ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	8.92081505
2	sperm motility (GO:0030317)	7.89115499
3	acrosome reaction (GO:0007340)	7.14914854
4	fusion of sperm to egg plasma membrane (GO:0007342)	6.83644194
5	multicellular organism reproduction (GO:0032504)	6.41430715
6	sperm capacitation (GO:0048240)	6.01939658
7	single strand break repair (GO:0000012)	5.92803143
8	rRNA methylation (GO:0031167)	5.77162238
9	protein targeting to Golgi (GO:0000042)	5.75649183
10	establishment of protein localization to Golgi (GO:0072600)	5.70367230
11	sperm-egg recognition (GO:0035036)	5.56301666
12	centriole replication (GO:0007099)	5.52362040
13	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	5.37717246
14	protein polyglutamylation (GO:0018095)	5.23904705
15	retrograde transport, vesicle recycling within Golgi (GO:0000301)	5.23692818
16	plasma membrane fusion (GO:0045026)	5.17195210
17	microtubule depolymerization (GO:0007019)	5.07492917
18	spermatid development (GO:0007286)	4.96516017
19	reproduction (GO:0000003)	4.88906152
20	chromosome condensation (GO:0030261)	4.71981774
21	rRNA modification (GO:0000154)	4.70157327
22	cell-cell recognition (GO:0009988)	4.65466503
23	DNA packaging (GO:0006323)	4.59052395
24	spermatid nucleus differentiation (GO:0007289)	4.55129672
25	regulation of cilium movement (GO:0003352)	4.54292907
26	protein localization to Golgi apparatus (GO:0034067)	4.47209131
27	microtubule polymerization or depolymerization (GO:0031109)	4.38880007
28	binding of sperm to zona pellucida (GO:0007339)	4.26425220
29	negative regulation of Rho protein signal transduction (GO:0035024)	4.23547737
30	acrosome assembly (GO:0001675)	4.12991223
31	centriole assembly (GO:0098534)	4.09516569
32	axonemal dynein complex assembly (GO:0070286)	4.01289390
33	epithelial cilium movement (GO:0003351)	3.99591130
34	RNA destabilization (GO:0050779)	3.85225440
35	spermatogenesis (GO:0007283)	3.84838832
36	male gamete generation (GO:0048232)	3.84596602
37	regulation of centriole replication (GO:0046599)	3.83552889
38	cellular ketone body metabolic process (GO:0046950)	3.81663177
39	calcium ion-dependent exocytosis (GO:0017156)	3.80503686
40	cilium or flagellum-dependent cell motility (GO:0001539)	3.80228087
41	retinal cone cell development (GO:0046549)	3.60612646
42	single fertilization (GO:0007338)	3.60535368
43	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.58930772
44	phosphatidylethanolamine metabolic process (GO:0046337)	3.58009656
45	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.54812060
46	gamete generation (GO:0007276)	3.52308142
47	ketone body metabolic process (GO:1902224)	3.45784007
48	histone mRNA catabolic process (GO:0071044)	3.43720084
49	organic cation transport (GO:0015695)	3.37274829
50	detection of light stimulus involved in visual perception (GO:0050908)	3.36724455
51	detection of light stimulus involved in sensory perception (GO:0050962)	3.36724455
52	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	3.34679974
53	axoneme assembly (GO:0035082)	3.25511332
54	positive regulation of Rab GTPase activity (GO:0032851)	3.25167388
55	regulation of Rab GTPase activity (GO:0032313)	3.25167388
56	positive regulation of inositol phosphate biosynthetic process (GO:0060732)	3.20877463
57	cilium movement (GO:0003341)	3.09399161
58	piRNA metabolic process (GO:0034587)	3.06962824
59	DNA methylation involved in gamete generation (GO:0043046)	3.06581265
60	behavioral response to ethanol (GO:0048149)	3.00295251
61	cAMP catabolic process (GO:0006198)	2.98713708
62	cell wall macromolecule catabolic process (GO:0016998)	2.98357550
63	regulation of microtubule-based movement (GO:0060632)	2.96743567
64	cyclic nucleotide catabolic process (GO:0009214)	2.96490480
65	neural tube formation (GO:0001841)	2.92557447
