ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	pyrimidine nucleobase catabolic process (GO:0006208)	6.81976671
2	nucleobase catabolic process (GO:0046113)	5.36489403
3	auditory behavior (GO:0031223)	5.17498961
4	neuron cell-cell adhesion (GO:0007158)	4.86424202
5	presynaptic membrane assembly (GO:0097105)	4.70661296
6	glycosphingolipid biosynthetic process (GO:0006688)	4.42552652
7	epithelial cilium movement (GO:0003351)	4.31301073
8	neurotransmitter-gated ion channel clustering (GO:0072578)	4.28284299
9	presynaptic membrane organization (GO:0097090)	4.25071136
10	gamma-aminobutyric acid transport (GO:0015812)	4.18773768
11	postsynaptic membrane organization (GO:0001941)	4.05682433
12	establishment of mitochondrion localization (GO:0051654)	4.05029124
13	regulation of female receptivity (GO:0045924)	4.04825882
14	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.97201388
15	somite development (GO:0061053)	3.87939150
16	protein localization to synapse (GO:0035418)	3.86875553
17	positive regulation of mitochondrial fission (GO:0090141)	3.77684462
18	protein polyglutamylation (GO:0018095)	3.71912542
19	peptidyl-arginine omega-N-methylation (GO:0035247)	3.69397600
20	mechanosensory behavior (GO:0007638)	3.66856010
21	female mating behavior (GO:0060180)	3.65898926
22	vocalization behavior (GO:0071625)	3.64934956
23	sialylation (GO:0097503)	3.64571425
24	regulation of synaptic vesicle exocytosis (GO:2000300)	3.56468752
25	nonmotile primary cilium assembly (GO:0035058)	3.51161137
26	peptidyl-arginine N-methylation (GO:0035246)	3.45414100
27	peptidyl-arginine methylation (GO:0018216)	3.45414100
28	protein deneddylation (GO:0000338)	3.44901733
29	response to auditory stimulus (GO:0010996)	3.38268085
30	cullin deneddylation (GO:0010388)	3.32492532
31	positive regulation of dendritic spine morphogenesis (GO:0061003)	3.30037588
32	response to pheromone (GO:0019236)	3.28972371
33	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	3.25718977
34	fatty acid elongation (GO:0030497)	3.24394744
35	synapse assembly (GO:0007416)	3.16351014
36	regulation of synaptic vesicle transport (GO:1902803)	3.15521913
37	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	3.13048118
38	negative regulation of oligodendrocyte differentiation (GO:0048715)	3.12944660
39	regulation of mitochondrial translation (GO:0070129)	3.11196034
40	dicarboxylic acid catabolic process (GO:0043649)	3.10051004
41	cilium movement (GO:0003341)	3.07882631
42	neurotransmitter biosynthetic process (GO:0042136)	3.04866241
43	layer formation in cerebral cortex (GO:0021819)	3.02807664
44	mannosylation (GO:0097502)	3.01557889
45	righting reflex (GO:0060013)	2.99817908
46	regulation of dendritic spine morphogenesis (GO:0061001)	2.96819171
47	negative regulation of neurotransmitter transport (GO:0051589)	2.96729161
48	negative regulation of neurotransmitter secretion (GO:0046929)	2.95747576
49	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.93813233
50	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.91261678
51	COPII vesicle coating (GO:0048208)	2.91212897
52	glycolipid biosynthetic process (GO:0009247)	2.86075888
53	establishment of melanosome localization (GO:0032401)	2.85016430
54	chaperone-mediated protein transport (GO:0072321)	2.83895453
55	lipopolysaccharide biosynthetic process (GO:0009103)	2.83757555
56	melanosome transport (GO:0032402)	2.82615572
57	establishment of pigment granule localization (GO:0051905)	2.76608574
58	pigment granule transport (GO:0051904)	2.73934670
59	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.73825420
60	hippocampus development (GO:0021766)	2.72543931
61	protein insertion into membrane (GO:0051205)	2.70522671
62	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.68882091
63	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.68882091
