ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	5.38698237
2	DNA methylation involved in gamete generation (GO:0043046)	4.84094337
3	cilium or flagellum-dependent cell motility (GO:0001539)	4.73604718
4	retinal cone cell development (GO:0046549)	4.63867707
5	regulation of meiosis I (GO:0060631)	4.52256686
6	synapsis (GO:0007129)	4.29575422
7	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.16819263
8	photoreceptor cell maintenance (GO:0045494)	3.82477893
9	axoneme assembly (GO:0035082)	3.79464468
10	indolalkylamine metabolic process (GO:0006586)	3.78569071
11	response to pheromone (GO:0019236)	3.74276331
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.72886176
13	male meiosis (GO:0007140)	3.72303406
14	epithelial cilium movement (GO:0003351)	3.63525568
15	centriole replication (GO:0007099)	3.62796339
16	neural tube formation (GO:0001841)	3.62062853
17	male meiosis I (GO:0007141)	3.59209280
18	cilium movement (GO:0003341)	3.51763596
19	detection of light stimulus involved in visual perception (GO:0050908)	3.45853799
20	detection of light stimulus involved in sensory perception (GO:0050962)	3.45853799
21	behavioral response to nicotine (GO:0035095)	3.36112094
22	indole-containing compound catabolic process (GO:0042436)	3.32183592
23	indolalkylamine catabolic process (GO:0046218)	3.32183592
24	tryptophan catabolic process (GO:0006569)	3.32183592
25	DNA double-strand break processing (GO:0000729)	3.26843967
26	protein K11-linked deubiquitination (GO:0035871)	3.23477433
27	tachykinin receptor signaling pathway (GO:0007217)	3.22702065
28	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.13574656
29	fucose catabolic process (GO:0019317)	3.13186760
30	L-fucose metabolic process (GO:0042354)	3.13186760
31	L-fucose catabolic process (GO:0042355)	3.13186760
32	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.12091965
33	kynurenine metabolic process (GO:0070189)	3.08887952
34	establishment of protein localization to Golgi (GO:0072600)	3.06505239
35	positive regulation of meiosis (GO:0045836)	3.02936870
36	reflex (GO:0060004)	3.02550568
37	regulation of cilium movement (GO:0003352)	3.02097731
38	behavioral response to ethanol (GO:0048149)	3.01318250
39	cilium organization (GO:0044782)	3.00715006
40	gene silencing by RNA (GO:0031047)	3.00483642
41	acrosome reaction (GO:0007340)	2.99528013
42	cilium morphogenesis (GO:0060271)	2.99049756
43	prenylation (GO:0097354)	2.97238990
44	protein prenylation (GO:0018342)	2.97238990
45	signal peptide processing (GO:0006465)	2.95979978
46	tryptophan metabolic process (GO:0006568)	2.95332063
47	cellular ketone body metabolic process (GO:0046950)	2.94007913
48	cilium assembly (GO:0042384)	2.90646492
49	gamma-aminobutyric acid transport (GO:0015812)	2.89270906
50	chromosome organization involved in meiosis (GO:0070192)	2.83588821
51	indole-containing compound metabolic process (GO:0042430)	2.82969047
52	protein polyglutamylation (GO:0018095)	2.81249759
53	positive regulation of meiotic cell cycle (GO:0051446)	2.81086032
54	L-methionine salvage (GO:0071267)	2.80166366
55	L-methionine biosynthetic process (GO:0071265)	2.80166366
56	amino acid salvage (GO:0043102)	2.80166366
57	reciprocal meiotic recombination (GO:0007131)	2.79930668
58	reciprocal DNA recombination (GO:0035825)	2.79930668
59	multicellular organism reproduction (GO:0032504)	2.79831067
60	respiratory chain complex IV assembly (GO:0008535)	2.78404033
61	resolution of meiotic recombination intermediates (GO:0000712)	2.71695326
62	photoreceptor cell development (GO:0042461)	2.70085836
63	meiosis I (GO:0007127)	2.66939869
64	nonmotile primary cilium assembly (GO:0035058)	2.65072872
65	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	2.64865200
66	recombinational repair (GO:0000725)	2.64551355