66	motile cilium assembly (GO:0044458)	2.92476282
67	male meiosis (GO:0007140)	2.89883752
68	cell wall macromolecule metabolic process (GO:0044036)	2.87370292
69	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.86633915
70	microtubule nucleation (GO:0007020)	2.85467109
71	fertilization (GO:0009566)	2.84344424
72	negative regulation of inclusion body assembly (GO:0090084)	2.83566289
73	germ cell development (GO:0007281)	2.83084765
74	cilium organization (GO:0044782)	2.82962581
75	ventricular system development (GO:0021591)	2.82481057
76	regulation of transcription involved in cell fate commitment (GO:0060850)	2.79060654
77	multicellular organismal reproductive process (GO:0048609)	2.77357908
78	regulation of meiosis I (GO:0060631)	2.75726959
79	rhodopsin mediated signaling pathway (GO:0016056)	2.75382057
80	cellular process involved in reproduction in multicellular organism (GO:0022412)	2.75064231
81	photoreceptor cell development (GO:0042461)	2.72203861
82	cilium assembly (GO:0042384)	2.71693207
83	cilium morphogenesis (GO:0060271)	2.70137107
84	cell recognition (GO:0008037)	2.64171611
85	Golgi to endosome transport (GO:0006895)	2.63787666
86	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.62902208
87	regulation of mesoderm development (GO:2000380)	2.62098853
88	regulation of uterine smooth muscle contraction (GO:0070472)	2.61304871
89	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.60302351
90	hepatocyte apoptotic process (GO:0097284)	2.60069071
91	cerebral cortex neuron differentiation (GO:0021895)	2.59422504
92	musculoskeletal movement (GO:0050881)	2.55666101
93	multicellular organismal movement (GO:0050879)	2.55666101
94	tachykinin receptor signaling pathway (GO:0007217)	2.53319242
95	tooth mineralization (GO:0034505)	2.51850769
96	protein K11-linked deubiquitination (GO:0035871)	2.51378293
97	seminiferous tubule development (GO:0072520)	2.50682519
98	eye photoreceptor cell development (GO:0042462)	2.49536189
99	neuronal action potential (GO:0019228)	2.49373109
100	protein-chromophore linkage (GO:0018298)	2.48131128

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.04840465
2	FUS_26573619_Chip-Seq_HEK293_Human	2.90277588
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.61425389
4	TAF15_26573619_Chip-Seq_HEK293_Human	2.51967252
5	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.48959077
6	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.43509201
7	P300_19829295_ChIP-Seq_ESCs_Human	2.31752903
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.29545530
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.26075493
10	CBP_20019798_ChIP-Seq_JUKART_Human	2.23432601
11	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.23432601
12	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.21658401
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.15107781
14	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	2.14222094
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.11165860
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.08927152
17	EZH2_22144423_ChIP-Seq_EOC_Human	2.07130813
18	ER_23166858_ChIP-Seq_MCF-7_Human	2.05202084
19	EWS_26573619_Chip-Seq_HEK293_Human	1.93832757
20	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.92117193
21	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.89352323
22	AR_25329375_ChIP-Seq_VCAP_Human	1.86772261
23	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.80260188
24	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.80260188
25	SMAD4_21799915_ChIP-Seq_A2780_Human	1.77930587
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.74431294
27	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.72867446
28	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.67772702
