ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	retinal ganglion cell axon guidance (GO:0031290)	5.21857256
2	cullin deneddylation (GO:0010388)	4.94276599
3	protein deneddylation (GO:0000338)	4.54784041
4	maturation of 5.8S rRNA (GO:0000460)	4.34438189
5	protein K6-linked ubiquitination (GO:0085020)	4.07618789
6	chaperone-mediated protein transport (GO:0072321)	3.80490394
7	DNA deamination (GO:0045006)	3.80369967
8	negative chemotaxis (GO:0050919)	3.63210896
9	protein polyglutamylation (GO:0018095)	3.52902814
10	single strand break repair (GO:0000012)	3.51590424
11	transmission of nerve impulse (GO:0019226)	3.50746918
12	DNA double-strand break processing (GO:0000729)	3.38289191
13	transcription from mitochondrial promoter (GO:0006390)	3.36635453
14	replication fork processing (GO:0031297)	3.28028415
15	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.21842491
16	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.21462436
17	proteasome assembly (GO:0043248)	3.18884925
18	peptidyl-cysteine modification (GO:0018198)	3.15105041
19	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.13899729
20	negative regulation of axon extension involved in axon guidance (GO:0048843)	3.12464782
21	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	3.08216911
22	microtubule severing (GO:0051013)	3.05676691
23	magnesium ion transport (GO:0015693)	3.04313096
24	intraciliary transport (GO:0042073)	3.02200442
25	positive regulation of actin filament depolymerization (GO:0030836)	2.94410935
26	regulation of Rac GTPase activity (GO:0032314)	2.87393329
27	transcription elongation from RNA polymerase I promoter (GO:0006362)	2.84001724
28	negative regulation of axon guidance (GO:1902668)	2.83288572
29	somite rostral/caudal axis specification (GO:0032525)	2.83163132
30	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2.80672851
31	rRNA modification (GO:0000154)	2.80147293
32	GTP biosynthetic process (GO:0006183)	2.79635320
33	positive regulation of cardiac muscle cell differentiation (GO:2000727)	2.77817812
34	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.77412265
35	ganglion development (GO:0061548)	2.77217739
36	striatum development (GO:0021756)	2.76392556
37	respiratory chain complex IV assembly (GO:0008535)	2.76368653
38	protein localization to cilium (GO:0061512)	2.74748594
39	establishment of integrated proviral latency (GO:0075713)	2.71298217
40	L-serine transport (GO:0015825)	2.66904333
41	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.66344417
42	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.66344417
43	isotype switching (GO:0045190)	2.66344417
44	protein-cofactor linkage (GO:0018065)	2.65865587
45	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.65636385
46	UTP biosynthetic process (GO:0006228)	2.64897595
47	ribosome assembly (GO:0042255)	2.64880423
48	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.63707494
49	NADH dehydrogenase complex assembly (GO:0010257)	2.63707494
50	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.63707494
51	protein complex biogenesis (GO:0070271)	2.62795277
52	myelin assembly (GO:0032288)	2.62053575
53	rRNA methylation (GO:0031167)	2.61928697
54	iron-sulfur cluster assembly (GO:0016226)	2.61726143
55	metallo-sulfur cluster assembly (GO:0031163)	2.61726143
56	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.60641652
57	ATP hydrolysis coupled proton transport (GO:0015991)	2.60641652
58	establishment of mitochondrion localization (GO:0051654)	2.59509518
59	dendritic spine morphogenesis (GO:0060997)	2.59441500
60	regulation of cellular amino acid metabolic process (GO:0006521)	2.59157086
61	termination of RNA polymerase I transcription (GO:0006363)	2.57637521
62	regulation of centrosome duplication (GO:0010824)	2.56584605
63	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.54516987
