ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	aggressive behavior (GO:0002118)	6.52953550
2	piRNA metabolic process (GO:0034587)	6.12498854
3	regulation of female receptivity (GO:0045924)	5.59422931
4	female mating behavior (GO:0060180)	5.52711983
5	cell wall macromolecule catabolic process (GO:0016998)	5.44597055
6	DNA methylation involved in gamete generation (GO:0043046)	5.00366380
7	cell wall macromolecule metabolic process (GO:0044036)	4.83153908
8	hyperosmotic salinity response (GO:0042538)	4.77474996
9	synapsis (GO:0007129)	4.72827209
10	grooming behavior (GO:0007625)	4.65191587
11	male meiosis I (GO:0007141)	4.64543240
12	autophagic vacuole fusion (GO:0000046)	4.61901000
13	sperm motility (GO:0030317)	4.37106690
14	seminiferous tubule development (GO:0072520)	4.34232184
15	rRNA modification (GO:0000154)	4.20471321
16	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.99961015
17	regulation of meiosis I (GO:0060631)	3.86313310
18	chromosome organization involved in meiosis (GO:0070192)	3.82217930
19	male meiosis (GO:0007140)	3.78263737
20	rRNA methylation (GO:0031167)	3.77446445
21	spermatid development (GO:0007286)	3.75843617
22	organelle membrane fusion (GO:0090174)	3.75621645
23	meiosis I (GO:0007127)	3.67826567
24	base-excision repair, AP site formation (GO:0006285)	3.60914368
25	sperm-egg recognition (GO:0035036)	3.58690777
26	single strand break repair (GO:0000012)	3.57789186
27	positive regulation of prostaglandin secretion (GO:0032308)	3.56163113
28	acrosome reaction (GO:0007340)	3.53839591
29	purine deoxyribonucleotide catabolic process (GO:0009155)	3.47017786
30	synaptonemal complex assembly (GO:0007130)	3.46217662
31	deoxyribonucleotide catabolic process (GO:0009264)	3.45482383
32	positive regulation of B cell differentiation (GO:0045579)	3.42343200
33	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	3.42074927
34	definitive hemopoiesis (GO:0060216)	3.39052631
35	binding of sperm to zona pellucida (GO:0007339)	3.35794564
36	ribosomal small subunit assembly (GO:0000028)	3.35516035
37	deoxyribose phosphate catabolic process (GO:0046386)	3.30466517
38	regulation of histone H3-K9 methylation (GO:0051570)	3.30176555
39	protein polyglutamylation (GO:0018095)	3.26736589
40	response to pheromone (GO:0019236)	3.18727027
41	fusion of sperm to egg plasma membrane (GO:0007342)	3.18587740
42	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.14971010
43	maternal behavior (GO:0042711)	3.11148147
44	protein complex biogenesis (GO:0070271)	3.10246995
45	endothelium development (GO:0003158)	3.09109819
46	multicellular organism reproduction (GO:0032504)	3.08981841
47	synaptonemal complex organization (GO:0070193)	3.06013748
48	drinking behavior (GO:0042756)	3.02306530
49	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.01911159
50	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.01911159
51	meiotic nuclear division (GO:0007126)	3.01798198
52	cellular response to exogenous dsRNA (GO:0071360)	2.95647058
53	pyrimidine nucleotide catabolic process (GO:0006244)	2.92020725
54	purine deoxyribonucleotide metabolic process (GO:0009151)	2.88682808
55	RNA methylation (GO:0001510)	2.88228488
56	purine nucleotide salvage (GO:0032261)	2.88208777
57	mitochondrial respiratory chain complex assembly (GO:0033108)	2.87964700
58	regulation of B cell apoptotic process (GO:0002902)	2.85615733
59	parental behavior (GO:0060746)	2.85502672
60	centriole replication (GO:0007099)	2.83730153
61	negative regulation of digestive system process (GO:0060457)	2.82580490
62	DNA synthesis involved in DNA repair (GO:0000731)	2.82106214
63	branched-chain amino acid catabolic process (GO:0009083)	2.81879100
64	estrogen biosynthetic process (GO:0006703)	2.81288725
65	cell-cell recognition (GO:0009988)	2.80914635
66	cellular ketone body metabolic process (GO:0046950)	2.80114813
