ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of penile erection (GO:0060405)	9.11846159
2	limb bud formation (GO:0060174)	6.97744838
3	otic vesicle formation (GO:0030916)	5.79571423
4	presynaptic membrane assembly (GO:0097105)	5.46771331
5	behavioral response to ethanol (GO:0048149)	5.27982122
6	short-term memory (GO:0007614)	4.99862090
7	forebrain neuron differentiation (GO:0021879)	4.67887911
8	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	4.62344063
9	negative regulation of translation, ncRNA-mediated (GO:0040033)	4.62344063
10	regulation of translation, ncRNA-mediated (GO:0045974)	4.62344063
11	presynaptic membrane organization (GO:0097090)	4.24044949
12	protein K11-linked deubiquitination (GO:0035871)	4.16868671
13	positive regulation of protein homodimerization activity (GO:0090073)	3.95431562
14	motile cilium assembly (GO:0044458)	3.92575416
15	positive regulation of dendritic spine morphogenesis (GO:0061003)	3.76091457
16	neural tube formation (GO:0001841)	3.73953023
17	transcription from mitochondrial promoter (GO:0006390)	3.58198696
18	fucose catabolic process (GO:0019317)	3.56708688
19	L-fucose metabolic process (GO:0042354)	3.56708688
20	L-fucose catabolic process (GO:0042355)	3.56708688
21	regulation of sarcomere organization (GO:0060297)	3.52585757
22	cardiac ventricle formation (GO:0003211)	3.43844964
23	DNA damage response, detection of DNA damage (GO:0042769)	3.41599176
24	auditory behavior (GO:0031223)	3.40267778
25	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	3.40168548
26	mitochondrial DNA replication (GO:0006264)	3.36924447
27	negative regulation of potassium ion transport (GO:0043267)	3.32338253
28	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	3.31569876
29	DNA replication-dependent nucleosome assembly (GO:0006335)	3.31421258
30	DNA replication-dependent nucleosome organization (GO:0034723)	3.31421258
31	ubiquinone biosynthetic process (GO:0006744)	3.29542408
32	response to folic acid (GO:0051593)	3.26507892
33	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.25665015
34	nonmotile primary cilium assembly (GO:0035058)	3.25018547
35	notochord development (GO:0030903)	3.24060053
36	cardiac chamber formation (GO:0003207)	3.21883084
37	lysine metabolic process (GO:0006553)	3.20170786
38	lysine catabolic process (GO:0006554)	3.20170786
39	sympathetic nervous system development (GO:0048485)	3.19382770
40	tolerance induction (GO:0002507)	3.16798254
41	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.16205673
42	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.16205673
43	mitochondrial genome maintenance (GO:0000002)	3.15366228
44	DNA double-strand break processing (GO:0000729)	3.09813352
45	centriole assembly (GO:0098534)	3.07529329
46	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	3.03773124
47	somite development (GO:0061053)	3.03371383
48	protein K6-linked ubiquitination (GO:0085020)	3.03183908
49	protein polyglutamylation (GO:0018095)	2.96579786
50	positive regulation of reproductive process (GO:2000243)	2.94634013
51	Sertoli cell development (GO:0060009)	2.94480125
52	retinal rod cell development (GO:0046548)	2.92374094
53	cardiac right ventricle morphogenesis (GO:0003215)	2.91351418
54	glial cell proliferation (GO:0014009)	2.90583631
55	aspartate family amino acid catabolic process (GO:0009068)	2.87894502
56	ubiquinone metabolic process (GO:0006743)	2.85566994
57	eye photoreceptor cell differentiation (GO:0001754)	2.85548200
58	photoreceptor cell differentiation (GO:0046530)	2.85548200
59	branched-chain amino acid catabolic process (GO:0009083)	2.82747771
60	DNA catabolic process, exonucleolytic (GO:0000738)	2.80871937
61	DNA integration (GO:0015074)	2.77473359
62	positive regulation of vasodilation (GO:0045909)	2.76498320
63	venous blood vessel morphogenesis (GO:0048845)	2.75784811
