ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitotic metaphase plate congression (GO:0007080)	5.65175327
2	actin-myosin filament sliding (GO:0033275)	4.93141027
3	muscle filament sliding (GO:0030049)	4.93141027
4	microtubule depolymerization (GO:0007019)	4.80700954
5	metaphase plate congression (GO:0051310)	4.79934767
6	CENP-A containing nucleosome assembly (GO:0034080)	4.65244430
7	actin-mediated cell contraction (GO:0070252)	4.38983322
8	chromatin remodeling at centromere (GO:0031055)	4.34252464
9	hyperosmotic salinity response (GO:0042538)	4.30231448
10	protein K6-linked ubiquitination (GO:0085020)	4.23407926
11	regulation of male gonad development (GO:2000018)	4.16896519
12	positive regulation of male gonad development (GO:2000020)	4.02877386
13	regulation of centriole replication (GO:0046599)	3.78452563
14	negative regulation of muscle hypertrophy (GO:0014741)	3.74844504
15	microtubule polymerization or depolymerization (GO:0031109)	3.69790811
16	histone exchange (GO:0043486)	3.65217087
17	protein localization to chromosome, centromeric region (GO:0071459)	3.37250648
18	protein-chromophore linkage (GO:0018298)	3.33403590
19	notochord development (GO:0030903)	3.31058758
20	replication fork processing (GO:0031297)	3.26047755
21	atrial septum morphogenesis (GO:0060413)	3.24034612
22	establishment of chromosome localization (GO:0051303)	3.20647248
23	protein localization to kinetochore (GO:0034501)	3.20366529
24	actin filament-based movement (GO:0030048)	3.19407304
25	tachykinin receptor signaling pathway (GO:0007217)	3.19272219
26	response to gravity (GO:0009629)	3.15819482
27	histone-serine phosphorylation (GO:0035404)	3.13776439
28	kinetochore organization (GO:0051383)	3.10087499
29	regulation of DNA endoreduplication (GO:0032875)	3.05513476
30	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.05288189
31	mitotic chromosome condensation (GO:0007076)	3.04266192
32	regulation of skeletal muscle contraction (GO:0014819)	3.02561553
33	DNA replication-independent nucleosome organization (GO:0034724)	3.00596614
34	DNA replication-independent nucleosome assembly (GO:0006336)	3.00596614
35	establishment of integrated proviral latency (GO:0075713)	2.97948196
36	cullin deneddylation (GO:0010388)	2.91936091
37	anterior/posterior axis specification, embryo (GO:0008595)	2.90790741
38	regulation of phospholipid biosynthetic process (GO:0071071)	2.89455826
39	mitotic sister chromatid segregation (GO:0000070)	2.88394451
40	kinetochore assembly (GO:0051382)	2.87297337
41	negative regulation of vascular permeability (GO:0043116)	2.81502254
42	muscle cell fate commitment (GO:0042693)	2.81381052
43	sequestering of actin monomers (GO:0042989)	2.78635383
44	secondary heart field specification (GO:0003139)	2.77902081
45	heart field specification (GO:0003128)	2.77902081
46	skeletal muscle adaptation (GO:0043501)	2.77007306
47	postsynaptic membrane organization (GO:0001941)	2.76304435
48	protein deneddylation (GO:0000338)	2.75021055
49	protein heterotetramerization (GO:0051290)	2.72319647
50	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.71912931
51	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.70288973
52	bundle of His cell to Purkinje myocyte communication (GO:0086069)	2.68446900
53	DNA double-strand break processing (GO:0000729)	2.68301918
54	hippo signaling (GO:0035329)	2.66943538
55	striated muscle atrophy (GO:0014891)	2.66863659
56	negative regulation of DNA repair (GO:0045738)	2.65995447
57	sister chromatid segregation (GO:0000819)	2.64532071
58	DNA ligation (GO:0006266)	2.62526541
59	positive regulation of heart growth (GO:0060421)	2.61965057
60	peroxisome fission (GO:0016559)	2.60446533
61	chaperone-mediated protein transport (GO:0072321)	2.60372653
62	skeletal muscle tissue regeneration (GO:0043403)	2.58550248
63	protein localization to microtubule (GO:0035372)	2.56157133
