paraparesis (HP:0002313)	1.84273246
79	Partial duplication of thumb phalanx (HP:0009944)	1.83582510
80	Cerebral edema (HP:0002181)	1.82799653
81	Abnormality of the corticospinal tract (HP:0002492)	1.80811056
82	Increased hepatocellular lipid droplets (HP:0006565)	1.80296512
83	Congenital sensorineural hearing impairment (HP:0008527)	1.79264235
84	Rib fusion (HP:0000902)	1.78297237
85	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.77871446
86	Cystic liver disease (HP:0006706)	1.77455080
87	Increased number of teeth (HP:0011069)	1.77372952
88	Lipid accumulation in hepatocytes (HP:0006561)	1.75669840
89	Cystic hygroma (HP:0000476)	1.75058545
90	Hip dysplasia (HP:0001385)	1.73008966
91	Renal Fanconi syndrome (HP:0001994)	1.72474950
92	Bifid scrotum (HP:0000048)	1.71754611
93	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.70641539
94	Abolished electroretinogram (ERG) (HP:0000550)	1.68580131
95	Hyperglycinemia (HP:0002154)	1.68405661
96	Renal dysplasia (HP:0000110)	1.68334323
97	Pancreatic islet-cell hyperplasia (HP:0004510)	1.66159321
98	Sloping forehead (HP:0000340)	1.65025315
99	Pendular nystagmus (HP:0012043)	1.64859924
100	Abnormality of glycine metabolism (HP:0010895)	1.64296108

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TNIK	4.01640167
2	FRK	3.67874487
3	MAPK13	3.36337704
4	NUAK1	3.05370449
5	MAP4K2	2.83170546
6	PRKD3	2.72152819
7	SRPK1	2.66219185
8	CASK	2.22718477
9	TRIM28	2.14689205
10	BRSK2	1.94454375
11	MKNK2	1.91490436
12	WEE1	1.83270371
13	MKNK1	1.77078545
14	PNCK	1.68191918
15	FGFR2	1.66906388
16	STK38L	1.65762614
17	BMPR1B	1.64751757
18	CDC7	1.61352801
19	RPS6KB2	1.60534575
20	DMPK	1.56643976
21	WNK3	1.52867761
22	ZAK	1.46335210
23	DYRK3	1.39755577
24	MAP3K12	1.37708611
25	BCKDK	1.35802942
26	EPHA4	1.31121979
27	MAP3K2	1.30655020
28	PBK	1.25723227
29	PKN1	1.24452027
30	ERBB3	1.20068590
31	ACVR1B	1.18724746
32	PDK2	1.17354050
33	EIF2AK3	1.15022267
34	RPS6KA4	1.12990588
35	BRD4	1.12660837
36	PLK4	1.08686552
37	RAF1	1.08559954
38	ADRBK2	1.05039135
39	NTRK3	1.03920368
40	AKT3	1.03243566
41	YES1	1.00512245
42	PRKD2	1.00493001
43	TAOK3	0.98621229
44	NEK1	0.95811704
45	PINK1	0.94892210
46	SGK2	0.92437357
47	PLK3	0.88826411
48	CSNK1G1	0.87967983
49	MAPKAPK5	0.83032308
50	CCNB1	0.82925023
51	CDK19	0.82751537
52	MST4	0.82159357
53	TNK2	0.78462841
54	PRKCG	0.76431575
55	PRKCE	0.76212027
56	EIF2AK1	0.74224054
57	ILK	0.73317308
58	PIK3CA	0.71466913
59	MINK1	0.71105472
60	TGFBR1	0.70501805
61	STK39	0.69456281
62	STK16	0.69361650
63	PLK1	0.67880678
64	CSNK1G3	0.66318043
65	MARK1	0.65232868
66	CAMK2G	0.62956100
67	CAMK2B	0.61601226
68	GRK1	0.60238210
69	PAK3	0.59967086
70	PRKCH	0.59056998
71	PLK2	0.58239109
72	TTK	0.57556072
73	ROCK1	0.57388269
74	CAMK2D	0.54136405
75	NTRK2	0.54076463
76	CSNK1G2	0.53144594
77	CHEK2	0.51160824
78	OXSR1	0.47906025
79	ATM	0.47539160
80	VRK1	0.46629951
81	MARK3	0.46586028
82	CSNK1A1L	0.46044746
83	CSNK1A1	0.45245489
84	OBSCN	0.43445165
85	CSNK1D	0.42681786
86	ADRBK1	0.41776786
87	CDK8	0.41619409
88	EIF2AK2	0.39774518
89	PRKACA	0.39398439
90	VRK2	0.39184938
91	ATR	0.38611169
92	SGK223	0.38236792
93	SGK494	0.38236792
94	INSRR	0.36915996
95	ERBB2	0.35480765
96	CLK1	0.35103173
97	IRAK1	0.34089197
98	CAMK2A	0.33806917
99	PRKCQ	0.33575391
100	FGFR1	0.33221894