64	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.75626649
65	chaperone-mediated protein transport (GO:0072321)	2.73201209
66	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.71628911
67	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.71438881
68	postsynaptic membrane organization (GO:0001941)	2.70796600
69	inner mitochondrial membrane organization (GO:0007007)	2.68098320
70	spinal cord development (GO:0021510)	2.65876458
71	regulation of actin filament-based movement (GO:1903115)	2.61810545
72	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.59993926
73	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	2.59796220
74	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	2.59796220
75	protein targeting to Golgi (GO:0000042)	2.57707062
76	regulation of sensory perception (GO:0051931)	2.56892600
77	regulation of sensory perception of pain (GO:0051930)	2.56892600
78	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.55493870
79	regulation of cardiac muscle cell contraction (GO:0086004)	2.54893432
80	mechanosensory behavior (GO:0007638)	2.54799491
81	pericardium development (GO:0060039)	2.54177865
82	regulation of retinoic acid receptor signaling pathway (GO:0048385)	2.54005945
83	neuron cell-cell adhesion (GO:0007158)	2.50773413
84	regulation of dendritic spine morphogenesis (GO:0061001)	2.49685383
85	positive regulation of adenylate cyclase activity (GO:0045762)	2.49360143
86	base-excision repair, AP site formation (GO:0006285)	2.49188279
87	quinone biosynthetic process (GO:1901663)	2.47251720
88	positive regulation of mRNA 3-end processing (GO:0031442)	2.46557635
89	positive regulation of synapse assembly (GO:0051965)	2.46352878
90	embryonic epithelial tube formation (GO:0001838)	2.45897898
91	termination of RNA polymerase III transcription (GO:0006386)	2.45592316
92	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.45592316
93	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.45333764
94	isotype switching (GO:0045190)	2.45333764
95	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.45333764
96	cell proliferation in forebrain (GO:0021846)	2.45195568
97	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.44653539
98	male meiosis I (GO:0007141)	2.44443242
99	prostate gland growth (GO:0060736)	2.43798369
100	cardiac myofibril assembly (GO:0055003)	2.43347956

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.33137679
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.72651268
3	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	4.35611446
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.34387168
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	4.00058301
6	VDR_22108803_ChIP-Seq_LS180_Human	3.51977209
7	EZH2_22144423_ChIP-Seq_EOC_Human	3.19429854
8	GBX2_23144817_ChIP-Seq_PC3_Human	3.03924010
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.63528749
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.60404491
11	E2F7_22180533_ChIP-Seq_HELA_Human	2.45164075
12	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.40866929
13	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.35267176
14	FUS_26573619_Chip-Seq_HEK293_Human	2.34616965
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.29096307
16	EWS_26573619_Chip-Seq_HEK293_Human	2.23600588
17	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.20584904
18	P300_19829295_ChIP-Seq_ESCs_Human	2.11011047
19	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.10087051
20	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.08226189
21	TAF15_26573619_Chip-Seq_HEK293_Human	2.03803768
22	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.91607615
23	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.87966034
24	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.77712651