64	regulation of feeding behavior (GO:0060259)	2.54441215
65	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)	2.53683045
66	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.50624065
67	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.49542807
68	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.48069365
69	7-methylguanosine mRNA capping (GO:0006370)	2.47423607
70	cholesterol biosynthetic process (GO:0006695)	2.47067566
71	sterol biosynthetic process (GO:0016126)	2.46611669
72	regulation of helicase activity (GO:0051095)	2.46211075
73	mitochondrial respiratory chain complex assembly (GO:0033108)	2.45925096
74	neuronal ion channel clustering (GO:0045161)	2.45881038
75	DNA demethylation (GO:0080111)	2.44476678
76	histone mRNA metabolic process (GO:0008334)	2.43833615
77	RNA capping (GO:0036260)	2.42162737
78	7-methylguanosine RNA capping (GO:0009452)	2.42162737
79	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.42087666
80	non-recombinational repair (GO:0000726)	2.41569052
81	double-strand break repair via nonhomologous end joining (GO:0006303)	2.41569052
82	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.41257505
83	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.41257505
84	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.41257505
85	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.41218567
86	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.40618246
87	water-soluble vitamin biosynthetic process (GO:0042364)	2.39896984
88	postreplication repair (GO:0006301)	2.39372196
89	protein targeting to mitochondrion (GO:0006626)	2.38413506
90	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.37889775
91	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.37889775
92	organelle disassembly (GO:1903008)	2.36917205
93	primary amino compound metabolic process (GO:1901160)	2.36445511
94	DNA catabolic process, exonucleolytic (GO:0000738)	2.36310172
95	regulation of mesoderm development (GO:2000380)	2.36106308
96	anterograde synaptic vesicle transport (GO:0048490)	2.35301534
97	melanosome transport (GO:0032402)	2.34828288
98	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.32649740
99	intestinal epithelial cell development (GO:0060576)	2.31746761
100	prenylation (GO:0097354)	2.31194103

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.76104230
2	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.58835545
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.15543547
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.00585635
5	TAF15_26573619_Chip-Seq_HEK293_Human	2.73116050
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.68935993
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.66771486
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.62817800
9	EWS_26573619_Chip-Seq_HEK293_Human	2.62031223
10	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.55601293
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.39842341
12	VDR_22108803_ChIP-Seq_LS180_Human	2.39245063
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.28659354
14	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.22904141
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.21756308
16	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.15689018
17	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.12331472
18	P300_19829295_ChIP-Seq_ESCs_Human	2.11996212
19	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.05596051
20	FUS_26573619_Chip-Seq_HEK293_Human	2.04228776
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.03855732
22	GBX2_23144817_ChIP-Seq_PC3_Human	2.01694780
23	IGF1R_20145208_ChIP-Seq_DFB_Human	1.99333831
24	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.94405554
25	ELK1_19687146_ChIP-ChIP_HELA_Human	1.76931273
