ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	synaptic vesicle docking involved in exocytosis (GO:0016081)	6.76725332
2	synaptic vesicle maturation (GO:0016188)	6.48281055
3	glutamate secretion (GO:0014047)	6.12881787
4	regulation of short-term neuronal synaptic plasticity (GO:0048172)	5.88521838
5	synaptic vesicle exocytosis (GO:0016079)	5.49578954
6	cellular potassium ion homeostasis (GO:0030007)	5.49254917
7	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	5.08624084
8	regulation of synaptic vesicle exocytosis (GO:2000300)	4.92116079
9	sodium ion export (GO:0071436)	4.89830444
10	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	4.88822509
11	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	4.85639075
12	ionotropic glutamate receptor signaling pathway (GO:0035235)	4.78397626
13	cerebellar granule cell differentiation (GO:0021707)	4.61707359
14	vocalization behavior (GO:0071625)	4.52190656
15	regulation of synaptic vesicle transport (GO:1902803)	4.29420611
16	neurotransmitter secretion (GO:0007269)	4.29280316
17	neuronal action potential propagation (GO:0019227)	4.28857119
18	locomotory exploration behavior (GO:0035641)	4.28543277
19	regulation of neuronal synaptic plasticity (GO:0048168)	4.25548133
20	synaptic transmission, glutamatergic (GO:0035249)	4.16471199
21	negative regulation of dendrite morphogenesis (GO:0050774)	4.14204994
22	postsynaptic membrane organization (GO:0001941)	4.09078879
23	L-amino acid import (GO:0043092)	4.08536451
24	exploration behavior (GO:0035640)	4.03158220
25	neuron-neuron synaptic transmission (GO:0007270)	4.00870455
26	glutamate receptor signaling pathway (GO:0007215)	3.92877682
27	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	3.91722476
28	protein localization to synapse (GO:0035418)	3.90383900
29	dendritic spine morphogenesis (GO:0060997)	3.88265762
30	regulation of long-term neuronal synaptic plasticity (GO:0048169)	3.88110036
31	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	3.76204961
32	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	3.75859220
33	amino acid import (GO:0043090)	3.74392755
34	gamma-aminobutyric acid signaling pathway (GO:0007214)	3.73438076
35	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.71111594
36	positive regulation of synapse maturation (GO:0090129)	3.70696986
37	regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	3.69907756
38	neuron cell-cell adhesion (GO:0007158)	3.66927258
39	regulation of glutamate receptor signaling pathway (GO:1900449)	3.66144654
40	neurotransmitter-gated ion channel clustering (GO:0072578)	3.64760152
41	layer formation in cerebral cortex (GO:0021819)	3.62140855
42	regulation of synapse structural plasticity (GO:0051823)	3.61628119
43	presynaptic membrane assembly (GO:0097105)	3.60338910
44	gamma-aminobutyric acid transport (GO:0015812)	3.59156632
45	potassium ion homeostasis (GO:0055075)	3.58047786
46	regulation of excitatory postsynaptic membrane potential (GO:0060079)	3.57576185
47	axon ensheathment in central nervous system (GO:0032291)	3.57245754
48	central nervous system myelination (GO:0022010)	3.57245754
49	presynaptic membrane organization (GO:0097090)	3.53880171
50	auditory behavior (GO:0031223)	3.53485223
51	regulation of neurotransmitter secretion (GO:0046928)	3.52962003
52	axonal fasciculation (GO:0007413)	3.47499016
53	neurotransmitter transport (GO:0006836)	3.47128764
54	positive regulation of dendritic spine morphogenesis (GO:0061003)	3.46310935
55	regulation of synaptic plasticity (GO:0048167)	3.46310361
56	synaptic vesicle endocytosis (GO:0048488)	3.42568225
57	positive regulation of dendritic spine development (GO:0060999)	3.42148218
58	cerebellar Purkinje cell differentiation (GO:0021702)	3.38294955
59	neuronal ion channel clustering (GO:0045161)	3.37362480