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Propanoate metabolism_Homo sapiens_hsa00640	3.24954182
2	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.15017806
3	Base excision repair_Homo sapiens_hsa03410	3.14468662
4	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.93012236
5	Butanoate metabolism_Homo sapiens_hsa00650	2.63764682
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.51804198
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.34704912
8	Protein export_Homo sapiens_hsa03060	2.26001440
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.24028127
10	Homologous recombination_Homo sapiens_hsa03440	2.15240660
11	DNA replication_Homo sapiens_hsa03030	2.14004141
12	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.09255300
13	Nicotine addiction_Homo sapiens_hsa05033	2.05483294
14	Proteasome_Homo sapiens_hsa03050	1.99311947
15	RNA polymerase_Homo sapiens_hsa03020	1.93742518
16	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.70268586
17	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.69610418
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.52719053
19	Pyrimidine metabolism_Homo sapiens_hsa00240	1.48583865
20	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.48018807
21	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.43265503
22	Non-homologous end-joining_Homo sapiens_hsa03450	1.40867392
23	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.36124770
24	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.35925992
25	Mismatch repair_Homo sapiens_hsa03430	1.32661669
26	Steroid biosynthesis_Homo sapiens_hsa00100	1.30690848
27	Spliceosome_Homo sapiens_hsa03040	1.25890770
28	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.25824193
29	Linoleic acid metabolism_Homo sapiens_hsa00591	1.25330495
30	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.23140884
31	Purine metabolism_Homo sapiens_hsa00230	1.22717068
32	p53 signaling pathway_Homo sapiens_hsa04115	1.19207101
33	Phototransduction_Homo sapiens_hsa04744	1.18502061
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.18335672
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.16418882
36	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.14863317
37	Fatty acid elongation_Homo sapiens_hsa00062	1.14795538
38	Amphetamine addiction_Homo sapiens_hsa05031	1.13844657
39	Tryptophan metabolism_Homo sapiens_hsa00380	1.11914748
40	Nucleotide excision repair_Homo sapiens_hsa03420	1.11507432
41	Basal transcription factors_Homo sapiens_hsa03022	1.09331015
42	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07191748
43	Glycerolipid metabolism_Homo sapiens_hsa00561	1.05904823
44	Basal cell carcinoma_Homo sapiens_hsa05217	1.03673809
45	Taste transduction_Homo sapiens_hsa04742	1.02374222
46	Oxidative phosphorylation_Homo sapiens_hsa00190	1.02309315
47	Ether lipid metabolism_Homo sapiens_hsa00565	0.99192828
48	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.98884659
49	Retinol metabolism_Homo sapiens_hsa00830	0.96507854
50	Glutathione metabolism_Homo sapiens_hsa00480	0.91943268
51	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.91872190
52	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.89388334
53	beta-Alanine metabolism_Homo sapiens_hsa00410	0.87742384
54	Caffeine metabolism_Homo sapiens_hsa00232	0.86681272
55	Huntingtons disease_Homo sapiens_hsa05016	0.86115444
56	Cocaine addiction_Homo sapiens_hsa05030	0.82294668
57	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.82123460
58	Olfactory transduction_Homo sapiens_hsa04740	0.80291521
59	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.79748027
60	Parkinsons disease_Homo sapiens_hsa05012	0.78564587
61	Peroxisome_Homo sapiens_hsa04146	0.77716169
62	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.75624606
63	Melanoma_Homo sapiens_hsa05218	0.75523931
64	Cell cycle_Homo sapiens_hsa04110	0.73427342
65	RNA transport_Homo sapiens_hsa03013	0.73118213
66	RNA degradation_Homo sapiens_hsa03018	0.71432813
67	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.70669628
68	Fatty acid metabolism_Homo sapiens_hsa01212	0.68035149
69	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.64090464
70	Nitrogen metabolism_Homo sapiens_hsa00910	0.57285651
71	Pyruvate metabolism_Homo sapiens_hsa00620	0.57173462
72	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.56694601
73	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.56341727
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.56122009
75	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.56105248
76	One carbon pool by folate_Homo sapiens_hsa00670	0.56104881
77	Metabolic pathways_Homo sapiens_hsa01100	0.54599676
78	Prostate cancer_Homo sapiens_hsa05215	0.53920835
79	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.51698771
80	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.51425271
81	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.48757296
82	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.48277140
83	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.48096197
84	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.47365200
85	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.46049492
86	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.45297834
87	cAMP signaling pathway_Homo sapiens_hsa04024	0.43730988
88	Serotonergic synapse_Homo sapiens_hsa04726	0.40840536
89	Sulfur metabolism_Homo sapiens_hsa00920	0.39114699
90	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.37889264
91	Fat digestion and absorption_Homo sapiens_hsa04975	0.37703033
92	Glutamatergic synapse_Homo sapiens_hsa04724	0.37547813
93	Morphine addiction_Homo sapiens_hsa05032	0.37415517
94	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.36797611
95	Histidine metabolism_Homo sapiens_hsa00340	0.36554951
96	Lysine degradation_Homo sapiens_hsa00310	0.35408773
97	Regulation of autophagy_Homo sapiens_hsa04140	0.34911172
98	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.34449041
99	Oocyte meiosis_Homo sapiens_hsa04114	0.33351110
100	Renin-angiotensin system_Homo sapiens_hsa04614	0.32669582

TVP23CP1

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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