ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	centriole replication (GO:0007099)	4.25829479
2	locomotory exploration behavior (GO:0035641)	4.24027368
3	behavioral response to ethanol (GO:0048149)	3.80356240
4	chaperone-mediated protein transport (GO:0072321)	3.72336853
5	exploration behavior (GO:0035640)	3.72012912
6	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.65795321
7	presynaptic membrane assembly (GO:0097105)	3.57962739
8	presynaptic membrane organization (GO:0097090)	3.51292172
9	behavioral response to cocaine (GO:0048148)	3.50570733
10	pyrimidine nucleobase catabolic process (GO:0006208)	3.46259309
11	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.38226881
12	somite development (GO:0061053)	3.37623571
13	regulation of posttranscriptional gene silencing (GO:0060147)	3.31352642
14	regulation of gene silencing by miRNA (GO:0060964)	3.31352642
15	regulation of gene silencing by RNA (GO:0060966)	3.31352642
16	regulation of DNA endoreduplication (GO:0032875)	3.30864640
17	gamma-aminobutyric acid transport (GO:0015812)	3.29361574
18	behavioral response to nicotine (GO:0035095)	3.27984159
19	L-serine metabolic process (GO:0006563)	3.27806537
20	parturition (GO:0007567)	3.27336648
21	postsynaptic membrane organization (GO:0001941)	3.21376802
22	negative regulation of catenin import into nucleus (GO:0035414)	3.18675555
23	cell proliferation in forebrain (GO:0021846)	3.09278184
24	transmission of nerve impulse (GO:0019226)	3.08867576
25	adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)	3.08811516
26	regulation of glucocorticoid secretion (GO:2000849)	3.06629169
27	single strand break repair (GO:0000012)	3.03887025
28	synaptic transmission, dopaminergic (GO:0001963)	3.01704836
29	histone arginine methylation (GO:0034969)	2.98296304
30	lateral sprouting from an epithelium (GO:0060601)	2.89418813
31	regulation of female receptivity (GO:0045924)	2.87860372
32	rRNA modification (GO:0000154)	2.87407388
33	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.86240349
34	cell fate commitment involved in formation of primary germ layer (GO:0060795)	2.84217977
35	rRNA methylation (GO:0031167)	2.83087714
36	chromatin remodeling at centromere (GO:0031055)	2.82977234
37	spinal cord development (GO:0021510)	2.82593542
38	alanine transport (GO:0032328)	2.81838000
39	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.81662202
40	regulation of mitotic spindle checkpoint (GO:1903504)	2.81662202
41	regulation of vesicle fusion (GO:0031338)	2.79626403
42	basic amino acid transport (GO:0015802)	2.78749789
43	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.77945791
44	dendritic spine morphogenesis (GO:0060997)	2.77782872
45	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	2.77102058
46	regulation of helicase activity (GO:0051095)	2.75797892
47	neurofilament cytoskeleton organization (GO:0060052)	2.74261319
48	hypothalamus development (GO:0021854)	2.74109107
49	positive regulation of mitochondrial fission (GO:0090141)	2.72976996
50	fear response (GO:0042596)	2.72016222
51	regulation of synaptic vesicle transport (GO:1902803)	2.70669559
52	nucleobase catabolic process (GO:0046113)	2.68803958
53	centriole assembly (GO:0098534)	2.65118619
54	CENP-A containing nucleosome assembly (GO:0034080)	2.64945640
55	ribosomal small subunit biogenesis (GO:0042274)	2.63861357
56	negative regulation of cell fate commitment (GO:0010454)	2.63352920
57	regulation of voltage-gated calcium channel activity (GO:1901385)	2.60359894
58	negative regulation of appetite (GO:0032099)	2.58819101
59	negative regulation of response to food (GO:0032096)	2.58819101
60	regulation of synaptic vesicle exocytosis (GO:2000300)	2.58063781
61	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.57716467
62	histone exchange (GO:0043486)	2.56989155
