ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	indole-containing compound catabolic process (GO:0042436)	5.16346817
2	indolalkylamine catabolic process (GO:0046218)	5.16346817
3	tryptophan catabolic process (GO:0006569)	5.16346817
4	positive regulation of developmental pigmentation (GO:0048087)	5.14063702
5	signal peptide processing (GO:0006465)	5.11149232
6	regulation of pigment cell differentiation (GO:0050932)	5.07224692
7	kynurenine metabolic process (GO:0070189)	5.00936285
8	indolalkylamine metabolic process (GO:0006586)	4.88187070
9	snRNA transcription (GO:0009301)	4.43721308
10	monoubiquitinated protein deubiquitination (GO:0035520)	4.37863984
11	regulation of hippo signaling (GO:0035330)	4.37211674
12	tryptophan metabolic process (GO:0006568)	4.27958661
13	regulation of gene silencing by RNA (GO:0060966)	4.25433665
14	regulation of posttranscriptional gene silencing (GO:0060147)	4.25433665
15	regulation of gene silencing by miRNA (GO:0060964)	4.25433665
16	cilium or flagellum-dependent cell motility (GO:0001539)	4.11061099
17	interkinetic nuclear migration (GO:0022027)	4.01473330
18	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.98279409
19	neural tube formation (GO:0001841)	3.84484472
20	regulation of establishment of cell polarity (GO:2000114)	3.77750325
21	protein K48-linked deubiquitination (GO:0071108)	3.76778170
22	indole-containing compound metabolic process (GO:0042430)	3.66833343
23	behavioral response to nicotine (GO:0035095)	3.65455725
24	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.64865165
25	regulation of translation, ncRNA-mediated (GO:0045974)	3.64865165
26	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.64865165
27	establishment of protein localization to Golgi (GO:0072600)	3.58083295
28	negative regulation of sodium ion transport (GO:0010766)	3.51449295
29	gamma-aminobutyric acid transport (GO:0015812)	3.50417875
30	serotonin metabolic process (GO:0042428)	3.49505637
31	sphingoid metabolic process (GO:0046519)	3.48062478
32	detection of light stimulus involved in visual perception (GO:0050908)	3.47704337
33	detection of light stimulus involved in sensory perception (GO:0050962)	3.47704337
34	regulation of establishment or maintenance of cell polarity (GO:0032878)	3.41229742
35	oxidative demethylation (GO:0070989)	3.38755569
36	phospholipid translocation (GO:0045332)	3.38295798
37	lipid translocation (GO:0034204)	3.38295798
38	flavonoid metabolic process (GO:0009812)	3.33768829
39	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.33258083
40	photoreceptor cell maintenance (GO:0045494)	3.30235142
41	cellular response to ethanol (GO:0071361)	3.27886051
42	reflex (GO:0060004)	3.27738071
43	tachykinin receptor signaling pathway (GO:0007217)	3.25967079
44	cellular response to sterol (GO:0036315)	3.22703103
45	negative regulation of systemic arterial blood pressure (GO:0003085)	3.19361653
46	protein K11-linked deubiquitination (GO:0035871)	3.19256278
47	regulation of sarcomere organization (GO:0060297)	3.17712281
48	negative regulation of keratinocyte proliferation (GO:0010839)	3.15728662
49	primary amino compound metabolic process (GO:1901160)	3.14567346
50	behavioral response to ethanol (GO:0048149)	3.14065347
51	NAD biosynthetic process (GO:0009435)	3.12550638
52	UDP-N-acetylglucosamine metabolic process (GO:0006047)	3.11637863
53	L-fucose catabolic process (GO:0042355)	3.04274697
54	fucose catabolic process (GO:0019317)	3.04274697
55	L-fucose metabolic process (GO:0042354)	3.04274697
56	thyroid hormone metabolic process (GO:0042403)	2.98863909
57	cellular biogenic amine catabolic process (GO:0042402)	2.95529347
58	amine catabolic process (GO:0009310)	2.95529347
59	protein K63-linked deubiquitination (GO:0070536)	2.91704800
60	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.91345043