26	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.75360952
27	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.67155754
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.66017249
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.65193674
30	EZH2_22144423_ChIP-Seq_EOC_Human	1.63730237
31	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.61000741
32	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.60507210
33	VDR_23849224_ChIP-Seq_CD4+_Human	1.58581208
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.58085038
35	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.57813381
36	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54733612
37	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.50155299
38	RNF2_27304074_Chip-Seq_NSC_Mouse	1.49152470
39	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.46423656
40	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.46066038
41	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.44802713
42	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.44393024
43	TP53_22573176_ChIP-Seq_HFKS_Human	1.42982284
44	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.41402141
45	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.39702769
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.39607143
47	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.37805817
48	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.37708587
49	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.37240620
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.37050706
51	BCAT_22108803_ChIP-Seq_LS180_Human	1.36149544
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.34710420
53	AR_25329375_ChIP-Seq_VCAP_Human	1.32125320
54	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.30954639
55	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.30401903
56	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.28632446
57	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.27581313
58	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27453324
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.27290966
60	SOX2_19829295_ChIP-Seq_ESCs_Human	1.27290966
61	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.26845740
62	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.24974541
63	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.23699688
64	MYC_18940864_ChIP-ChIP_HL60_Human	1.22010639
65	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.20749553
66	STAT3_23295773_ChIP-Seq_U87_Human	1.19166685
67	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.19132166
68	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.17738295
69	TCF4_23295773_ChIP-Seq_U87_Human	1.17632671
70	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.17460802
71	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.17306002
72	CBP_20019798_ChIP-Seq_JUKART_Human	1.09265985
73	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.09265985
74	ER_23166858_ChIP-Seq_MCF-7_Human	1.09131403
75	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.08448475
76	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.06505253
77	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.06336966
78	TCF4_22108803_ChIP-Seq_LS180_Human	1.06102883
79	GABP_19822575_ChIP-Seq_HepG2_Human	1.05381540
80	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.05212284
81	IRF1_19129219_ChIP-ChIP_H3396_Human	1.04745652
82	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.04321668
83	DCP1A_22483619_ChIP-Seq_HELA_Human	1.02625405
84	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.01706509
85	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01706509
86	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.01601797
87	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.01370063
88	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.01338069