67	fertilization (GO:0009566)	2.79277087
68	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.78386868
69	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.78386868
70	NADH dehydrogenase complex assembly (GO:0010257)	2.78386868
71	2-deoxyribonucleotide metabolic process (GO:0009394)	2.75138347
72	DNA deamination (GO:0045006)	2.74312411
73	cell differentiation involved in metanephros development (GO:0072202)	2.73874379
74	regulation of penile erection (GO:0060405)	2.73103790
75	negative regulation of B cell apoptotic process (GO:0002903)	2.71718685
76	nucleotide salvage (GO:0043173)	2.69223183
77	immunoglobulin mediated immune response (GO:0016064)	2.68333075
78	ubiquinone biosynthetic process (GO:0006744)	2.67857718
79	reproduction (GO:0000003)	2.67010597
80	heparin metabolic process (GO:0030202)	2.66031751
81	heparin biosynthetic process (GO:0030210)	2.66031751
82	branched-chain amino acid metabolic process (GO:0009081)	2.64386622
83	negative regulation of telomere maintenance (GO:0032205)	2.63605437
84	regulation of prostaglandin secretion (GO:0032306)	2.63198420
85	peroxisome fission (GO:0016559)	2.61867627
86	hematopoietic stem cell proliferation (GO:0071425)	2.61698298
87	mannosylation (GO:0097502)	2.61293104
88	sleep (GO:0030431)	2.60862239
89	ketone body metabolic process (GO:1902224)	2.60508609
90	plasma membrane fusion (GO:0045026)	2.60364282
91	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.58468242
92	NAD biosynthetic process (GO:0009435)	2.58254685
93	mismatch repair (GO:0006298)	2.57011344
94	epithelial cilium movement (GO:0003351)	2.56875831
95	deoxyribose phosphate metabolic process (GO:0019692)	2.55968635
96	spermatogenesis (GO:0007283)	2.55349928
97	male gamete generation (GO:0048232)	2.54776480
98	meiotic cell cycle process (GO:1903046)	2.53620943
99	sperm capacitation (GO:0048240)	2.52790086
100	positive regulation of vasculogenesis (GO:2001214)	2.52434325

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.56087533
2	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.73389424
3	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.58132320
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.21268722
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.09548731
6	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.92112577
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.71936032
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.69703360
9	SCL_19346495_ChIP-Seq_HPC-7_Human	2.62610574
10	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.61559961
11	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.60042658
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.51019267
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.45196196
14	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.39412650
15	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.30778357
16	ZNF274_21170338_ChIP-Seq_K562_Hela	2.30282252
17	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.29633699
18	VDR_23849224_ChIP-Seq_CD4+_Human	2.25945090
19	* FOXP3_21729870_ChIP-Seq_TREG_Human	2.15723711
20	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.10741145
21	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.00812576
22	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.96419991
23	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.92837403
24	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.82457536
25	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.81572322
26	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.77156931
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.76284281
28	CIITA_25753668_ChIP-Seq_RAJI_Human	1.73292330
29	* ELF1_20517297_ChIP-Seq_JURKAT_Human	1.69579465
30	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.69263883
31	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.65964928