61	cellular ketone body metabolic process (GO:0046950)	2.90256498
62	cytoplasmic mRNA processing body assembly (GO:0033962)	2.90215658
63	pericardium development (GO:0060039)	2.89457324
64	central nervous system neuron axonogenesis (GO:0021955)	2.88467593
65	benzene-containing compound metabolic process (GO:0042537)	2.88003105
66	appendage development (GO:0048736)	2.86733896
67	limb development (GO:0060173)	2.86733896
68	aromatic amino acid family catabolic process (GO:0009074)	2.85477767
69	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	2.83353166
70	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.80513809
71	negative regulation of protein localization to cell surface (GO:2000009)	2.80103245
72	sulfation (GO:0051923)	2.77939774
73	endosome to melanosome transport (GO:0035646)	2.77020115
74	endosome to pigment granule transport (GO:0043485)	2.77020115
75	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.76328909
76	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.73079788
77	membrane depolarization during action potential (GO:0086010)	2.72503769
78	protein targeting to lysosome (GO:0006622)	2.70755607
79	establishment of protein localization to vacuole (GO:0072666)	2.70755607
80	protein targeting to vacuole (GO:0006623)	2.70755607
81	cardiovascular system development (GO:0072358)	2.68239182
82	aromatic amino acid family metabolic process (GO:0009072)	2.65677023
83	central nervous system projection neuron axonogenesis (GO:0021952)	2.64153350
84	DNA methylation involved in gamete generation (GO:0043046)	2.63368900
85	histone H3-K9 methylation (GO:0051567)	2.62215134
86	microtubule anchoring (GO:0034453)	2.62174449
87	neuronal action potential (GO:0019228)	2.62098181
88	auditory receptor cell stereocilium organization (GO:0060088)	2.61157955
89	retinal cone cell development (GO:0046549)	2.60249561
90	prenylation (GO:0097354)	2.59847870
91	protein prenylation (GO:0018342)	2.59847870
92	synaptic vesicle docking involved in exocytosis (GO:0016081)	2.59171386
93	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.59074726
94	ketone body metabolic process (GO:1902224)	2.55413711
95	cilium organization (GO:0044782)	2.54499427
96	reciprocal meiotic recombination (GO:0007131)	2.54049322
97	reciprocal DNA recombination (GO:0035825)	2.54049322
98	cilium assembly (GO:0042384)	2.52365130
99	regulation of developmental pigmentation (GO:0048070)	2.51001792
100	transmission of nerve impulse (GO:0019226)	2.50422776

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.57857455
2	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.17948283
3	EZH2_22144423_ChIP-Seq_EOC_Human	2.99342434
4	VDR_22108803_ChIP-Seq_LS180_Human	2.96194032
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.75360433
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.65276852
7	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.65258623
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.63301320
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.50610161
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.42941568
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.42174053
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.37365606
13	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.32839237
14	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.23146004
15	P300_19829295_ChIP-Seq_ESCs_Human	2.13303737
16	STAT3_23295773_ChIP-Seq_U87_Human	2.06028774
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.05205711
18	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.03907536
19	AR_21572438_ChIP-Seq_LNCaP_Human	2.03518884
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.94503425
21	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.94041924
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.92094486
23	EWS_26573619_Chip-Seq_HEK293_Human	1.91496025