89	TBX3_20139965_ChIP-Seq_ESCs_Mouse	0.98862039
90	TBX3_20139965_ChIP-Seq_MESCs_Mouse	0.98533890
91	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.97462580
92	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.96915505
93	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.95431805
94	JUN_21703547_ChIP-Seq_K562_Human	0.95339197
95	EOMES_21245162_ChIP-Seq_HESCs_Human	0.95317602
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95114290
97	FOXP3_21729870_ChIP-Seq_TREG_Human	0.94227037
98	P300_18555785_Chip-Seq_ESCs_Mouse	0.91456902
99	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.91378861
100	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.91378861

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008057_abnormal_DNA_replication	3.71628891
2	MP0002102_abnormal_ear_morphology	3.11954869
3	MP0008877_abnormal_DNA_methylation	2.89839141
4	MP0003787_abnormal_imprinting	2.66785135
5	MP0005084_abnormal_gallbladder_morpholo	2.55897046
6	MP0004270_analgesia	2.49137413
7	MP0003890_abnormal_embryonic-extraembry	2.39852062
8	MP0003880_abnormal_central_pattern	2.37837509
9	MP0003195_calcinosis	2.25138188
10	MP0001529_abnormal_vocalization	2.15690894
11	MP0002822_catalepsy	2.10637878
12	MP0001984_abnormal_olfaction	2.10449971
13	MP0008058_abnormal_DNA_repair	2.01203888
14	MP0002938_white_spotting	2.00880065
15	MP0009046_muscle_twitch	2.00770576
16	MP0010030_abnormal_orbit_morphology	1.86118246
17	MP0005367_renal/urinary_system_phenotyp	1.85283751
18	MP0000516_abnormal_urinary_system	1.85283751
19	MP0000427_abnormal_hair_cycle	1.83940558
20	MP0002751_abnormal_autonomic_nervous	1.83477418
21	MP0006276_abnormal_autonomic_nervous	1.82492157
22	MP0000569_abnormal_digit_pigmentation	1.79233695
23	MP0003786_premature_aging	1.70985130
24	MP0002734_abnormal_mechanical_nocicepti	1.67623340
25	MP0003119_abnormal_digestive_system	1.63368287
26	MP0003123_paternal_imprinting	1.61469573
27	MP0010094_abnormal_chromosome_stability	1.59569174
28	MP0003121_genomic_imprinting	1.57336027
29	MP0005248_abnormal_Harderian_gland	1.45554951
30	MP0005551_abnormal_eye_electrophysiolog	1.45517827
31	MP0009745_abnormal_behavioral_response	1.44269009
32	MP0002138_abnormal_hepatobiliary_system	1.42772456
33	MP0000778_abnormal_nervous_system	1.39448710
34	MP0001485_abnormal_pinna_reflex	1.39256076
35	MP0004142_abnormal_muscle_tone	1.36904777
36	MP0003567_abnormal_fetal_cardiomyocyte	1.35572432
37	MP0001968_abnormal_touch/_nociception	1.35320111
38	MP0003718_maternal_effect	1.33628844
39	MP0002184_abnormal_innervation	1.32818397
40	MP0003693_abnormal_embryo_hatching	1.32200395
41	MP0004145_abnormal_muscle_electrophysio	1.30390020
42	MP0005423_abnormal_somatic_nervous	1.25835436
43	MP0002233_abnormal_nose_morphology	1.24632380
44	MP0001486_abnormal_startle_reflex	1.22371635
45	MP0003137_abnormal_impulse_conducting	1.21044098
46	MP0002638_abnormal_pupillary_reflex	1.20730530
47	MP0002837_dystrophic_cardiac_calcinosis	1.18386098
48	MP0002272_abnormal_nervous_system	1.18360808
49	MP0000647_abnormal_sebaceous_gland	1.15593469
50	MP0002736_abnormal_nociception_after	1.15335528
51	MP0003937_abnormal_limbs/digits/tail_de	1.13848059
52	MP0005394_taste/olfaction_phenotype	1.10587530
53	MP0005499_abnormal_olfactory_system	1.10587530
54	MP0005083_abnormal_biliary_tract	1.10472806
55	MP0003122_maternal_imprinting	1.10331326
56	MP0005253_abnormal_eye_physiology	1.10202177
57	MP0008007_abnormal_cellular_replicative	1.08289731
58	MP0002653_abnormal_ependyma_morphology	1.05706194
59	MP0006072_abnormal_retinal_apoptosis	1.04689213
60	MP0004859_abnormal_synaptic_plasticity	1.00857837
61	MP0004957_abnormal_blastocyst_morpholog	1.00060872
62	MP0002572_abnormal_emotion/affect_behav	0.99228971
63	MP0002557_abnormal_social/conspecific_i	0.98995598