67	double-strand break repair via homologous recombination (GO:0000724)	2.64296226
68	sperm motility (GO:0030317)	2.63495091
69	intraciliary transport (GO:0042073)	2.61421481
70	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.61258376
71	ketone body metabolic process (GO:1902224)	2.60883903
72	microtubule depolymerization (GO:0007019)	2.60436049
73	microtubule polymerization or depolymerization (GO:0031109)	2.60242698
74	methionine biosynthetic process (GO:0009086)	2.60010790
75	single strand break repair (GO:0000012)	2.59985936
76	replication fork processing (GO:0031297)	2.58598273
77	meiotic nuclear division (GO:0007126)	2.57746972
78	regulation of hippo signaling (GO:0035330)	2.56579650
79	sulfation (GO:0051923)	2.52503434
80	pyrimidine nucleobase catabolic process (GO:0006208)	2.51226422
81	transmission of nerve impulse (GO:0019226)	2.50889101
82	dopamine transport (GO:0015872)	2.50075042
83	protein targeting to Golgi (GO:0000042)	2.49637677
84	benzene-containing compound metabolic process (GO:0042537)	2.48594506
85	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.47719954
86	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.47719954
87	serotonin metabolic process (GO:0042428)	2.47539340
88	eye photoreceptor cell development (GO:0042462)	2.46268352
89	positive regulation of developmental pigmentation (GO:0048087)	2.46023602
90	oxidative demethylation (GO:0070989)	2.45935904
91	platelet dense granule organization (GO:0060155)	2.45122842
92	meiotic chromosome segregation (GO:0045132)	2.44555848
93	protein localization to cilium (GO:0061512)	2.44012536
94	righting reflex (GO:0060013)	2.43966091
95	somite rostral/caudal axis specification (GO:0032525)	2.43601070
96	auditory receptor cell stereocilium organization (GO:0060088)	2.43412805
97	retinal rod cell development (GO:0046548)	2.43129688
98	regulation of acrosome reaction (GO:0060046)	2.43084516
99	phasic smooth muscle contraction (GO:0014821)	2.42935156
100	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.41132000

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.41920451
2	VDR_22108803_ChIP-Seq_LS180_Human	3.31945820
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.26424760
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.18066174
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.80172798
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.61457614
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.58037823
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.50327674
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.49073385
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.43699193
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.29778175
12	P300_19829295_ChIP-Seq_ESCs_Human	2.26117023
13	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.22440244
14	FUS_26573619_Chip-Seq_HEK293_Human	2.20747354
15	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.15156900
16	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.13956078
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.10041282
18	EWS_26573619_Chip-Seq_HEK293_Human	2.00056450
19	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.98535039
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.97844351
21	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.96739161
22	STAT3_23295773_ChIP-Seq_U87_Human	1.86379135
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.84115140
24	SMAD4_21799915_ChIP-Seq_A2780_Human	1.83851157
25	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.79833903
26	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.77017525
27	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.73251495
28	CBP_20019798_ChIP-Seq_JUKART_Human	1.73251495
29	BCAT_22108803_ChIP-Seq_LS180_Human	1.70020455
30	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.67143596
