ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	4.71905262
2	transmission of nerve impulse (GO:0019226)	4.26471151
3	sex differentiation (GO:0007548)	4.06993832
4	response to pheromone (GO:0019236)	3.76736038
5	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.69234297
6	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.69234297
7	DNA double-strand break processing (GO:0000729)	3.50262049
8	centriole replication (GO:0007099)	3.46416764
9	photoreceptor cell maintenance (GO:0045494)	3.40486310
10	replication fork processing (GO:0031297)	3.39112393
11	neural tube formation (GO:0001841)	3.35063157
12	regulation of glucokinase activity (GO:0033131)	3.34130834
13	regulation of hexokinase activity (GO:1903299)	3.34130834
14	behavioral response to ethanol (GO:0048149)	3.31561596
15	water-soluble vitamin biosynthetic process (GO:0042364)	3.28917429
16	cellular ketone body metabolic process (GO:0046950)	3.27335955
17	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.25898672
18	detection of light stimulus involved in visual perception (GO:0050908)	3.23778278
19	detection of light stimulus involved in sensory perception (GO:0050962)	3.23778278
20	sphingoid metabolic process (GO:0046519)	3.21925543
21	tryptophan catabolic process (GO:0006569)	3.20866276
22	indole-containing compound catabolic process (GO:0042436)	3.20866276
23	indolalkylamine catabolic process (GO:0046218)	3.20866276
24	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.18351698
25	protein localization to cilium (GO:0061512)	3.15670471
26	fucose catabolic process (GO:0019317)	3.14492455
27	L-fucose metabolic process (GO:0042354)	3.14492455
28	L-fucose catabolic process (GO:0042355)	3.14492455
29	indolalkylamine metabolic process (GO:0006586)	3.13507867
30	signal peptide processing (GO:0006465)	3.09576676
31	peptidyl-histidine modification (GO:0018202)	3.07572489
32	respiratory chain complex IV assembly (GO:0008535)	3.07031528
33	piRNA metabolic process (GO:0034587)	3.03806737
34	intraciliary transport (GO:0042073)	2.99755378
35	kynurenine metabolic process (GO:0070189)	2.99468674
36	protein polyglutamylation (GO:0018095)	2.97885649
37	dopamine transport (GO:0015872)	2.97287652
38	DNA deamination (GO:0045006)	2.96010318
39	ketone body metabolic process (GO:1902224)	2.94724043
40	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.92953684
41	cilium morphogenesis (GO:0060271)	2.89488352
42	amino acid salvage (GO:0043102)	2.89356402
43	L-methionine salvage (GO:0071267)	2.89356402
44	L-methionine biosynthetic process (GO:0071265)	2.89356402
45	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.88127070
46	mannosylation (GO:0097502)	2.86729992
47	retinal cone cell development (GO:0046549)	2.86650532
48	branched-chain amino acid catabolic process (GO:0009083)	2.84587978
49	regulation of memory T cell differentiation (GO:0043380)	2.83270265
50	regulation of meiosis I (GO:0060631)	2.80793779
51	regulation of neurotransmitter uptake (GO:0051580)	2.80096931
52	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.78779686
53	tryptophan metabolic process (GO:0006568)	2.74398921
54	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.74057409
55	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.71884555
56	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.71884555
57	NADH dehydrogenase complex assembly (GO:0010257)	2.71884555
58	amine catabolic process (GO:0009310)	2.70861858
59	cellular biogenic amine catabolic process (GO:0042402)	2.70861858
60	response to nitrosative stress (GO:0051409)	2.69188734
61	reciprocal meiotic recombination (GO:0007131)	2.67441304
62	reciprocal DNA recombination (GO:0035825)	2.67441304
63	DNA integration (GO:0015074)	2.66703304
64	cilium or flagellum-dependent cell motility (GO:0001539)	2.66551706