32	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.63497280
33	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.63490394
34	FUS_26573619_Chip-Seq_HEK293_Human	1.63153778
35	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.60339273
36	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.59697326
37	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.53756755
38	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.50687711
39	* BCL6_27268052_Chip-Seq_Bcells_Human	1.48843275
40	* TTF2_22483619_ChIP-Seq_HELA_Human	1.48789897
41	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.47496878
42	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.42718559
43	GABP_19822575_ChIP-Seq_HepG2_Human	1.42473292
44	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.41739898
45	ERG_20517297_ChIP-Seq_VCAP_Human	1.41582442
46	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.40939741
47	ELK1_19687146_ChIP-ChIP_HELA_Human	1.36777697
48	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.36255151
49	* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.35036657
50	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.34709099
51	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.33887394
52	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.33083495
53	MYB_26560356_Chip-Seq_TH2_Human	1.30394500
54	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.29932937
55	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.28977496
56	* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.27435812
57	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.26448887
58	KDM5A_27292631_Chip-Seq_BREAST_Human	1.25780342
59	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.25378234
60	MYC_18940864_ChIP-ChIP_HL60_Human	1.25098593
61	ERA_21632823_ChIP-Seq_H3396_Human	1.23945169
62	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.23901965
63	* P300_27268052_Chip-Seq_Bcells_Human	1.22597530
64	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.22547881
65	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.22535345
66	NANOG_20526341_ChIP-Seq_ESCs_Human	1.21930347
67	STAT1_20625510_ChIP-Seq_HELA_Human	1.21655995
68	E2F1_20622854_ChIP-Seq_HELA_Human	1.21257913
69	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.20056862
70	XRN2_22483619_ChIP-Seq_HELA_Human	1.18545527
71	AR_20517297_ChIP-Seq_VCAP_Human	1.18545120
72	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.17488869
73	SPI1_23547873_ChIP-Seq_NB4_Human	1.16575735
74	E2F7_22180533_ChIP-Seq_HELA_Human	1.12693622
75	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.11073449
76	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.08813227
77	RAC3_21632823_ChIP-Seq_H3396_Human	1.08796809
78	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.05255941
79	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.03714590
80	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.02532744
81	ERG_20887958_ChIP-Seq_HPC-7_Mouse	1.01857068
82	VDR_21846776_ChIP-Seq_THP-1_Human	1.00420737
83	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.99991991
84	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.99991991
85	PHF8_20622854_ChIP-Seq_HELA_Human	0.99120788
86	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.98514524
87	* EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.98066940
88	P68_20966046_ChIP-Seq_HELA_Human	0.97954324
89	P53_21459846_ChIP-Seq_SAOS-2_Human	0.97885861
90	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.97243056
91	GATA3_26560356_Chip-Seq_TH2_Human	0.97194674
92	EWS_26573619_Chip-Seq_HEK293_Human	0.95080891
93	ER_23166858_ChIP-Seq_MCF-7_Human	0.94310604
94	* BCOR_27268052_Chip-Seq_Bcells_Human	0.94250539
95	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.93746839
96	TAF2_19829295_ChIP-Seq_ESCs_Human	0.93199046