64	MP0004215_abnormal_myocardial_fiber	0.98785462
65	MP0002067_abnormal_sensory_capabilities	0.97759189
66	MP0008789_abnormal_olfactory_epithelium	0.97087910
67	MP0003635_abnormal_synaptic_transmissio	0.95877265
68	MP0003878_abnormal_ear_physiology	0.94724024
69	MP0005377_hearing/vestibular/ear_phenot	0.94724024
70	MP0001293_anophthalmia	0.94492329
71	MP0000749_muscle_degeneration	0.90797030
72	MP0000372_irregular_coat_pigmentation	0.90033890
73	MP0000955_abnormal_spinal_cord	0.89714472
74	MP0001929_abnormal_gametogenesis	0.89144636
75	MP0004811_abnormal_neuron_physiology	0.88848802
76	MP0004924_abnormal_behavior	0.88848174
77	MP0005386_behavior/neurological_phenoty	0.88848174
78	MP0000631_abnormal_neuroendocrine_gland	0.87972828
79	MP0002752_abnormal_somatic_nervous	0.87938273
80	MP0003646_muscle_fatigue	0.87739578
81	MP0008932_abnormal_embryonic_tissue	0.87508799
82	MP0002160_abnormal_reproductive_system	0.85485419
83	MP0002282_abnormal_trachea_morphology	0.85468467
84	MP0009703_decreased_birth_body	0.84181013
85	MP0003329_amyloid_beta_deposits	0.84149341
86	MP0001905_abnormal_dopamine_level	0.84038201
87	MP0002909_abnormal_adrenal_gland	0.83548170
88	MP0006035_abnormal_mitochondrial_morpho	0.83382411
89	MP0000653_abnormal_sex_gland	0.82649596
90	MP0002064_seizures	0.81102563
91	MP0009672_abnormal_birth_weight	0.80383530
92	MP0000358_abnormal_cell_content/	0.79274691
93	MP0005266_abnormal_metabolism	0.78752698
94	MP0001727_abnormal_embryo_implantation	0.77971818
95	MP0002210_abnormal_sex_determination	0.77898064
96	MP0000383_abnormal_hair_follicle	0.74098568
97	MP0003698_abnormal_male_reproductive	0.72638166
98	MP0010678_abnormal_skin_adnexa	0.72210520
99	MP0002063_abnormal_learning/memory/cond	0.70711852
100	MP0001145_abnormal_male_reproductive	0.69709009

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	3.61903969
2	Abnormality of midbrain morphology (HP:0002418)	3.61903969
3	Birth length less than 3rd percentile (HP:0003561)	3.59730888
4	Pancreatic cysts (HP:0001737)	3.48895865
5	Hypomagnesemia (HP:0002917)	3.28490751
6	Abnormality of the labia minora (HP:0012880)	3.21577229
7	Carpal bone hypoplasia (HP:0001498)	3.00548975
8	Adactyly (HP:0009776)	2.80755756
9	Nephronophthisis (HP:0000090)	2.65071963
10	Large for gestational age (HP:0001520)	2.56712874
11	Broad-based gait (HP:0002136)	2.55161194
12	Stenosis of the external auditory canal (HP:0000402)	2.53474874
13	True hermaphroditism (HP:0010459)	2.51419852
14	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.50132607
15	Acute necrotizing encephalopathy (HP:0006965)	2.43257888
16	Abnormality of magnesium homeostasis (HP:0004921)	2.40437119
17	Abnormality of the renal cortex (HP:0011035)	2.40201919
18	Bile duct proliferation (HP:0001408)	2.39200292
19	Abnormal biliary tract physiology (HP:0012439)	2.39200292
20	Pancreatic fibrosis (HP:0100732)	2.36439181
21	Bifid tongue (HP:0010297)	2.35369135
22	Meckel diverticulum (HP:0002245)	2.34188116
23	Abnormality of the renal medulla (HP:0100957)	2.33341773
24	Abnormality of the ileum (HP:0001549)	2.31339905
25	Amyotrophic lateral sclerosis (HP:0007354)	2.29433993
26	Abnormality of chromosome stability (HP:0003220)	2.28752962
27	Aplasia/hypoplasia of the uterus (HP:0008684)	2.27689652
28	Congenital hepatic fibrosis (HP:0002612)	2.25057938
29	Horseshoe kidney (HP:0000085)	2.22146189
30	Progressive macrocephaly (HP:0004481)	2.21056344
31	Absent radius (HP:0003974)	2.20923249
32	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.19732362
33	Polydipsia (HP:0001959)	2.17979202
34	Abnormal drinking behavior (HP:0030082)	2.17979202
35	Oligodactyly (hands) (HP:0001180)	2.17453304
36	Aplasia involving forearm bones (HP:0009822)	2.12843668
37	Absent forearm bone (HP:0003953)	2.12843668
38	Increased serum pyruvate (HP:0003542)	2.11671356