65	cilium organization (GO:0044782)	2.65327265
66	positive regulation of mitochondrial fission (GO:0090141)	2.65014252
67	regulation of cilium movement (GO:0003352)	2.63836055
68	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.62610026
69	seminiferous tubule development (GO:0072520)	2.62318513
70	cilium assembly (GO:0042384)	2.62181254
71	DNA methylation involved in gamete generation (GO:0043046)	2.61942216
72	meiotic chromosome segregation (GO:0045132)	2.60688048
73	adaptation of signaling pathway (GO:0023058)	2.60282126
74	platelet dense granule organization (GO:0060155)	2.60178773
75	lactate metabolic process (GO:0006089)	2.59891389
76	negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)	2.58995137
77	epithelial cilium movement (GO:0003351)	2.58482840
78	proline transport (GO:0015824)	2.57378579
79	DNA demethylation (GO:0080111)	2.56570096
80	cytochrome complex assembly (GO:0017004)	2.55495914
81	axoneme assembly (GO:0035082)	2.55490386
82	protein complex biogenesis (GO:0070271)	2.53195590
83	cornea development in camera-type eye (GO:0061303)	2.51947371
84	sphingosine metabolic process (GO:0006670)	2.51793313
85	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.50799243
86	somite rostral/caudal axis specification (GO:0032525)	2.50695816
87	recombinational repair (GO:0000725)	2.50057886
88	cullin deneddylation (GO:0010388)	2.49714938
89	negative regulation of neurological system process (GO:0031645)	2.49406111
90	aromatic amino acid family catabolic process (GO:0009074)	2.44952427
91	double-strand break repair via homologous recombination (GO:0000724)	2.44460112
92	synapsis (GO:0007129)	2.42882744
93	reflex (GO:0060004)	2.42842669
94	protein K11-linked deubiquitination (GO:0035871)	2.42439056
95	limb bud formation (GO:0060174)	2.42240808
96	regulation of collateral sprouting (GO:0048670)	2.41201985
97	visual perception (GO:0007601)	2.41056589
98	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.40502091
99	sensory perception of light stimulus (GO:0050953)	2.40071753
100	regulation of action potential (GO:0098900)	2.39884358

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.58530343
2	IGF1R_20145208_ChIP-Seq_DFB_Human	2.88239897
3	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.86891336
4	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.73982405
5	VDR_22108803_ChIP-Seq_LS180_Human	2.69294146
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.62625639
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.60239383
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.37994979
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.37565093
10	FUS_26573619_Chip-Seq_HEK293_Human	2.28239453
11	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.26621863
12	P300_19829295_ChIP-Seq_ESCs_Human	2.26311924
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.23136149
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.17645079
15	EWS_26573619_Chip-Seq_HEK293_Human	2.07030759
16	EZH2_22144423_ChIP-Seq_EOC_Human	2.06857912
17	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.06332123
18	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.00449562
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.98817731
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.98267440
21	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.90716421
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.90276220
23	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.89174960
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.86937800
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.86120354
26	ER_23166858_ChIP-Seq_MCF-7_Human	1.83235544
27	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.74228171
28	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.69680360