63	positive regulation of histone H3-K4 methylation (GO:0051571)	2.53747320
64	pre-miRNA processing (GO:0031054)	2.52559357
65	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.51630440
66	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.50625110
67	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.50297024
68	ATP synthesis coupled proton transport (GO:0015986)	2.50297024
69	retina layer formation (GO:0010842)	2.49235032
70	lysine catabolic process (GO:0006554)	2.48872742
71	lysine metabolic process (GO:0006553)	2.48872742
72	appendage development (GO:0048736)	2.48331503
73	limb development (GO:0060173)	2.48331503
74	head development (GO:0060322)	2.46692563
75	peptidyl-tyrosine autophosphorylation (GO:0038083)	2.46383188
76	DNA damage response, detection of DNA damage (GO:0042769)	2.45946286
77	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	2.45860851
78	forebrain neuron differentiation (GO:0021879)	2.45192040
79	Sertoli cell development (GO:0060009)	2.44779412
80	establishment of integrated proviral latency (GO:0075713)	2.44435442
81	cardiac left ventricle morphogenesis (GO:0003214)	2.42924842
82	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	2.42886953
83	negative regulation of glial cell differentiation (GO:0045686)	2.42380628
84	L-amino acid import (GO:0043092)	2.41963957
85	vocalization behavior (GO:0071625)	2.41783228
86	cerebellar Purkinje cell differentiation (GO:0021702)	2.41342976
87	female mating behavior (GO:0060180)	2.39573515
88	negative regulation of catecholamine secretion (GO:0033604)	2.39570823
89	regulation of catenin import into nucleus (GO:0035412)	2.39231349
90	short-term memory (GO:0007614)	2.37191771
91	dopamine transport (GO:0015872)	2.36374387
92	positive regulation of potassium ion transmembrane transport (GO:1901381)	2.36134895
93	heterochromatin organization (GO:0070828)	2.36056520
94	regulation of corticosteroid hormone secretion (GO:2000846)	2.36030811
95	mechanosensory behavior (GO:0007638)	2.35474516
96	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.34979709
97	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.34586994
98	protein complex biogenesis (GO:0070271)	2.33999219
99	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.31699640
100	NADH dehydrogenase complex assembly (GO:0010257)	2.31699640

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.50220192
2	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	4.10638309
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.63245408
4	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.50040180
5	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.42319908
6	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.34663016
7	REST_21632747_ChIP-Seq_MESCs_Mouse	2.32830524
8	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.15455746
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.02679865
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99692292
11	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.98301079
12	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.93722083
13	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.93462858
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.86649749
15	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.85715113
16	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.84451787
17	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.82877112
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.82749353
19	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.78918499
20	ZNF274_21170338_ChIP-Seq_K562_Hela	1.78409835
21	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.74595423
22	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.68133154
23	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.58974094
24	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.55763788