29	STAT3_23295773_ChIP-Seq_U87_Human	1.66691030
30	IGF1R_20145208_ChIP-Seq_DFB_Human	1.66164068
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.63265479
32	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.56671505
33	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.56437985
34	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.54585894
35	TP53_18474530_ChIP-ChIP_U2OS_Human	1.54098807
36	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.53807256
37	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.51513163
38	* RUNX2_22187159_ChIP-Seq_PCA_Human	1.49299987
39	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.47511275
40	NANOG_19829295_ChIP-Seq_ESCs_Human	1.47113483
41	SOX2_19829295_ChIP-Seq_ESCs_Human	1.47113483
42	BCAT_22108803_ChIP-Seq_LS180_Human	1.43569929
43	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.42781154
44	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.42078968
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41884849
46	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.40565303
47	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.40274504
48	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.39283742
49	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.36985781
50	* TCF4_23295773_ChIP-Seq_U87_Human	1.36136218
51	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.34737325
52	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.33858994
53	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.33661917
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.29936526
55	TBL1_22424771_ChIP-Seq_293T_Human	1.29717674
56	NFYB_21822215_ChIP-Seq_K562_Human	1.29340414
57	ETV1_20927104_ChIP-Seq_GIST48_Human	1.29185153
58	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.27504271
59	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25765441
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.25466765
61	CDX2_22108803_ChIP-Seq_LS180_Human	1.25100681
62	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.25066750
63	IRF1_19129219_ChIP-ChIP_H3396_Human	1.24537573
64	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.24285300
65	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.23749558
66	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.23682392
67	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.23184578
68	NFYA_21822215_ChIP-Seq_K562_Human	1.22606036
69	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.20736152
70	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.20258080
71	CJUN_26792858_Chip-Seq_BT549_Human	1.18653327
72	RBPJ_21746931_ChIP-Seq_IB4_Human	1.18651214
73	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.18414111
74	PHF8_20622853_ChIP-Seq_HELA_Human	1.16739539
75	KDM2B_26808549_Chip-Seq_REH_Human	1.15933836
76	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.15798899
77	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.15395735
78	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.13587620
79	HOXB7_26014856_ChIP-Seq_BT474_Human	1.12892047
80	RNF2_27304074_Chip-Seq_NSC_Mouse	1.11824183
81	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.11785502
82	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.11574036
83	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.11574036
84	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.11165710
85	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.11006897
86	P53_22387025_ChIP-Seq_ESCs_Mouse	1.10963541
87	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.10902525
88	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.10678571
89	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.09894223
90	AR_21572438_ChIP-Seq_LNCaP_Human	1.09418772
91	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.08763362