29	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.67247239
30	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.67121292
31	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.64661907
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.64661907
33	IRF1_19129219_ChIP-ChIP_H3396_Human	1.63519231
34	SMAD4_21799915_ChIP-Seq_A2780_Human	1.63307862
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.62066042
36	STAT3_23295773_ChIP-Seq_U87_Human	1.57355504
37	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.56264942
38	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.55375783
39	AR_25329375_ChIP-Seq_VCAP_Human	1.52269386
40	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.48286096
41	SOX2_19829295_ChIP-Seq_ESCs_Human	1.48184666
42	NANOG_19829295_ChIP-Seq_ESCs_Human	1.48184666
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.48034139
44	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.45660336
45	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.45589841
46	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.45564278
47	TCF4_23295773_ChIP-Seq_U87_Human	1.45371003
48	TCF4_22108803_ChIP-Seq_LS180_Human	1.43885794
49	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.43864722
50	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.41957692
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.41825147
52	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.39534350
53	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.39200953
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.38695769
55	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.37827832
56	ELK1_19687146_ChIP-ChIP_HELA_Human	1.36001419
57	E2F7_22180533_ChIP-Seq_HELA_Human	1.31381840
58	TP53_22573176_ChIP-Seq_HFKS_Human	1.30224904
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.27996556
60	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27937335
61	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.27583619
62	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.23299313
63	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23293666
64	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.23281550
65	RUNX2_22187159_ChIP-Seq_PCA_Human	1.22072177
66	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.21171725
67	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.21171725
68	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.20171593
69	CDX2_22108803_ChIP-Seq_LS180_Human	1.18464898
70	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.17697258
71	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.17207366
72	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.17207366
73	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.17196684
74	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.16644354
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.14860253
76	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.14829731
77	MYC_18940864_ChIP-ChIP_HL60_Human	1.12444208
78	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12192709
79	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.10199540
80	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09186949
81	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.09161002
82	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.07248404
83	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.05484142
84	RNF2_27304074_Chip-Seq_NSC_Mouse	1.04411724
85	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.03574280
86	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.03558518
87	P53_22387025_ChIP-Seq_ESCs_Mouse	1.02763006
88	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.02504730
89	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.02070549
90	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.98971101