25	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.52688939
26	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.51360750
27	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.50820222
28	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.47571423
29	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.47466522
30	FUS_26573619_Chip-Seq_HEK293_Human	1.47157875
31	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.46968544
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.45139423
33	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44879467
34	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.44619636
35	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.41304961
36	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.40753143
37	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.39618499
38	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.38907754
39	RNF2_27304074_Chip-Seq_NSC_Mouse	1.37951560
40	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.37890167
41	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.37866530
42	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.30321749
43	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.29866106
44	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.29479400
45	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.28573323
46	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.28061641
47	P300_19829295_ChIP-Seq_ESCs_Human	1.27586099
48	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.26551963
49	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.22080809
50	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.21503902
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.19762995
52	E2F7_22180533_ChIP-Seq_HELA_Human	1.18618099
53	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.17051261
54	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.14980606
55	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.14980606
56	EWS_26573619_Chip-Seq_HEK293_Human	1.14490865
57	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.14017892
58	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.13884611
59	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.11627621
60	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.11546490
61	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.11056257
62	TAF15_26573619_Chip-Seq_HEK293_Human	1.09763352
63	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.06927345
64	NACC1_18358816_ChIP-ChIP_MESCs_Mouse	1.06211383
65	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.05461043
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.04429156
67	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.04310572
68	POU5F1_18347094_ChIP-ChIP_MESCs_Mouse	1.02835459
69	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.02174739
70	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.02174739
71	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.02071941
72	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.01903233
73	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.01240399
74	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.00693451
75	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.97936701
76	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	0.96540877
77	TTF2_22483619_ChIP-Seq_HELA_Human	0.96124758
78	POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.95700647
79	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.94708682
80	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.94475191
81	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.94230880
82	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.92272443
83	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.92146573
84	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.92033377