24	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.90031511
25	FUS_26573619_Chip-Seq_HEK293_Human	1.89225704
26	SMAD4_21799915_ChIP-Seq_A2780_Human	1.87487578
27	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.87429833
28	TP53_16413492_ChIP-PET_HCT116_Human	1.79564031
29	TCF4_23295773_ChIP-Seq_U87_Human	1.76843883
30	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.74384622
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.73988988
32	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.72518910
33	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.72518910
34	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.71846585
35	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.70997311
36	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.67376226
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.63759825
38	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.60490287
39	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.55830887
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.54139444
41	AR_25329375_ChIP-Seq_VCAP_Human	1.53807504
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.52420911
43	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.52420911
44	DROSHA_22980978_ChIP-Seq_HELA_Human	1.47269206
45	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.44075792
46	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.42957531
47	TCF4_22108803_ChIP-Seq_LS180_Human	1.41695044
48	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.38476906
49	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.37632320
50	AHR_22903824_ChIP-Seq_MCF-7_Human	1.36883584
51	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.33936533
52	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.33733522
53	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.32258730
54	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.31786729
55	RUNX2_22187159_ChIP-Seq_PCA_Human	1.31571200
56	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.31558473
57	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31222872
58	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.30927466
59	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.30420782
60	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.29310820
61	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.26909888
62	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.25383936
63	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24076097
64	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.23642309
65	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.23415090
66	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.22184477
67	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.21973142
68	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21691873
69	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.20996512
70	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.20895432
71	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.20064785
72	RXR_22108803_ChIP-Seq_LS180_Human	1.19449999
73	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.19190327
74	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.19022564
75	KDM2B_26808549_Chip-Seq_REH_Human	1.15852498
76	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.14215040
77	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.12051020
78	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.11725741
79	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.11561506
80	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.11037299
81	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.10978416
82	AR_19668381_ChIP-Seq_PC3_Human	1.09869482
83	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.09783946
84	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.09474406
85	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.09474406