64	muscle cell cellular homeostasis (GO:0046716)	2.55982429
65	ventricular cardiac muscle cell development (GO:0055015)	2.55687696
66	replicative senescence (GO:0090399)	2.55223305
67	positive regulation of cardiac muscle cell proliferation (GO:0060045)	2.54938959
68	mesenchymal to epithelial transition (GO:0060231)	2.54806355
69	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.53923487
70	regulation of cardioblast proliferation (GO:0003264)	2.53923487
71	response to muscle activity (GO:0014850)	2.53681933
72	muscle atrophy (GO:0014889)	2.52578680
73	cardiac myofibril assembly (GO:0055003)	2.46847993
74	positive regulation of cardiac muscle tissue growth (GO:0055023)	2.45522847
75	translesion synthesis (GO:0019985)	2.45017417
76	plasma membrane repair (GO:0001778)	2.44780183
77	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.44470154
78	embryonic foregut morphogenesis (GO:0048617)	2.44458812
79	cardiac right ventricle morphogenesis (GO:0003215)	2.43222954
80	DNA unwinding involved in DNA replication (GO:0006268)	2.42830580
81	dorsal/ventral axis specification (GO:0009950)	2.41730442
82	midgut development (GO:0007494)	2.41158070
83	regulation of cell proliferation involved in heart morphogenesis (GO:2000136)	2.40299004
84	protein localization to chromosome (GO:0034502)	2.39597256
85	mitotic recombination (GO:0006312)	2.38669263
86	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.36953419
87	centriole replication (GO:0007099)	2.36084373
88	resolution of meiotic recombination intermediates (GO:0000712)	2.34845155
89	single strand break repair (GO:0000012)	2.33383291
90	response to folic acid (GO:0051593)	2.33026039
91	cell proliferation in forebrain (GO:0021846)	2.31722233
92	otic vesicle formation (GO:0030916)	2.31007384
93	postreplication repair (GO:0006301)	2.29073434
94	NLS-bearing protein import into nucleus (GO:0006607)	2.25449757
95	mitotic G2 DNA damage checkpoint (GO:0007095)	2.25200217
96	ATP-dependent chromatin remodeling (GO:0043044)	2.24403049
97	spindle checkpoint (GO:0031577)	2.24066638
98	regulation of heart morphogenesis (GO:2000826)	2.23623023
99	DNA strand elongation involved in DNA replication (GO:0006271)	2.22818866
100	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.22558832

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E2F7_22180533_ChIP-Seq_HELA_Human	4.74325656
2	SALL1_21062744_ChIP-ChIP_HESCs_Human	4.04278601
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.55566981
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.45086008
5	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.41307268
6	FOXM1_23109430_ChIP-Seq_U2OS_Human	3.32896346
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.81135619
8	AR_21909140_ChIP-Seq_LNCAP_Human	2.53605816
9	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.48101953
10	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.44880115
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.43938595
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.39842264
13	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.33330875
14	VDR_22108803_ChIP-Seq_LS180_Human	2.29678464
15	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.21575617
16	POU5F1_16153702_ChIP-ChIP_HESCs_Human	2.09339065
17	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.08521748
18	FUS_26573619_Chip-Seq_HEK293_Human	2.06929756
19	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.98281049
20	ELK1_19687146_ChIP-ChIP_HELA_Human	1.97090348
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.79119278
22	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.79041478
23	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.78491917
24	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.73047501
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.68234401
26	EWS_26573619_Chip-Seq_HEK293_Human	1.67647155