85	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.90946197
86	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.90665051
87	VDR_22108803_ChIP-Seq_LS180_Human	0.90339537
88	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.90216834
89	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.90008551
90	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.88861331
91	SOX9_26525672_Chip-Seq_HEART_Mouse	0.88582151
92	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	0.88494222
93	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	0.88494222
94	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	0.88494222
95	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	0.87293152
96	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.87053152
97	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.84943072
98	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.83015497
99	IGF1R_20145208_ChIP-Seq_DFB_Human	0.82127910
100	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.81971975

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003787_abnormal_imprinting	3.10375227
2	MP0006292_abnormal_olfactory_placode	2.70762302
3	MP0001188_hyperpigmentation	2.58215511
4	MP0003880_abnormal_central_pattern	2.46796750
5	MP0004859_abnormal_synaptic_plasticity	2.30780643
6	MP0006276_abnormal_autonomic_nervous	2.27208320
7	MP0003011_delayed_dark_adaptation	2.19700080
8	MP0009379_abnormal_foot_pigmentation	2.14507766
9	MP0003122_maternal_imprinting	2.13601013
10	MP0003121_genomic_imprinting	2.13344210
11	MP0003890_abnormal_embryonic-extraembry	2.09514727
12	MP0004133_heterotaxia	2.09273618
13	MP0009046_muscle_twitch	2.08675101
14	MP0003123_paternal_imprinting	2.07646947
15	MP0000778_abnormal_nervous_system	2.01112665
16	MP0001529_abnormal_vocalization	1.98396706
17	MP0005646_abnormal_pituitary_gland	1.95831237
18	MP0009745_abnormal_behavioral_response	1.95817928
19	MP0002272_abnormal_nervous_system	1.92727859
20	MP0000537_abnormal_urethra_morphology	1.87619790
21	MP0004270_analgesia	1.87057082
22	MP0000631_abnormal_neuroendocrine_gland	1.86258737
23	MP0003635_abnormal_synaptic_transmissio	1.81803583
24	MP0002734_abnormal_mechanical_nocicepti	1.81295780
25	MP0001485_abnormal_pinna_reflex	1.74631705
26	MP0002102_abnormal_ear_morphology	1.68397519
27	MP0002909_abnormal_adrenal_gland	1.66168876
28	MP0003119_abnormal_digestive_system	1.62720656
29	MP0002736_abnormal_nociception_after	1.61891390
30	MP0008877_abnormal_DNA_methylation	1.59442426
31	MP0008789_abnormal_olfactory_epithelium	1.56225127
32	MP0003937_abnormal_limbs/digits/tail_de	1.54105129
33	MP0005423_abnormal_somatic_nervous	1.53983837
34	MP0002653_abnormal_ependyma_morphology	1.53643833
35	MP0002063_abnormal_learning/memory/cond	1.52883472
36	MP0004145_abnormal_muscle_electrophysio	1.50128687
37	MP0002064_seizures	1.50124398
38	MP0001984_abnormal_olfaction	1.49643920
39	MP0002184_abnormal_innervation	1.49220015
40	MP0001968_abnormal_touch/_nociception	1.48239643
41	MP0003136_yellow_coat_color	1.46949529
42	MP0005499_abnormal_olfactory_system	1.43438131
43	MP0005394_taste/olfaction_phenotype	1.43438131
44	MP0000049_abnormal_middle_ear	1.42341781
45	MP0001905_abnormal_dopamine_level	1.41084455
46	MP0002572_abnormal_emotion/affect_behav	1.40148738
47	MP0003938_abnormal_ear_development	1.40048647
48	MP0004142_abnormal_muscle_tone	1.30860175
49	MP0002751_abnormal_autonomic_nervous	1.28233456
50	MP0001486_abnormal_startle_reflex	1.27623461
51	MP0000955_abnormal_spinal_cord	1.25588040
52	MP0001970_abnormal_pain_threshold	1.25252130
53	MP0003718_maternal_effect	1.24067517
54	MP0002733_abnormal_thermal_nociception	1.23317710
55	MP0002160_abnormal_reproductive_system	1.23095998
56	MP0002735_abnormal_chemical_nociception	1.22657971
57	MP0002234_abnormal_pharynx_morphology	1.22610368
58	MP0002067_abnormal_sensory_capabilities	1.22196419