25	IGF1R_20145208_ChIP-Seq_DFB_Human	1.72674654
26	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.69306859
27	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.67645305
28	AR_21572438_ChIP-Seq_LNCaP_Human	1.63204382
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.61785183
30	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.61223027
31	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.60768438
32	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.60225247
33	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.59358414
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.58952744
35	GATA1_22025678_ChIP-Seq_K562_Human	1.55366057
36	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.49799695
37	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.49164838
38	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.46640932
39	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.43966278
40	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.42162610
41	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.41730655
42	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.40915630
43	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.40236756
44	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.39444253
45	ELK1_19687146_ChIP-ChIP_HELA_Human	1.38562684
46	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.36965140
47	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.36001971
48	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.33895912
49	CBP_20019798_ChIP-Seq_JUKART_Human	1.33139180
50	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.33139180
51	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.32997627
52	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.32997627
53	SMAD4_21799915_ChIP-Seq_A2780_Human	1.32654416
54	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31045757
55	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.30885244
56	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.29415677
57	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.27225322
58	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.25619734
59	RNF2_27304074_Chip-Seq_NSC_Mouse	1.25544900
60	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.25412768
61	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.23073434
62	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.20990414
63	ER_23166858_ChIP-Seq_MCF-7_Human	1.18994758
64	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.18640212
65	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.17857751
66	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.16979690
67	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.16526196
68	BCAT_22108803_ChIP-Seq_LS180_Human	1.12352364
69	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.11774722
70	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.10728914
71	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.09675658
72	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.09629549
73	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.09283920
74	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.09032890
75	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08107216
76	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.08049229
77	VDR_23849224_ChIP-Seq_CD4+_Human	1.07463010
78	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.06671564
79	SOX9_26525672_Chip-Seq_HEART_Mouse	1.05060353
80	TCF4_23295773_ChIP-Seq_U87_Human	1.04838897
81	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.04799872
82	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.04555208
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.04334338
84	STAT3_23295773_ChIP-Seq_U87_Human	1.03492734
85	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.02358209