31	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.64744025
32	TCF4_23295773_ChIP-Seq_U87_Human	1.63087610
33	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.62724007
34	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.59805450
35	AR_25329375_ChIP-Seq_VCAP_Human	1.56599747
36	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.54441732
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.54012716
38	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.50317978
39	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.49566632
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.49162736
41	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.48669409
42	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.48517685
43	TCF4_22108803_ChIP-Seq_LS180_Human	1.44579550
44	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.43672864
45	SOX2_19829295_ChIP-Seq_ESCs_Human	1.42938921
46	NANOG_19829295_ChIP-Seq_ESCs_Human	1.42938921
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.41444258
48	RUNX2_22187159_ChIP-Seq_PCA_Human	1.41160204
49	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.40860506
50	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.39370775
51	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.38225197
52	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.38225197
53	TP53_22573176_ChIP-Seq_HFKS_Human	1.37101407
54	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.36897449
55	AR_21572438_ChIP-Seq_LNCaP_Human	1.36606669
56	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.35145386
57	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.32998188
58	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.32679983
59	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.32519820
60	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.32167546
61	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.32139692
62	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.29651077
63	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.29386105
64	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.28935082
65	IRF1_19129219_ChIP-ChIP_H3396_Human	1.28891474
66	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.22299634
67	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.21926145
68	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.21821227
69	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.20982935
70	RNF2_27304074_Chip-Seq_NSC_Mouse	1.20694169
71	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.17882752
72	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.17478198
73	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.17457621
74	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.17325442
75	CDX2_22108803_ChIP-Seq_LS180_Human	1.17287727
76	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15538919
77	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.13571394
78	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.13571394
79	P53_22387025_ChIP-Seq_ESCs_Mouse	1.13087462
80	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.12490765
81	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.08588331
82	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.07717606
83	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.07397042
84	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.04800286
85	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.04541291
86	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.04087106
87	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.02759942
88	REST_21632747_ChIP-Seq_MESCs_Mouse	1.02550545
89	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.01587419
90	P300_18555785_Chip-Seq_ESCs_Mouse	1.01172058
91	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.00495216