60	regulation of dendritic spine morphogenesis (GO:0061001)	3.32104318
61	cell communication by electrical coupling (GO:0010644)	3.32052914
62	neuron recognition (GO:0008038)	3.31828293
63	regulation of neurotransmitter transport (GO:0051588)	3.29731006
64	regulation of postsynaptic membrane potential (GO:0060078)	3.29057583
65	potassium ion import (GO:0010107)	3.27817697
66	neuromuscular process controlling balance (GO:0050885)	3.27704629
67	cellular sodium ion homeostasis (GO:0006883)	3.26808554
68	long-term memory (GO:0007616)	3.23618265
69	positive regulation of membrane potential (GO:0045838)	3.23443457
70	membrane depolarization during action potential (GO:0086010)	3.22647918
71	regulation of voltage-gated calcium channel activity (GO:1901385)	3.21354780
72	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.19146704
73	astrocyte differentiation (GO:0048708)	3.15183157
74	response to auditory stimulus (GO:0010996)	3.09228455
75	regulation of vesicle fusion (GO:0031338)	3.07764546
76	membrane depolarization (GO:0051899)	3.07571811
77	regulation of ARF protein signal transduction (GO:0032012)	3.07111580
78	startle response (GO:0001964)	3.06914045
79	proline transport (GO:0015824)	3.06457521
80	positive regulation of neurotransmitter transport (GO:0051590)	3.05900203
81	regulation of neurotransmitter levels (GO:0001505)	3.04838773
82	regulation of dendritic spine development (GO:0060998)	3.03396494
83	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	3.01043477
84	negative regulation of dendrite development (GO:2000171)	2.98754425
85	regulation of synaptic transmission, glutamatergic (GO:0051966)	2.98317457
86	dendritic spine organization (GO:0097061)	2.98306287
87	transmission of nerve impulse (GO:0019226)	2.97500418
88	neuromuscular synaptic transmission (GO:0007274)	2.92524908
89	regulation of synapse maturation (GO:0090128)	2.92484049
90	cell differentiation in hindbrain (GO:0021533)	2.90547049
91	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.89551017
92	G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)	2.88347624
93	long-term synaptic potentiation (GO:0060291)	2.88326970
94	neuromuscular process (GO:0050905)	2.87874807
95	regulation of synaptic transmission (GO:0050804)	2.87866754
96	cerebellar Purkinje cell layer development (GO:0021680)	2.85502267
97	positive regulation of synapse assembly (GO:0051965)	2.84658865
98	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.83858893
99	adult walking behavior (GO:0007628)	2.83378078
100	synaptic transmission (GO:0007268)	2.82120108

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.45060138
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.23852872
3	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.12993322
4	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.02115319
5	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	3.02003178
6	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.94611845
7	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.83699550
8	RNF2_18974828_ChIP-Seq_MESCs_Mouse	2.63056709
9	EZH2_18974828_ChIP-Seq_MESCs_Mouse	2.63056709
10	REST_21632747_ChIP-Seq_MESCs_Mouse	2.59076688
11	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.58540450
12	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.49999255
13	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	2.48038242
14	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.46580764
15	MTF2_20144788_ChIP-Seq_MESCs_Mouse	2.44138852
16	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	2.44069191
17	RNF2_27304074_Chip-Seq_ESCs_Mouse	2.42923747
18	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.41641283
19	DROSHA_22980978_ChIP-Seq_HELA_Human	2.40620034
20	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	2.39514140
21	RARB_27405468_Chip-Seq_BRAIN_Mouse	2.13774992