97	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	0.92961732
98	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.92114270
99	* SPI1_20517297_ChIP-Seq_HL60_Human	0.92099319
100	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	0.91546327

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	4.52844193
2	MP0003718_maternal_effect	3.83013337
3	MP0008058_abnormal_DNA_repair	3.79853906
4	MP0008877_abnormal_DNA_methylation	3.67852161
5	MP0003806_abnormal_nucleotide_metabolis	3.31990785
6	MP0001929_abnormal_gametogenesis	2.58570510
7	MP0005646_abnormal_pituitary_gland	2.55553963
8	MP0003698_abnormal_male_reproductive	2.40368419
9	MP0005084_abnormal_gallbladder_morpholo	2.36540100
10	MP0002160_abnormal_reproductive_system	2.27431793
11	MP0005075_abnormal_melanosome_morpholog	2.15878898
12	MP0005645_abnormal_hypothalamus_physiol	2.10542868
13	MP0006292_abnormal_olfactory_placode	2.10536212
14	MP0005464_abnormal_platelet_physiology	2.09179837
15	MP0006036_abnormal_mitochondrial_physio	2.08341873
16	MP0002138_abnormal_hepatobiliary_system	2.05887151
17	MP0009697_abnormal_copulation	2.05472360
18	MP0005397_hematopoietic_system_phenotyp	1.99484386
19	MP0001545_abnormal_hematopoietic_system	1.99484386
20	MP0005670_abnormal_white_adipose	1.99407208
21	MP0005220_abnormal_exocrine_pancreas	1.98294179
22	MP0002396_abnormal_hematopoietic_system	1.88821553
23	MP0003172_abnormal_lysosome_physiology	1.88683266
24	MP0001145_abnormal_male_reproductive	1.82893092
25	MP0002210_abnormal_sex_determination	1.80921023
26	MP0000681_abnormal_thyroid_gland	1.79618916
27	MP0000653_abnormal_sex_gland	1.77316637
28	MP0002132_abnormal_respiratory_system	1.70889030
29	MP0001835_abnormal_antigen_presentation	1.70653546
30	MP0006276_abnormal_autonomic_nervous	1.66702977
31	MP0010094_abnormal_chromosome_stability	1.64708216
32	MP0009278_abnormal_bone_marrow	1.59602083
33	MP0003252_abnormal_bile_duct	1.59360253
34	MP0000372_irregular_coat_pigmentation	1.57037610
35	MP0001764_abnormal_homeostasis	1.55843294
36	MP0000015_abnormal_ear_pigmentation	1.47569525
37	MP0004808_abnormal_hematopoietic_stem	1.45656857
38	MP0002139_abnormal_hepatobiliary_system	1.36511176
39	MP0008875_abnormal_xenobiotic_pharmacok	1.34023164
40	MP0000678_abnormal_parathyroid_gland	1.30551386
41	MP0002161_abnormal_fertility/fecundity	1.29572963
42	MP0003787_abnormal_imprinting	1.28379953
43	MP0008995_early_reproductive_senescence	1.28147863
44	MP0005389_reproductive_system_phenotype	1.27879745
45	MP0005395_other_phenotype	1.27539911
46	MP0003786_premature_aging	1.23099980
47	MP0003186_abnormal_redox_activity	1.23042001
48	MP0006072_abnormal_retinal_apoptosis	1.22592987
49	MP0010368_abnormal_lymphatic_system	1.18823407
50	MP0003111_abnormal_nucleus_morphology	1.15018717
51	MP0003303_peritoneal_inflammation	1.14254545
52	MP0002148_abnormal_hypersensitivity_rea	1.13717948
53	MP0005058_abnormal_lysosome_morphology	1.12667203
54	MP0001968_abnormal_touch/_nociception	1.11777677
55	MP0009379_abnormal_foot_pigmentation	1.10254724
56	MP0005174_abnormal_tail_pigmentation	1.08838673
57	MP0004147_increased_porphyrin_level	1.08711575
58	MP0001119_abnormal_female_reproductive	1.07500858
59	MP0008007_abnormal_cellular_replicative	1.05174383
60	MP0005551_abnormal_eye_electrophysiolog	1.03035931
61	MP0005535_abnormal_body_temperature	0.99230898
62	MP0003191_abnormal_cellular_cholesterol	0.98221959
63	MP0005377_hearing/vestibular/ear_phenot	0.97255598
64	MP0003878_abnormal_ear_physiology	0.97255598
65	MP0001881_abnormal_mammary_gland	0.94173874
66	MP0000465_gastrointestinal_hemorrhage	0.94036637
67	MP0009765_abnormal_xenobiotic_induced	0.94021897
68	MP0002019_abnormal_tumor_incidence	0.91794187
69	MP0002095_abnormal_skin_pigmentation	0.88992136
70	MP0002234_abnormal_pharynx_morphology	0.86379569
71	MP0003699_abnormal_female_reproductive	0.86084784