92	JUN_21703547_ChIP-Seq_K562_Human	1.00451373
93	AR_20517297_ChIP-Seq_VCAP_Human	0.99766523
94	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99490154
95	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.99213053
96	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	0.99013116
97	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.98757620
98	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.98492285
99	HOXB7_26014856_ChIP-Seq_BT474_Human	0.97956619
100	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.97302225

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.51292116
2	MP0000569_abnormal_digit_pigmentation	3.27487672
3	MP0002736_abnormal_nociception_after	2.80350684
4	MP0003195_calcinosis	2.64805212
5	MP0005551_abnormal_eye_electrophysiolog	2.60559961
6	MP0001968_abnormal_touch/_nociception	2.49063291
7	MP0002837_dystrophic_cardiac_calcinosis	2.48176871
8	MP0003136_yellow_coat_color	2.35558785
9	MP0004147_increased_porphyrin_level	2.31412050
10	MP0008057_abnormal_DNA_replication	2.20247839
11	MP0003880_abnormal_central_pattern	2.06994149
12	MP0000372_irregular_coat_pigmentation	1.99467364
13	MP0002938_white_spotting	1.96666880
14	MP0002102_abnormal_ear_morphology	1.95169454
15	MP0005410_abnormal_fertilization	1.92858836
16	MP0005253_abnormal_eye_physiology	1.87115002
17	MP0003718_maternal_effect	1.83414723
18	MP0000427_abnormal_hair_cycle	1.81118346
19	MP0001984_abnormal_olfaction	1.78898358
20	MP0009046_muscle_twitch	1.78511268
21	MP0008872_abnormal_physiological_respon	1.77233290
22	MP0006292_abnormal_olfactory_placode	1.75266127
23	MP0006276_abnormal_autonomic_nervous	1.74097887
24	MP0005171_absent_coat_pigmentation	1.72162797
25	MP0008058_abnormal_DNA_repair	1.67221783
26	MP0001501_abnormal_sleep_pattern	1.65539492
27	MP0005645_abnormal_hypothalamus_physiol	1.57975865
28	MP0003646_muscle_fatigue	1.57946370
29	MP0002653_abnormal_ependyma_morphology	1.57181386
30	MP0003698_abnormal_male_reproductive	1.56933193
31	MP0001929_abnormal_gametogenesis	1.54226392
32	MP0006072_abnormal_retinal_apoptosis	1.50486228
33	MP0009745_abnormal_behavioral_response	1.49603441
34	MP0008995_early_reproductive_senescence	1.49387824
35	MP0001486_abnormal_startle_reflex	1.49322562
36	MP0003890_abnormal_embryonic-extraembry	1.48041341
37	MP0002735_abnormal_chemical_nociception	1.47057685
38	MP0000631_abnormal_neuroendocrine_gland	1.46461143
39	MP0004043_abnormal_pH_regulation	1.45789541
40	MP0005646_abnormal_pituitary_gland	1.42727384
41	MP0002272_abnormal_nervous_system	1.37872651
42	MP0002210_abnormal_sex_determination	1.34519472
43	MP0005174_abnormal_tail_pigmentation	1.30715123
44	MP0005075_abnormal_melanosome_morpholog	1.26945668
45	MP0004142_abnormal_muscle_tone	1.25483623
46	MP0002095_abnormal_skin_pigmentation	1.22661250
47	MP0000653_abnormal_sex_gland	1.19530684
48	MP0002160_abnormal_reproductive_system	1.19037856
49	MP0001485_abnormal_pinna_reflex	1.18938496
50	MP0001764_abnormal_homeostasis	1.18774011
51	MP0002138_abnormal_hepatobiliary_system	1.18560116
52	MP0002234_abnormal_pharynx_morphology	1.17839123
53	MP0001529_abnormal_vocalization	1.16004640
54	MP0003787_abnormal_imprinting	1.15669722
55	MP0001986_abnormal_taste_sensitivity	1.15446505
56	MP0008789_abnormal_olfactory_epithelium	1.14461631
57	MP0000383_abnormal_hair_follicle	1.14458223
58	MP0009697_abnormal_copulation	1.10879187
59	MP0002229_neurodegeneration	1.09404606
60	MP0001145_abnormal_male_reproductive	1.07986895
61	MP0000647_abnormal_sebaceous_gland	1.07020016
62	MP0002876_abnormal_thyroid_physiology	1.06686136
63	MP0004924_abnormal_behavior	1.06653321
64	MP0005386_behavior/neurological_phenoty	1.06653321
65	MP0002163_abnormal_gland_morphology	1.05933671
66	MP0002067_abnormal_sensory_capabilities	1.04939587