92	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.08359970
93	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.07873774
94	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.07760131
95	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.07704190
96	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.06335492
97	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05320319
98	* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.04366038
99	NCOR_22424771_ChIP-Seq_293T_Human	1.04329347
100	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01013573

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	6.80295167
2	MP0003646_muscle_fatigue	3.14094656
3	MP0005670_abnormal_white_adipose	3.11286813
4	MP0005377_hearing/vestibular/ear_phenot	3.05847043
5	MP0003878_abnormal_ear_physiology	3.05847043
6	MP0003698_abnormal_male_reproductive	2.89645712
7	MP0000569_abnormal_digit_pigmentation	2.75563056
8	MP0005503_abnormal_tendon_morphology	2.61190986
9	MP0001929_abnormal_gametogenesis	2.58771702
10	MP0008877_abnormal_DNA_methylation	2.53870041
11	MP0005253_abnormal_eye_physiology	2.44458562
12	MP0002928_abnormal_bile_duct	2.39319656
13	MP0005551_abnormal_eye_electrophysiolog	2.35874963
14	MP0001348_abnormal_lacrimal_gland	2.17146623
15	MP0002638_abnormal_pupillary_reflex	2.09838429
16	MP0005379_endocrine/exocrine_gland_phen	2.05484206
17	MP0003011_delayed_dark_adaptation	2.00204213
18	MP0003136_yellow_coat_color	1.96693219
19	MP0003787_abnormal_imprinting	1.96338510
20	MP0001485_abnormal_pinna_reflex	1.94461838
21	MP0003252_abnormal_bile_duct	1.86703998
22	MP0003880_abnormal_central_pattern	1.76229732
23	MP0002102_abnormal_ear_morphology	1.73005606
24	MP0000372_irregular_coat_pigmentation	1.72726720
25	MP0005310_abnormal_salivary_gland	1.72029425
26	MP0002163_abnormal_gland_morphology	1.69976969
27	MP0003718_maternal_effect	1.69534578
28	MP0000427_abnormal_hair_cycle	1.55354165
29	MP0002210_abnormal_sex_determination	1.48915971
30	MP0001968_abnormal_touch/_nociception	1.45059850
31	MP0002161_abnormal_fertility/fecundity	1.40791510
32	MP0002132_abnormal_respiratory_system	1.33223714
33	MP0002938_white_spotting	1.31319883
34	MP0002234_abnormal_pharynx_morphology	1.31248504
35	MP0001984_abnormal_olfaction	1.27515180
36	MP0000653_abnormal_sex_gland	1.25686056
37	MP0003195_calcinosis	1.25096259
38	MP0004742_abnormal_vestibular_system	1.24068796
39	MP0009046_muscle_twitch	1.22831517
40	MP0003950_abnormal_plasma_membrane	1.22532677
41	MP0002272_abnormal_nervous_system	1.20778352
42	MP0002876_abnormal_thyroid_physiology	1.19888513
43	MP0001145_abnormal_male_reproductive	1.18972802
44	MP0005423_abnormal_somatic_nervous	1.18249092
45	MP0001486_abnormal_startle_reflex	1.17878403
46	MP0004215_abnormal_myocardial_fiber	1.17195706
47	MP0005391_vision/eye_phenotype	1.16440017
48	MP0004133_heterotaxia	1.13661846
49	MP0006072_abnormal_retinal_apoptosis	1.12992651
50	MP0005174_abnormal_tail_pigmentation	1.12115322
51	MP0006292_abnormal_olfactory_placode	1.11782060
52	MP0000026_abnormal_inner_ear	1.10968857
53	MP0009745_abnormal_behavioral_response	1.02388433
54	MP0001764_abnormal_homeostasis	1.00316581
55	MP0005195_abnormal_posterior_eye	0.99591631
56	MP0005367_renal/urinary_system_phenotyp	0.95159143
57	MP0000516_abnormal_urinary_system	0.95159143
58	MP0000015_abnormal_ear_pigmentation	0.94543863
59	MP0002837_dystrophic_cardiac_calcinosis	0.94441945
60	MP0001963_abnormal_hearing_physiology	0.94054653
61	MP0005395_other_phenotype	0.93255318
62	MP0002282_abnormal_trachea_morphology	0.93213559
63	MP0009764_decreased_sensitivity_to	0.91312224
64	MP0002138_abnormal_hepatobiliary_system	0.91295963
65	MP0000230_abnormal_systemic_arterial	0.88226130
66	MP0004142_abnormal_muscle_tone	0.87542980
67	MP0001324_abnormal_eye_pigmentation	0.86489378