27	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.62865369
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.57086962
29	P300_19829295_ChIP-Seq_ESCs_Human	1.54184256
30	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.53959035
31	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.49570162
32	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.49392419
33	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.49149749
34	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.46788828
35	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.46525018
36	SOX9_26525672_Chip-Seq_HEART_Mouse	1.46035139
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.44154465
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41874414
39	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.41236389
40	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.39837907
41	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.39809243
42	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.35338553
43	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.32539876
44	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.31938603
45	SMAD4_21799915_ChIP-Seq_A2780_Human	1.28949198
46	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.28134110
47	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.27031029
48	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.26977884
49	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.26600014
50	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.24302323
51	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.23109917
52	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.21764727
53	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.21069858
54	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.19288388
55	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.19163543
56	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.18817707
57	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.17495256
58	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16616114
59	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.16526578
60	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.15424703
61	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.15413308
62	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.15413308
63	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.14365334
64	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.13098588
65	HTT_18923047_ChIP-ChIP_STHdh_Human	1.12320556
66	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.11721369
67	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.09792142
68	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.09005590
69	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07543969
70	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.06883330
71	ISL1_27105846_Chip-Seq_CPCs_Mouse	1.06836949
72	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.06565739
73	RNF2_27304074_Chip-Seq_NSC_Mouse	1.06251005
74	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.04655635
75	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.04049134
76	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.04020230
77	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.03873050
78	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03731873
79	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.03000244
80	TCF4_22108803_ChIP-Seq_LS180_Human	1.01519267
81	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	0.99045048
82	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.98948419
83	TCF4_23295773_ChIP-Seq_U87_Human	0.98762326
84	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.97387023
85	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.97157492
86	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.96525772