64	intra-Golgi vesicle-mediated transport (GO:0006891)	2.68081590
65	metallo-sulfur cluster assembly (GO:0031163)	2.67954580
66	iron-sulfur cluster assembly (GO:0016226)	2.67954580
67	COPI coating of Golgi vesicle (GO:0048205)	2.67935787
68	Golgi transport vesicle coating (GO:0048200)	2.67935787
69	protein localization to peroxisome (GO:0072662)	2.67379046
70	protein targeting to peroxisome (GO:0006625)	2.67379046
71	establishment of protein localization to peroxisome (GO:0072663)	2.67379046
72	protein localization to cilium (GO:0061512)	2.66230340
73	motile cilium assembly (GO:0044458)	2.65764903
74	anterograde synaptic vesicle transport (GO:0048490)	2.65725862
75	synaptic vesicle maturation (GO:0016188)	2.62719683
76	nerve growth factor signaling pathway (GO:0038180)	2.62558704
77	neurofilament cytoskeleton organization (GO:0060052)	2.62466915
78	rRNA methylation (GO:0031167)	2.61722051
79	melanosome localization (GO:0032400)	2.61489674
80	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.60342330
81	axoneme assembly (GO:0035082)	2.59877990
82	succinate metabolic process (GO:0006105)	2.59745754
83	rRNA modification (GO:0000154)	2.59260054
84	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.57763866
85	histone arginine methylation (GO:0034969)	2.55481350
86	pigment granule localization (GO:0051875)	2.54695516
87	regulation of respiratory system process (GO:0044065)	2.53639005
88	DNA integration (GO:0015074)	2.52109344
89	DNA double-strand break processing (GO:0000729)	2.50960967
90	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.48307894
91	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.47813796
92	substrate-independent telencephalic tangential migration (GO:0021826)	2.47813796
93	endoplasmic reticulum organization (GO:0007029)	2.45643039
94	nucleoside diphosphate phosphorylation (GO:0006165)	2.45247618
95	C4-dicarboxylate transport (GO:0015740)	2.45109263
96	GPI anchor metabolic process (GO:0006505)	2.44459462
97	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)	2.43308921
98	cholesterol biosynthetic process (GO:0006695)	2.43212786
99	negative regulation of DNA recombination (GO:0045910)	2.42763462
100	C-terminal protein amino acid modification (GO:0018410)	2.42052291

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	IGF1R_20145208_ChIP-Seq_DFB_Human	4.21587064
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.83974514
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.18327951
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.15058972
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.07948511
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.06418600
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.79438952
8	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.70457979
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.66056296
10	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.62765710
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.41562219
12	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.35256842
13	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.34479543
14	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.24115782
15	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.08222449
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.99927802
17	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.99422932
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.96747816
19	EWS_26573619_Chip-Seq_HEK293_Human	1.92110919
20	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.88426491
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.84745920
22	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.84032907
23	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.83587356
24	RNF2_27304074_Chip-Seq_NSC_Mouse	1.80080951
25	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.70719783
26	REST_21632747_ChIP-Seq_MESCs_Mouse	1.66078262