68	MP0009697_abnormal_copulation	0.85773230
69	MP0003119_abnormal_digestive_system	0.85588608
70	MP0002752_abnormal_somatic_nervous	0.84823125
71	MP0002229_neurodegeneration	0.84433703
72	MP0002067_abnormal_sensory_capabilities	0.82675689
73	MP0004085_abnormal_heartbeat	0.81933265
74	MP0002108_abnormal_muscle_morphology	0.80251840
75	MP0002254_reproductive_system_inflammat	0.80075460
76	MP0005164_abnormal_response_to	0.79889712
77	MP0008775_abnormal_heart_ventricle	0.79849485
78	MP0008872_abnormal_physiological_respon	0.78931362
79	MP0002160_abnormal_reproductive_system	0.78153273
80	MP0002557_abnormal_social/conspecific_i	0.75296944
81	MP0000470_abnormal_stomach_morphology	0.74494010
82	MP0000371_diluted_coat_color	0.73910251
83	MP0002572_abnormal_emotion/affect_behav	0.73170187
84	MP0002736_abnormal_nociception_after	0.73120274
85	MP0002653_abnormal_ependyma_morphology	0.70901790
86	MP0003937_abnormal_limbs/digits/tail_de	0.70573635
87	MP0002751_abnormal_autonomic_nervous	0.69830924
88	MP0008789_abnormal_olfactory_epithelium	0.68613823
89	MP0006276_abnormal_autonomic_nervous	0.67863349
90	MP0001501_abnormal_sleep_pattern	0.67431088
91	MP0005408_hypopigmentation	0.66655457
92	MP0002735_abnormal_chemical_nociception	0.65930615
93	MP0003943_abnormal_hepatobiliary_system	0.65443079
94	MP0003121_genomic_imprinting	0.63752181
95	MP0005084_abnormal_gallbladder_morpholo	0.63405222
96	MP0003755_abnormal_palate_morphology	0.62573102
97	MP0002109_abnormal_limb_morphology	0.62551053
98	MP0005332_abnormal_amino_acid	0.61366999
99	MP0002168_other_aberrant_phenotype	0.61334813
100	MP0000613_abnormal_salivary_gland	0.60975575

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	4.69394466
2	Attenuation of retinal blood vessels (HP:0007843)	4.28704518
3	Pancreatic fibrosis (HP:0100732)	3.98242928
4	Chronic hepatic failure (HP:0100626)	3.82911500
5	Hypoplastic ischia (HP:0003175)	3.70332123
6	Pancreatic cysts (HP:0001737)	3.69160470
7	Abnormal rod and cone electroretinograms (HP:0008323)	3.58126205
8	Abnormality of the ischium (HP:0003174)	3.46263352
9	Tubular atrophy (HP:0000092)	3.42591746
10	Bony spicule pigmentary retinopathy (HP:0007737)	3.27756765
11	Abnormality of the renal medulla (HP:0100957)	3.26036234
12	Metaphyseal dysplasia (HP:0100255)	3.21843999
13	Abnormality of midbrain morphology (HP:0002418)	3.09438359
14	Molar tooth sign on MRI (HP:0002419)	3.09438359
15	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.09050484
16	Absent/shortened dynein arms (HP:0200106)	3.09050484
17	Congenital stationary night blindness (HP:0007642)	3.04981996
18	Polydipsia (HP:0001959)	3.03932935
19	Abnormal drinking behavior (HP:0030082)	3.03932935
20	Polyuria (HP:0000103)	3.03254374
21	Enlarged epiphyses (HP:0010580)	2.98836251
22	Nephronophthisis (HP:0000090)	2.95198443
23	Tubulointerstitial abnormality (HP:0001969)	2.87949879
24	Chorioretinal atrophy (HP:0000533)	2.80739288
25	Type II lissencephaly (HP:0007260)	2.79564229
26	Abnormal urine output (HP:0012590)	2.76965682
27	True hermaphroditism (HP:0010459)	2.72125418
28	Tubulointerstitial nephritis (HP:0001970)	2.72004144
29	Tubulointerstitial fibrosis (HP:0005576)	2.68932281
30	Median cleft lip (HP:0000161)	2.64716008
31	Abnormality of macular pigmentation (HP:0008002)	2.56169212
32	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.45670700
33	Renal dysplasia (HP:0000110)	2.44018147
34	Abnormal ciliary motility (HP:0012262)	2.41654385
35	Abnormality of the renal cortex (HP:0011035)	2.41491235
36	Bell-shaped thorax (HP:0001591)	2.41111128
37	Abnormality of renal excretion (HP:0011036)	2.39536952
38	Cystic liver disease (HP:0006706)	2.38399562
39	Cone-rod dystrophy (HP:0000548)	2.32695207
40	Abnormal respiratory motile cilium physiology (HP:0012261)	2.31031773