86	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.01096457
87	TP53_16413492_ChIP-PET_HCT116_Human	1.01042485
88	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.00685324
89	TCF4_22108803_ChIP-Seq_LS180_Human	0.99103332
90	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	0.98841233
91	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.97949253
92	FOXP3_21729870_ChIP-Seq_TREG_Human	0.97814191
93	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.97807914
94	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.94657303
95	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.94471431
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.93749004
97	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.93463306
98	AR_20517297_ChIP-Seq_VCAP_Human	0.92705677
99	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.91909526
100	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.91909526

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000566_synostosis	5.12097730
2	MP0006292_abnormal_olfactory_placode	2.78578986
3	MP0003011_delayed_dark_adaptation	2.76248426
4	MP0002837_dystrophic_cardiac_calcinosis	2.69627071
5	MP0001529_abnormal_vocalization	2.37233654
6	MP0001984_abnormal_olfaction	2.36652940
7	MP0003880_abnormal_central_pattern	2.36624324
8	MP0002751_abnormal_autonomic_nervous	2.30508606
9	MP0002282_abnormal_trachea_morphology	2.20019653
10	MP0006072_abnormal_retinal_apoptosis	2.17483776
11	MP0008058_abnormal_DNA_repair	2.14283750
12	MP0005647_abnormal_sex_gland	2.14209709
13	MP0010368_abnormal_lymphatic_system	2.13820910
14	MP0004215_abnormal_myocardial_fiber	1.99596133
15	MP0005645_abnormal_hypothalamus_physiol	1.96416430
16	MP0002127_abnormal_cardiovascular_syste	1.96308940
17	MP0004134_abnormal_chest_morphology	1.95336373
18	MP0010030_abnormal_orbit_morphology	1.93806321
19	MP0003646_muscle_fatigue	1.89597559
20	MP0005253_abnormal_eye_physiology	1.84201874
21	MP0003137_abnormal_impulse_conducting	1.81142621
22	MP0003121_genomic_imprinting	1.72313133
23	MP0003943_abnormal_hepatobiliary_system	1.69075837
24	MP0005551_abnormal_eye_electrophysiolog	1.66768364
25	MP0000465_gastrointestinal_hemorrhage	1.65795521
26	MP0004084_abnormal_cardiac_muscle	1.55739267
27	MP0006054_spinal_hemorrhage	1.53966855
28	MP0002295_abnormal_pulmonary_circulatio	1.45957971
29	MP0008789_abnormal_olfactory_epithelium	1.43049665
30	MP0003122_maternal_imprinting	1.41543626
31	MP0010094_abnormal_chromosome_stability	1.41314842
32	MP0010307_abnormal_tumor_latency	1.39545796
33	MP0000631_abnormal_neuroendocrine_gland	1.37860954
34	MP0008932_abnormal_embryonic_tissue	1.31116880
35	MP0000049_abnormal_middle_ear	1.29447141
36	MP0000538_abnormal_urinary_bladder	1.28298306
37	MP0000383_abnormal_hair_follicle	1.27060053
38	MP0001293_anophthalmia	1.26685037
39	MP0002736_abnormal_nociception_after	1.25494558
40	MP0002098_abnormal_vibrissa_morphology	1.25325321
41	MP0004510_myositis	1.23393066
42	MP0000427_abnormal_hair_cycle	1.20904321
43	MP0003938_abnormal_ear_development	1.20705434
44	MP0002938_white_spotting	1.20344575
45	MP0004085_abnormal_heartbeat	1.19906998
46	MP0003136_yellow_coat_color	1.18973438
47	MP0003567_abnormal_fetal_cardiomyocyte	1.17028288
48	MP0000762_abnormal_tongue_morphology	1.16525246
49	MP0001299_abnormal_eye_distance/	1.14381797
50	MP0009745_abnormal_behavioral_response	1.12734148
51	MP0004885_abnormal_endolymph	1.12701044
52	MP0005408_hypopigmentation	1.03172978
53	MP0008775_abnormal_heart_ventricle	1.02846743
54	MP0000026_abnormal_inner_ear	1.02299827
55	MP0003890_abnormal_embryonic-extraembry	1.01685064
56	MP0000778_abnormal_nervous_system	0.99417685
57	MP0005075_abnormal_melanosome_morpholog	0.98979110
58	MP0005391_vision/eye_phenotype	0.98465677
59	MP0001286_abnormal_eye_development	0.97425707
60	MP0005646_abnormal_pituitary_gland	0.95331921