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.62890508
28	FUS_26573619_Chip-Seq_HEK293_Human	1.61852534
29	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.60333249
30	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.57292520
31	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.54061090
32	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.50732124
33	P300_19829295_ChIP-Seq_ESCs_Human	1.48586570
34	VDR_23849224_ChIP-Seq_CD4+_Human	1.48273311
35	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.45247204
36	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.44289615
37	GABP_19822575_ChIP-Seq_HepG2_Human	1.43654716
38	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.43068944
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.40963848
40	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.38587828
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.38258258
42	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.37709453
43	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.37457400
44	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.34806507
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.33489478
46	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.31604335
47	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.30191545
48	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.29162401
49	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.28511145
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.27077923
51	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.26403103
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26332553
53	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.23923884
54	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.23022396
55	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.21147560
56	STAT3_23295773_ChIP-Seq_U87_Human	1.20280155
57	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.19653950
58	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.16222062
59	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.15040152
60	AR_25329375_ChIP-Seq_VCAP_Human	1.12674668
61	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12369915
62	MYC_18940864_ChIP-ChIP_HL60_Human	1.10974802
63	ER_23166858_ChIP-Seq_MCF-7_Human	1.10341422
64	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.09122073
65	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.08165315
66	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.07931335
67	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.07814483
68	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.06357695
69	TCF4_23295773_ChIP-Seq_U87_Human	1.06311395
70	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.06016896
71	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.04791289
72	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.04673445
73	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.03017677
74	CIITA_25753668_ChIP-Seq_RAJI_Human	1.02076297
75	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.01923400
76	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.01609049
77	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.00643015
78	JUN_21703547_ChIP-Seq_K562_Human	1.00052844
79	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.98780536
80	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.98316866
81	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.97110521
82	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.96551081
83	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.95907729
84	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	0.95889784
85	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.95713233
86	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.95433576
87	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.95236991
88	FOXP3_21729870_ChIP-Seq_TREG_Human	0.95095766