22	EZH2_27294783_Chip-Seq_ESCs_Mouse	2.11165780
23	SUZ12_27294783_Chip-Seq_ESCs_Mouse	2.07209933
24	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.98576609
25	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.96501921
26	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.84544580
27	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.76853174
28	AR_21572438_ChIP-Seq_LNCaP_Human	1.66449128
29	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.66125409
30	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.62769306
31	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.61732396
32	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.54921050
33	SMAD4_21799915_ChIP-Seq_A2780_Human	1.54739266
34	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.52087745
35	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.49092511
36	TAF15_26573619_Chip-Seq_HEK293_Human	1.48133870
37	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.46733565
38	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.46692768
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.46206297
40	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.36643292
41	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.36475917
42	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.35352822
43	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.34169794
44	WT1_25993318_ChIP-Seq_PODOCYTE_Human	1.31559313
45	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30813254
46	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.29350849
47	AR_19668381_ChIP-Seq_PC3_Human	1.28058100
48	AHR_22903824_ChIP-Seq_MCF-7_Human	1.26556363
49	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.25567730
50	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23903626
51	RNF2_27304074_Chip-Seq_NSC_Mouse	1.23173215
52	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.22373081
53	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.21484113
54	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.21152213
55	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.20908230
56	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.20052030
57	YAP1_20516196_ChIP-Seq_MESCs_Mouse	1.19834893
58	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.19748997
59	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.18865748
60	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.18448458
61	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.17857321
62	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.17120723
63	STAT3_23295773_ChIP-Seq_U87_Human	1.17009649
64	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.15592751
65	RING1B_27294783_Chip-Seq_NPCs_Mouse	1.15552002
66	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.15395963
67	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.13246751
68	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.12561221
69	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.12450733
70	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.09248671
71	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.08543674
72	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.08381708
73	TCF4_23295773_ChIP-Seq_U87_Human	1.08341640
74	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.08032447
75	P300_19829295_ChIP-Seq_ESCs_Human	1.07941037
76	TP53_16413492_ChIP-PET_HCT116_Human	1.06754671
77	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.06323980
78	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.05039001
79	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.04011318
80	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.03902648
81	TP53_18474530_ChIP-ChIP_U2OS_Human	1.03885844
82	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.03705717
83	ZFP281_27345836_Chip-Seq_ESCs_Mouse	1.03448690