86	CDX2_22108803_ChIP-Seq_LS180_Human	1.09462355
87	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.08553385
88	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.05774877
89	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.05762672
90	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.05558252
91	TP53_18474530_ChIP-ChIP_U2OS_Human	1.05288571
92	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04959814
93	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.04485290
94	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.04077532
95	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.03597638
96	IRF1_19129219_ChIP-ChIP_H3396_Human	1.00644253
97	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.99664551
98	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	0.98499083
99	CJUN_26792858_Chip-Seq_BT549_Human	0.98006318
100	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97861380

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	5.17208694
2	MP0008057_abnormal_DNA_replication	4.43283430
3	MP0003646_muscle_fatigue	3.62753750
4	MP0003195_calcinosis	3.54193632
5	MP0003136_yellow_coat_color	3.26597681
6	MP0009046_muscle_twitch	2.65236083
7	MP0003890_abnormal_embryonic-extraembry	2.60088403
8	MP0002837_dystrophic_cardiac_calcinosis	2.58831929
9	MP0004043_abnormal_pH_regulation	2.47958769
10	MP0001501_abnormal_sleep_pattern	2.43884201
11	MP0005551_abnormal_eye_electrophysiolog	2.31119605
12	MP0001968_abnormal_touch/_nociception	2.28293462
13	MP0002736_abnormal_nociception_after	2.14746349
14	MP0005171_absent_coat_pigmentation	2.09816128
15	MP0000427_abnormal_hair_cycle	2.08990542
16	MP0003045_fibrosis	2.04652313
17	MP0009745_abnormal_behavioral_response	1.88712666
18	MP0000383_abnormal_hair_follicle	1.75757924
19	MP0008877_abnormal_DNA_methylation	1.72979896
20	MP0005174_abnormal_tail_pigmentation	1.63924133
21	MP0004130_abnormal_muscle_cell	1.63429259
22	MP0001486_abnormal_startle_reflex	1.61599693
23	MP0004142_abnormal_muscle_tone	1.60621199
24	MP0008961_abnormal_basal_metabolism	1.59133045
25	MP0002938_white_spotting	1.58352631
26	MP0006276_abnormal_autonomic_nervous	1.54655814
27	MP0002272_abnormal_nervous_system	1.51493516
28	MP0002735_abnormal_chemical_nociception	1.49769605
29	MP0002064_seizures	1.47130955
30	MP0004145_abnormal_muscle_electrophysio	1.43447384
31	MP0002168_other_aberrant_phenotype	1.42808830
32	MP0002653_abnormal_ependyma_morphology	1.40813673
33	MP0001485_abnormal_pinna_reflex	1.39746460
34	MP0004924_abnormal_behavior	1.38703742
35	MP0005386_behavior/neurological_phenoty	1.38703742
36	MP0005253_abnormal_eye_physiology	1.37508637
37	MP0005670_abnormal_white_adipose	1.37488302
38	MP0002572_abnormal_emotion/affect_behav	1.34125456
39	MP0005646_abnormal_pituitary_gland	1.32773332
40	MP0003787_abnormal_imprinting	1.32680739
41	MP0002067_abnormal_sensory_capabilities	1.32065212
42	MP0003635_abnormal_synaptic_transmissio	1.31014705
43	MP0003880_abnormal_central_pattern	1.27963282
44	MP0003950_abnormal_plasma_membrane	1.27755255
45	MP0004147_increased_porphyrin_level	1.27180744
46	MP0005266_abnormal_metabolism	1.20223867
47	MP0008872_abnormal_physiological_respon	1.18149816
48	MP0003252_abnormal_bile_duct	1.17896361
49	MP0001970_abnormal_pain_threshold	1.17498907
50	MP0003937_abnormal_limbs/digits/tail_de	1.16000552
51	MP0005085_abnormal_gallbladder_physiolo	1.14222985
52	MP0002102_abnormal_ear_morphology	1.14175545
53	MP0005310_abnormal_salivary_gland	1.13734049
54	MP0000538_abnormal_urinary_bladder	1.13584073
55	MP0002557_abnormal_social/conspecific_i	1.11939330
56	MP0006292_abnormal_olfactory_placode	1.09060120
57	MP0003879_abnormal_hair_cell	1.08401000
58	MP0002063_abnormal_learning/memory/cond	1.07470451
59	MP0000778_abnormal_nervous_system	1.07421802
60	MP0002095_abnormal_skin_pigmentation	1.06909745
61	MP0010386_abnormal_urinary_bladder	1.06397223