59	MP0004885_abnormal_endolymph	1.19813710
60	MP0003941_abnormal_skin_development	1.17854954
61	MP0002557_abnormal_social/conspecific_i	1.17722623
62	MP0003861_abnormal_nervous_system	1.15135547
63	MP0004134_abnormal_chest_morphology	1.13096884
64	MP0008872_abnormal_physiological_respon	1.13085959
65	MP0001293_anophthalmia	1.12902464
66	MP0008058_abnormal_DNA_repair	1.11747320
67	MP0002882_abnormal_neuron_morphology	1.10365907
68	MP0008569_lethality_at_weaning	1.10209992
69	MP0001299_abnormal_eye_distance/	1.06809542
70	MP0002233_abnormal_nose_morphology	1.06473103
71	MP0006072_abnormal_retinal_apoptosis	1.05575475
72	MP0004957_abnormal_blastocyst_morpholog	1.05508499
73	MP0004811_abnormal_neuron_physiology	1.05265171
74	MP0002152_abnormal_brain_morphology	1.04412389
75	MP0002752_abnormal_somatic_nervous	1.03803206
76	MP0003315_abnormal_perineum_morphology	1.03277717
77	MP0004742_abnormal_vestibular_system	1.01179014
78	MP0003693_abnormal_embryo_hatching	0.98700651
79	MP0003111_abnormal_nucleus_morphology	0.98425303
80	MP0005551_abnormal_eye_electrophysiolog	0.97277432
81	MP0008932_abnormal_embryonic_tissue	0.93685198
82	MP0005645_abnormal_hypothalamus_physiol	0.91967440
83	MP0008057_abnormal_DNA_replication	0.91648288
84	MP0003567_abnormal_fetal_cardiomyocyte	0.91603851
85	MP0005187_abnormal_penis_morphology	0.91158562
86	MP0002638_abnormal_pupillary_reflex	0.90667586
87	MP0002822_catalepsy	0.88194566
88	MP0005253_abnormal_eye_physiology	0.88144542
89	MP0002697_abnormal_eye_size	0.87584309
90	MP0002066_abnormal_motor_capabilities/c	0.84606130
91	MP0002090_abnormal_vision	0.84230812
92	MP0001286_abnormal_eye_development	0.83026552
93	MP0009672_abnormal_birth_weight	0.82257376
94	MP0003942_abnormal_urinary_system	0.81385159
95	MP0001177_atelectasis	0.79265178
96	MP0005386_behavior/neurological_phenoty	0.79204203
97	MP0004924_abnormal_behavior	0.79204203
98	MP0002163_abnormal_gland_morphology	0.78784738
99	MP0000026_abnormal_inner_ear	0.78603823
100	MP0009053_abnormal_anal_canal	0.78495286

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal hair whorl (HP:0010721)	3.85637576
2	Septo-optic dysplasia (HP:0100842)	3.76231168
3	Bile duct proliferation (HP:0001408)	3.52813291
4	Abnormal biliary tract physiology (HP:0012439)	3.52813291
5	Abnormality of the labia minora (HP:0012880)	3.33978351
6	Hypoplastic pelvis (HP:0008839)	3.09927364
7	Absent septum pellucidum (HP:0001331)	3.02544868
8	Limb dystonia (HP:0002451)	3.01284037
9	Myokymia (HP:0002411)	2.88186917
10	Patent foramen ovale (HP:0001655)	2.78068542
11	Cortical dysplasia (HP:0002539)	2.75300172
12	Reticulocytopenia (HP:0001896)	2.66929012
13	Agitation (HP:0000713)	2.64322308
14	Anosmia (HP:0000458)	2.55692478
15	Abolished electroretinogram (ERG) (HP:0000550)	2.55290608
16	Colon cancer (HP:0003003)	2.45688429
17	Pendular nystagmus (HP:0012043)	2.44237800
18	Abnormality of the septum pellucidum (HP:0007375)	2.44094744
19	Optic nerve hypoplasia (HP:0000609)	2.43857087
20	Hyperglycinuria (HP:0003108)	2.41972463
21	Gonadotropin excess (HP:0000837)	2.38952788
22	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.37022061
23	Progressive cerebellar ataxia (HP:0002073)	2.31734478
24	Hepatoblastoma (HP:0002884)	2.29948061
25	Poor suck (HP:0002033)	2.27060650
26	3-Methylglutaconic aciduria (HP:0003535)	2.21581332
27	Focal motor seizures (HP:0011153)	2.17846291
28	Acute necrotizing encephalopathy (HP:0006965)	2.16513037
29	Genetic anticipation (HP:0003743)	2.15824242
30	Abnormal number of erythroid precursors (HP:0012131)	2.15462289
31	Abnormality of serine family amino acid metabolism (HP:0010894)	2.15317882
32	Abnormality of glycine metabolism (HP:0010895)	2.15317882
33	Restlessness (HP:0000711)	2.12095537
34	Abnormality of cells of the erythroid lineage (HP:0012130)	2.10467733