84	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.03448136
85	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03052517
86	KDM2B_26808549_Chip-Seq_K562_Human	1.02670511
87	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.99638974
88	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.98620001
89	SOX9_26525672_Chip-Seq_HEART_Mouse	0.98018480
90	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	0.97936576
91	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.96972652
92	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.96344391
93	AR_25329375_ChIP-Seq_VCAP_Human	0.95482823
94	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.93371004
95	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.93145915
96	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.92786099
97	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.92427229
98	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.92377730
99	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.91960975
100	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.91920289

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004859_abnormal_synaptic_plasticity	6.06927479
2	MP0003880_abnormal_central_pattern	4.37125302
3	MP0004270_analgesia	4.06265763
4	MP0003635_abnormal_synaptic_transmissio	3.68051891
5	MP0009046_muscle_twitch	3.27131554
6	MP0002064_seizures	3.23488372
7	MP0005423_abnormal_somatic_nervous	3.14038675
8	MP0002063_abnormal_learning/memory/cond	2.97357104
9	MP0009745_abnormal_behavioral_response	2.94622472
10	MP0002272_abnormal_nervous_system	2.82214876
11	MP0001486_abnormal_startle_reflex	2.67300899
12	MP0002734_abnormal_mechanical_nocicepti	2.50961079
13	MP0001968_abnormal_touch/_nociception	2.50151660
14	MP0002572_abnormal_emotion/affect_behav	2.48944041
15	MP0002638_abnormal_pupillary_reflex	2.30543926
16	MP0002735_abnormal_chemical_nociception	2.23016912
17	MP0000778_abnormal_nervous_system	2.18654429
18	MP0003787_abnormal_imprinting	2.14328233
19	MP0005257_abnormal_intraocular_pressure	2.13950784
20	MP0009780_abnormal_chondrocyte_physiolo	2.10851233
21	MP0008569_lethality_at_weaning	2.10751634
22	MP0001501_abnormal_sleep_pattern	2.04879976
23	MP0006292_abnormal_olfactory_placode	2.01019625
24	MP0003879_abnormal_hair_cell	1.87845999
25	MP0000569_abnormal_digit_pigmentation	1.73256273
26	MP0002067_abnormal_sensory_capabilities	1.71621534
27	MP0002736_abnormal_nociception_after	1.68063964
28	MP0001970_abnormal_pain_threshold	1.60679908
29	MP0004811_abnormal_neuron_physiology	1.59834437
30	MP0002822_catalepsy	1.58480729
31	MP0001440_abnormal_grooming_behavior	1.54964507
32	MP0002557_abnormal_social/conspecific_i	1.52861847
33	MP0002733_abnormal_thermal_nociception	1.52796086
34	MP0003329_amyloid_beta_deposits	1.52661441
35	MP0000955_abnormal_spinal_cord	1.47931970
36	MP0004885_abnormal_endolymph	1.45944240
37	MP0001984_abnormal_olfaction	1.42557602
38	MP0004924_abnormal_behavior	1.42204090
39	MP0005386_behavior/neurological_phenoty	1.42204090
40	MP0002184_abnormal_innervation	1.39691451
41	MP0002882_abnormal_neuron_morphology	1.39561346
42	MP0003633_abnormal_nervous_system	1.39004793
43	MP0005646_abnormal_pituitary_gland	1.36637715
44	MP0005623_abnormal_meninges_morphology	1.36573019
45	MP0002066_abnormal_motor_capabilities/c	1.33864768
46	MP0010386_abnormal_urinary_bladder	1.26470529
47	MP0006276_abnormal_autonomic_nervous	1.26150894
48	MP0005171_absent_coat_pigmentation	1.25610146
49	MP0005499_abnormal_olfactory_system	1.24724567
50	MP0005394_taste/olfaction_phenotype	1.24724567
51	MP0003122_maternal_imprinting	1.21015867
52	MP0001177_atelectasis	1.17332795
53	MP0000920_abnormal_myelination	1.16723221
54	MP0008877_abnormal_DNA_methylation	1.15282332
55	MP0003631_nervous_system_phenotype	1.12884494