39	Abnormal mitochondria in muscle tissue (HP:0008316)	2.09098931
40	Preaxial hand polydactyly (HP:0001177)	2.08616159
41	Increased CSF lactate (HP:0002490)	2.07763572
42	Abnormality of the lower motor neuron (HP:0002366)	2.06849821
43	Epileptiform EEG discharges (HP:0011182)	2.06115285
44	Prominent metopic ridge (HP:0005487)	2.05612686
45	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.04545620
46	Ketoacidosis (HP:0001993)	2.03842583
47	EEG with generalized epileptiform discharges (HP:0011198)	2.03184324
48	Abnormality of glycolysis (HP:0004366)	2.02975838
49	Abnormality of macular pigmentation (HP:0008002)	2.02969132
50	Abnormality of the metopic suture (HP:0005556)	2.02961179
51	Hypsarrhythmia (HP:0002521)	2.01209808
52	Short tibia (HP:0005736)	1.99999709
53	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.99584316
54	Absent speech (HP:0001344)	1.96568367
55	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.95489131
56	Acute encephalopathy (HP:0006846)	1.94921974
57	Sclerocornea (HP:0000647)	1.94216120
58	Long clavicles (HP:0000890)	1.93473617
59	Pancreatic islet-cell hyperplasia (HP:0004510)	1.92835003
60	Medial flaring of the eyebrow (HP:0010747)	1.92539413
61	Mitochondrial inheritance (HP:0001427)	1.92269340
62	Chorioretinal coloboma (HP:0000567)	1.91169625
63	Cerebral hypomyelination (HP:0006808)	1.91128359
64	Tetany (HP:0001281)	1.90151759
65	Renal cortical cysts (HP:0000803)	1.88460943
66	Symptomatic seizures (HP:0011145)	1.87655129
67	Narrow forehead (HP:0000341)	1.87468613
68	Abnormal protein glycosylation (HP:0012346)	1.86911738
69	Abnormal glycosylation (HP:0012345)	1.86911738
70	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.86911738
71	Abnormal protein N-linked glycosylation (HP:0012347)	1.86911738
72	Hypoplastic female external genitalia (HP:0012815)	1.86654513
73	Labial hypoplasia (HP:0000066)	1.85610264
74	Type I transferrin isoform profile (HP:0003642)	1.85010036
75	Renal hypoplasia (HP:0000089)	1.84571146
76	Glycosuria (HP:0003076)	1.84056947
77	Abnormality of urine glucose concentration (HP:0011016)	1.84056947
78	Microvesicular hepatic steatosis (HP:0001414)	1.81822005
79	Gait imbalance (HP:0002141)	1.79357682
80	Postaxial foot polydactyly (HP:0001830)	1.79067502
81	Hypoglycemic coma (HP:0001325)	1.78879257
82	Congenital primary aphakia (HP:0007707)	1.77856930
83	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.77662300
84	Postaxial hand polydactyly (HP:0001162)	1.77119393
85	Vaginal atresia (HP:0000148)	1.76340493
86	Genital tract atresia (HP:0001827)	1.75205154
87	Hepatic necrosis (HP:0002605)	1.71659736
88	Tetraparesis (HP:0002273)	1.71439059
89	Optic nerve coloboma (HP:0000588)	1.71060502
90	Hypoplastic labia majora (HP:0000059)	1.70173680
91	Abnormality of the pubic bones (HP:0003172)	1.69511360
92	Small hand (HP:0200055)	1.69147659
93	Oculomotor apraxia (HP:0000657)	1.68142938
94	Hyperphosphaturia (HP:0003109)	1.67707658
95	Aqueductal stenosis (HP:0002410)	1.66281166
96	Increased circulating renin level (HP:0000848)	1.64903500
97	Volvulus (HP:0002580)	1.64680879
98	Ectopic kidney (HP:0000086)	1.63340575
99	Cystic liver disease (HP:0006706)	1.62917694
100	Nephrogenic diabetes insipidus (HP:0009806)	1.62585126

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TRIM28	4.96396529
2	FRK	3.72151116
3	MST4	2.96711478
4	TSSK6	2.84090004
5	MAP2K7	2.83946148
6	MAP3K4	2.82222893
7	BMPR1B	2.53583168
8	SRPK1	2.32516190
9	WNK3	2.28310544
10	PDK2	2.27808495
11	LIMK1	2.16037243
12	CASK	2.10026503
13	BCR	2.03463548
14	EPHA4	1.95229068
15	NUAK1	1.90163982
16	DYRK3	1.79266446
17	BUB1	1.75443345
18	TNIK	1.65271069
19	TESK1	1.60702318
20	PBK	1.52706954
21	SIK3	1.37731130
22	PLK3	1.35160917
23	DAPK2	1.34946712
24	STK16	1.34108602
25	ACVR1B	1.32698674
26	MARK1	1.29763084
27	DYRK2	1.29020002
28	EPHB1	1.28061172