61	MP0002972_abnormal_cardiac_muscle	0.94938525
62	MP0002638_abnormal_pupillary_reflex	0.94829308
63	MP0000579_abnormal_nail_morphology	0.94114811
64	MP0003937_abnormal_limbs/digits/tail_de	0.92603491
65	MP0001544_abnormal_cardiovascular_syste	0.92211442
66	MP0005385_cardiovascular_system_phenoty	0.92211442
67	MP0002928_abnormal_bile_duct	0.88794633
68	MP0009046_muscle_twitch	0.87180315
69	MP0006138_congestive_heart_failure	0.86711302
70	MP0002752_abnormal_somatic_nervous	0.84495174
71	MP0001177_atelectasis	0.83561895
72	MP0002272_abnormal_nervous_system	0.83553155
73	MP0001968_abnormal_touch/_nociception	0.83423875
74	MP0001324_abnormal_eye_pigmentation	0.81487541
75	MP0005670_abnormal_white_adipose	0.81132423
76	MP0005195_abnormal_posterior_eye	0.80014242
77	MP0002735_abnormal_chemical_nociception	0.79798692
78	MP0001853_heart_inflammation	0.79778720
79	MP0004145_abnormal_muscle_electrophysio	0.79562130
80	MP0002095_abnormal_skin_pigmentation	0.79554308
81	MP0005386_behavior/neurological_phenoty	0.79084386
82	MP0004924_abnormal_behavior	0.79084386
83	MP0003786_premature_aging	0.77239744
84	MP0008872_abnormal_physiological_respon	0.76991465
85	MP0006276_abnormal_autonomic_nervous	0.76539523
86	MP0001666_abnormal_nutrient_absorption	0.76461556
87	MP0000467_abnormal_esophagus_morphology	0.75158784
88	MP0008004_abnormal_stomach_pH	0.74771758
89	MP0001879_abnormal_lymphatic_vessel	0.74301963
90	MP0002160_abnormal_reproductive_system	0.73508271
91	MP0000647_abnormal_sebaceous_gland	0.72659363
92	MP0001958_emphysema	0.72537585
93	MP0005394_taste/olfaction_phenotype	0.71131932
94	MP0005499_abnormal_olfactory_system	0.71131932
95	MP0000462_abnormal_digestive_system	0.70974650
96	MP0002102_abnormal_ear_morphology	0.70637092
97	MP0004484_altered_response_of	0.70637054
98	MP0002233_abnormal_nose_morphology	0.69512638
99	MP0003718_maternal_effect	0.68938980
100	MP0005389_reproductive_system_phenotype	0.68843491

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperventilation (HP:0002883)	4.10901978
2	True hermaphroditism (HP:0010459)	3.63508831
3	Partial duplication of thumb phalanx (HP:0009944)	3.52278778
4	Conical tooth (HP:0000698)	3.38528985
5	Cupped ear (HP:0000378)	3.34976109
6	Cortical dysplasia (HP:0002539)	3.29680022
7	Abnormality of incisor morphology (HP:0011063)	3.19434889
8	Thickened helices (HP:0000391)	3.15807332
9	Megalencephaly (HP:0001355)	3.04433505
10	Partial duplication of the phalanx of hand (HP:0009999)	2.98455858
11	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	2.83784134
12	Coronal craniosynostosis (HP:0004440)	2.79910995
13	Medulloblastoma (HP:0002885)	2.79477673
14	Gonadotropin excess (HP:0000837)	2.76430528
15	Stenosis of the external auditory canal (HP:0000402)	2.65676814
16	Abnormality of the labia minora (HP:0012880)	2.60926386
17	Type II lissencephaly (HP:0007260)	2.57224199
18	Bilateral microphthalmos (HP:0007633)	2.56846307
19	Neonatal short-limb short stature (HP:0008921)	2.56736752
20	Down-sloping shoulders (HP:0200021)	2.56214497
21	Bundle branch block (HP:0011710)	2.46111827
22	Bifid scrotum (HP:0000048)	2.45482661
23	Vaginal atresia (HP:0000148)	2.43761711
24	Abnormality of macular pigmentation (HP:0008002)	2.43268059
25	Intestinal atresia (HP:0011100)	2.42448468
26	Increased corneal curvature (HP:0100692)	2.41921411
27	Keratoconus (HP:0000563)	2.41921411
28	Sclerocornea (HP:0000647)	2.39614846
29	Aqueductal stenosis (HP:0002410)	2.38345154
30	Pancreatic fibrosis (HP:0100732)	2.37040276
31	Genital tract atresia (HP:0001827)	2.33307225
32	Hyperglycinemia (HP:0002154)	2.31930901
33	Pancreatic cysts (HP:0001737)	2.31431956
34	Bile duct proliferation (HP:0001408)	2.29622501
35	Abnormal biliary tract physiology (HP:0012439)	2.29622501
36	Renal cortical cysts (HP:0000803)	2.28417800