35	Stenosis of the external auditory canal (HP:0000402)	2.08890661
36	Pancreatic fibrosis (HP:0100732)	2.08281031
37	Hyperglycinemia (HP:0002154)	2.07807089
38	Abnormal number of incisors (HP:0011064)	2.05850901
39	Morphological abnormality of the middle ear (HP:0008609)	2.04552354
40	Hypogonadotrophic hypogonadism (HP:0000044)	2.00996018
41	Pancreatic cysts (HP:0001737)	1.99789553
42	Cerebral hypomyelination (HP:0006808)	1.99783484
43	Drooling (HP:0002307)	1.99181620
44	Visual hallucinations (HP:0002367)	1.97648997
45	Absent thumb (HP:0009777)	1.97456518
46	Focal seizures (HP:0007359)	1.94752490
47	Renal Fanconi syndrome (HP:0001994)	1.92816718
48	Acute encephalopathy (HP:0006846)	1.92448198
49	Humeroradial synostosis (HP:0003041)	1.92190869
50	Synostosis involving the elbow (HP:0003938)	1.92190869
51	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.91017162
52	Rib fusion (HP:0000902)	1.89651283
53	Abnormal lung lobation (HP:0002101)	1.88687723
54	Confusion (HP:0001289)	1.86878121
55	Increased hepatocellular lipid droplets (HP:0006565)	1.86354324
56	Abnormality of the nasal septum (HP:0000419)	1.85868175
57	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.85844744
58	Short 1st metacarpal (HP:0010034)	1.85844744
59	Esophageal atresia (HP:0002032)	1.84761782
60	Meckel diverticulum (HP:0002245)	1.83520057
61	Impaired vibration sensation in the lower limbs (HP:0002166)	1.82702781
62	Maternal diabetes (HP:0009800)	1.82158345
63	Growth hormone deficiency (HP:0000824)	1.80452539
64	Hemivertebrae (HP:0002937)	1.80237488
65	Action tremor (HP:0002345)	1.80196132
66	Abnormal mitochondria in muscle tissue (HP:0008316)	1.80107934
67	Abnormality of the corticospinal tract (HP:0002492)	1.80055950
68	Gaze-evoked nystagmus (HP:0000640)	1.79611835
69	Abnormality of the phalanges of the 5th finger (HP:0004213)	1.76067193
70	Excessive salivation (HP:0003781)	1.74805743
71	Dandy-Walker malformation (HP:0001305)	1.74092112
72	Long foot (HP:0001833)	1.73966987
73	Progressive macrocephaly (HP:0004481)	1.73181595
74	Spastic tetraparesis (HP:0001285)	1.72081488
75	Diastasis recti (HP:0001540)	1.71251575
76	Broad-based gait (HP:0002136)	1.70754205
77	Abnormality of chromosome stability (HP:0003220)	1.70554599
78	Abnormality of the ileum (HP:0001549)	1.69412478
79	Median cleft lip (HP:0000161)	1.69004705
80	Neoplasm of the oral cavity (HP:0100649)	1.68889151
81	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.68669205
82	Intestinal atresia (HP:0011100)	1.68628158
83	Bilateral microphthalmos (HP:0007633)	1.67273493
84	Specific learning disability (HP:0001328)	1.67042040
85	Abnormality of the middle phalanges of the toes (HP:0010183)	1.66801263
86	Abnormality of the renal collecting system (HP:0004742)	1.66663065
87	Megalencephaly (HP:0001355)	1.66497035
88	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.66392682
89	Macrocytic anemia (HP:0001972)	1.65623784
90	Dialeptic seizures (HP:0011146)	1.64588923
91	Methylmalonic acidemia (HP:0002912)	1.63527524
92	Anophthalmia (HP:0000528)	1.62389295
93	Spastic tetraplegia (HP:0002510)	1.61786137
94	Abnormality of midbrain morphology (HP:0002418)	1.61137268
95	Molar tooth sign on MRI (HP:0002419)	1.61137268
96	Myelomeningocele (HP:0002475)	1.60517792
97	Mitochondrial inheritance (HP:0001427)	1.60438736
98	Sloping forehead (HP:0000340)	1.60199197
99	Abnormality of the 1st metacarpal (HP:0010009)	1.59982699
100	Oligodactyly (hands) (HP:0001180)	1.58966352

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	5.94781156
2	MUSK	3.62936744
3	CDC7	3.28104779
4	TAF1	2.68780416
5	DYRK2	2.60445883
6	WNK3	2.26685987
7	MARK1	2.26020661
8	MAP3K4	2.21683676
9	PNCK	2.14176610
10	CAMK1G	2.10701929
11	CASK	2.09352837
12	PINK1	2.09208798
13	MAP3K9	2.08594706
14	CAMK1D	1.84828311
15	DYRK3	1.80096405
16	EPHA4	1.57081883
17	MAP4K2	1.52392010
18	BRAF	1.51164114