91	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.98592436
92	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.98435058
93	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.98094217
94	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.97577506
95	AR_20517297_ChIP-Seq_VCAP_Human	0.97448286
96	VDR_23849224_ChIP-Seq_CD4+_Human	0.96840539
97	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.95977736
98	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.95665614
99	NCOR_22424771_ChIP-Seq_293T_Human	0.95386372
100	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.95243693

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	3.86638086
2	MP0003136_yellow_coat_color	3.10735923
3	MP0000372_irregular_coat_pigmentation	2.99397247
4	MP0002837_dystrophic_cardiac_calcinosis	2.93403744
5	MP0002102_abnormal_ear_morphology	2.69549242
6	MP0005171_absent_coat_pigmentation	2.68675897
7	MP0003195_calcinosis	2.67351321
8	MP0002163_abnormal_gland_morphology	2.52575766
9	MP0001968_abnormal_touch/_nociception	2.44436906
10	MP0005551_abnormal_eye_electrophysiolog	2.37504138
11	MP0002938_white_spotting	2.37016387
12	MP0002736_abnormal_nociception_after	2.30189180
13	MP0008058_abnormal_DNA_repair	2.20388369
14	MP0008877_abnormal_DNA_methylation	2.11984824
15	MP0000427_abnormal_hair_cycle	2.06049871
16	MP0001501_abnormal_sleep_pattern	1.96619361
17	MP0001986_abnormal_taste_sensitivity	1.88851270
18	MP0009046_muscle_twitch	1.88240371
19	MP0003646_muscle_fatigue	1.85331690
20	MP0006054_spinal_hemorrhage	1.84424486
21	MP0005253_abnormal_eye_physiology	1.84222939
22	MP0003718_maternal_effect	1.83345078
23	MP0006292_abnormal_olfactory_placode	1.80304137
24	MP0003787_abnormal_imprinting	1.76493909
25	MP0006072_abnormal_retinal_apoptosis	1.59151314
26	MP0002095_abnormal_skin_pigmentation	1.58442031
27	MP0003011_delayed_dark_adaptation	1.56458940
28	MP0001529_abnormal_vocalization	1.54696013
29	MP0003950_abnormal_plasma_membrane	1.52890554
30	MP0005075_abnormal_melanosome_morpholog	1.52825799
31	MP0008872_abnormal_physiological_respon	1.52240162
32	MP0005379_endocrine/exocrine_gland_phen	1.51740888
33	MP0003252_abnormal_bile_duct	1.51689680
34	MP0008995_early_reproductive_senescence	1.49490310
35	MP0005174_abnormal_tail_pigmentation	1.44726571
36	MP0005645_abnormal_hypothalamus_physiol	1.42428372
37	MP0002928_abnormal_bile_duct	1.42095235
38	MP0006276_abnormal_autonomic_nervous	1.36449787
39	MP0001984_abnormal_olfaction	1.36031141
40	MP0002653_abnormal_ependyma_morphology	1.35283172
41	MP0003880_abnormal_central_pattern	1.33556573
42	MP0001485_abnormal_pinna_reflex	1.30117390
43	MP0005646_abnormal_pituitary_gland	1.29312036
44	MP0009745_abnormal_behavioral_response	1.26487664
45	MP0004133_heterotaxia	1.23156115
46	MP0005367_renal/urinary_system_phenotyp	1.21486016
47	MP0000516_abnormal_urinary_system	1.21486016
48	MP0003890_abnormal_embryonic-extraembry	1.21128345
49	MP0001486_abnormal_startle_reflex	1.19565712
50	MP0003121_genomic_imprinting	1.17348923
51	MP0002876_abnormal_thyroid_physiology	1.16113058
52	MP0002233_abnormal_nose_morphology	1.14109038
53	MP0004142_abnormal_muscle_tone	1.14083918
54	MP0005085_abnormal_gallbladder_physiolo	1.13612521
55	MP0003283_abnormal_digestive_organ	1.13225046
56	MP0000647_abnormal_sebaceous_gland	1.13140203
57	MP0000383_abnormal_hair_follicle	1.10664672
58	MP0005395_other_phenotype	1.10183330
59	MP0005410_abnormal_fertilization	1.09916839
60	MP0002272_abnormal_nervous_system	1.08495497
61	MP0002254_reproductive_system_inflammat	1.08112969
62	MP0006035_abnormal_mitochondrial_morpho	1.05796805
63	MP0003137_abnormal_impulse_conducting	1.04276186
64	MP0004043_abnormal_pH_regulation	1.04098763
65	MP0000015_abnormal_ear_pigmentation	1.03453799