29	EPHA3	1.27124867
30	PLK2	1.22184236
31	ZAK	1.22136399
32	CSNK1A1L	1.19537536
33	DAPK1	1.17127794
34	CSNK1G2	1.10281184
35	PINK1	1.07274615
36	RPS6KA4	1.05868536
37	FGFR2	1.04699973
38	CSNK1G3	1.02041103
39	MAP2K4	0.98164811
40	ADRBK2	0.96934067
41	CSNK1G1	0.96415316
42	GRK7	0.96316946
43	MINK1	0.96263089
44	MAP3K12	0.93445585
45	VRK2	0.93136244
46	PLK4	0.83983811
47	MKNK2	0.81997605
48	MAP3K6	0.81888694
49	VRK1	0.81807697
50	AKT3	0.80557220
51	NTRK3	0.78097933
52	EIF2AK3	0.76663020
53	GRK1	0.74178143
54	PASK	0.74060269
55	PHKG1	0.73220863
56	PHKG2	0.73220863
57	TIE1	0.72292934
58	PAK3	0.70659056
59	PNCK	0.69598292
60	STK24	0.69357281
61	PLK1	0.67711081
62	CCNB1	0.67625247
63	OXSR1	0.65539388
64	TGFBR1	0.63704952
65	MAP4K2	0.63266682
66	MKNK1	0.62864400
67	ATM	0.62645384
68	INSRR	0.61360206
69	FER	0.60669664
70	ATR	0.59590396
71	CAMK2A	0.57756694
72	TESK2	0.56697839
73	PRKCE	0.56587333
74	PRKCG	0.54546298
75	OBSCN	0.54461943
76	ILK	0.53622558
77	CDC7	0.51653672
78	CDK3	0.51097653
79	CAMKK2	0.50447672
80	ADRBK1	0.49988726
81	ERBB3	0.48388881
82	NEK1	0.47425348
83	DMPK	0.45395742
84	PAK6	0.41593287
85	PRKG1	0.40949519
86	CAMK2D	0.39506921
87	CAMK2G	0.38657763
88	BCKDK	0.38284008
89	IRAK1	0.37922135
90	STK39	0.37172929
91	MYLK	0.35708850
92	RPS6KA5	0.35568040
93	CSNK1A1	0.33474860
94	PRKDC	0.32968525
95	CAMK1G	0.32151911
96	EIF2AK1	0.32000405
97	MAP3K5	0.30099628
98	CSNK1E	0.27719821
99	MAPK13	0.27592763
100	PRKACA	0.27529393

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Non-homologous end-joining_Homo sapiens_hsa03450	3.67240107
2	Proteasome_Homo sapiens_hsa03050	3.66798429
3	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.80633698
4	Basal transcription factors_Homo sapiens_hsa03022	2.54289450
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.46276783
6	Protein export_Homo sapiens_hsa03060	2.40149396
7	Steroid biosynthesis_Homo sapiens_hsa00100	2.36815499
8	Nicotine addiction_Homo sapiens_hsa05033	2.31212942
9	RNA degradation_Homo sapiens_hsa03018	2.25000062
10	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.11344872
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.10883107
12	Propanoate metabolism_Homo sapiens_hsa00640	1.98285451
13	Collecting duct acid secretion_Homo sapiens_hsa04966	1.93686511
14	Parkinsons disease_Homo sapiens_hsa05012	1.90042874
15	Fanconi anemia pathway_Homo sapiens_hsa03460	1.89357518
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.88276723
17	Butanoate metabolism_Homo sapiens_hsa00650	1.75582616
18	Regulation of autophagy_Homo sapiens_hsa04140	1.69825746
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.68598804
20	Sulfur metabolism_Homo sapiens_hsa00920	1.62554353
21	Mismatch repair_Homo sapiens_hsa03430	1.61073073
22	Fatty acid elongation_Homo sapiens_hsa00062	1.56775897
23	Homologous recombination_Homo sapiens_hsa03440	1.53179197
24	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.53124152
25	Huntingtons disease_Homo sapiens_hsa05016	1.48590643
26	RNA polymerase_Homo sapiens_hsa03020	1.48147369
27	Nucleotide excision repair_Homo sapiens_hsa03420	1.45651606
28	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.45513622
29	RNA transport_Homo sapiens_hsa03013	1.42240703
30	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.33436236
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.31543988
32	Folate biosynthesis_Homo sapiens_hsa00790	1.25896330
33	Peroxisome_Homo sapiens_hsa04146	1.24385266
34	Phototransduction_Homo sapiens_hsa04744	1.24248968
35	Alzheimers disease_Homo sapiens_hsa05010	1.09440647
36	Selenocompound metabolism_Homo sapiens_hsa00450	1.06898848
37	Pyruvate metabolism_Homo sapiens_hsa00620	1.03556278
38	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.02466823
39	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.01015428