67	MP0002557_abnormal_social/conspecific_i	1.01965895
68	MP0004885_abnormal_endolymph	1.01118633
69	MP0002572_abnormal_emotion/affect_behav	0.99559130
70	MP0005379_endocrine/exocrine_gland_phen	0.98591989
71	MP0003950_abnormal_plasma_membrane	0.98558147
72	MP0002751_abnormal_autonomic_nervous	0.98548978
73	MP0001970_abnormal_pain_threshold	0.98345885
74	MP0005395_other_phenotype	0.95109049
75	MP0001963_abnormal_hearing_physiology	0.93819583
76	MP0004215_abnormal_myocardial_fiber	0.92867663
77	MP0002733_abnormal_thermal_nociception	0.91402908
78	MP0003183_abnormal_peptide_metabolism	0.91148170
79	MP0003635_abnormal_synaptic_transmissio	0.90152020
80	MP0005377_hearing/vestibular/ear_phenot	0.88529717
81	MP0003878_abnormal_ear_physiology	0.88529717
82	MP0002064_seizures	0.88466616
83	MP0005389_reproductive_system_phenotype	0.86925067
84	MP0005670_abnormal_white_adipose	0.85748151
85	MP0005499_abnormal_olfactory_system	0.84007482
86	MP0005394_taste/olfaction_phenotype	0.84007482
87	MP0006054_spinal_hemorrhage	0.83095467
88	MP0008875_abnormal_xenobiotic_pharmacok	0.82431474
89	MP0005085_abnormal_gallbladder_physiolo	0.81377484
90	MP0005195_abnormal_posterior_eye	0.81213920
91	MP0010386_abnormal_urinary_bladder	0.81033775
92	MP0002254_reproductive_system_inflammat	0.80288716
93	MP0004133_heterotaxia	0.79483409
94	MP0001119_abnormal_female_reproductive	0.79274904
95	MP0005187_abnormal_penis_morphology	0.78709434
96	MP0002752_abnormal_somatic_nervous	0.78187784
97	MP0002638_abnormal_pupillary_reflex	0.77957406
98	MP0010094_abnormal_chromosome_stability	0.77172821
99	MP0002161_abnormal_fertility/fecundity	0.76482014
100	MP0003011_delayed_dark_adaptation	0.76346392

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.26483395
2	Pancreatic fibrosis (HP:0100732)	3.94472658
3	True hermaphroditism (HP:0010459)	3.69407955
4	Abnormality of midbrain morphology (HP:0002418)	3.61744990
5	Molar tooth sign on MRI (HP:0002419)	3.61744990
6	Nephronophthisis (HP:0000090)	3.57227909
7	Abnormality of the renal medulla (HP:0100957)	3.21073973
8	Type II lissencephaly (HP:0007260)	3.20195644
9	Attenuation of retinal blood vessels (HP:0007843)	3.19783022
10	Chronic hepatic failure (HP:0100626)	3.19267646
11	Abnormality of the renal cortex (HP:0011035)	3.17882037
12	Gaze-evoked nystagmus (HP:0000640)	3.09654116
13	Congenital stationary night blindness (HP:0007642)	3.04139639
14	Medial flaring of the eyebrow (HP:0010747)	3.01706905
15	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.00961352
16	Absent/shortened dynein arms (HP:0200106)	3.00961352
17	Hyperventilation (HP:0002883)	2.82935419
18	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.73877337
19	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.64837946
20	Abnormal ciliary motility (HP:0012262)	2.62572572
21	Cystic liver disease (HP:0006706)	2.61971675
22	Bony spicule pigmentary retinopathy (HP:0007737)	2.61663556
23	Cerebellar dysplasia (HP:0007033)	2.61593280
24	Gait imbalance (HP:0002141)	2.58713024
25	Tubulointerstitial nephritis (HP:0001970)	2.58522406
26	Congenital primary aphakia (HP:0007707)	2.57239434
27	Abnormality of the labia minora (HP:0012880)	2.49243436
28	Nephrogenic diabetes insipidus (HP:0009806)	2.48699310
29	Abolished electroretinogram (ERG) (HP:0000550)	2.41918446
30	Renal cortical cysts (HP:0000803)	2.40590908
31	Genital tract atresia (HP:0001827)	2.32511505
32	Congenital sensorineural hearing impairment (HP:0008527)	2.28173636
33	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.28059709
34	Protruding tongue (HP:0010808)	2.27123840
35	Bile duct proliferation (HP:0001408)	2.24031866
36	Abnormal biliary tract physiology (HP:0012439)	2.24031866
37	Progressive cerebellar ataxia (HP:0002073)	2.22815389
38	Abnormal respiratory motile cilium morphology (HP:0005938)	2.20432013