56	MP0001502_abnormal_circadian_rhythm	1.12848581
57	MP0002152_abnormal_brain_morphology	1.12707725
58	MP0000566_synostosis	1.06345173
59	MP0003690_abnormal_glial_cell	1.05966488
60	MP0004742_abnormal_vestibular_system	1.04685530
61	MP0001299_abnormal_eye_distance/	1.03473248
62	MP0003634_abnormal_glial_cell	0.98538639
63	MP0003283_abnormal_digestive_organ	0.95226100
64	MP0001905_abnormal_dopamine_level	0.95205477
65	MP0005409_darkened_coat_color	0.95054498
66	MP0008789_abnormal_olfactory_epithelium	0.89595032
67	MP0001963_abnormal_hearing_physiology	0.88017804
68	MP0003121_genomic_imprinting	0.87516388
69	MP0002938_white_spotting	0.84984991
70	MP0002229_neurodegeneration	0.84571780
71	MP0003632_abnormal_nervous_system	0.81417881
72	MP0001958_emphysema	0.77312675
73	MP0002752_abnormal_somatic_nervous	0.75217465
74	MP0000579_abnormal_nail_morphology	0.75111537
75	MP0003861_abnormal_nervous_system	0.72622482
76	MP0001346_abnormal_lacrimal_gland	0.72579807
77	MP0001188_hyperpigmentation	0.72457874
78	MP0005551_abnormal_eye_electrophysiolog	0.71478659
79	MP0004142_abnormal_muscle_tone	0.71204300
80	MP0001348_abnormal_lacrimal_gland	0.69931814
81	MP0000534_abnormal_ureter_morphology	0.69410662
82	MP0002089_abnormal_postnatal_growth/wei	0.66709980
83	MP0002909_abnormal_adrenal_gland	0.66672195
84	MP0001943_abnormal_respiration	0.63384130
85	MP0001529_abnormal_vocalization	0.61683466
86	MP0010769_abnormal_survival	0.61481231
87	MP0000631_abnormal_neuroendocrine_gland	0.61170073
88	MP0000026_abnormal_inner_ear	0.60982911
89	MP0010770_preweaning_lethality	0.60807813
90	MP0002082_postnatal_lethality	0.60807813
91	MP0001485_abnormal_pinna_reflex	0.59924468
92	MP0003123_paternal_imprinting	0.58981803
93	MP0008874_decreased_physiological_sensi	0.58631709
94	MP0000428_abnormal_craniofacial_morphol	0.58323970
95	MP0002069_abnormal_eating/drinking_beha	0.57641796
96	MP0010768_mortality/aging	0.57057326
97	MP0002234_abnormal_pharynx_morphology	0.51222075
98	MP0005187_abnormal_penis_morphology	0.50513800
99	MP0003137_abnormal_impulse_conducting	0.50088759
100	MP0002177_abnormal_outer_ear	0.49902167

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Focal motor seizures (HP:0011153)	7.42472293
2	Myokymia (HP:0002411)	6.50979096
3	Focal seizures (HP:0007359)	5.85846903
4	Febrile seizures (HP:0002373)	5.54452983
5	Atonic seizures (HP:0010819)	5.30210536
6	Action tremor (HP:0002345)	5.10842602
7	Epileptic encephalopathy (HP:0200134)	4.82895749
8	Progressive cerebellar ataxia (HP:0002073)	3.96456489
9	Diplopia (HP:0000651)	3.93374106
10	Abnormality of binocular vision (HP:0011514)	3.93374106
11	Absence seizures (HP:0002121)	3.84374211
12	Supranuclear gaze palsy (HP:0000605)	3.78728512
13	Generalized tonic-clonic seizures (HP:0002069)	3.73029522
14	Dialeptic seizures (HP:0011146)	3.61700878
15	Truncal ataxia (HP:0002078)	3.35337299
16	Neurofibrillary tangles (HP:0002185)	3.29827000
17	Obstructive sleep apnea (HP:0002870)	3.24416157
18	Limb dystonia (HP:0002451)	3.17949041
19	Ankle clonus (HP:0011448)	3.02418614
20	Torticollis (HP:0000473)	3.01703376
21	Broad-based gait (HP:0002136)	2.94964517
22	Abnormal eating behavior (HP:0100738)	2.91194799
23	Scanning speech (HP:0002168)	2.86060845
24	Dysmetria (HP:0001310)	2.83203663
25	Epileptiform EEG discharges (HP:0011182)	2.82503195
26	Spastic gait (HP:0002064)	2.78368757
27	Hemiparesis (HP:0001269)	2.75772927
28	Impaired vibration sensation in the lower limbs (HP:0002166)	2.73085069
29	Hyperventilation (HP:0002883)	2.67575775
30	Urinary bladder sphincter dysfunction (HP:0002839)	2.66385569
31	Hemiplegia (HP:0002301)	2.64450692
32	Status epilepticus (HP:0002133)	2.58010382
33	Dysdiadochokinesis (HP:0002075)	2.57807802
34	Cerebral inclusion bodies (HP:0100314)	2.51438072
35	Intention tremor (HP:0002080)	2.51398654