66	MP0003186_abnormal_redox_activity	1.03397852
67	MP0008789_abnormal_olfactory_epithelium	1.03113266
68	MP0002751_abnormal_autonomic_nervous	1.01550832
69	MP0001293_anophthalmia	1.01067539
70	MP0001764_abnormal_homeostasis	0.96278285
71	MP0004215_abnormal_myocardial_fiber	0.94794279
72	MP0005195_abnormal_posterior_eye	0.92279981
73	MP0002160_abnormal_reproductive_system	0.91643937
74	MP0003045_fibrosis	0.90933800
75	MP0000631_abnormal_neuroendocrine_gland	0.90863166
76	MP0001324_abnormal_eye_pigmentation	0.90742995
77	MP0003698_abnormal_male_reproductive	0.89983613
78	MP0008875_abnormal_xenobiotic_pharmacok	0.86848008
79	MP0003122_maternal_imprinting	0.86801843
80	MP0005386_behavior/neurological_phenoty	0.85985106
81	MP0004924_abnormal_behavior	0.85985106
82	MP0003936_abnormal_reproductive_system	0.85225902
83	MP0010094_abnormal_chromosome_stability	0.85186421
84	MP0005084_abnormal_gallbladder_morpholo	0.84006773
85	MP0002168_other_aberrant_phenotype	0.83928773
86	MP0001929_abnormal_gametogenesis	0.83493693
87	MP0009697_abnormal_copulation	0.82911928
88	MP0002210_abnormal_sex_determination	0.82902750
89	MP0006036_abnormal_mitochondrial_physio	0.79510549
90	MP0004381_abnormal_hair_follicle	0.78722691
91	MP0000653_abnormal_sex_gland	0.78619660
92	MP0002067_abnormal_sensory_capabilities	0.78427199
93	MP0002138_abnormal_hepatobiliary_system	0.77780897
94	MP0008057_abnormal_DNA_replication	0.77644023
95	MP0003937_abnormal_limbs/digits/tail_de	0.77234087
96	MP0002752_abnormal_somatic_nervous	0.76865778
97	MP0008775_abnormal_heart_ventricle	0.76019952
98	MP0005391_vision/eye_phenotype	0.73570989
99	MP0002229_neurodegeneration	0.71887190
100	MP0002557_abnormal_social/conspecific_i	0.69805932

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.84198789
2	Pancreatic fibrosis (HP:0100732)	3.40159140
3	Medial flaring of the eyebrow (HP:0010747)	3.30875128
4	True hermaphroditism (HP:0010459)	3.30765722
5	Nephronophthisis (HP:0000090)	3.25585972
6	Colon cancer (HP:0003003)	3.16723983
7	Gaze-evoked nystagmus (HP:0000640)	2.94948729
8	Cerebellar dysplasia (HP:0007033)	2.92161698
9	Tubulointerstitial nephritis (HP:0001970)	2.86882675
10	Abnormality of the renal medulla (HP:0100957)	2.78625867
11	Molar tooth sign on MRI (HP:0002419)	2.78553358
12	Abnormality of midbrain morphology (HP:0002418)	2.78553358
13	Abnormality of macular pigmentation (HP:0008002)	2.73675103
14	Hemiparesis (HP:0001269)	2.73625288
15	Congenital primary aphakia (HP:0007707)	2.71381366
16	Attenuation of retinal blood vessels (HP:0007843)	2.70594276
17	Pendular nystagmus (HP:0012043)	2.70508169
18	Congenital stationary night blindness (HP:0007642)	2.70032542
19	Gait imbalance (HP:0002141)	2.65406852
20	Nephrogenic diabetes insipidus (HP:0009806)	2.63059846
21	Type II lissencephaly (HP:0007260)	2.61112247
22	Hyperglycinemia (HP:0002154)	2.60304650
23	Chronic hepatic failure (HP:0100626)	2.59702352
24	Focal motor seizures (HP:0011153)	2.58539340
25	Hyperglycinuria (HP:0003108)	2.55254795
26	Hyperventilation (HP:0002883)	2.53072252
27	Abnormality of the renal cortex (HP:0011035)	2.52436885
28	Progressive inability to walk (HP:0002505)	2.50199754
29	Abnormality of the labia minora (HP:0012880)	2.50113463
30	Lissencephaly (HP:0001339)	2.47371234
31	Acute encephalopathy (HP:0006846)	2.46505616
32	Increased CSF lactate (HP:0002490)	2.40856554
33	Rhabdomyosarcoma (HP:0002859)	2.40567819
34	Genital tract atresia (HP:0001827)	2.38977793
35	Cystic liver disease (HP:0006706)	2.38233142
36	Acute necrotizing encephalopathy (HP:0006965)	2.38060641
37	Ependymoma (HP:0002888)	2.37041885
38	3-Methylglutaconic aciduria (HP:0003535)	2.31518973
39	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.31048792
40	Abnormal rod and cone electroretinograms (HP:0008323)	2.28971770