62	MP0002138_abnormal_hepatobiliary_system	1.06032477
63	MP0005395_other_phenotype	1.05206726
64	MP0001984_abnormal_olfaction	1.04974198
65	MP0000631_abnormal_neuroendocrine_gland	1.04671588
66	MP0003137_abnormal_impulse_conducting	1.04319816
67	MP0002733_abnormal_thermal_nociception	1.04249417
68	MP0002928_abnormal_bile_duct	1.01457765
69	MP0000371_diluted_coat_color	1.00495202
70	MP0006054_spinal_hemorrhage	0.99218586
71	MP0002638_abnormal_pupillary_reflex	0.98175529
72	MP0001986_abnormal_taste_sensitivity	0.98016466
73	MP0003119_abnormal_digestive_system	0.97810491
74	MP0003633_abnormal_nervous_system	0.96924308
75	MP0002876_abnormal_thyroid_physiology	0.94252167
76	MP0005645_abnormal_hypothalamus_physiol	0.93136144
77	MP0002229_neurodegeneration	0.90652328
78	MP0004381_abnormal_hair_follicle	0.88679251
79	MP0002734_abnormal_mechanical_nocicepti	0.88656487
80	MP0003718_maternal_effect	0.88344619
81	MP0005195_abnormal_posterior_eye	0.87543040
82	MP0002882_abnormal_neuron_morphology	0.84849576
83	MP0006072_abnormal_retinal_apoptosis	0.83014036
84	MP0003631_nervous_system_phenotype	0.82487287
85	MP0005377_hearing/vestibular/ear_phenot	0.82434682
86	MP0003878_abnormal_ear_physiology	0.82434682
87	MP0001324_abnormal_eye_pigmentation	0.81204703
88	MP0000230_abnormal_systemic_arterial	0.80651278
89	MP0002752_abnormal_somatic_nervous	0.80576554
90	MP0004133_heterotaxia	0.80276935
91	MP0010678_abnormal_skin_adnexa	0.79225932
92	MP0000372_irregular_coat_pigmentation	0.78321592
93	MP0005167_abnormal_blood-brain_barrier	0.77703383
94	MP0000955_abnormal_spinal_cord	0.77294450
95	MP0003698_abnormal_male_reproductive	0.75393785
96	MP0004215_abnormal_myocardial_fiber	0.74531109
97	MP0004742_abnormal_vestibular_system	0.72961620
98	MP0003632_abnormal_nervous_system	0.72573098
99	MP0000470_abnormal_stomach_morphology	0.72196428
100	MP0002184_abnormal_innervation	0.70777103

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Genetic anticipation (HP:0003743)	5.31463760
2	Pancreatic cysts (HP:0001737)	4.70469513
3	Hyperventilation (HP:0002883)	4.62044689
4	Gaze-evoked nystagmus (HP:0000640)	4.24827827
5	Progressive cerebellar ataxia (HP:0002073)	4.21669825
6	Pancreatic fibrosis (HP:0100732)	3.97864086
7	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	3.96002476
8	Protruding tongue (HP:0010808)	3.89363618
9	True hermaphroditism (HP:0010459)	3.76622221
10	Clumsiness (HP:0002312)	3.56090397
11	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.46609721
12	Increased neuronal autofluorescent lipopigment (HP:0002074)	3.44752946
13	Abnormality of midbrain morphology (HP:0002418)	3.33950797
14	Molar tooth sign on MRI (HP:0002419)	3.33950797
15	Chronic hepatic failure (HP:0100626)	3.17462523
16	Cystic liver disease (HP:0006706)	3.15647907
17	Abnormality of the renal cortex (HP:0011035)	3.06530185
18	Nephronophthisis (HP:0000090)	3.05278612
19	Abnormality of the renal medulla (HP:0100957)	2.96901648
20	Fair hair (HP:0002286)	2.94957789
21	Birth length less than 3rd percentile (HP:0003561)	2.94448238
22	Congenital stationary night blindness (HP:0007642)	2.89304087
23	Febrile seizures (HP:0002373)	2.87952822
24	Attenuation of retinal blood vessels (HP:0007843)	2.84326549
25	Dialeptic seizures (HP:0011146)	2.78527785
26	Focal seizures (HP:0007359)	2.69186137
27	Patellar aplasia (HP:0006443)	2.68830384
28	Preaxial foot polydactyly (HP:0001841)	2.67313774
29	Hypoplastic ischia (HP:0003175)	2.65408547
30	Focal motor seizures (HP:0011153)	2.65091798
31	Tubular atrophy (HP:0000092)	2.64059314
32	Dysmetric saccades (HP:0000641)	2.63386611
33	Broad-based gait (HP:0002136)	2.62206270
34	Abnormality of the ischium (HP:0003174)	2.58061792
35	Inability to walk (HP:0002540)	2.57682652
36	Increased cerebral lipofuscin (HP:0011813)	2.57216871
37	Medial flaring of the eyebrow (HP:0010747)	2.54932529