37	Retinal dysplasia (HP:0007973)	2.27733674
38	Neoplasm of the oral cavity (HP:0100649)	2.25390630
39	Hypoplastic iliac wings (HP:0002866)	2.19839795
40	Gastrointestinal atresia (HP:0002589)	2.19205401
41	Renal hypoplasia (HP:0000089)	2.14826726
42	Abnormality of the incisor (HP:0000676)	2.14151771
43	Large earlobe (HP:0009748)	2.12833030
44	Bifid tongue (HP:0010297)	2.11617531
45	Abnormality of chromosome stability (HP:0003220)	2.10573554
46	Abnormality of the renal cortex (HP:0011035)	2.08475213
47	Syncope (HP:0001279)	2.02912841
48	Long nose (HP:0003189)	2.01754601
49	Prostate neoplasm (HP:0100787)	2.01493150
50	Medial flaring of the eyebrow (HP:0010747)	2.01314368
51	Gait imbalance (HP:0002141)	2.00442473
52	Congenital primary aphakia (HP:0007707)	1.99253142
53	Duplication of thumb phalanx (HP:0009942)	1.99168824
54	Short phalanx of the thumb (HP:0009660)	1.98834496
55	Aplasia involving bones of the extremities (HP:0009825)	1.98083512
56	Aplasia involving bones of the upper limbs (HP:0009823)	1.98083512
57	Aplasia of the phalanges of the hand (HP:0009802)	1.98083512
58	Cerebellar dysplasia (HP:0007033)	1.97537326
59	Absent speech (HP:0001344)	1.97174712
60	Abnormality of the middle phalanges of the toes (HP:0010183)	1.96767446
61	Abnormality of the renal medulla (HP:0100957)	1.96296551
62	Sudden death (HP:0001699)	1.96168554
63	Esophageal atresia (HP:0002032)	1.96082543
64	Pulmonary artery stenosis (HP:0004415)	1.95978763
65	Tubulointerstitial nephritis (HP:0001970)	1.95055986
66	Widely spaced teeth (HP:0000687)	1.94425890
67	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.94397802
68	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.94164457
69	Abnormality of midbrain morphology (HP:0002418)	1.92362819
70	Molar tooth sign on MRI (HP:0002419)	1.92362819
71	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.90108856
72	Left ventricular hypertrophy (HP:0001712)	1.89981794
73	Progressive macrocephaly (HP:0004481)	1.89726823
74	Abnormality of the parietal bone (HP:0002696)	1.87919525
75	Ectopic kidney (HP:0000086)	1.87514892
76	Meckel diverticulum (HP:0002245)	1.87135157
77	Nephrogenic diabetes insipidus (HP:0009806)	1.85100806
78	Gonadal dysgenesis (HP:0000133)	1.82983878
79	Alacrima (HP:0000522)	1.82694656
80	Male pseudohermaphroditism (HP:0000037)	1.82130928
81	IgG deficiency (HP:0004315)	1.80637612
82	Hypoplastic scapulae (HP:0000882)	1.80375989
83	Aplasia/Hypoplasia of the scapulae (HP:0006713)	1.80375989
84	Stomach cancer (HP:0012126)	1.79366451
85	Acute necrotizing encephalopathy (HP:0006965)	1.78162461
86	Triphalangeal thumb (HP:0001199)	1.76800955
87	Split foot (HP:0001839)	1.76614653
88	IgM deficiency (HP:0002850)	1.74891300
89	Abnormality of the ileum (HP:0001549)	1.74382180
90	Hemivertebrae (HP:0002937)	1.73535846
91	Chronic hepatic failure (HP:0100626)	1.70676346
92	Spastic diplegia (HP:0001264)	1.68865908
93	Anophthalmia (HP:0000528)	1.67326624
94	Nephronophthisis (HP:0000090)	1.65848734
95	Small hand (HP:0200055)	1.65312053
96	Inability to walk (HP:0002540)	1.64896899
97	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.64750890
98	Astigmatism (HP:0000483)	1.63788359
99	Abnormality of the preputium (HP:0100587)	1.62607622
100	Pachygyria (HP:0001302)	1.62498577

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	6.54448108
2	ACVR1B	3.89918325
3	STK16	3.29473526
4	EPHA3	2.83252258
5	FGFR2	2.71718088
6	BMPR1B	2.62843182
7	CASK	2.59015917
8	TNIK	2.46306622
9	PINK1	2.37958679
10	VRK2	2.28043248
11	TLK1	2.20882005
12	CAMKK2	2.05519070
13	MKNK2	1.99227039
14	FRK	1.94001085
15	MARK1	1.82592387
16	ZAK	1.81166051
17	BCKDK	1.76822503
18	TXK	1.68541886
19	ERBB4	1.68399261
20	TGFBR1	1.62834304
21	VRK1	1.59025437
22	EPHB1	1.48737257
23	MST4	1.44265743
24	CSNK1G1	1.40578668
25	CCNB1	1.40452928
26	MYLK	1.32937398