41	Congenital sensorineural hearing impairment (HP:0008527)	2.25654776
42	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.24095445
43	Abnormal respiratory motile cilium morphology (HP:0005938)	2.23140638
44	Abnormal respiratory epithelium morphology (HP:0012253)	2.23140638
45	Abnormality of DNA repair (HP:0003254)	2.19546796
46	Decreased central vision (HP:0007663)	2.18856397
47	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.17732847
48	Optic nerve hypoplasia (HP:0000609)	2.16389065
49	Congenital hepatic fibrosis (HP:0002612)	2.15096488
50	Neonatal respiratory distress (HP:0002643)	2.13011085
51	Posterior subcapsular cataract (HP:0007787)	2.11669717
52	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.09589909
53	Subcapsular cataract (HP:0000523)	2.09046298
54	Keratoconus (HP:0000563)	2.08071504
55	Increased corneal curvature (HP:0100692)	2.08071504
56	Anterior segment dysgenesis (HP:0007700)	2.07673956
57	Impulsivity (HP:0100710)	2.07653789
58	Abnormal spermatogenesis (HP:0008669)	2.06888774
59	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.03382407
60	Potter facies (HP:0002009)	2.03137616
61	Facial shape deformation (HP:0011334)	2.03137616
62	Hyperkalemia (HP:0002153)	2.03132239
63	Abnormality of the ileum (HP:0001549)	2.02785775
64	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.99006519
65	Short tibia (HP:0005736)	1.98677357
66	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.97172599
67	Sloping forehead (HP:0000340)	1.96584526
68	Hypoproteinemia (HP:0003075)	1.95281755
69	Intellectual disability, moderate (HP:0002342)	1.93875880
70	Meckel diverticulum (HP:0002245)	1.93620640
71	Cerebellar dysplasia (HP:0007033)	1.93253828
72	Postaxial foot polydactyly (HP:0001830)	1.92603935
73	Azoospermia (HP:0000027)	1.92206972
74	Anencephaly (HP:0002323)	1.92034515
75	Amelogenesis imperfecta (HP:0000705)	1.90481237
76	Small hand (HP:0200055)	1.90060679
77	Abnormality of dental color (HP:0011073)	1.89503882
78	Retinal dysplasia (HP:0007973)	1.88116741
79	Febrile seizures (HP:0002373)	1.86825595
80	Gaze-evoked nystagmus (HP:0000640)	1.86575373
81	Astigmatism (HP:0000483)	1.84795590
82	Occipital encephalocele (HP:0002085)	1.84548328
83	Congenital malformation of the right heart (HP:0011723)	1.82638452
84	Double outlet right ventricle (HP:0001719)	1.82638452
85	Chromsome breakage (HP:0040012)	1.82448097
86	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.81883779
87	Photophobia (HP:0000613)	1.80042904
88	Aplasia/Hypoplasia of the earlobes (HP:0009906)	1.79862597
89	Type 2 muscle fiber atrophy (HP:0003554)	1.79174762
90	Gastrointestinal atresia (HP:0002589)	1.77405057
91	Bulbous nose (HP:0000414)	1.77200617
92	Fair hair (HP:0002286)	1.76511324
93	Volvulus (HP:0002580)	1.75451811
94	Hypoplasia of the thymus (HP:0000778)	1.75387505
95	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.75220667
96	Hypophosphatemic rickets (HP:0004912)	1.74626564
97	Thyroiditis (HP:0100646)	1.73472291
98	Medial flaring of the eyebrow (HP:0010747)	1.72077203
99	Scotoma (HP:0000575)	1.71659062
100	Intestinal atresia (HP:0011100)	1.69253362

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.60106137
2	PLK4	4.48496778
3	STK39	3.14179145
4	PLK2	2.88637731
5	ADRBK2	2.71712948
6	TAF1	2.61552935
7	OXSR1	2.44893748
8	BMPR1B	2.32230531
9	TRIM28	2.31218716
10	DDR2	2.25686928
11	MAP4K2	2.24633742
12	MST4	2.16058951
13	INSRR	2.03269334
14	STK38L	1.88215526
15	WNK4	1.85519228
16	PDK2	1.72035313
17	TNIK	1.69691410
18	PNCK	1.65532500
19	AKT3	1.49056301
20	MAPK15	1.46596035
21	ZAK	1.43951886
22	IRAK1	1.38046537
23	WNK3	1.34601169
24	CASK	1.30771146
25	ACVR1B	1.28511655
26	NTRK3	1.24097971
27	MUSK	1.23674007
28	GRK1	1.21720221
29	BRSK2	1.19879915
30	EPHA4	1.17434604
31	CAMK1G	1.17296301