38	Progressive inability to walk (HP:0002505)	2.50507408
39	Absent speech (HP:0001344)	2.48166407
40	Cerebellar dysplasia (HP:0007033)	2.45505589
41	Aplasia/Hypoplasia of the patella (HP:0006498)	2.42860768
42	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.38401847
43	Abnormality of alanine metabolism (HP:0010916)	2.38401847
44	Hyperalaninemia (HP:0003348)	2.38401847
45	Bony spicule pigmentary retinopathy (HP:0007737)	2.38020699
46	Congenital sensorineural hearing impairment (HP:0008527)	2.37099281
47	Absence seizures (HP:0002121)	2.35223215
48	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.34482314
49	Central scotoma (HP:0000603)	2.32810901
50	Hypoplastic labia majora (HP:0000059)	2.31865992
51	Type II lissencephaly (HP:0007260)	2.31793021
52	Furrowed tongue (HP:0000221)	2.30167379
53	Large for gestational age (HP:0001520)	2.26807377
54	Congenital hepatic fibrosis (HP:0002612)	2.24541004
55	Gait imbalance (HP:0002141)	2.22714954
56	Generalized hypopigmentation of hair (HP:0011358)	2.21586442
57	Amelogenesis imperfecta (HP:0000705)	2.19991207
58	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.18590776
59	Abnormality of the labia majora (HP:0012881)	2.18533246
60	Widely spaced teeth (HP:0000687)	2.16044524
61	Congenital primary aphakia (HP:0007707)	2.15162909
62	Sclerocornea (HP:0000647)	2.10027723
63	Anencephaly (HP:0002323)	2.09241412
64	Genital tract atresia (HP:0001827)	2.09132004
65	Short foot (HP:0001773)	2.07895529
66	Urinary bladder sphincter dysfunction (HP:0002839)	2.07286594
67	Abolished electroretinogram (ERG) (HP:0000550)	2.06977022
68	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.06500687
69	Decreased circulating renin level (HP:0003351)	2.05869641
70	Vaginal atresia (HP:0000148)	2.04482719
71	Absent radius (HP:0003974)	2.04412512
72	Small hand (HP:0200055)	2.04212615
73	Increased corneal curvature (HP:0100692)	2.00291592
74	Keratoconus (HP:0000563)	2.00291592
75	Poor coordination (HP:0002370)	1.99296198
76	Drooling (HP:0002307)	1.98686121
77	Aplasia involving forearm bones (HP:0009822)	1.95891129
78	Absent forearm bone (HP:0003953)	1.95891129
79	Preaxial hand polydactyly (HP:0001177)	1.95308324
80	Chromsome breakage (HP:0040012)	1.94826694
81	Lissencephaly (HP:0001339)	1.94143758
82	Hypoplasia of the pons (HP:0012110)	1.92127615
83	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.90964866
84	Nephrogenic diabetes insipidus (HP:0009806)	1.90731637
85	Highly arched eyebrow (HP:0002553)	1.89795927
86	Abnormal drinking behavior (HP:0030082)	1.88218989
87	Polydipsia (HP:0001959)	1.88218989
88	Abnormality of binocular vision (HP:0011514)	1.88040311
89	Diplopia (HP:0000651)	1.88040311
90	Volvulus (HP:0002580)	1.85052800
91	Postaxial foot polydactyly (HP:0001830)	1.83237616
92	Scotoma (HP:0000575)	1.82342792
93	Abnormality of the pons (HP:0007361)	1.82118054
94	Abnormality of the pubic bones (HP:0003172)	1.81676105
95	Impaired smooth pursuit (HP:0007772)	1.80116100
96	Enlarged kidneys (HP:0000105)	1.80012477
97	Atonic seizures (HP:0010819)	1.79951032
98	Pendular nystagmus (HP:0012043)	1.78768259
99	Absent/shortened dynein arms (HP:0200106)	1.78099153
100	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.78099153

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ACVR1B	4.16248010
2	BMPR1B	3.36786979
3	LATS1	2.47122511
4	STK38L	2.35836613
5	MKNK2	2.13715375
6	CASK	2.11473638
7	ADRBK2	2.10897042
8	FRK	10.9382656
9	NTRK3	1.63805584
10	ZAK	1.62765984
11	WNK3	1.51519580
12	AKT3	1.47266780
13	MAPK13	1.43792693
14	INSRR	1.42698447
15	TGFBR1	1.36395139
16	GRK1	1.33145362
17	OXSR1	1.31005600
18	ADRBK1	1.27664170
19	PIK3CG	1.24411280
20	TNIK	1.19347164
21	MAP3K4	1.13099508
22	MELK	1.11876379
23	TAOK3	1.10802331
24	NUAK1	1.10430749
25	STK3	1.06243283
26	NLK	1.05274327
27	STK39	1.01971855
28	STK38	0.99784059
29	PINK1	0.95187032