27	GRK1	1.22431679
28	OBSCN	1.21229080
29	MKNK1	1.16844881
30	CSNK1G2	1.16736047
31	CSNK1A1L	1.16595701
32	OXSR1	1.16522357
33	FGFR1	1.16409119
34	CSNK1G3	1.16290738
35	PBK	1.15217012
36	WNK3	1.11280303
37	NME1	1.05758292
38	INSRR	0.98203392
39	GRK7	0.96344420
40	GRK6	0.94116263
41	MAPK13	0.92035955
42	DYRK2	0.89106915
43	CDC7	0.85370061
44	NEK1	0.85350522
45	NUAK1	0.85327565
46	CDK19	0.80418140
47	NEK9	0.77880532
48	MAPKAPK3	0.76786481
49	NLK	0.76251371
50	ROCK1	0.70212880
51	EPHA4	0.68809315
52	EIF2AK2	0.67130689
53	CAMK4	0.66172842
54	MAP3K7	0.65255429
55	PASK	0.65096681
56	ADRBK1	0.64796752
57	TIE1	0.62934607
58	TAOK3	0.62915112
59	PLK2	0.62751586
60	SIK2	0.61626937
61	YES1	0.61151470
62	PDK2	0.59082061
63	EPHB2	0.57380998
64	JAK1	0.56422672
65	PAK3	0.55207894
66	WNK4	0.54116608
67	PLK4	0.53327299
68	CAMK2D	0.50269327
69	PRKCE	0.47061668
70	DAPK3	0.46734943
71	PRKCZ	0.44907915
72	CAMK2A	0.42505999
73	ATR	0.42301972
74	RPS6KB2	0.42287422
75	LMTK2	0.41879007
76	RPS6KA5	0.41722873
77	PRKACB	0.40989685
78	ATM	0.40951364
79	ADRBK2	0.40647589
80	PHKG2	0.40197707
81	PHKG1	0.40197707
82	BUB1	0.39692690
83	MUSK	0.38303795
84	PLK1	0.37083255
85	AURKB	0.35870684
86	SRPK1	0.34088171
87	CSNK1A1	0.33695526
88	MAPKAPK2	0.31864179
89	FGFR3	0.31409722
90	CAMKK1	0.30733709
91	PRKACA	0.30680439
92	PIM1	0.29601887
93	KIT	0.29181205
94	PRKAA1	0.27684292
95	CHEK2	0.27448496
96	EIF2AK3	0.26631769
97	STK39	0.25553569
98	PLK3	0.25403958
99	CAMK1	0.25100510
100	BLK	0.24972872

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.31455956
2	RNA polymerase_Homo sapiens_hsa03020	2.92388797
3	Homologous recombination_Homo sapiens_hsa03440	2.62837439
4	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.49527058
5	Mismatch repair_Homo sapiens_hsa03430	2.39079874
6	Propanoate metabolism_Homo sapiens_hsa00640	2.37487299
7	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.32838327
8	RNA degradation_Homo sapiens_hsa03018	2.18290045
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.09105370
10	Systemic lupus erythematosus_Homo sapiens_hsa05322	2.06506276
11	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.00156097
12	Caffeine metabolism_Homo sapiens_hsa00232	1.99541066
13	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.98781484
14	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.84063550
15	DNA replication_Homo sapiens_hsa03030	1.83897864
16	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.77534441
17	Parkinsons disease_Homo sapiens_hsa05012	1.77330636
18	Alcoholism_Homo sapiens_hsa05034	1.72421958
19	Oxidative phosphorylation_Homo sapiens_hsa00190	1.72089088
20	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.68870112
21	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.65079289
22	Fatty acid elongation_Homo sapiens_hsa00062	1.61899267
23	Steroid biosynthesis_Homo sapiens_hsa00100	1.60665897
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.58918710
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.50223005
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.41791845
27	Non-homologous end-joining_Homo sapiens_hsa03450	1.38192692
28	RNA transport_Homo sapiens_hsa03013	1.36512040
29	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.36196258
30	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.35093662
31	Cardiac muscle contraction_Homo sapiens_hsa04260	1.34671848
32	Huntingtons disease_Homo sapiens_hsa05016	1.34649416
33	Butanoate metabolism_Homo sapiens_hsa00650	1.32550481
34	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.30924826
35	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.30229178
36	Spliceosome_Homo sapiens_hsa03040	1.29663689
37	Purine metabolism_Homo sapiens_hsa00230	1.29507730
38	Pyruvate metabolism_Homo sapiens_hsa00620	1.23611617
39	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.23165595