19	VRK2	1.49697332
20	MAP2K7	1.47597794
21	NTRK3	1.44139954
22	MAPK13	1.43922433
23	AKT3	1.41388223
24	BUB1	1.37735691
25	NUAK1	1.36934253
26	CSNK1G2	1.32262229
27	ADRBK2	1.31821755
28	PLK3	1.30326037
29	TNIK	1.28042874
30	PRKCG	1.27583419
31	STK16	1.27378875
32	ARAF	1.27143096
33	UHMK1	1.24271076
34	MKNK2	1.22574417
35	SGK494	1.21132306
36	SGK223	1.21132306
37	CDK19	1.20982752
38	MINK1	1.20894162
39	GRK1	1.17939528
40	PAK3	1.07732369
41	VRK1	1.07570116
42	TYRO3	1.04030263
43	NTRK2	1.02804736
44	CDK5	1.01986660
45	DYRK1A	0.91295965
46	CSNK1G3	0.90491347
47	TRIM28	0.90324630
48	SRPK1	0.88025501
49	MKNK1	0.85777961
50	PLK1	0.79778777
51	CSNK1G1	0.78477498
52	PLK2	0.77482822
53	PLK4	0.75537491
54	DAPK2	0.73804671
55	CAMK1	0.73573218
56	CDK15	0.72767637
57	SGK2	0.72454190
58	CAMK4	0.71166944
59	CSNK1A1	0.70645933
60	FGFR2	0.69548897
61	ZAK	0.69432511
62	NME1	0.69419984
63	CAMK2A	0.69088248
64	CDK18	0.68711941
65	BCKDK	0.68671242
66	CDK14	0.66702575
67	MAP2K4	0.66307919
68	ERBB2	0.66286645
69	CDK11A	0.65555323
70	TTK	0.64772132
71	LATS2	0.58624963
72	CSNK1D	0.57021621
73	STK11	0.56960148
74	EPHB2	0.56690713
75	CAMK2B	0.56208906
76	CAMK2D	0.55750968
77	BRSK1	0.55518463
78	CSNK1E	0.54993683
79	PRKACB	0.54549552
80	AURKA	0.52998688
81	MAPKAPK5	0.51489952
82	TSSK6	0.50822604
83	CSNK1A1L	0.50228445
84	GRK5	0.49699932
85	PHKG1	0.49691897
86	PHKG2	0.49691897
87	FRK	0.49032448
88	ATR	0.48204369
89	PRKCE	0.44348868
90	PRKG2	0.44302214
91	DMPK	0.38892098
92	ALK	0.37664683
93	PRKACA	0.37490307
94	FGFR1	0.35558195
95	RPS6KA4	0.35034432
96	CSNK2A2	0.34826116
97	CHEK2	0.34538736
98	PRKG1	0.34527398
99	CAMK2G	0.33947795
100	BCR	0.33461142

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	2.95302756
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.90373392
3	Parkinsons disease_Homo sapiens_hsa05012	2.73086984
4	Ribosome_Homo sapiens_hsa03010	2.64823967
5	Protein export_Homo sapiens_hsa03060	2.42447296
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.20736014
7	Mismatch repair_Homo sapiens_hsa03430	2.19075731
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.14237979
9	DNA replication_Homo sapiens_hsa03030	2.07124134
10	RNA polymerase_Homo sapiens_hsa03020	1.97251042
11	Homologous recombination_Homo sapiens_hsa03440	1.96320453
12	Huntingtons disease_Homo sapiens_hsa05016	1.91189420
13	Steroid biosynthesis_Homo sapiens_hsa00100	1.78505030
14	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.77738691
15	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.73907788
16	Alzheimers disease_Homo sapiens_hsa05010	1.69150857
17	Basal cell carcinoma_Homo sapiens_hsa05217	1.65247959
18	GABAergic synapse_Homo sapiens_hsa04727	1.64222946
19	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.60026250
20	Morphine addiction_Homo sapiens_hsa05032	1.57003135
21	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.55594459
22	Dopaminergic synapse_Homo sapiens_hsa04728	1.50826765
23	Selenocompound metabolism_Homo sapiens_hsa00450	1.46384385
24	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.43926128
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.42828159
26	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.42590238
27	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.38882154
28	Folate biosynthesis_Homo sapiens_hsa00790	1.32512826
29	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.31030813
30	Glutamatergic synapse_Homo sapiens_hsa04724	1.30378826
31	Proteasome_Homo sapiens_hsa03050	1.30138563
32	Non-homologous end-joining_Homo sapiens_hsa03450	1.30104747
33	Basal transcription factors_Homo sapiens_hsa03022	1.23904608
34	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.22288437
35	Circadian entrainment_Homo sapiens_hsa04713	1.17121615
36	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.16192968