30	CAMK1G	0.92761468
31	BRSK2	0.90607657
32	MKNK1	0.90228332
33	MARK1	0.88746023
34	MAP3K7	0.86829256
35	CAMK1D	0.86256438
36	PRKAA2	0.85104299
37	DAPK2	0.83278396
38	EPHA4	0.81298538
39	PIK3CA	0.80768165
40	SGK2	0.80195042
41	PAK3	0.77443780
42	MAP4K2	0.72151036
43	PNCK	0.71631968
44	BRD4	0.70913420
45	WNK4	0.68978904
46	PTK2B	0.67475945
47	PRKCG	0.66114624
48	TEC	0.63934625
49	PRKCE	0.63760129
50	TRPM7	0.60603816
51	OBSCN	0.59029117
52	NTRK2	0.58908894
53	CAMKK2	0.56845351
54	TNK2	0.55789532
55	NEK2	0.55574703
56	PKN1	0.50276396
57	CHUK	0.49872085
58	CAMK2A	0.49653587
59	ERBB2	0.48584594
60	FGFR2	0.48300902
61	FER	0.47407001
62	CAMK1	0.47393391
63	STK11	0.47189732
64	SIK2	0.45496001
65	CHEK2	0.44918578
66	SGK223	0.44452070
67	SGK494	0.44452070
68	PRKAA1	0.42018529
69	CAMK4	0.41420051
70	CSNK1D	0.39934537
71	CDK12	0.39804565
72	IRAK1	0.39778102
73	CSNK1A1L	0.37884481
74	SGK1	0.37566782
75	PLK4	0.37474072
76	TLK1	0.36273939
77	MAP2K1	0.32676746
78	CDK3	0.32441766
79	ATM	0.29672470
80	PRKACB	0.29418800
81	PLK2	0.28710498
82	GSK3B	0.27855616
83	PRKACA	0.26612076
84	ATR	0.26502759
85	RPS6KA3	0.26293796
86	WNK1	0.25560567
87	MAP2K7	0.25200966
88	WEE1	0.24625834
89	MARK3	0.24537190
90	CDC7	0.22902936
91	TXK	0.22188566
92	AKT1	0.22167472
93	PRKG1	0.21351400
94	MAPK8	0.20623792
95	CSNK1A1	0.20500381
96	PRKCB	0.20159057
97	GRK7	0.20071309
98	SGK3	0.19654236
99	KIT	0.18509080
100	PLK1	0.18444000

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	3.09944170
2	Phototransduction_Homo sapiens_hsa04744	2.67413001
3	Butanoate metabolism_Homo sapiens_hsa00650	2.65686601
4	ABC transporters_Homo sapiens_hsa02010	2.53186641
5	Tryptophan metabolism_Homo sapiens_hsa00380	2.51633941
6	Taste transduction_Homo sapiens_hsa04742	2.18217155
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.17473982
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.09872455
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.06782347
10	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.98958002
11	Homologous recombination_Homo sapiens_hsa03440	1.98627922
12	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.98288847
13	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.95481521
14	Morphine addiction_Homo sapiens_hsa05032	1.85179224
15	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.83648023
16	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.74068012
17	Glutamatergic synapse_Homo sapiens_hsa04724	1.70222185
18	Lysine degradation_Homo sapiens_hsa00310	1.67686396
19	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.66668867
20	Histidine metabolism_Homo sapiens_hsa00340	1.63554846
21	Olfactory transduction_Homo sapiens_hsa04740	1.60627607
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.51860418
23	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.49463382
24	Circadian entrainment_Homo sapiens_hsa04713	1.47840431
25	Calcium signaling pathway_Homo sapiens_hsa04020	1.45568186
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.44471011
27	Glycerolipid metabolism_Homo sapiens_hsa00561	1.42486754
28	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.42228971
29	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.39703498
30	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.38175478
31	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.36380854
32	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.35478213
33	GABAergic synapse_Homo sapiens_hsa04727	1.34604441
34	Selenocompound metabolism_Homo sapiens_hsa00450	1.32961646
35	Serotonergic synapse_Homo sapiens_hsa04726	1.32276314
36	Salivary secretion_Homo sapiens_hsa04970	1.27957198
37	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.20531548
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.11959515
39	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.10268403
40	Retinol metabolism_Homo sapiens_hsa00830	1.08422125