40	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.18857903
41	Fatty acid metabolism_Homo sapiens_hsa01212	1.18839907
42	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.17917744
43	Nitrogen metabolism_Homo sapiens_hsa00910	1.13349438
44	Base excision repair_Homo sapiens_hsa03410	1.11302677
45	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.10497131
46	Pyrimidine metabolism_Homo sapiens_hsa00240	1.10334773
47	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.07771968
48	Olfactory transduction_Homo sapiens_hsa04740	1.07754618
49	Proteasome_Homo sapiens_hsa03050	1.04187854
50	Nucleotide excision repair_Homo sapiens_hsa03420	1.02477421
51	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.00345922
52	Protein export_Homo sapiens_hsa03060	0.94048320
53	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.93896090
54	Arginine and proline metabolism_Homo sapiens_hsa00330	0.93301539
55	Peroxisome_Homo sapiens_hsa04146	0.92737538
56	Primary immunodeficiency_Homo sapiens_hsa05340	0.91864246
57	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.90677937
58	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.89645742
59	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.89060262
60	Glycerolipid metabolism_Homo sapiens_hsa00561	0.88916970
61	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.88447073
62	Basal transcription factors_Homo sapiens_hsa03022	0.88330231
63	Fatty acid degradation_Homo sapiens_hsa00071	0.84970924
64	Carbon metabolism_Homo sapiens_hsa01200	0.84709391
65	One carbon pool by folate_Homo sapiens_hsa00670	0.84625389
66	Glutathione metabolism_Homo sapiens_hsa00480	0.84048794
67	Alzheimers disease_Homo sapiens_hsa05010	0.82411230
68	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.80610247
69	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.75230844
70	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.75107593
71	Nicotine addiction_Homo sapiens_hsa05033	0.73985156
72	Phototransduction_Homo sapiens_hsa04744	0.67145668
73	Basal cell carcinoma_Homo sapiens_hsa05217	0.66844055
74	Retinol metabolism_Homo sapiens_hsa00830	0.65595649
75	Metabolic pathways_Homo sapiens_hsa01100	0.65115747
76	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.59696435
77	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.56947119
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.55617217
79	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.55293933
80	Circadian rhythm_Homo sapiens_hsa04710	0.53776353
81	Fat digestion and absorption_Homo sapiens_hsa04975	0.51674856
82	Morphine addiction_Homo sapiens_hsa05032	0.50731049
83	Taste transduction_Homo sapiens_hsa04742	0.50427067
84	Chemical carcinogenesis_Homo sapiens_hsa05204	0.42758318
85	Glutamatergic synapse_Homo sapiens_hsa04724	0.42670282
86	Sulfur relay system_Homo sapiens_hsa04122	0.42226967
87	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.41337147
88	mRNA surveillance pathway_Homo sapiens_hsa03015	0.39755298
89	Tyrosine metabolism_Homo sapiens_hsa00350	0.37818848
90	p53 signaling pathway_Homo sapiens_hsa04115	0.36519639
91	Salivary secretion_Homo sapiens_hsa04970	0.36264992
92	Viral carcinogenesis_Homo sapiens_hsa05203	0.36248413
93	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.33503747
94	Ribosome_Homo sapiens_hsa03010	0.33138423
95	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.32631431
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.32355797
97	Phenylalanine metabolism_Homo sapiens_hsa00360	0.31685800
98	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.30682356
99	Lysine degradation_Homo sapiens_hsa00310	0.30419559
100	Ether lipid metabolism_Homo sapiens_hsa00565	0.30220911

BMPR1APS2

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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