39	Abnormal respiratory epithelium morphology (HP:0012253)	2.20432013
40	Lissencephaly (HP:0001339)	2.17663954
41	Abnormal respiratory motile cilium physiology (HP:0012261)	2.17419450
42	Tubular atrophy (HP:0000092)	2.17059993
43	Vaginal atresia (HP:0000148)	2.15466776
44	Oligodactyly (hands) (HP:0001180)	2.15167949
45	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.14722708
46	Postaxial foot polydactyly (HP:0001830)	2.14517050
47	Retinal dysplasia (HP:0007973)	2.13337174
48	Hypothermia (HP:0002045)	2.12862191
49	Hypoplastic iliac wings (HP:0002866)	2.11423337
50	Sclerocornea (HP:0000647)	2.11334733
51	Anencephaly (HP:0002323)	2.10968486
52	Intestinal atresia (HP:0011100)	2.10822210
53	Congenital hepatic fibrosis (HP:0002612)	2.10753263
54	Abnormality of alanine metabolism (HP:0010916)	2.10713293
55	Hyperalaninemia (HP:0003348)	2.10713293
56	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.10713293
57	Pendular nystagmus (HP:0012043)	2.09928335
58	Chromsome breakage (HP:0040012)	2.08575305
59	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.06890864
60	Abnormal rod and cone electroretinograms (HP:0008323)	2.06599714
61	Febrile seizures (HP:0002373)	2.04989367
62	Progressive inability to walk (HP:0002505)	2.03794523
63	Tubulointerstitial abnormality (HP:0001969)	2.01014475
64	Focal motor seizures (HP:0011153)	2.00760655
65	Fair hair (HP:0002286)	1.99430632
66	Increased corneal curvature (HP:0100692)	1.99059244
67	Keratoconus (HP:0000563)	1.99059244
68	Abnormal drinking behavior (HP:0030082)	1.97954747
69	Polydipsia (HP:0001959)	1.97954747
70	Large for gestational age (HP:0001520)	1.96525099
71	Abnormality of macular pigmentation (HP:0008002)	1.96312544
72	Astigmatism (HP:0000483)	1.93168661
73	Small hand (HP:0200055)	1.92059781
74	Absent speech (HP:0001344)	1.91751394
75	Inability to walk (HP:0002540)	1.90068752
76	Sloping forehead (HP:0000340)	1.89647574
77	Supernumerary spleens (HP:0009799)	1.89080267
78	Decreased circulating renin level (HP:0003351)	1.87653401
79	Abnormality of the renal collecting system (HP:0004742)	1.87625582
80	Methylmalonic acidemia (HP:0002912)	1.86114246
81	Preaxial hand polydactyly (HP:0001177)	1.85295770
82	Short tibia (HP:0005736)	1.85178941
83	Focal seizures (HP:0007359)	1.85105879
84	Disproportionate short-trunk short stature (HP:0003521)	1.84181613
85	Postaxial hand polydactyly (HP:0001162)	1.84061639
86	Abnormality of chromosome stability (HP:0003220)	1.83956331
87	Male pseudohermaphroditism (HP:0000037)	1.83424130
88	Widely spaced teeth (HP:0000687)	1.82805102
89	Poor coordination (HP:0002370)	1.80276261
90	Furrowed tongue (HP:0000221)	1.79507839
91	Hemiparesis (HP:0001269)	1.78640581
92	Genetic anticipation (HP:0003743)	1.78506939
93	Colon cancer (HP:0003003)	1.77348628
94	Aganglionic megacolon (HP:0002251)	1.76436477
95	Abnormality of the ileum (HP:0001549)	1.76022754
96	Duplicated collecting system (HP:0000081)	1.75201408
97	Severe visual impairment (HP:0001141)	1.75107645
98	Polyuria (HP:0000103)	1.74552519
99	Retinitis pigmentosa (HP:0000510)	1.74088504
100	Constricted visual fields (HP:0001133)	1.74016138

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.35028061
2	MAP4K2	3.73825261
3	ACVR1B	2.98687123
4	BMPR1B	2.93938516
5	NUAK1	2.81597525
6	INSRR	2.64288797
7	ADRBK2	2.48935077
8	MAP3K4	2.41462782
9	LATS1	2.35018722
10	STK38L	2.22393506
11	WNK3	2.06134656
12	ZAK	1.83174327
13	MAPK13	1.82929546
14	GRK1	1.79198859
15	OXSR1	1.66867544
16	TRIM28	1.61031360
17	TNIK	1.60873932
18	STK39	1.58207997
19	TAOK3	1.50289198
20	NTRK3	1.49414526
21	PDK2	1.42250601
22	CASK	1.39601889
23	STK3	1.39023605
24	PINK1	1.33324500
25	PLK4	1.30711994
26	WNK4	1.27628741
27	PIK3CG	1.25975623
28	MARK1	1.24990750
29	MKNK2	1.23662754
30	EIF2AK3	1.23217663
31	EPHA4	1.19024638