87	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.95424088
88	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.94444901
89	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.94382275
90	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.93867085
91	STAT3_23295773_ChIP-Seq_U87_Human	0.92760744
92	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.91617953
93	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.91543274
94	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.91187039
95	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.91050313
96	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.90609215
97	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.89650555
98	CBP_20019798_ChIP-Seq_JUKART_Human	0.89650555
99	P53_22387025_ChIP-Seq_ESCs_Mouse	0.87902012
100	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	0.87451508

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	4.92898040
2	MP0000749_muscle_degeneration	4.13065881
3	MP0000372_irregular_coat_pigmentation	3.58547215
4	MP0006072_abnormal_retinal_apoptosis	3.50852071
5	MP0000569_abnormal_digit_pigmentation	3.30612532
6	MP0003950_abnormal_plasma_membrane	2.54579564
7	MP0005171_absent_coat_pigmentation	2.40297438
8	MP0004145_abnormal_muscle_electrophysio	2.22654150
9	MP0000537_abnormal_urethra_morphology	2.22361717
10	MP0010030_abnormal_orbit_morphology	2.09736151
11	MP0000747_muscle_weakness	1.96109008
12	MP0002736_abnormal_nociception_after	1.92872474
13	MP0000751_myopathy	1.80652599
14	MP0002638_abnormal_pupillary_reflex	1.80214907
15	MP0003693_abnormal_embryo_hatching	1.75039888
16	MP0004957_abnormal_blastocyst_morpholog	1.71584619
17	MP0010094_abnormal_chromosome_stability	1.70796139
18	MP0002269_muscular_atrophy	1.64875057
19	MP0005174_abnormal_tail_pigmentation	1.56521017
20	MP0003077_abnormal_cell_cycle	1.45778495
21	MP0002108_abnormal_muscle_morphology	1.45713104
22	MP0004036_abnormal_muscle_relaxation	1.43418525
23	MP0005187_abnormal_penis_morphology	1.41169261
24	MP0003937_abnormal_limbs/digits/tail_de	1.35672666
25	MP0002089_abnormal_postnatal_growth/wei	1.34991170
26	MP0009384_cardiac_valve_regurgitation	1.34886215
27	MP0004270_analgesia	1.34654322
28	MP0000759_abnormal_skeletal_muscle	1.32314125
29	MP0009250_abnormal_appendicular_skeleto	1.31986007
30	MP0001293_anophthalmia	1.28844633
31	MP0002837_dystrophic_cardiac_calcinosis	1.26090679
32	MP0003111_abnormal_nucleus_morphology	1.24897204
33	MP0002938_white_spotting	1.24700699
34	MP0004087_abnormal_muscle_fiber	1.22350590
35	MP0005620_abnormal_muscle_contractility	1.22169500
36	MP0001346_abnormal_lacrimal_gland	1.14837906
37	MP0003828_pulmonary_edema	1.14790725
38	MP0005253_abnormal_eye_physiology	1.14756518
39	MP0008932_abnormal_embryonic_tissue	1.14089535
40	MP0002697_abnormal_eye_size	1.13148713
41	MP0001968_abnormal_touch/_nociception	1.12643074
42	MP0008058_abnormal_DNA_repair	1.12619797
43	MP0000762_abnormal_tongue_morphology	1.10304041
44	MP0004215_abnormal_myocardial_fiber	1.08180179
45	MP0005248_abnormal_Harderian_gland	1.07450164
46	MP0004142_abnormal_muscle_tone	1.07390445
47	MP0003755_abnormal_palate_morphology	1.06276976
48	MP0008995_early_reproductive_senescence	1.05915900
49	MP0003718_maternal_effect	1.05239395
50	MP0001299_abnormal_eye_distance/	1.02982292
51	MP0000566_synostosis	1.02891668
52	MP0000579_abnormal_nail_morphology	1.02196947
53	MP0002106_abnormal_muscle_physiology	1.01051047
54	MP0003315_abnormal_perineum_morphology	0.99741341
55	MP0003786_premature_aging	0.98633574
56	MP0005369_muscle_phenotype	0.98295773
57	MP0005503_abnormal_tendon_morphology	0.95989620
58	MP0000631_abnormal_neuroendocrine_gland	0.95144929
59	MP0003705_abnormal_hypodermis_morpholog	0.94060040
60	MP0003279_aneurysm	0.93919217
61	MP0002282_abnormal_trachea_morphology	0.93871333
62	MP0000427_abnormal_hair_cycle	0.93510628