36	Focal dystonia (HP:0004373)	2.50310041
37	Poor eye contact (HP:0000817)	2.50215517
38	Tetraplegia (HP:0002445)	2.50210829
39	Hypoplasia of the fovea (HP:0007750)	2.48251919
40	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.48251919
41	Gaze-evoked nystagmus (HP:0000640)	2.47557626
42	EEG with generalized epileptiform discharges (HP:0011198)	2.47284223
43	Urinary urgency (HP:0000012)	2.47140846
44	Postural instability (HP:0002172)	2.44717682
45	Abnormality of the corticospinal tract (HP:0002492)	2.36292202
46	Annular pancreas (HP:0001734)	2.36231463
47	Papilledema (HP:0001085)	2.34958128
48	Impaired smooth pursuit (HP:0007772)	2.34154837
49	Aplasia involving bones of the upper limbs (HP:0009823)	2.34068137
50	Aplasia of the phalanges of the hand (HP:0009802)	2.34068137
51	Aplasia involving bones of the extremities (HP:0009825)	2.34068137
52	Amblyopia (HP:0000646)	2.33690931
53	Mutism (HP:0002300)	2.31510918
54	Visual hallucinations (HP:0002367)	2.28828117
55	Drooling (HP:0002307)	2.26328812
56	Sleep apnea (HP:0010535)	2.24997547
57	Depression (HP:0000716)	2.23894398
58	Akinesia (HP:0002304)	2.22746835
59	Hypsarrhythmia (HP:0002521)	2.19520009
60	Dysmetric saccades (HP:0000641)	2.18444586
61	Lower limb muscle weakness (HP:0007340)	2.13578191
62	Genetic anticipation (HP:0003743)	2.10860058
63	Craniofacial dystonia (HP:0012179)	2.09599590
64	Neonatal short-limb short stature (HP:0008921)	2.07848901
65	Megalencephaly (HP:0001355)	2.05569850
66	Excessive salivation (HP:0003781)	2.03773011
67	Abnormal social behavior (HP:0012433)	2.03721783
68	Impaired social interactions (HP:0000735)	2.03721783
69	Abnormality of ocular smooth pursuit (HP:0000617)	2.02343696
70	Anxiety (HP:0000739)	1.97322883
71	Abnormality of the fovea (HP:0000493)	1.95741826
72	Alacrima (HP:0000522)	1.93584269
73	Incomplete penetrance (HP:0003829)	1.93534998
74	Difficulty running (HP:0009046)	1.89366251
75	Abnormality of the lower motor neuron (HP:0002366)	1.89162566
76	Apathy (HP:0000741)	1.86705308
77	Insomnia (HP:0100785)	1.85632491
78	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	1.84456700
79	Degeneration of the lateral corticospinal tracts (HP:0002314)	1.84456700
80	Impaired vibratory sensation (HP:0002495)	1.81853830
81	Bradykinesia (HP:0002067)	1.80592932
82	Mask-like facies (HP:0000298)	1.80401509
83	Shallow orbits (HP:0000586)	1.80215994
84	Absent speech (HP:0001344)	1.79300051
85	Stereotypic behavior (HP:0000733)	1.79263297
86	Cerebral hypomyelination (HP:0006808)	1.79162379
87	Coronal craniosynostosis (HP:0004440)	1.78348618
88	Optic nerve hypoplasia (HP:0000609)	1.77304521
89	Bronchomalacia (HP:0002780)	1.77177317
90	Limited hip movement (HP:0008800)	1.72877358
91	Mild short stature (HP:0003502)	1.71323778
92	Clonus (HP:0002169)	1.71253139
93	Neuronal loss in central nervous system (HP:0002529)	1.69470994
94	Decreased lacrimation (HP:0000633)	1.68317198
95	Polyphagia (HP:0002591)	1.67170374
96	Heterochromia iridis (HP:0001100)	1.66267069
97	Morphological abnormality of the pyramidal tract (HP:0002062)	1.64451304
98	Fetal akinesia sequence (HP:0001989)	1.63107063
99	Split foot (HP:0001839)	1.59933629
100	Blue irides (HP:0000635)	1.59732065

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA4	5.07705321
2	MARK1	4.72385796
3	NTRK3	3.78839520
4	PAK6	3.62873148
5	MAP3K9	3.07173038
6	CASK	3.04872616
7	NTRK2	2.76460461
8	NTRK1	2.62078768
9	DAPK2	2.57006658
10	MAPK13	2.41559602
11	PRKD3	2.19618088
12	LATS2	2.15214174
13	UHMK1	2.11452585
14	MINK1	1.91956373
15	CAMKK1	1.83505177
16	ARAF	1.60708513
17	PLK2	1.52918092
18	PRKCG	1.48723014
19	CDK5	1.46768860
20	KSR2	1.42707544
21	PTK2B	1.33425752
22	CAMK2B	1.24436793
23	PRKCH	1.24062780
24	PNCK	1.21598248
25	PHKG2	1.20459817
26	PHKG1	1.20459817
27	PINK1	1.18842755
28	MAP3K4	1.17667483
29	KSR1	1.14469966