40	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.99616975
41	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.98968124
42	Lysine degradation_Homo sapiens_hsa00310	0.98545215
43	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.94133071
44	Fatty acid degradation_Homo sapiens_hsa00071	0.93800089
45	Nitrogen metabolism_Homo sapiens_hsa00910	0.93168375
46	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.91759666
47	Purine metabolism_Homo sapiens_hsa00230	0.91346347
48	Vibrio cholerae infection_Homo sapiens_hsa05110	0.90961224
49	beta-Alanine metabolism_Homo sapiens_hsa00410	0.89844808
50	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.89698390
51	Insulin secretion_Homo sapiens_hsa04911	0.89458827
52	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.86423553
53	Morphine addiction_Homo sapiens_hsa05032	0.85984538
54	Taste transduction_Homo sapiens_hsa04742	0.84885548
55	DNA replication_Homo sapiens_hsa03030	0.83243063
56	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.81566052
57	Spliceosome_Homo sapiens_hsa03040	0.79594368
58	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.78793919
59	Pyrimidine metabolism_Homo sapiens_hsa00240	0.78335536
60	One carbon pool by folate_Homo sapiens_hsa00670	0.73531056
61	Arginine and proline metabolism_Homo sapiens_hsa00330	0.72656967
62	GABAergic synapse_Homo sapiens_hsa04727	0.69754680
63	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.69127655
64	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.67361446
65	Cardiac muscle contraction_Homo sapiens_hsa04260	0.66007600
66	Oocyte meiosis_Homo sapiens_hsa04114	0.65290057
67	Metabolic pathways_Homo sapiens_hsa01100	0.64351815
68	Sulfur relay system_Homo sapiens_hsa04122	0.63084439
69	Circadian entrainment_Homo sapiens_hsa04713	0.62470220
70	Axon guidance_Homo sapiens_hsa04360	0.62165914
71	Circadian rhythm_Homo sapiens_hsa04710	0.56495717
72	Wnt signaling pathway_Homo sapiens_hsa04310	0.55169214
73	Olfactory transduction_Homo sapiens_hsa04740	0.52365533
74	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.52354717
75	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.52225009
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.51124753
77	Glutathione metabolism_Homo sapiens_hsa00480	0.50831927
78	Cell cycle_Homo sapiens_hsa04110	0.48355334
79	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.48195076
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.47578329
81	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.45570002
82	Hippo signaling pathway_Homo sapiens_hsa04390	0.43477872
83	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.43418920
84	Caffeine metabolism_Homo sapiens_hsa00232	0.42957326
85	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.42124210
86	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.41012317
87	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.40596454
88	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.40361258
89	Amphetamine addiction_Homo sapiens_hsa05031	0.39772062
90	Histidine metabolism_Homo sapiens_hsa00340	0.39490410
91	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.39260984
92	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.39077294
93	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.38453713
94	Dopaminergic synapse_Homo sapiens_hsa04728	0.37700492
95	mRNA surveillance pathway_Homo sapiens_hsa03015	0.37171846
96	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.37081955
97	Basal cell carcinoma_Homo sapiens_hsa05217	0.35804971
98	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.35574701
99	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.35337691
100	p53 signaling pathway_Homo sapiens_hsa04115	0.33928886

MAPRE1P1

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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