63	MP0003122_maternal_imprinting	0.93040171
64	MP0002295_abnormal_pulmonary_circulatio	0.90694627
65	MP0004084_abnormal_cardiac_muscle	0.89624246
66	MP0003942_abnormal_urinary_system	0.87420367
67	MP0002233_abnormal_nose_morphology	0.86463876
68	MP0001286_abnormal_eye_development	0.85821511
69	MP0008438_abnormal_cutaneous_collagen	0.85610660
70	MP0005391_vision/eye_phenotype	0.83465219
71	MP0001485_abnormal_pinna_reflex	0.82434580
72	MP0003935_abnormal_craniofacial_develop	0.80386930
73	MP0003567_abnormal_fetal_cardiomyocyte	0.79373808
74	MP0003936_abnormal_reproductive_system	0.78521411
75	MP0004272_abnormal_basement_membrane	0.78248603
76	MP0009046_muscle_twitch	0.77940274
77	MP0000049_abnormal_middle_ear	0.77193982
78	MP0005423_abnormal_somatic_nervous	0.77009257
79	MP0001661_extended_life_span	0.76546340
80	MP0002653_abnormal_ependyma_morphology	0.75743914
81	MP0008961_abnormal_basal_metabolism	0.74633293
82	MP0000750_abnormal_muscle_regeneration	0.73988227
83	MP0000639_abnormal_adrenal_gland	0.72932091
84	MP0003137_abnormal_impulse_conducting	0.72050190
85	MP0000778_abnormal_nervous_system	0.69719257
86	MP0002095_abnormal_skin_pigmentation	0.69299404
87	MP0003959_abnormal_lean_body	0.69096187
88	MP0002009_preneoplasia	0.69031920
89	MP0002084_abnormal_developmental_patter	0.68774534
90	MP0002896_abnormal_bone_mineralization	0.68296215
91	MP0003806_abnormal_nucleotide_metabolis	0.67416473
92	MP0004134_abnormal_chest_morphology	0.67102851
93	MP0003385_abnormal_body_wall	0.66853929
94	MP0005508_abnormal_skeleton_morphology	0.65321365
95	MP0003878_abnormal_ear_physiology	0.64518664
96	MP0005377_hearing/vestibular/ear_phenot	0.64518664
97	MP0002085_abnormal_embryonic_tissue	0.63917092
98	MP0000733_abnormal_muscle_development	0.63540142
99	MP0003943_abnormal_hepatobiliary_system	0.62107872
100	MP0005275_abnormal_skin_tensile	0.61739541

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Esophageal atresia (HP:0002032)	3.76328156
2	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.56788811
3	Calf muscle hypertrophy (HP:0008981)	3.37720923
4	Colon cancer (HP:0003003)	3.30841759
5	Muscle hypertrophy of the lower extremities (HP:0008968)	3.24137721
6	Abnormal sex determination (HP:0012244)	3.21595325
7	Sex reversal (HP:0012245)	3.21595325
8	Aplasia of the musculature (HP:0100854)	3.15226727
9	Chromsome breakage (HP:0040012)	3.05908526
10	Large earlobe (HP:0009748)	3.04736818
11	Calcaneovalgus deformity (HP:0001848)	3.03232964
12	Weak cry (HP:0001612)	3.01339665
13	Type 2 muscle fiber atrophy (HP:0003554)	2.88463737
14	Nemaline bodies (HP:0003798)	2.87114688
15	Hypoplastic pelvis (HP:0008839)	2.86254683
16	True hermaphroditism (HP:0010459)	2.81597782
17	Delayed CNS myelination (HP:0002188)	2.80629166
18	Abnormality of the parietal bone (HP:0002696)	2.76002633
19	Gastrointestinal atresia (HP:0002589)	2.64572915
20	Absent phalangeal crease (HP:0006109)	2.59598247
21	Distal arthrogryposis (HP:0005684)	2.59139395
22	Deformed tarsal bones (HP:0008119)	2.58231029
23	Dry hair (HP:0011359)	2.57537526
24	Hypoplastic ischia (HP:0003175)	2.56230199
25	Diaphragmatic weakness (HP:0009113)	2.56024376
26	Respiratory difficulties (HP:0002880)	2.52475849
27	Meckel diverticulum (HP:0002245)	2.47099644
28	Hypoplastic heart (HP:0001961)	2.43778212
29	Round ear (HP:0100830)	2.40043817
30	Exercise-induced muscle cramps (HP:0003710)	2.37758031
31	Microvesicular hepatic steatosis (HP:0001414)	2.36555053
32	Abnormality of placental membranes (HP:0011409)	2.35960474
33	Amniotic constriction ring (HP:0009775)	2.35960474
34	Oral leukoplakia (HP:0002745)	2.35447828
35	Muscle fiber atrophy (HP:0100295)	2.34091619
36	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.30212264
37	Ulnar deviation of the wrist (HP:0003049)	2.30195797
38	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.29092491