89	HTT_18923047_ChIP-ChIP_STHdh_Human	0.95019313
90	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.94786913
91	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.94028693
92	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.93980325
93	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.93971256
94	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.93828904
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.91174960
96	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.91052918
97	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.90943244
98	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.90684149
99	RUNX2_22187159_ChIP-Seq_PCA_Human	0.90440873
100	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.90420549

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	4.35831753
2	MP0002102_abnormal_ear_morphology	3.94677372
3	MP0005646_abnormal_pituitary_gland	3.57619187
4	MP0009780_abnormal_chondrocyte_physiolo	3.19947718
5	MP0006276_abnormal_autonomic_nervous	3.07103819
6	MP0004859_abnormal_synaptic_plasticity	3.04353607
7	MP0003122_maternal_imprinting	2.95607133
8	MP0003880_abnormal_central_pattern	2.86600328
9	MP0004270_analgesia	2.71143826
10	MP0005499_abnormal_olfactory_system	2.50215181
11	MP0005394_taste/olfaction_phenotype	2.50215181
12	MP0001984_abnormal_olfaction	2.38873244
13	MP0008789_abnormal_olfactory_epithelium	2.37787291
14	MP0004885_abnormal_endolymph	2.23324751
15	MP0002822_catalepsy	2.20231792
16	MP0005423_abnormal_somatic_nervous	2.07626079
17	MP0000778_abnormal_nervous_system	1.83196106
18	MP0003635_abnormal_synaptic_transmissio	1.83070934
19	MP0003879_abnormal_hair_cell	1.79252259
20	MP0005645_abnormal_hypothalamus_physiol	1.75365256
21	MP0000013_abnormal_adipose_tissue	1.71969006
22	MP0002638_abnormal_pupillary_reflex	1.64966228
23	MP0002063_abnormal_learning/memory/cond	1.60329729
24	MP0009046_muscle_twitch	1.59871670
25	MP0002272_abnormal_nervous_system	1.57114166
26	MP0002735_abnormal_chemical_nociception	1.55885589
27	MP0003938_abnormal_ear_development	1.55536017
28	MP0004142_abnormal_muscle_tone	1.54098290
29	MP0001968_abnormal_touch/_nociception	1.53443440
30	MP0002837_dystrophic_cardiac_calcinosis	1.50198564
31	MP0002876_abnormal_thyroid_physiology	1.48287005
32	MP0005248_abnormal_Harderian_gland	1.47726962
33	MP0003121_genomic_imprinting	1.47126639
34	MP0002557_abnormal_social/conspecific_i	1.45844783
35	MP0001486_abnormal_startle_reflex	1.45632025
36	MP0000631_abnormal_neuroendocrine_gland	1.40040900
37	MP0002572_abnormal_emotion/affect_behav	1.38307938
38	MP0005253_abnormal_eye_physiology	1.35699509
39	MP0005171_absent_coat_pigmentation	1.34638158
40	MP0002733_abnormal_thermal_nociception	1.33397601
41	MP0002734_abnormal_mechanical_nocicepti	1.32845553
42	MP0001188_hyperpigmentation	1.31513374
43	MP0003136_yellow_coat_color	1.30392259
44	MP0000049_abnormal_middle_ear	1.22747899
45	MP0004811_abnormal_neuron_physiology	1.22143091
46	MP0009745_abnormal_behavioral_response	1.21827076
47	MP0003119_abnormal_digestive_system	1.21756174
48	MP0001986_abnormal_taste_sensitivity	1.20736175
49	MP0000372_irregular_coat_pigmentation	1.20340712
50	MP0003646_muscle_fatigue	1.20195056
51	MP0002234_abnormal_pharynx_morphology	1.19210313
52	MP0002282_abnormal_trachea_morphology	1.15215664
53	MP0005551_abnormal_eye_electrophysiolog	1.14942101
54	MP0001970_abnormal_pain_threshold	1.14310649
55	MP0000569_abnormal_digit_pigmentation	1.13321147
56	MP0003137_abnormal_impulse_conducting	1.11256899
57	MP0005386_behavior/neurological_phenoty	1.10647915
58	MP0004924_abnormal_behavior	1.10647915
59	MP0002064_seizures	1.09798826
60	MP0000026_abnormal_inner_ear	1.08216015
61	MP0001905_abnormal_dopamine_level	1.08031469
62	MP0002184_abnormal_innervation	1.05734996
63	MP0001963_abnormal_hearing_physiology	1.03954021