72	MP0008873_increased_physiological_sensi	0.85914437
73	MP0001986_abnormal_taste_sensitivity	0.85052551
74	MP0000230_abnormal_systemic_arterial	0.82668129
75	MP0002928_abnormal_bile_duct	0.82646486
76	MP0005636_abnormal_mineral_homeostasis	0.80785346
77	MP0006035_abnormal_mitochondrial_morpho	0.77708849
78	MP0005266_abnormal_metabolism	0.76657341
79	MP0000689_abnormal_spleen_morphology	0.76505171
80	MP0003077_abnormal_cell_cycle	0.76152035
81	MP0002398_abnormal_bone_marrow	0.75473108
82	MP0005085_abnormal_gallbladder_physiolo	0.74190632
83	MP0003693_abnormal_embryo_hatching	0.73914487
84	MP0003638_abnormal_response/metabolism_	0.72908197
85	MP0001666_abnormal_nutrient_absorption	0.72051480
86	MP0005319_abnormal_enzyme/_coenzyme	0.70501921
87	MP0002971_abnormal_brown_adipose	0.69233679
88	MP0001905_abnormal_dopamine_level	0.69135803
89	MP0000569_abnormal_digit_pigmentation	0.67339419
90	MP0008004_abnormal_stomach_pH	0.66101035
91	MP0005647_abnormal_sex_gland	0.65943036
92	MP0002733_abnormal_thermal_nociception	0.65890160
93	MP0000313_abnormal_cell_death	0.65726691
94	MP0008469_abnormal_protein_level	0.65006635
95	MP0002876_abnormal_thyroid_physiology	0.64585193
96	MP0008872_abnormal_physiological_respon	0.64338725
97	MP0009643_abnormal_urine_homeostasis	0.64132640
98	MP0002736_abnormal_nociception_after	0.63795396
99	MP0003943_abnormal_hepatobiliary_system	0.63645095
100	MP0001765_abnormal_ion_homeostasis	0.63353316

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Thrombocytosis (HP:0001894)	4.22595915
2	Severe visual impairment (HP:0001141)	3.80113610
3	Hepatocellular necrosis (HP:0001404)	3.67955836
4	Tubulointerstitial nephritis (HP:0001970)	3.54918778
5	Hepatic necrosis (HP:0002605)	3.43596175
6	Type I transferrin isoform profile (HP:0003642)	3.35195934
7	Panhypogammaglobulinemia (HP:0003139)	3.29556071
8	Absent/shortened dynein arms (HP:0200106)	3.26861163
9	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.26861163
10	Elevated erythrocyte sedimentation rate (HP:0003565)	3.21442110
11	Abolished electroretinogram (ERG) (HP:0000550)	3.17523051
12	Attenuation of retinal blood vessels (HP:0007843)	3.16153783
13	Hypergonadotropic hypogonadism (HP:0000815)	3.13189788
14	Agammaglobulinemia (HP:0004432)	3.10628587
15	Abnormal protein glycosylation (HP:0012346)	2.96991831
16	Abnormal glycosylation (HP:0012345)	2.96991831
17	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.96991831
18	Abnormal protein N-linked glycosylation (HP:0012347)	2.96991831
19	Abnormality of the prostate (HP:0008775)	2.77959277
20	Mitochondrial inheritance (HP:0001427)	2.77397110
21	Bile duct proliferation (HP:0001408)	2.72841740
22	Abnormal biliary tract physiology (HP:0012439)	2.72841740
23	Pancreatic cysts (HP:0001737)	2.72817270
24	Nephronophthisis (HP:0000090)	2.69594247
25	Pancreatic fibrosis (HP:0100732)	2.67240670
26	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.66183312
27	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.64391853
28	Spontaneous abortion (HP:0005268)	2.62519068
29	Chronic hepatic failure (HP:0100626)	2.61347910
30	Abnormal rod and cone electroretinograms (HP:0008323)	2.61260212
31	Generalized aminoaciduria (HP:0002909)	2.58125934
32	Renal Fanconi syndrome (HP:0001994)	2.54164599
33	Increased CSF lactate (HP:0002490)	2.51292007
34	Abnormal respiratory epithelium morphology (HP:0012253)	2.44397637
35	Abnormal respiratory motile cilium morphology (HP:0005938)	2.44397637
36	Brushfield spots (HP:0001088)	2.40714945
37	Azoospermia (HP:0000027)	2.38587541
38	Acute lymphatic leukemia (HP:0006721)	2.37213380
39	Abnormal respiratory motile cilium physiology (HP:0012261)	2.37102657
40	Chronic otitis media (HP:0000389)	2.34779511
41	Abnormal spermatogenesis (HP:0008669)	2.32338307
42	Abnormal ciliary motility (HP:0012262)	2.31575728