41	Disproportionate short-trunk short stature (HP:0003521)	2.26475317
42	Inability to walk (HP:0002540)	2.25998705
43	Hypothermia (HP:0002045)	2.25615603
44	Vaginal atresia (HP:0000148)	2.25166616
45	Hypoplastic iliac wings (HP:0002866)	2.23771435
46	Abnormality of serine family amino acid metabolism (HP:0010894)	2.21640606
47	Abnormality of glycine metabolism (HP:0010895)	2.21640606
48	Mitochondrial inheritance (HP:0001427)	2.19491214
49	Abolished electroretinogram (ERG) (HP:0000550)	2.17764639
50	Carpal bone hypoplasia (HP:0001498)	2.17451295
51	Hepatocellular necrosis (HP:0001404)	2.15906910
52	Hypoplasia of the fovea (HP:0007750)	2.15593732
53	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.15593732
54	Thyroid-stimulating hormone excess (HP:0002925)	2.14191933
55	Tubular atrophy (HP:0000092)	2.13173549
56	Severe visual impairment (HP:0001141)	2.13055182
57	Retinitis pigmentosa (HP:0000510)	2.12418385
58	Progressive macrocephaly (HP:0004481)	2.12322371
59	Increased corneal curvature (HP:0100692)	2.12256655
60	Keratoconus (HP:0000563)	2.12256655
61	Bony spicule pigmentary retinopathy (HP:0007737)	2.11253312
62	Postaxial foot polydactyly (HP:0001830)	2.08817477
63	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.04727751
64	Hip dysplasia (HP:0001385)	2.01828966
65	Hepatic necrosis (HP:0002605)	2.01237303
66	Intestinal atresia (HP:0011100)	2.01152545
67	Sloping forehead (HP:0000340)	1.99013456
68	Abnormal biliary tract physiology (HP:0012439)	1.98399038
69	Bile duct proliferation (HP:0001408)	1.98399038
70	Decreased central vision (HP:0007663)	1.98370847
71	Sclerocornea (HP:0000647)	1.95847156
72	Glioma (HP:0009733)	1.95792763
73	Abnormality of the fovea (HP:0000493)	1.94902310
74	Focal seizures (HP:0007359)	1.93529378
75	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.93033100
76	Abnormal mitochondria in muscle tissue (HP:0008316)	1.92772419
77	Dialeptic seizures (HP:0011146)	1.92533045
78	Congenital hepatic fibrosis (HP:0002612)	1.92229729
79	Abnormality of the astrocytes (HP:0100707)	1.88908788
80	Astrocytoma (HP:0009592)	1.88908788
81	Tubulointerstitial abnormality (HP:0001969)	1.87739295
82	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.86301755
83	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.85433730
84	Absent/shortened dynein arms (HP:0200106)	1.85433730
85	Optic disc pallor (HP:0000543)	1.84755470
86	Methylmalonic acidemia (HP:0002912)	1.82962583
87	Renal cortical cysts (HP:0000803)	1.81683524
88	Irregular epiphyses (HP:0010582)	1.79719286
89	Absent speech (HP:0001344)	1.79507470
90	Progressive cerebellar ataxia (HP:0002073)	1.78815639
91	Severe muscular hypotonia (HP:0006829)	1.78492287
92	Anencephaly (HP:0002323)	1.78445852
93	Astigmatism (HP:0000483)	1.78332443
94	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.76987125
95	Poor coordination (HP:0002370)	1.76585603
96	Postaxial hand polydactyly (HP:0001162)	1.75516625
97	Chromsome breakage (HP:0040012)	1.75009492
98	Increased serum lactate (HP:0002151)	1.74835723
99	Fair hair (HP:0002286)	1.73471936
100	Broad-based gait (HP:0002136)	1.73150399

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.77733419
2	ZAK	3.39472082
3	NUAK1	2.68126169
4	WNK3	2.63100231
5	STK38L	2.40359354
6	BMPR1B	2.37656562
7	CASK	2.36617015
8	EIF2AK3	2.30471244
9	MAP4K2	2.28182399
10	ADRBK2	2.26658042
11	MKNK2	2.15121204
12	OXSR1	2.09830515
13	TRIM28	2.07463994
14	ACVR1B	2.01264575
15	PINK1	1.97903221
16	MST4	1.92788921
17	GRK1	1.74111069
18	EIF2AK1	1.73061786
19	BCR	1.64949901
20	LATS1	1.59507623
21	BRSK2	1.49675518
22	BCKDK	1.49608313
23	CDK19	1.46022739
24	MAPK13	1.40073267
25	VRK2	1.38201514
26	PLK2	1.31658300
27	STK39	1.30003083
28	PLK3	1.29274306
29	TNIK	1.24807024
30	MAP3K4	1.24238958
31	MKNK1	1.22907251
32	PBK	1.21356198