64	MP0001293_anophthalmia	1.03508895
65	MP0000955_abnormal_spinal_cord	1.01642674
66	MP0001299_abnormal_eye_distance/	0.99334075
67	MP0002067_abnormal_sensory_capabilities	0.98222961
68	MP0002736_abnormal_nociception_after	0.97228593
69	MP0002751_abnormal_autonomic_nervous	0.96302581
70	MP0004133_heterotaxia	0.95443921
71	MP0002882_abnormal_neuron_morphology	0.94189628
72	MP0002909_abnormal_adrenal_gland	0.92638700
73	MP0002752_abnormal_somatic_nervous	0.91917863
74	MP0006072_abnormal_retinal_apoptosis	0.87004761
75	MP0002653_abnormal_ependyma_morphology	0.86271651
76	MP0006292_abnormal_olfactory_placode	0.85212545
77	MP0008995_early_reproductive_senescence	0.85078301
78	MP0002177_abnormal_outer_ear	0.82156251
79	MP0002066_abnormal_motor_capabilities/c	0.79697701
80	MP0005391_vision/eye_phenotype	0.78837608
81	MP0004197_abnormal_fetal_growth/weight/	0.78178442
82	MP0001502_abnormal_circadian_rhythm	0.78082224
83	MP0002152_abnormal_brain_morphology	0.77633695
84	MP0001270_distended_abdomen	0.77589847
85	MP0001764_abnormal_homeostasis	0.75217240
86	MP0005187_abnormal_penis_morphology	0.74848341
87	MP0002229_neurodegeneration	0.74617866
88	MP0002069_abnormal_eating/drinking_beha	0.74441677
89	MP0002233_abnormal_nose_morphology	0.73965335
90	MP0003937_abnormal_limbs/digits/tail_de	0.73439844
91	MP0003011_delayed_dark_adaptation	0.71885118
92	MP0009384_cardiac_valve_regurgitation	0.71599655
93	MP0004085_abnormal_heartbeat	0.71474120
94	MP0006035_abnormal_mitochondrial_morpho	0.70901597
95	MP0008058_abnormal_DNA_repair	0.70649437
96	MP0002332_abnormal_exercise_endurance	0.70436825
97	MP0003861_abnormal_nervous_system	0.70190505
98	MP0004130_abnormal_muscle_cell	0.70049747
99	MP0008569_lethality_at_weaning	0.67828507
100	MP0001324_abnormal_eye_pigmentation	0.67531027

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Thyroid-stimulating hormone excess (HP:0002925)	5.00877314
2	Cortical dysplasia (HP:0002539)	4.34640618
3	Renal cortical cysts (HP:0000803)	3.48807090
4	Absent/shortened dynein arms (HP:0200106)	3.45658446
5	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.45658446
6	Gait imbalance (HP:0002141)	3.35501907
7	Hyperglycinemia (HP:0002154)	3.35315539
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.30703718
9	Nephrogenic diabetes insipidus (HP:0009806)	3.24174959
10	Medial flaring of the eyebrow (HP:0010747)	3.21211211
11	Congenital primary aphakia (HP:0007707)	3.19063589
12	Genital tract atresia (HP:0001827)	2.91333093
13	Abnormality of the lower motor neuron (HP:0002366)	2.89985892
14	Increased serum pyruvate (HP:0003542)	2.88350649
15	Vaginal atresia (HP:0000148)	2.79629475
16	Lissencephaly (HP:0001339)	2.79008556
17	Polyphagia (HP:0002591)	2.77869897
18	Morphological abnormality of the middle ear (HP:0008609)	2.73123474
19	Abnormality of glycolysis (HP:0004366)	2.72252721
20	Epiphyseal stippling (HP:0010655)	2.63480949
21	Hypsarrhythmia (HP:0002521)	2.58536810
22	Abnormal respiratory epithelium morphology (HP:0012253)	2.56878017
23	Abnormal respiratory motile cilium morphology (HP:0005938)	2.56878017
24	Spastic gait (HP:0002064)	2.54990962
25	Hemiparesis (HP:0001269)	2.52602931
26	Absent speech (HP:0001344)	2.51748072
27	Drooling (HP:0002307)	2.50768332
28	Hyperalaninemia (HP:0003348)	2.49050140
29	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.49050140
30	Abnormality of alanine metabolism (HP:0010916)	2.49050140
31	Epileptiform EEG discharges (HP:0011182)	2.47569229
32	Brushfield spots (HP:0001088)	2.47315426
33	Specific learning disability (HP:0001328)	2.46806011
34	EEG with generalized epileptiform discharges (HP:0011198)	2.45636110
35	Nephronophthisis (HP:0000090)	2.44117548
36	Tubulointerstitial nephritis (HP:0001970)	2.41241215
37	Abnormal protein glycosylation (HP:0012346)	2.40936289
38	Abnormal glycosylation (HP:0012345)	2.40936289