43	Abnormality of fatty-acid metabolism (HP:0004359)	2.30251776
44	Decreased central vision (HP:0007663)	2.30049666
45	Abnormality of the renal medulla (HP:0100957)	2.27314887
46	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.27313581
47	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.27313581
48	Increased intramyocellular lipid droplets (HP:0012240)	2.21580440
49	Abnormal number of erythroid precursors (HP:0012131)	2.15681177
50	3-Methylglutaconic aciduria (HP:0003535)	2.13041210
51	Progressive muscle weakness (HP:0003323)	2.12455757
52	Bony spicule pigmentary retinopathy (HP:0007737)	2.11306504
53	Failure to thrive in infancy (HP:0001531)	2.09249552
54	Increased muscle lipid content (HP:0009058)	2.04357947
55	Polydipsia (HP:0001959)	2.03000458
56	Abnormal drinking behavior (HP:0030082)	2.03000458
57	Supernumerary spleens (HP:0009799)	2.02521420
58	Abnormality of cells of the erythroid lineage (HP:0012130)	2.01312150
59	Increased cerebral lipofuscin (HP:0011813)	2.01269036
60	Increased serum lactate (HP:0002151)	2.00507464
61	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.00380902
62	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.99838882
63	Abnormal mitochondria in muscle tissue (HP:0008316)	1.99502113
64	Oral leukoplakia (HP:0002745)	1.99125914
65	B lymphocytopenia (HP:0010976)	1.98842960
66	Lactic acidosis (HP:0003128)	1.96967574
67	Congenital hepatic fibrosis (HP:0002612)	1.95480833
68	Abnormality of macular pigmentation (HP:0008002)	1.92101486
69	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.91970391
70	Cystic liver disease (HP:0006706)	1.90573213
71	Portal hypertension (HP:0001409)	1.89997467
72	Abnormality of B cell number (HP:0010975)	1.89014644
73	Abnormality of midbrain morphology (HP:0002418)	1.87967454
74	Molar tooth sign on MRI (HP:0002419)	1.87967454
75	Reduced antithrombin III activity (HP:0001976)	1.87941502
76	Hypothermia (HP:0002045)	1.87449343
77	Aplasia/hypoplasia of the uterus (HP:0008684)	1.86547547
78	Acute necrotizing encephalopathy (HP:0006965)	1.86188695
79	Infertility (HP:0000789)	1.85834359
80	Hypoplasia of the uterus (HP:0000013)	1.85352732
81	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.82755170
82	Cerebral edema (HP:0002181)	1.82657688
83	Insulin-resistant diabetes mellitus (HP:0000831)	1.81826553
84	Abnormality of renal resorption (HP:0011038)	1.81286536
85	Acute hepatic failure (HP:0006554)	1.80985465
86	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.80925974
87	Asplenia (HP:0001746)	1.79739916
88	Absent thumb (HP:0009777)	1.79597710
89	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.79469210
90	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.78810899
91	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.77426375
92	Dicarboxylic aciduria (HP:0003215)	1.77426375
93	Spastic paraparesis (HP:0002313)	1.74762120
94	Cerebellar dysplasia (HP:0007033)	1.74244459
95	Aplastic anemia (HP:0001915)	1.73859302
96	Abnormality of the hepatic vasculature (HP:0006707)	1.73631465
97	Short 1st metacarpal (HP:0010034)	1.73194834
98	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.73194834
99	True hermaphroditism (HP:0010459)	1.72916244
100	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.71665466

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BCKDK	3.79070474
2	SCYL2	3.76058439
3	TAOK3	3.61609101
4	MAP4K2	3.42292425
5	NUAK1	3.28799490
6	VRK2	3.06349347
7	ZAK	2.72444276
8	PBK	2.68002936
9	CDK19	2.64195429
10	FLT3	2.56644480
11	KIT	2.33435430
12	PINK1	2.20400338
13	TAF1	2.03213989
14	PLK4	1.94900061
15	CSF1R	1.92715618
16	TESK2	1.82854493
17	EIF2AK3	1.82514826
18	ERN1	1.69748241
19	TLK1	1.57621875
20	CDC7	1.55658259
21	TEC	1.52908329
22	TBK1	1.51278661
23	NME2	1.49984207
24	MAPKAPK3	1.42910137
25	FES	1.40113438
26	MAP4K1	1.36303668
27	PNCK	1.34411313