41	Insulin secretion_Homo sapiens_hsa04911	1.07560010
42	Chemical carcinogenesis_Homo sapiens_hsa05204	1.06653954
43	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.03063797
44	Sphingolipid metabolism_Homo sapiens_hsa00600	1.02270871
45	beta-Alanine metabolism_Homo sapiens_hsa00410	1.00767547
46	Gastric acid secretion_Homo sapiens_hsa04971	0.96813008
47	Long-term depression_Homo sapiens_hsa04730	0.95909997
48	Cholinergic synapse_Homo sapiens_hsa04725	0.95779449
49	Caffeine metabolism_Homo sapiens_hsa00232	0.94864368
50	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.92542358
51	Propanoate metabolism_Homo sapiens_hsa00640	0.88889236
52	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.88551167
53	cAMP signaling pathway_Homo sapiens_hsa04024	0.87756181
54	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.85961123
55	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.84618220
56	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.82826331
57	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.78455914
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.75015469
59	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.68736355
60	Basal transcription factors_Homo sapiens_hsa03022	0.68651024
61	Type II diabetes mellitus_Homo sapiens_hsa04930	0.68534978
62	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.66373566
63	Circadian rhythm_Homo sapiens_hsa04710	0.66250127
64	Dopaminergic synapse_Homo sapiens_hsa04728	0.63932460
65	Non-homologous end-joining_Homo sapiens_hsa03450	0.63775936
66	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.61274721
67	Fatty acid degradation_Homo sapiens_hsa00071	0.60308378
68	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.60161049
69	One carbon pool by folate_Homo sapiens_hsa00670	0.60088333
70	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.59258115
71	Bile secretion_Homo sapiens_hsa04976	0.58635577
72	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.58075667
73	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.53972744
74	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.53373002
75	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.53052856
76	Renin secretion_Homo sapiens_hsa04924	0.50249292
77	Cocaine addiction_Homo sapiens_hsa05030	0.47211363
78	Pancreatic secretion_Homo sapiens_hsa04972	0.46907385
79	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.46865581
80	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.46513709
81	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.44348999
82	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.42765165
83	RNA polymerase_Homo sapiens_hsa03020	0.42400816
84	Melanoma_Homo sapiens_hsa05218	0.41595688
85	FoxO signaling pathway_Homo sapiens_hsa04068	0.41203832
86	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.38424681
87	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.37196950
88	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.37081020
89	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.37074403
90	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.36745115
91	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.36443038
92	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.36154177
93	Hippo signaling pathway_Homo sapiens_hsa04390	0.35652877
94	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.35277059
95	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.35127372
96	Peroxisome_Homo sapiens_hsa04146	0.34891211
97	Amphetamine addiction_Homo sapiens_hsa05031	0.34869444
98	Ras signaling pathway_Homo sapiens_hsa04014	0.34294607
99	Choline metabolism in cancer_Homo sapiens_hsa05231	0.30872403
100	Estrogen signaling pathway_Homo sapiens_hsa04915	0.30214265

C12ORF45

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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