39	Abnormality of the ileum (HP:0001549)	2.28038445
40	Gonadal dysgenesis (HP:0000133)	2.24634444
41	Abnormality of the calf musculature (HP:0001430)	2.22740305
42	Abnormality of the ischium (HP:0003174)	2.22671556
43	Abnormality of the antihelix (HP:0009738)	2.22310097
44	Muscle fiber inclusion bodies (HP:0100299)	2.17224800
45	Abnormality of the preputium (HP:0100587)	2.15332212
46	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.15181497
47	Abnormal finger flexion creases (HP:0006143)	2.14358313
48	Trismus (HP:0000211)	2.12854779
49	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.12025307
50	Abnormality of the anterior horn cell (HP:0006802)	2.11438895
51	Degeneration of anterior horn cells (HP:0002398)	2.11438895
52	Thyroid-stimulating hormone excess (HP:0002925)	2.08564187
53	Spinal muscular atrophy (HP:0007269)	2.08462011
54	Hypoplastic left heart (HP:0004383)	2.06922687
55	Type 1 muscle fiber predominance (HP:0003803)	1.99847749
56	Abnormal number of erythroid precursors (HP:0012131)	1.96202187
57	Vertebral arch anomaly (HP:0008438)	1.91751518
58	Sudden death (HP:0001699)	1.88887447
59	Cutaneous syndactyly (HP:0012725)	1.88439739
60	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.85139148
61	Palpebral edema (HP:0100540)	1.84559484
62	Type I diabetes mellitus (HP:0100651)	1.83235563
63	Broad metatarsal (HP:0001783)	1.82726751
64	Arthropathy (HP:0003040)	1.81849335
65	Tubulointerstitial nephritis (HP:0001970)	1.81796220
66	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.81601973
67	Abnormal auditory evoked potentials (HP:0006958)	1.80528923
68	Fibular aplasia (HP:0002990)	1.79097797
69	Deep philtrum (HP:0002002)	1.78062736
70	Hypoplastic iliac wings (HP:0002866)	1.77254471
71	Congenital, generalized hypertrichosis (HP:0004540)	1.76718384
72	Cutaneous finger syndactyly (HP:0010554)	1.75019354
73	Abnormality of the neuromuscular junction (HP:0003398)	1.70932679
74	Fatigable weakness (HP:0003473)	1.70932679
75	Abnormality of the labia minora (HP:0012880)	1.70045595
76	Trigonocephaly (HP:0000243)	1.69501887
77	Abnormality of the left ventricular outflow tract (HP:0011103)	1.69262764
78	Subaortic stenosis (HP:0001682)	1.69262764
79	Absent epiphyses (HP:0010577)	1.68304253
80	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.68304253
81	Premature graying of hair (HP:0002216)	1.66594555
82	Supernumerary ribs (HP:0005815)	1.66559377
83	Supernumerary bones of the axial skeleton (HP:0009144)	1.65579097
84	Septo-optic dysplasia (HP:0100842)	1.64605331
85	3-Methylglutaconic aciduria (HP:0003535)	1.63642658
86	Proximal placement of thumb (HP:0009623)	1.63636340
87	Reticulocytopenia (HP:0001896)	1.62880544
88	Abnormality of cells of the erythroid lineage (HP:0012130)	1.62699274
89	Abnormality of chromosome stability (HP:0003220)	1.62216104
90	Abnormality of the 2nd finger (HP:0004100)	1.62033374
91	Abnormality of the vertebral endplates (HP:0005106)	1.61160669
92	Ectopic kidney (HP:0000086)	1.60246047
93	Spinal cord lesions (HP:0100561)	1.56502773
94	Syringomyelia (HP:0003396)	1.56502773
95	Ovarian neoplasm (HP:0100615)	1.56056285
96	Woolly hair (HP:0002224)	1.56042550
97	Microtia (HP:0008551)	1.55021675
98	Abnormality of the carotid arteries (HP:0005344)	1.53339176
99	Abnormal connection of the cardiac segments (HP:0011545)	1.53220378
100	Abnormal ventriculo-arterial connection (HP:0011563)	1.53220378

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ZAK	4.88341305
2	BRSK2	4.29576974
3	VRK2	3.10868835
4	OBSCN	2.92172532
5	TTK	2.89115106
6	MAP3K9	2.74201144
7	AKT3	2.49004857
8	BMPR1B	2.41205609
9	CHEK2	2.33305658
10	PLK3	2.21573324
11	PNCK	2.19897839
12	PLK4	2.07829112
13	WEE1	2.01454153
14	BRSK1	1.90693814
15	NEK1	1.85668715
16	MARK3	1.80789999
17	MAP3K10	1.80534336
18	BUB1	1.80107822
19	MKNK2	1.72014919
20	TSSK6	1.71128845
21	VRK1	1.70166810
22	EPHB2	1.69834462