39	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.40936289
40	Abnormal protein N-linked glycosylation (HP:0012347)	2.40936289
41	Short tibia (HP:0005736)	2.40404888
42	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.36289320
43	Epileptic encephalopathy (HP:0200134)	2.34580098
44	Progressive cerebellar ataxia (HP:0002073)	2.32517508
45	Focal motor seizures (HP:0011153)	2.31968971
46	Pachygyria (HP:0001302)	2.31159501
47	Abnormal ciliary motility (HP:0012262)	2.30949521
48	Spastic tetraplegia (HP:0002510)	2.30656677
49	Failure to thrive in infancy (HP:0001531)	2.29702214
50	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.28690548
51	Hypoplasia of the brainstem (HP:0002365)	2.28690548
52	Large for gestational age (HP:0001520)	2.28067811
53	Methylmalonic acidemia (HP:0002912)	2.23376823
54	Upper limb muscle weakness (HP:0003484)	2.23209100
55	Excessive salivation (HP:0003781)	2.23140446
56	Urinary urgency (HP:0000012)	2.23085156
57	Esotropia (HP:0000565)	2.22571506
58	Abnormality of the renal cortex (HP:0011035)	2.20410687
59	Abnormality of the renal medulla (HP:0100957)	2.15106598
60	Abnormality of the corticospinal tract (HP:0002492)	2.13787280
61	Lower limb muscle weakness (HP:0007340)	2.12976073
62	Bilateral microphthalmos (HP:0007633)	2.09612318
63	Hyperthyroidism (HP:0000836)	2.07789659
64	Muscular hypotonia of the trunk (HP:0008936)	2.07649026
65	Broad foot (HP:0001769)	2.04700366
66	Cerebral hypomyelination (HP:0006808)	2.04292312
67	Abnormality of glycine metabolism (HP:0010895)	2.00596232
68	Abnormality of serine family amino acid metabolism (HP:0010894)	2.00596232
69	Poor coordination (HP:0002370)	2.00307385
70	Pheochromocytoma (HP:0002666)	1.99672178
71	Congenital stationary night blindness (HP:0007642)	1.96356450
72	Progressive microcephaly (HP:0000253)	1.95055016
73	Humeroradial synostosis (HP:0003041)	1.94840707
74	Synostosis involving the elbow (HP:0003938)	1.94840707
75	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.94280288
76	Ankle clonus (HP:0011448)	1.91993247
77	Pendular nystagmus (HP:0012043)	1.91498761
78	Postnatal microcephaly (HP:0005484)	1.91330626
79	Neuroendocrine neoplasm (HP:0100634)	1.86947855
80	Acute necrotizing encephalopathy (HP:0006965)	1.85823682
81	Pancreatic cysts (HP:0001737)	1.84580253
82	Type I transferrin isoform profile (HP:0003642)	1.83399769
83	Optic disc pallor (HP:0000543)	1.83059339
84	Abnormal eating behavior (HP:0100738)	1.82735556
85	Molar tooth sign on MRI (HP:0002419)	1.79510751
86	Abnormality of midbrain morphology (HP:0002418)	1.79510751
87	Myokymia (HP:0002411)	1.77760269
88	Abnormality of the anterior horn cell (HP:0006802)	1.76199670
89	Degeneration of anterior horn cells (HP:0002398)	1.76199670
90	Abnormal respiratory motile cilium physiology (HP:0012261)	1.76105501
91	Rimmed vacuoles (HP:0003805)	1.74763864
92	Abnormal mitochondria in muscle tissue (HP:0008316)	1.74191183
93	Abnormal epiphyseal ossification (HP:0010656)	1.74164044
94	Microvesicular hepatic steatosis (HP:0001414)	1.73969732
95	Abnormal gallbladder physiology (HP:0012438)	1.72320980
96	Cholecystitis (HP:0001082)	1.72320980
97	Decreased testicular size (HP:0008734)	1.72191219
98	Methylmalonic aciduria (HP:0012120)	1.71861050
99	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.71761911
100	Heterochromia iridis (HP:0001100)	1.70556238

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BCR	4.74204385
2	MARK1	4.17331062
3	MAP4K2	3.38541258
4	MAP2K7	3.38000222
5	MAP3K4	3.27914549
6	CASK	3.22853567
7	TRIM28	2.93230977
8	CSNK1G3	2.91366778
9	CSNK1G2	2.84487574
10	CSNK1A1L	2.77599332
11	SRPK1	2.59389722
12	CSNK1G1	2.16424779
13	EPHA3	2.02557296
14	MAPK13	1.98212434
15	ERBB3	1.95370042
16	SIK3	1.86677855
17	PDK2	1.86604352
18	WNK3	1.81455684
19	SIK2	1.74095250
20	BCKDK	1.70816781
21	DYRK2	1.66009269
22	PIM2	1.56467129
23	PLK2	1.54391371
24	GRK7	1.47184469