28	VRK1	1.29171496
29	PIK3CG	1.28960220
30	STK16	1.24056470
31	KDR	1.17766968
32	MAP2K3	1.13182902
33	BMPR1B	1.10561140
34	CCNB1	1.03979779
35	MAP3K11	1.02623916
36	SRPK1	1.02246199
37	RPS6KB2	1.00946709
38	WNK4	1.00223595
39	TNK2	1.00042452
40	SYK	0.96571312
41	ATR	0.94779573
42	LATS1	0.92420733
43	MAP2K6	0.92249570
44	TIE1	0.89024900
45	OXSR1	0.88743192
46	STK39	0.86751897
47	IKBKB	0.86374404
48	MAP2K2	0.84152523
49	INSRR	0.82307300
50	AURKA	0.78882327
51	ABL2	0.77504948
52	RPS6KA5	0.77170516
53	DAPK1	0.76875777
54	PDK2	0.76372669
55	CDK9	0.75163649
56	BTK	0.74046070
57	FRK	0.72207183
58	CDK7	0.71716423
59	PIM2	0.71068956
60	ITK	0.68845927
61	ARAF	0.64702946
62	CHEK2	0.64540476
63	GRK1	0.62716264
64	CDK3	0.60569846
65	BMPR2	0.60301273
66	TESK1	0.56337298
67	MAP3K13	0.55515249
68	RPS6KA4	0.54596499
69	GRK6	0.53057606
70	PLK1	0.50117698
71	MAPKAPK5	0.48564043
72	MAPK11	0.47115664
73	CSNK1G3	0.46809145
74	CSNK2A2	0.44109609
75	ATM	0.43712642
76	IRAK2	0.43669685
77	JAK3	0.43187345
78	PRKCQ	0.42607481
79	AURKB	0.42433081
80	RPS6KA6	0.41894295
81	ADRBK2	0.41508427
82	RPS6KC1	0.41311666
83	RPS6KL1	0.41311666
84	PRKD2	0.38655284
85	IGF1R	0.38230868
86	CHEK1	0.37467771
87	LYN	0.36451681
88	CDK4	0.36305973
89	CSNK2A1	0.35989469
90	RPS6KA1	0.34447923
91	CDK2	0.34259124
92	STK38	0.33983239
93	MAPK3	0.32620581
94	PTK2B	0.32571131
95	ABL1	0.32537877
96	MAPK15	0.29832071
97	CSNK1A1	0.26536184
98	HCK	0.24898771
99	CSNK1G2	0.24369427
100	GRK7	0.24311486

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Asthma_Homo sapiens_hsa05310	3.64292855
2	Allograft rejection_Homo sapiens_hsa05330	2.85809515
3	Base excision repair_Homo sapiens_hsa03410	2.82119709
4	Ribosome_Homo sapiens_hsa03010	2.74073654
5	Type I diabetes mellitus_Homo sapiens_hsa04940	2.62941955
6	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.57099339
7	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.50592395
8	Graft-versus-host disease_Homo sapiens_hsa05332	2.44323467
9	Homologous recombination_Homo sapiens_hsa03440	2.39960119
10	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	2.05282053
11	DNA replication_Homo sapiens_hsa03030	2.03386046
12	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.86481724
13	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.83305331
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.78038452
15	RNA transport_Homo sapiens_hsa03013	1.71003304
16	Peroxisome_Homo sapiens_hsa04146	1.70765243
17	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.68906336
18	Antigen processing and presentation_Homo sapiens_hsa04612	1.68450428
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.60800457
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.60505677
21	Pyrimidine metabolism_Homo sapiens_hsa00240	1.55954873
22	Selenocompound metabolism_Homo sapiens_hsa00450	1.52487491
23	RNA polymerase_Homo sapiens_hsa03020	1.50775465
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.48355489
25	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.44963885
26	Parkinsons disease_Homo sapiens_hsa05012	1.41124741
27	Non-homologous end-joining_Homo sapiens_hsa03450	1.35586104
28	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.33764979
29	Fatty acid elongation_Homo sapiens_hsa00062	1.33649078
30	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.33500978
31	Mismatch repair_Homo sapiens_hsa03430	1.32254993
32	Olfactory transduction_Homo sapiens_hsa04740	1.31726494
33	Purine metabolism_Homo sapiens_hsa00230	1.30497423
34	Butanoate metabolism_Homo sapiens_hsa00650	1.30008294
35	Proteasome_Homo sapiens_hsa03050	1.27886498
36	Propanoate metabolism_Homo sapiens_hsa00640	1.23049375
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.20955157
38	Spliceosome_Homo sapiens_hsa03040	1.17855117
39	Other glycan degradation_Homo sapiens_hsa00511	1.16679209