30	SGK223	1.14189569
31	SGK494	1.14189569
32	TYRO3	1.13440508
33	STK38	1.12366823
34	CAMK1	1.09845062
35	GRK5	1.07665990
36	CDK19	1.07002442
37	CAMK2A	1.06101189
38	PAK3	1.05263854
39	SGK2	1.04373908
40	SIK2	1.04052479
41	DAPK1	1.03379000
42	MARK2	0.99535329
43	CDK15	0.98872821
44	MAP3K13	0.98624712
45	CDK18	0.96050051
46	TNIK	0.94216282
47	RIPK1	0.91867343
48	WNK1	0.89426157
49	CDK11A	0.88524195
50	CDK14	0.83045575
51	EPHB2	0.80922010
52	MAP2K7	0.78283390
53	SGK1	0.78184100
54	SGK3	0.77016318
55	MOS	0.76659119
56	DYRK1A	0.76394749
57	CAMK1G	0.75836223
58	CSNK1G2	0.74211248
59	PKN1	0.73328939
60	CAMKK2	0.70529183
61	LMTK2	0.70175460
62	HIPK2	0.66510188
63	CAMK2G	0.66413252
64	STK11	0.66245740
65	ROCK2	0.65160593
66	PTK2	0.64172678
67	MAPK10	0.63724337
68	RPS6KA3	0.58769349
69	CAMK4	0.58645746
70	ROCK1	0.55922137
71	RAF1	0.55436688
72	MAPK12	0.55180761
73	FGFR2	0.55151900
74	NEK6	0.54922314
75	PRKCZ	0.52422323
76	CCNB1	0.51605543
77	CAMK2D	0.50987230
78	PRKCE	0.49156615
79	LIMK1	0.48299388
80	PDGFRA	0.48246872
81	CSNK1A1L	0.48038810
82	MAP2K4	0.47744159
83	AKT3	0.46791917
84	MAP2K1	0.43165057
85	MAP3K12	0.42233197
86	OXSR1	0.42215683
87	BRAF	0.41861387
88	PDK1	0.41213341
89	CDK3	0.40852881
90	BRSK1	0.38413441
91	PRKG1	0.36395787
92	CSNK1D	0.35283548
93	FYN	0.34669833
94	RET	0.34350424
95	PRKCB	0.32728059
96	MAPK7	0.32495034
97	ALK	0.32227006
98	DDR2	0.32203972
99	GSK3B	0.32036564
100	CAMK1D	0.32004875

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	4.13754643
2	Synaptic vesicle cycle_Homo sapiens_hsa04721	3.01649947
3	Long-term potentiation_Homo sapiens_hsa04720	2.85908445
4	GABAergic synapse_Homo sapiens_hsa04727	2.76470730
5	Glutamatergic synapse_Homo sapiens_hsa04724	2.75822405
6	Circadian entrainment_Homo sapiens_hsa04713	2.71944999
7	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.68668610
8	Morphine addiction_Homo sapiens_hsa05032	2.55864553
9	Amphetamine addiction_Homo sapiens_hsa05031	2.49744636
10	Insulin secretion_Homo sapiens_hsa04911	2.33639393
11	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	2.26845429
12	Dopaminergic synapse_Homo sapiens_hsa04728	2.19370344
13	Gastric acid secretion_Homo sapiens_hsa04971	2.07089610
14	Cocaine addiction_Homo sapiens_hsa05030	1.98163938
15	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.93315517
16	Cholinergic synapse_Homo sapiens_hsa04725	1.90512228
17	Salivary secretion_Homo sapiens_hsa04970	1.79558889
18	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.67867325
19	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.63315817
20	Long-term depression_Homo sapiens_hsa04730	1.59145765
21	Taste transduction_Homo sapiens_hsa04742	1.57567249
22	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.55421845
23	Calcium signaling pathway_Homo sapiens_hsa04020	1.54824281
24	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.53564426
25	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.51131129
26	cAMP signaling pathway_Homo sapiens_hsa04024	1.47125868
27	Gap junction_Homo sapiens_hsa04540	1.46440466
28	Renin secretion_Homo sapiens_hsa04924	1.41696435
29	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.38438202
30	Melanogenesis_Homo sapiens_hsa04916	1.35983401
31	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.35680569
32	Serotonergic synapse_Homo sapiens_hsa04726	1.31448169
33	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.28798745
34	Estrogen signaling pathway_Homo sapiens_hsa04915	1.24129211
35	Axon guidance_Homo sapiens_hsa04360	1.19700577
36	Glioma_Homo sapiens_hsa05214	1.19431393
37	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.15412869
38	GnRH signaling pathway_Homo sapiens_hsa04912	1.14500921
39	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.11861667
40	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	1.10826918