32	BRSK2	1.13277375
33	ADRBK1	1.10133620
34	CDK19	1.09975224
35	AKT3	1.06773688
36	BCR	1.04996015
37	PLK2	1.04466666
38	PTK2B	1.00035272
39	PAK3	0.99258314
40	MST4	0.94737607
41	MAP2K7	0.93760301
42	CSNK1G1	0.93285833
43	CSNK1G2	0.87785981
44	MKNK1	0.84986182
45	CSNK1A1L	0.82577729
46	ERBB3	0.82283463
47	PRKCE	0.80730144
48	NLK	0.79675805
49	CSNK1G3	0.72262132
50	DAPK2	0.71418806
51	IRAK1	0.70586144
52	VRK1	0.69124319
53	FGFR2	0.68690073
54	PRKCG	0.68448572
55	DYRK2	0.63473898
56	TNK2	0.61956195
57	TGFBR1	0.60775737
58	FER	0.59155721
59	GRK7	0.58892725
60	PLK1	0.57687513
61	PLK3	0.56888697
62	BCKDK	0.55915137
63	TEC	0.52952024
64	MAP3K2	0.50402347
65	MUSK	0.49594830
66	TXK	0.49151389
67	CAMKK2	0.48553959
68	TIE1	0.48277460
69	EPHA3	0.48263664
70	CAMK2A	0.47952353
71	DYRK3	0.47370368
72	NTRK2	0.43967679
73	ATM	0.43633957
74	STK38	0.42413665
75	ATR	0.41757224
76	CDC7	0.40693266
77	PRKAA2	0.40288142
78	CSNK1D	0.39170953
79	PRKACB	0.38905792
80	PRKG1	0.38732451
81	DYRK1A	0.38588481
82	PRKACA	0.37892432
83	OBSCN	0.36712780
84	GRK5	0.35721491
85	PKN1	0.34155817
86	PBK	0.33156454
87	CSNK1A1	0.31903007
88	MAP2K1	0.30284043
89	BRD4	0.30105005
90	EIF2AK1	0.29466988
91	CHEK2	0.28770147
92	YES1	0.27534661
93	NEK6	0.25159392
94	SGK2	0.24590611
95	STK11	0.23908722
96	PHKG2	0.23882752
97	PHKG1	0.23882752
98	MARK3	0.22510376
99	PRKCI	0.22387895
100	PRKCQ	0.22313808

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.93146572
2	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.85834173
3	Butanoate metabolism_Homo sapiens_hsa00650	2.72502930
4	Nicotine addiction_Homo sapiens_hsa05033	2.56018681
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.39819800
6	Homologous recombination_Homo sapiens_hsa03440	2.31601286
7	Basal transcription factors_Homo sapiens_hsa03022	2.31352830
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.28425208
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.08877594
10	Linoleic acid metabolism_Homo sapiens_hsa00591	2.05558055
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.02901144
12	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.92132986
13	Nitrogen metabolism_Homo sapiens_hsa00910	1.90415040
14	ABC transporters_Homo sapiens_hsa02010	1.89045108
15	Taste transduction_Homo sapiens_hsa04742	1.88750435
16	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.86933000
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.82810828
18	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.82069258
19	Olfactory transduction_Homo sapiens_hsa04740	1.76717697
20	Propanoate metabolism_Homo sapiens_hsa00640	1.69797424
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.68348747
22	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.67359173
23	Selenocompound metabolism_Homo sapiens_hsa00450	1.63744855
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.62915346
25	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.62817885
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.60181176
27	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.53881392
28	Non-homologous end-joining_Homo sapiens_hsa03450	1.51363451
29	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.42395297
30	Morphine addiction_Homo sapiens_hsa05032	1.40294038
31	Protein export_Homo sapiens_hsa03060	1.37447679
32	Caffeine metabolism_Homo sapiens_hsa00232	1.33099930
33	Retinol metabolism_Homo sapiens_hsa00830	1.31878236
34	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.30529573
35	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.30516085
36	Peroxisome_Homo sapiens_hsa04146	1.23559570
37	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.19070271
38	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.18949500
39	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.18479390