32	PTK2B	1.15087345
33	NTRK2	1.14974651
34	IRAK2	1.12556712
35	BRD4	1.11708803
36	NUAK1	1.09071203
37	MAPK13	1.08220102
38	FGFR2	1.04904736
39	NEK6	1.04882379
40	VRK1	0.97825519
41	MKNK2	0.97780229
42	PRKD3	0.97765046
43	STK3	0.96815512
44	PKN1	0.94848034
45	PLK3	0.94487366
46	STK38	0.93887520
47	EIF2AK3	0.91388124
48	CAMK1D	0.89842409
49	PINK1	0.89108200
50	PIK3CG	0.86518736
51	CDK19	0.81032918
52	PRKCE	0.76770213
53	MST1R	0.76316821
54	TGFBR1	0.73281683
55	PAK3	0.72285370
56	PRKG1	0.71240971
57	WEE1	0.70397981
58	TRPM7	0.69041063
59	NTRK1	0.63744574
60	CDK8	0.63619061
61	NLK	0.63576686
62	PRKCG	0.57813467
63	CDK3	0.56663859
64	WNK1	0.56150751
65	ROCK1	0.53934720
66	ADRBK1	0.52584720
67	PDK1	0.52060990
68	MAP3K2	0.51831668
69	BCR	0.48272275
70	TESK1	0.46931557
71	PLK1	0.45829417
72	PDPK1	0.45766752
73	MAP3K4	0.44746507
74	ERBB3	0.44008680
75	SGK2	0.43834899
76	CAMK1	0.43232762
77	FER	0.41763517
78	KIT	0.41027688
79	NME1	0.39721402
80	BMPR2	0.39300413
81	MARK1	0.38200797
82	PRKAA1	0.37352173
83	STK11	0.34120595
84	MINK1	0.34041212
85	SGK223	0.32432938
86	SGK494	0.32432938
87	CAMK2A	0.31665811
88	PRKAA2	0.31184189
89	IKBKB	0.30326011
90	MARK3	0.29978261
91	MKNK1	0.29796694
92	SIK3	0.28774590
93	IGF1R	0.28223733
94	MAP3K7	0.28173388
95	MAPK1	0.28127177
96	PRKACA	0.26813146
97	PRKCQ	0.26790020
98	TSSK6	0.26104904
99	CCNB1	0.25583214
100	AKT1	0.24013405

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.39955447
2	Phototransduction_Homo sapiens_hsa04744	4.10005886
3	Olfactory transduction_Homo sapiens_hsa04740	3.33709152
4	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.94876928
5	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.73004536
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.50898258
7	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.28291697
8	Fanconi anemia pathway_Homo sapiens_hsa03460	2.27026608
9	Basal transcription factors_Homo sapiens_hsa03022	2.23291368
10	Butanoate metabolism_Homo sapiens_hsa00650	1.98417652
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.91137713
12	Taste transduction_Homo sapiens_hsa04742	1.89811453
13	Homologous recombination_Homo sapiens_hsa03440	1.81522704
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.77721111
15	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.74121355
16	Selenocompound metabolism_Homo sapiens_hsa00450	1.61547720
17	ABC transporters_Homo sapiens_hsa02010	1.57415435
18	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.44119617
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.43226407
20	Propanoate metabolism_Homo sapiens_hsa00640	1.35191310
21	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.34986949
22	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.33912419
23	Morphine addiction_Homo sapiens_hsa05032	1.31931450
24	RNA degradation_Homo sapiens_hsa03018	1.26109068
25	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.23273655
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.19655305
27	RNA transport_Homo sapiens_hsa03013	1.11950443
28	Regulation of autophagy_Homo sapiens_hsa04140	1.10263577
29	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.10063031
30	Glycerolipid metabolism_Homo sapiens_hsa00561	1.05325399
31	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.04552078
32	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.03385011
33	Arginine and proline metabolism_Homo sapiens_hsa00330	0.99779335
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.98429670
35	Retinol metabolism_Homo sapiens_hsa00830	0.97020864
36	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.95825249
37	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.93450341
38	Fatty acid degradation_Homo sapiens_hsa00071	0.91720562
39	Serotonergic synapse_Homo sapiens_hsa04726	0.89626429