41	Pancreatic secretion_Homo sapiens_hsa04972	1.06071702
42	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.05633750
43	Olfactory transduction_Homo sapiens_hsa04740	1.00711729
44	Oocyte meiosis_Homo sapiens_hsa04114	0.96725067
45	ErbB signaling pathway_Homo sapiens_hsa04012	0.96374033
46	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.95028628
47	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.92588611
48	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.88979236
49	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.88620108
50	Rap1 signaling pathway_Homo sapiens_hsa04015	0.87207047
51	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.85520680
52	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.85334851
53	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.81490686
54	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.79493967
55	Ras signaling pathway_Homo sapiens_hsa04014	0.75453191
56	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.73620538
57	Hippo signaling pathway_Homo sapiens_hsa04390	0.71571921
58	Type II diabetes mellitus_Homo sapiens_hsa04930	0.70469324
59	Cardiac muscle contraction_Homo sapiens_hsa04260	0.69463061
60	Bile secretion_Homo sapiens_hsa04976	0.68153237
61	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.67798838
62	MAPK signaling pathway_Homo sapiens_hsa04010	0.65492286
63	Phototransduction_Homo sapiens_hsa04744	0.64069915
64	Wnt signaling pathway_Homo sapiens_hsa04310	0.62376926
65	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.61337198
66	ECM-receptor interaction_Homo sapiens_hsa04512	0.60512192
67	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.60135011
68	Circadian rhythm_Homo sapiens_hsa04710	0.58909970
69	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.58312547
70	Glucagon signaling pathway_Homo sapiens_hsa04922	0.57363454
71	Prion diseases_Homo sapiens_hsa05020	0.55008271
72	Focal adhesion_Homo sapiens_hsa04510	0.54738459
73	Vibrio cholerae infection_Homo sapiens_hsa05110	0.54472082
74	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.53284661
75	Collecting duct acid secretion_Homo sapiens_hsa04966	0.52681064
76	VEGF signaling pathway_Homo sapiens_hsa04370	0.52304420
77	Choline metabolism in cancer_Homo sapiens_hsa05231	0.50097722
78	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.50068911
79	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.49845447
80	mTOR signaling pathway_Homo sapiens_hsa04150	0.48295875
81	Alcoholism_Homo sapiens_hsa05034	0.47665631
82	Endocytosis_Homo sapiens_hsa04144	0.46394567
83	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.46195501
84	Tight junction_Homo sapiens_hsa04530	0.44735826
85	Protein digestion and absorption_Homo sapiens_hsa04974	0.43632481
86	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.42921365
87	Basal cell carcinoma_Homo sapiens_hsa05217	0.39490631
88	Endometrial cancer_Homo sapiens_hsa05213	0.38772838
89	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.37146118
90	Proteoglycans in cancer_Homo sapiens_hsa05205	0.35657232
91	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.34283864
92	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.33948781
93	Adherens junction_Homo sapiens_hsa04520	0.33052945
94	Renal cell carcinoma_Homo sapiens_hsa05211	0.32199850
95	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.31510434
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31100006
97	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.30643755
98	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.30612651
99	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.29000445
100	Nitrogen metabolism_Homo sapiens_hsa00910	0.26828230

KIAA1549L

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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