23	CDK8	1.54826002
24	PLK2	1.51214317
25	MYLK	1.49807691
26	CAMK1G	1.49108109
27	STK16	1.48109480
28	STK39	1.46114806
29	MKNK1	1.36531202
30	OXSR1	1.35694316
31	TNIK	1.32870375
32	NEK2	1.32726315
33	CDC7	1.27211512
34	TGFBR1	1.27017966
35	DDR2	1.25325769
36	PLK1	1.21919914
37	MAP4K2	1.21552985
38	NLK	1.13865782
39	CDK19	1.05381195
40	WNK4	1.04468573
41	CDK9	1.04169037
42	AURKB	1.03345046
43	NEK9	0.99553171
44	CCNB1	0.97963526
45	MST4	0.84626116
46	PHKG1	0.84037136
47	PHKG2	0.84037136
48	PKN1	0.82001408
49	TLK1	0.79773038
50	TIE1	0.78741281
51	EIF2AK3	0.77636664
52	STK4	0.75744530
53	LATS1	0.68697483
54	NTRK2	0.67047222
55	AURKA	0.66570357
56	BRD4	0.65560688
57	MAP3K4	0.64912370
58	TAF1	0.64344793
59	CDK4	0.63047817
60	ERBB3	0.59992848
61	TRPM7	0.59781901
62	MELK	0.58943426
63	PRKD3	0.58804131
64	MUSK	0.58644859
65	STK3	0.57533419
66	FGFR2	0.54507486
67	ATR	0.54367808
68	MAPKAPK5	0.54255977
69	PAK4	0.53381648
70	CAMK1D	0.51260631
71	EEF2K	0.50505555
72	ATM	0.48408308
73	SRPK1	0.48062531
74	CASK	0.47377577
75	UHMK1	0.47051098
76	PBK	0.45834437
77	MAPK7	0.45605743
78	FGFR1	0.43971613
79	PKN2	0.43387381
80	EIF2AK2	0.43026598
81	PRKCE	0.42881225
82	FER	0.42310339
83	NUAK1	0.41579147
84	CAMK1	0.41481906
85	CSNK1G1	0.41313010
86	NME1	0.40532230
87	MARK1	0.40028272
88	CDK6	0.36174136
89	PASK	0.35716097
90	TRIM28	0.35548057
91	CHEK1	0.35272409
92	MAPK13	0.35044782
93	CDK7	0.34550871
94	ERBB2	0.34317626
95	CSNK1A1L	0.34097310
96	CDK1	0.33775808
97	AKT2	0.33166058
98	ABL2	0.31740998
99	MOS	0.30027266
100	ERBB4	0.29776203

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	DNA replication_Homo sapiens_hsa03030	2.87160672
2	Mismatch repair_Homo sapiens_hsa03430	2.50119572
3	Fanconi anemia pathway_Homo sapiens_hsa03460	2.35615234
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.35544092
5	Protein export_Homo sapiens_hsa03060	2.32364753
6	Homologous recombination_Homo sapiens_hsa03440	2.26243389
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.21417814
8	Ribosome_Homo sapiens_hsa03010	2.18766347
9	Glutathione metabolism_Homo sapiens_hsa00480	2.12546458
10	Nucleotide excision repair_Homo sapiens_hsa03420	2.09897571
11	Cell cycle_Homo sapiens_hsa04110	2.04143277
12	Spliceosome_Homo sapiens_hsa03040	1.96576511
13	Proteasome_Homo sapiens_hsa03050	1.96464943
14	Parkinsons disease_Homo sapiens_hsa05012	1.93341948
15	Tight junction_Homo sapiens_hsa04530	1.93221313
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.79468259
17	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.78658685
18	Oocyte meiosis_Homo sapiens_hsa04114	1.71076762
19	Basal cell carcinoma_Homo sapiens_hsa05217	1.69911566
20	Propanoate metabolism_Homo sapiens_hsa00640	1.64847501
21	Adherens junction_Homo sapiens_hsa04520	1.60511533
22	RNA degradation_Homo sapiens_hsa03018	1.58785725
23	Folate biosynthesis_Homo sapiens_hsa00790	1.58455552
24	RNA transport_Homo sapiens_hsa03013	1.56270411
25	One carbon pool by folate_Homo sapiens_hsa00670	1.54005003
26	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.53820284
27	Alzheimers disease_Homo sapiens_hsa05010	1.53074109
28	Huntingtons disease_Homo sapiens_hsa05016	1.52707669
29	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.45996939
30	Basal transcription factors_Homo sapiens_hsa03022	1.45484859
31	Hippo signaling pathway_Homo sapiens_hsa04390	1.44235296
32	Base excision repair_Homo sapiens_hsa03410	1.40730921
33	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.39672011
34	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.39627334
35	Non-homologous end-joining_Homo sapiens_hsa03450	1.26697546
36	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.25040750
37	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.21140251
38	Fatty acid elongation_Homo sapiens_hsa00062	1.20703712
39	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.18893461