33	NLK	1.16795731
34	VRK1	1.16384679
35	CSNK1G1	1.14737700
36	TAF1	1.13850779
37	PAK3	1.03566372
38	CSNK1G2	1.01925180
39	CSNK1A1L	1.01039709
40	STK3	1.00811182
41	CSNK1G3	1.00173307
42	PRKCE	0.97792028
43	FLT3	0.96916048
44	WNK4	0.96560271
45	INSRR	0.95903702
46	FER	0.95431445
47	ERBB3	0.93992709
48	ADRBK1	0.82545613
49	WEE1	0.80480026
50	PIK3CA	0.80028142
51	PRKCG	0.79914966
52	PDK2	0.79636096
53	AKT3	0.78897359
54	DAPK2	0.78232719
55	TXK	0.76352136
56	DYRK2	0.75628606
57	TLK1	0.73655222
58	NME1	0.71822513
59	PLK1	0.71568844
60	TGFBR1	0.69197264
61	MAP2K7	0.67985166
62	MUSK	0.64989434
63	NTRK3	0.64638115
64	NEK1	0.64580721
65	TEC	0.64214148
66	PLK4	0.63203352
67	STK24	0.61666053
68	MELK	0.58736710
69	PRKD3	0.55352949
70	TTK	0.53691824
71	PIK3CG	0.52744911
72	CCNB1	0.52562824
73	TNK2	0.51238460
74	MARK1	0.49349640
75	TSSK6	0.46990316
76	GRK5	0.46785542
77	EIF2AK2	0.43948814
78	PRKCI	0.42486431
79	PTK2B	0.42472049
80	CAMKK2	0.42214582
81	ATR	0.41851214
82	PRKAA2	0.40357787
83	PHKG2	0.38687473
84	PHKG1	0.38687473
85	CHEK2	0.38652045
86	CSNK1D	0.38512008
87	STK16	0.38480498
88	ATM	0.38322019
89	FGFR2	0.37467509
90	CAMK2A	0.36483727
91	STK11	0.35601690
92	DAPK1	0.34490362
93	TAOK3	0.34454372
94	CDC7	0.32520961
95	DYRK1A	0.31479749
96	RPS6KA5	0.30554928
97	LMTK2	0.28956966
98	CSNK1A1	0.28909268
99	PRKCQ	0.28149108
100	DYRK3	0.27534276

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.12250442
2	Protein export_Homo sapiens_hsa03060	3.04152964
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.71467178
4	Non-homologous end-joining_Homo sapiens_hsa03450	2.49867379
5	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.46742196
6	* Butanoate metabolism_Homo sapiens_hsa00650	2.42717104
7	Phototransduction_Homo sapiens_hsa04744	2.41208501
8	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.29677011
9	Propanoate metabolism_Homo sapiens_hsa00640	2.22796556
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.12263642
11	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.06400430
12	Homologous recombination_Homo sapiens_hsa03440	2.01127437
13	Fanconi anemia pathway_Homo sapiens_hsa03460	1.99603082
14	Basal transcription factors_Homo sapiens_hsa03022	1.81896817
15	Proteasome_Homo sapiens_hsa03050	1.69210848
16	RNA polymerase_Homo sapiens_hsa03020	1.62412390
17	Steroid biosynthesis_Homo sapiens_hsa00100	1.59460390
18	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.58248860
19	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.56874447
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.51873698
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.51711285
22	Nitrogen metabolism_Homo sapiens_hsa00910	1.48027769
23	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.46889504
24	Olfactory transduction_Homo sapiens_hsa04740	1.43700477
25	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.41946211
26	Fatty acid elongation_Homo sapiens_hsa00062	1.36666896
27	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.34218992
28	One carbon pool by folate_Homo sapiens_hsa00670	1.33855980
29	Selenocompound metabolism_Homo sapiens_hsa00450	1.33761247
30	RNA degradation_Homo sapiens_hsa03018	1.33254068
31	Nicotine addiction_Homo sapiens_hsa05033	1.32627372
32	Fatty acid degradation_Homo sapiens_hsa00071	1.30668641
33	Peroxisome_Homo sapiens_hsa04146	1.28747032
34	Oxidative phosphorylation_Homo sapiens_hsa00190	1.27958921
35	Linoleic acid metabolism_Homo sapiens_hsa00591	1.27477464
36	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.26084165
37	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.25908538
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.23083270
39	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.20888566
40	Sphingolipid metabolism_Homo sapiens_hsa00600	1.19374254