40	Chemical carcinogenesis_Homo sapiens_hsa05204	1.18102398
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.15431095
42	RNA degradation_Homo sapiens_hsa03018	1.15336261
43	One carbon pool by folate_Homo sapiens_hsa00670	1.14643376
44	GABAergic synapse_Homo sapiens_hsa04727	1.14134990
45	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.12366465
46	Serotonergic synapse_Homo sapiens_hsa04726	1.10093585
47	Circadian entrainment_Homo sapiens_hsa04713	1.04123809
48	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.01017477
49	beta-Alanine metabolism_Homo sapiens_hsa00410	1.00585650
50	Regulation of autophagy_Homo sapiens_hsa04140	1.00144850
51	RNA polymerase_Homo sapiens_hsa03020	0.99733559
52	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.96338066
53	Sphingolipid metabolism_Homo sapiens_hsa00600	0.94851694
54	Glutamatergic synapse_Homo sapiens_hsa04724	0.92949937
55	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.91077112
56	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.89263391
57	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.87745786
58	Circadian rhythm_Homo sapiens_hsa04710	0.85716691
59	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.85506585
60	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.84401898
61	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.82337959
62	Insulin secretion_Homo sapiens_hsa04911	0.80199170
63	Calcium signaling pathway_Homo sapiens_hsa04020	0.79641298
64	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.75147459
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.74939238
66	Fatty acid metabolism_Homo sapiens_hsa01212	0.74743623
67	Collecting duct acid secretion_Homo sapiens_hsa04966	0.71651556
68	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.70730013
69	Steroid biosynthesis_Homo sapiens_hsa00100	0.70185522
70	Mismatch repair_Homo sapiens_hsa03430	0.68559653
71	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.67991795
72	Purine metabolism_Homo sapiens_hsa00230	0.67977935
73	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.66924756
74	Fatty acid degradation_Homo sapiens_hsa00071	0.63873341
75	Salivary secretion_Homo sapiens_hsa04970	0.63630203
76	Lysine degradation_Homo sapiens_hsa00310	0.63499101
77	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.62712349
78	Huntingtons disease_Homo sapiens_hsa05016	0.62141753
79	Metabolic pathways_Homo sapiens_hsa01100	0.60813488
80	Long-term depression_Homo sapiens_hsa04730	0.60313722
81	Sulfur metabolism_Homo sapiens_hsa00920	0.56837202
82	Oocyte meiosis_Homo sapiens_hsa04114	0.55463500
83	Oxidative phosphorylation_Homo sapiens_hsa00190	0.54866617
84	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.54792441
85	Glutathione metabolism_Homo sapiens_hsa00480	0.54147717
86	Fat digestion and absorption_Homo sapiens_hsa04975	0.50239725
87	RNA transport_Homo sapiens_hsa03013	0.50155000
88	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.49145125
89	Histidine metabolism_Homo sapiens_hsa00340	0.47935049
90	Dopaminergic synapse_Homo sapiens_hsa04728	0.47849896
91	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.46266598
92	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.45399121
93	Nucleotide excision repair_Homo sapiens_hsa03420	0.44665009
94	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.44222749
95	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.42287185
96	Parkinsons disease_Homo sapiens_hsa05012	0.37309224
97	cAMP signaling pathway_Homo sapiens_hsa04024	0.37174378
98	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.36732513
99	Mineral absorption_Homo sapiens_hsa04978	0.36260776
100	Base excision repair_Homo sapiens_hsa03410	0.34777773

C12ORF40

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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