40	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.17376377
41	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.15446081
42	Gap junction_Homo sapiens_hsa04540	1.12200819
43	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.09724970
44	Pyruvate metabolism_Homo sapiens_hsa00620	1.06654085
45	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.06278126
46	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.06116630
47	Circadian rhythm_Homo sapiens_hsa04710	1.05655647
48	Wnt signaling pathway_Homo sapiens_hsa04310	1.02683940
49	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.01426316
50	mRNA surveillance pathway_Homo sapiens_hsa03015	0.97461703
51	RNA polymerase_Homo sapiens_hsa03020	0.96517892
52	ECM-receptor interaction_Homo sapiens_hsa04512	0.93828747
53	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.92210509
54	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.91198772
55	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.90506677
56	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.87000574
57	Purine metabolism_Homo sapiens_hsa00230	0.86596599
58	Selenocompound metabolism_Homo sapiens_hsa00450	0.82705012
59	Nitrogen metabolism_Homo sapiens_hsa00910	0.79197423
60	Alcoholism_Homo sapiens_hsa05034	0.77903796
61	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.77355151
62	Carbon metabolism_Homo sapiens_hsa01200	0.76569449
63	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.75570802
64	Pyrimidine metabolism_Homo sapiens_hsa00240	0.72700430
65	Calcium signaling pathway_Homo sapiens_hsa04020	0.71577226
66	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.69377471
67	Butanoate metabolism_Homo sapiens_hsa00650	0.69083045
68	Melanogenesis_Homo sapiens_hsa04916	0.68788803
69	p53 signaling pathway_Homo sapiens_hsa04115	0.68088268
70	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.67933564
71	Lysine degradation_Homo sapiens_hsa00310	0.62713891
72	MicroRNAs in cancer_Homo sapiens_hsa05206	0.59175753
73	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.56815303
74	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.52275212
75	Peroxisome_Homo sapiens_hsa04146	0.52025360
76	Galactose metabolism_Homo sapiens_hsa00052	0.50630911
77	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.50377647
78	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.50376050
79	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.49718038
80	Gastric acid secretion_Homo sapiens_hsa04971	0.48988898
81	Protein digestion and absorption_Homo sapiens_hsa04974	0.48886243
82	Insulin secretion_Homo sapiens_hsa04911	0.46988366
83	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.45720322
84	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.44924163
85	Morphine addiction_Homo sapiens_hsa05032	0.43404556
86	Arginine and proline metabolism_Homo sapiens_hsa00330	0.42133520
87	Notch signaling pathway_Homo sapiens_hsa04330	0.41823076
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.41628251
89	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.40792868
90	GABAergic synapse_Homo sapiens_hsa04727	0.40753408
91	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.40681897
92	Metabolic pathways_Homo sapiens_hsa01100	0.40435488
93	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.38722955
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.38446293
95	Vibrio cholerae infection_Homo sapiens_hsa05110	0.38066628
96	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.34972167
97	Circadian entrainment_Homo sapiens_hsa04713	0.33378811
98	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.32609904
99	Renin secretion_Homo sapiens_hsa04924	0.29917790
100	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.29796643

BMPR1APS1

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

Tissue Expression Export image »

Cell Line Expression Export image »