41	Retinol metabolism_Homo sapiens_hsa00830	1.18804572
42	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.15906781
43	Ether lipid metabolism_Homo sapiens_hsa00565	1.13635424
44	Taste transduction_Homo sapiens_hsa04742	1.11967248
45	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.10366264
46	Glutathione metabolism_Homo sapiens_hsa00480	1.06537602
47	beta-Alanine metabolism_Homo sapiens_hsa00410	1.05717518
48	Parkinsons disease_Homo sapiens_hsa05012	1.04749593
49	Chemical carcinogenesis_Homo sapiens_hsa05204	1.03636492
50	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.00555508
51	Caffeine metabolism_Homo sapiens_hsa00232	0.99042592
52	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.98455966
53	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.95984053
54	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.93291956
55	Fatty acid metabolism_Homo sapiens_hsa01212	0.91723539
56	Circadian rhythm_Homo sapiens_hsa04710	0.91721999
57	Purine metabolism_Homo sapiens_hsa00230	0.87911663
58	Regulation of autophagy_Homo sapiens_hsa04140	0.87528547
59	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.87017689
60	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.86231198
61	Sulfur metabolism_Homo sapiens_hsa00920	0.85021911
62	ABC transporters_Homo sapiens_hsa02010	0.83554663
63	* Metabolic pathways_Homo sapiens_hsa01100	0.81167738
64	Mismatch repair_Homo sapiens_hsa03430	0.79211242
65	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.78819373
66	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.78744605
67	Huntingtons disease_Homo sapiens_hsa05016	0.78157049
68	Base excision repair_Homo sapiens_hsa03410	0.77186455
69	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.76221056
70	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.75683764
71	Folate biosynthesis_Homo sapiens_hsa00790	0.75673983
72	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.73985304
73	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.73143678
74	Glycerolipid metabolism_Homo sapiens_hsa00561	0.72375713
75	Pyrimidine metabolism_Homo sapiens_hsa00240	0.71850180
76	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.70167734
77	Morphine addiction_Homo sapiens_hsa05032	0.69164572
78	Collecting duct acid secretion_Homo sapiens_hsa04966	0.66902617
79	Fat digestion and absorption_Homo sapiens_hsa04975	0.63543501
80	Circadian entrainment_Homo sapiens_hsa04713	0.59509402
81	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.58532560
82	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.56948702
83	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.54514113
84	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.52628323
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.51422623
86	GABAergic synapse_Homo sapiens_hsa04727	0.51272030
87	RNA transport_Homo sapiens_hsa03013	0.50037974
88	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.48335292
89	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.47374821
90	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.45999420
91	Glutamatergic synapse_Homo sapiens_hsa04724	0.45546798
92	Salivary secretion_Homo sapiens_hsa04970	0.43967112
93	Pyruvate metabolism_Homo sapiens_hsa00620	0.39661807
94	Alzheimers disease_Homo sapiens_hsa05010	0.39530542
95	Serotonergic synapse_Homo sapiens_hsa04726	0.39459857
96	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.39211926
97	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.38624334
98	Insulin secretion_Homo sapiens_hsa04911	0.36697755
99	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.33416895
100	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.33219074

ACSM6

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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