37	Long-term depression_Homo sapiens_hsa04730	1.16107310
38	Spliceosome_Homo sapiens_hsa03040	1.15702849
39	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.14651023
40	Phototransduction_Homo sapiens_hsa04744	1.12381086
41	Cocaine addiction_Homo sapiens_hsa05030	1.11332147
42	Insulin secretion_Homo sapiens_hsa04911	1.10956641
43	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.10466495
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.01833549
45	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.01576779
46	Taste transduction_Homo sapiens_hsa04742	0.98787103
47	Wnt signaling pathway_Homo sapiens_hsa04310	0.97404159
48	Serotonergic synapse_Homo sapiens_hsa04726	0.96615896
49	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.96485656
50	RNA transport_Homo sapiens_hsa03013	0.92664683
51	Collecting duct acid secretion_Homo sapiens_hsa04966	0.91621055
52	RNA degradation_Homo sapiens_hsa03018	0.89988702
53	Amphetamine addiction_Homo sapiens_hsa05031	0.87117209
54	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.85040314
55	Oocyte meiosis_Homo sapiens_hsa04114	0.84925544
56	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.77127297
57	Hippo signaling pathway_Homo sapiens_hsa04390	0.75421897
58	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.74912299
59	Cholinergic synapse_Homo sapiens_hsa04725	0.74718224
60	Fatty acid elongation_Homo sapiens_hsa00062	0.73735075
61	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.71937077
62	Butanoate metabolism_Homo sapiens_hsa00650	0.70744848
63	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.68625312
64	Cell cycle_Homo sapiens_hsa04110	0.67576231
65	Purine metabolism_Homo sapiens_hsa00230	0.67445726
66	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.63345804
67	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.62794417
68	Pentose phosphate pathway_Homo sapiens_hsa00030	0.62485568
69	Base excision repair_Homo sapiens_hsa03410	0.62042693
70	mRNA surveillance pathway_Homo sapiens_hsa03015	0.61312630
71	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.58479038
72	Arginine biosynthesis_Homo sapiens_hsa00220	0.56881222
73	beta-Alanine metabolism_Homo sapiens_hsa00410	0.56314128
74	Tryptophan metabolism_Homo sapiens_hsa00380	0.55382022
75	Pyrimidine metabolism_Homo sapiens_hsa00240	0.55230463
76	Nucleotide excision repair_Homo sapiens_hsa03420	0.54691252
77	Pyruvate metabolism_Homo sapiens_hsa00620	0.54355213
78	One carbon pool by folate_Homo sapiens_hsa00670	0.53713355
79	Carbon metabolism_Homo sapiens_hsa01200	0.53666523
80	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.52985402
81	Retinol metabolism_Homo sapiens_hsa00830	0.52404741
82	Metabolic pathways_Homo sapiens_hsa01100	0.52262273
83	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.51396797
84	Endometrial cancer_Homo sapiens_hsa05213	0.51216310
85	Axon guidance_Homo sapiens_hsa04360	0.50663207
86	Olfactory transduction_Homo sapiens_hsa04740	0.48792561
87	Melanoma_Homo sapiens_hsa05218	0.47579659
88	Alcoholism_Homo sapiens_hsa05034	0.47364931
89	cAMP signaling pathway_Homo sapiens_hsa04024	0.45552529
90	Notch signaling pathway_Homo sapiens_hsa04330	0.44734638
91	Peroxisome_Homo sapiens_hsa04146	0.44547802
92	Long-term potentiation_Homo sapiens_hsa04720	0.44070257
93	Calcium signaling pathway_Homo sapiens_hsa04020	0.43272017
94	Gastric acid secretion_Homo sapiens_hsa04971	0.42959090
95	Gap junction_Homo sapiens_hsa04540	0.42126729
96	Melanogenesis_Homo sapiens_hsa04916	0.42031827
97	Tight junction_Homo sapiens_hsa04530	0.41202495
98	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.40986019
99	Glucagon signaling pathway_Homo sapiens_hsa04922	0.40483271
100	Nitrogen metabolism_Homo sapiens_hsa00910	0.38736738

C9ORF129

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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