40	Rheumatoid arthritis_Homo sapiens_hsa05323	1.15427522
41	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.14336382
42	RNA degradation_Homo sapiens_hsa03018	1.11239988
43	Primary immunodeficiency_Homo sapiens_hsa05340	1.11089742
44	Nucleotide excision repair_Homo sapiens_hsa03420	1.10439025
45	Basal transcription factors_Homo sapiens_hsa03022	1.07520862
46	Herpes simplex infection_Homo sapiens_hsa05168	1.05718836
47	Tryptophan metabolism_Homo sapiens_hsa00380	1.01330397
48	Huntingtons disease_Homo sapiens_hsa05016	1.00460649
49	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.99552549
50	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.98212976
51	Linoleic acid metabolism_Homo sapiens_hsa00591	0.98117298
52	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.96941784
53	Glutathione metabolism_Homo sapiens_hsa00480	0.95033970
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.93360670
55	Sulfur metabolism_Homo sapiens_hsa00920	0.90149367
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.90003430
57	Viral myocarditis_Homo sapiens_hsa05416	0.88497143
58	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.86105911
59	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.84920996
60	Fatty acid metabolism_Homo sapiens_hsa01212	0.82366360
61	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.81311572
62	Chemical carcinogenesis_Homo sapiens_hsa05204	0.80291935
63	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.80049233
64	Leishmaniasis_Homo sapiens_hsa05140	0.79414827
65	Fatty acid degradation_Homo sapiens_hsa00071	0.78697012
66	Regulation of autophagy_Homo sapiens_hsa04140	0.77727278
67	Phototransduction_Homo sapiens_hsa04744	0.75655226
68	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.74395888
69	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.70038990
70	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.70036502
71	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.69848319
72	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.69413781
73	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.69130249
74	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.69113862
75	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.68489946
76	Metabolic pathways_Homo sapiens_hsa01100	0.67897872
77	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.67717019
78	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.65882171
79	Tyrosine metabolism_Homo sapiens_hsa00350	0.64089841
80	Pyruvate metabolism_Homo sapiens_hsa00620	0.57864424
81	Influenza A_Homo sapiens_hsa05164	0.53618793
82	Pentose phosphate pathway_Homo sapiens_hsa00030	0.52977226
83	Taste transduction_Homo sapiens_hsa04742	0.52608757
84	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.52064236
85	Salivary secretion_Homo sapiens_hsa04970	0.50810198
86	Platelet activation_Homo sapiens_hsa04611	0.48047392
87	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.45516202
88	Ether lipid metabolism_Homo sapiens_hsa00565	0.45491319
89	Retinol metabolism_Homo sapiens_hsa00830	0.44185346
90	One carbon pool by folate_Homo sapiens_hsa00670	0.43621191
91	Glycerolipid metabolism_Homo sapiens_hsa00561	0.43433496
92	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.43121670
93	Carbon metabolism_Homo sapiens_hsa01200	0.42619287
94	Alzheimers disease_Homo sapiens_hsa05010	0.41405683
95	beta-Alanine metabolism_Homo sapiens_hsa00410	0.37845514
96	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.37011669
97	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.35831340
98	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.33042273
99	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.31792765
100	Renin-angiotensin system_Homo sapiens_hsa04614	0.30798678

C9ORF43

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)

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