25	RPS6KA4	1.39948126
26	PINK1	1.29912281
27	MAP2K4	1.29122127
28	DYRK3	1.18314964
29	EPHA4	1.11939703
30	STK16	1.07094862
31	DYRK1B	1.03061573
32	PRKCE	0.97563136
33	MINK1	0.92512727
34	KSR1	0.92023299
35	NME1	0.90112459
36	AKT3	0.87104038
37	MAP3K6	0.86842673
38	EIF2AK1	0.86493685
39	LIMK1	0.85089620
40	PAK3	0.82834311
41	GRK1	0.80256671
42	TESK1	0.80126280
43	FRK	0.79394013
44	FER	0.78618277
45	PAK6	0.75562250
46	CDK14	0.74656699
47	BMPR1B	0.73240240
48	CDK5	0.73066306
49	CAMKK2	0.71874441
50	TSSK6	0.68631942
51	CDK6	0.68613839
52	UHMK1	0.65377956
53	CAMK2A	0.65178507
54	MAP3K5	0.64958432
55	CCNB1	0.64527750
56	CDC7	0.62649073
57	STK38L	0.55839662
58	NEK1	0.54440208
59	TIE1	0.54282167
60	DAPK1	0.53825945
61	CDK18	0.53466329
62	CAMK2B	0.53402193
63	PLK4	0.53235105
64	STK39	0.50902436
65	PRKAA1	0.50776084
66	AKT2	0.50388501
67	PRKCG	0.50357790
68	IRAK1	0.50316530
69	NTRK2	0.50240331
70	ADRBK1	0.48708917
71	CSNK1A1	0.47857821
72	OBSCN	0.46630858
73	PRKACA	0.46014328
74	ERBB2	0.43961194
75	EIF2AK3	0.43694791
76	FLT3	0.40880249
77	OXSR1	0.39616291
78	CDK15	0.38805966
79	CDK19	0.37444731
80	CDK11A	0.37057597
81	PHKG2	0.37023667
82	PHKG1	0.37023667
83	RPS6KA5	0.36799445
84	DAPK2	0.36498336
85	PRKACG	0.35783150
86	MKNK1	0.35658911
87	CSNK1D	0.34792197
88	AURKA	0.34446156
89	GRK5	0.31777150
90	INSRR	0.31270254
91	WNK4	0.31193768
92	ATR	0.30759351
93	CDK9	0.30024569
94	PRKCZ	0.29593891
95	PRKACB	0.29524017
96	ABL1	0.29289385
97	MAPK9	0.28958579
98	KDR	0.27973168
99	PRKG1	0.27840609
100	CAMK4	0.25936833

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	4.15136750
2	Nicotine addiction_Homo sapiens_hsa05033	3.24970915
3	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.83935159
4	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.68665091
5	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.61477441
6	Protein export_Homo sapiens_hsa03060	2.45570287
7	GABAergic synapse_Homo sapiens_hsa04727	2.39377731
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.33777810
9	Butanoate metabolism_Homo sapiens_hsa00650	2.23927805
10	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.97154768
11	Steroid biosynthesis_Homo sapiens_hsa00100	1.97148686
12	Taste transduction_Homo sapiens_hsa04742	1.93569393
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.88329267
14	Parkinsons disease_Homo sapiens_hsa05012	1.85433882
15	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.78754941
16	Cocaine addiction_Homo sapiens_hsa05030	1.63277166
17	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.61813061
18	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.61554522
19	Peroxisome_Homo sapiens_hsa04146	1.60253027
20	Morphine addiction_Homo sapiens_hsa05032	1.55415822
21	Regulation of autophagy_Homo sapiens_hsa04140	1.52551839
22	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.50203469
23	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.44507188
24	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.38434838
25	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.35959029
26	Fatty acid elongation_Homo sapiens_hsa00062	1.31735650
27	Circadian entrainment_Homo sapiens_hsa04713	1.29251753
28	Phototransduction_Homo sapiens_hsa04744	1.29056778
29	Dopaminergic synapse_Homo sapiens_hsa04728	1.23041681
30	Glutamatergic synapse_Homo sapiens_hsa04724	1.21165819
31	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.17496620
32	Huntingtons disease_Homo sapiens_hsa05016	1.17215505
33	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.16419058
34	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.14971268
35	Vibrio cholerae infection_Homo sapiens_hsa05110	1.09069968
36	Proteasome_Homo sapiens_hsa03050	1.07809111
37	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.06059656
38	RNA degradation_Homo sapiens_hsa03018	1.04178851
39	Sulfur metabolism_Homo sapiens_hsa00920	1.01904164