40	Tryptophan metabolism_Homo sapiens_hsa00380	0.87287468
41	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87003490
42	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.86967494
43	Circadian entrainment_Homo sapiens_hsa04713	0.86007821
44	Salivary secretion_Homo sapiens_hsa04970	0.85132115
45	Calcium signaling pathway_Homo sapiens_hsa04020	0.84730751
46	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.84640146
47	Ether lipid metabolism_Homo sapiens_hsa00565	0.83770850
48	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.81405870
49	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.81014034
50	Allograft rejection_Homo sapiens_hsa05330	0.80999675
51	Purine metabolism_Homo sapiens_hsa00230	0.79528612
52	Protein digestion and absorption_Homo sapiens_hsa04974	0.78399309
53	Cardiac muscle contraction_Homo sapiens_hsa04260	0.78041324
54	Nicotine addiction_Homo sapiens_hsa05033	0.77430880
55	Graft-versus-host disease_Homo sapiens_hsa05332	0.75463216
56	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.73534724
57	Insulin secretion_Homo sapiens_hsa04911	0.69740304
58	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.68197623
59	Glutamatergic synapse_Homo sapiens_hsa04724	0.67098044
60	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66930000
61	ECM-receptor interaction_Homo sapiens_hsa04512	0.66576218
62	Non-homologous end-joining_Homo sapiens_hsa03450	0.66204168
63	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.64028278
64	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61537914
65	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.60910798
66	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.60197457
67	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.59797564
68	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.59247321
69	cAMP signaling pathway_Homo sapiens_hsa04024	0.59145628
70	GABAergic synapse_Homo sapiens_hsa04727	0.58944009
71	Basal cell carcinoma_Homo sapiens_hsa05217	0.58254730
72	Bile secretion_Homo sapiens_hsa04976	0.57228830
73	Type I diabetes mellitus_Homo sapiens_hsa04940	0.55927731
74	Lysine degradation_Homo sapiens_hsa00310	0.52112849
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.51799709
76	Folate biosynthesis_Homo sapiens_hsa00790	0.51776953
77	Peroxisome_Homo sapiens_hsa04146	0.50466587
78	Hippo signaling pathway_Homo sapiens_hsa04390	0.48668978
79	Circadian rhythm_Homo sapiens_hsa04710	0.48336142
80	Histidine metabolism_Homo sapiens_hsa00340	0.48210152
81	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.48028118
82	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.47621820
83	RNA polymerase_Homo sapiens_hsa03020	0.47262632
84	Oocyte meiosis_Homo sapiens_hsa04114	0.46409530
85	Fat digestion and absorption_Homo sapiens_hsa04975	0.44340559
86	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.43809018
87	Caffeine metabolism_Homo sapiens_hsa00232	0.43332566
88	Fatty acid metabolism_Homo sapiens_hsa01212	0.43209306
89	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.42821929
90	Mineral absorption_Homo sapiens_hsa04978	0.41955470
91	Renin secretion_Homo sapiens_hsa04924	0.41702939
92	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.35874465
93	Huntingtons disease_Homo sapiens_hsa05016	0.35660248
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.32935855
95	Protein export_Homo sapiens_hsa03060	0.32032931
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31140160
97	Steroid biosynthesis_Homo sapiens_hsa00100	0.30752596
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.29634408
99	Pyruvate metabolism_Homo sapiens_hsa00620	0.29421459
100	Metabolic pathways_Homo sapiens_hsa01100	0.29276686

C9ORF153

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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