40	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.00873220
41	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.99137474
42	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.97900684
43	Propanoate metabolism_Homo sapiens_hsa00640	0.97742586
44	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.96111126
45	Selenocompound metabolism_Homo sapiens_hsa00450	0.94454333
46	Olfactory transduction_Homo sapiens_hsa04740	0.93650994
47	Alzheimers disease_Homo sapiens_hsa05010	0.93505431
48	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.93492517
49	Fat digestion and absorption_Homo sapiens_hsa04975	0.89925817
50	Basal transcription factors_Homo sapiens_hsa03022	0.86929182
51	Amphetamine addiction_Homo sapiens_hsa05031	0.86392438
52	Long-term depression_Homo sapiens_hsa04730	0.85513613
53	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.84212838
54	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.84155525
55	Insulin secretion_Homo sapiens_hsa04911	0.84107269
56	Fatty acid metabolism_Homo sapiens_hsa01212	0.83102873
57	Ether lipid metabolism_Homo sapiens_hsa00565	0.81096569
58	Oocyte meiosis_Homo sapiens_hsa04114	0.80872458
59	Carbon metabolism_Homo sapiens_hsa01200	0.80656337
60	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.80505332
61	Cardiac muscle contraction_Homo sapiens_hsa04260	0.76738268
62	Serotonergic synapse_Homo sapiens_hsa04726	0.70359582
63	Axon guidance_Homo sapiens_hsa04360	0.69804077
64	Sulfur relay system_Homo sapiens_hsa04122	0.68664624
65	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.67971496
66	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.66416640
67	RNA polymerase_Homo sapiens_hsa03020	0.65717851
68	Collecting duct acid secretion_Homo sapiens_hsa04966	0.65552121
69	beta-Alanine metabolism_Homo sapiens_hsa00410	0.64796996
70	Fanconi anemia pathway_Homo sapiens_hsa03460	0.64257733
71	Spliceosome_Homo sapiens_hsa03040	0.62856893
72	Metabolic pathways_Homo sapiens_hsa01100	0.61368788
73	Pyruvate metabolism_Homo sapiens_hsa00620	0.58971850
74	Linoleic acid metabolism_Homo sapiens_hsa00591	0.57647451
75	Gap junction_Homo sapiens_hsa04540	0.56425474
76	Cholinergic synapse_Homo sapiens_hsa04725	0.56321982
77	Long-term potentiation_Homo sapiens_hsa04720	0.55343585
78	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.53913163
79	Glycerolipid metabolism_Homo sapiens_hsa00561	0.50321836
80	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.47824769
81	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.47485377
82	mRNA surveillance pathway_Homo sapiens_hsa03015	0.45985054
83	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.43508332
84	Alcoholism_Homo sapiens_hsa05034	0.42858051
85	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.38753724
86	Arginine and proline metabolism_Homo sapiens_hsa00330	0.37868261
87	Phenylalanine metabolism_Homo sapiens_hsa00360	0.36598665
88	Tyrosine metabolism_Homo sapiens_hsa00350	0.36574570
89	RNA transport_Homo sapiens_hsa03013	0.36534296
90	Circadian rhythm_Homo sapiens_hsa04710	0.34845284
91	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.34798681
92	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.34408712
93	Arginine biosynthesis_Homo sapiens_hsa00220	0.34081421
94	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.33871224
95	AMPK signaling pathway_Homo sapiens_hsa04152	0.32698846
96	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.32255172
97	Pyrimidine metabolism_Homo sapiens_hsa00240	0.31992001
98	Nitrogen metabolism_Homo sapiens_hsa00910	0.31123511
99	Ras signaling pathway_Homo sapiens_hsa04014	0.27499336
100	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.26442948

VN1R108P

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)

Most similar genes based on co-expression Upload to Enrichr

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