ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	desmosome organization (GO:0002934)	5.51414344
2	bundle of His cell to Purkinje myocyte communication (GO:0086069)	5.18475687
3	intestinal epithelial cell development (GO:0060576)	4.17313775
4	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	4.16029051
5	hemidesmosome assembly (GO:0031581)	4.09618343
6	regulation of cardioblast differentiation (GO:0051890)	3.67838290
7	regulation of water loss via skin (GO:0033561)	3.66759246
8	negative regulation of keratinocyte proliferation (GO:0010839)	3.62765822
9	establishment of skin barrier (GO:0061436)	3.44954721
10	nephron tubule formation (GO:0072079)	3.33345281
11	skin morphogenesis (GO:0043589)	3.23764302
12	lung lobe morphogenesis (GO:0060463)	3.19925093
13	multicellular organismal water homeostasis (GO:0050891)	3.12642156
14	regulation of keratinocyte proliferation (GO:0010837)	3.03952522
15	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	3.01591134
16	regulation of transforming growth factor beta2 production (GO:0032909)	2.91443521
17	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.88214416
18	negative regulation of chondrocyte differentiation (GO:0032331)	2.84780710
19	keratinocyte proliferation (GO:0043616)	2.84328764
20	establishment of planar polarity (GO:0001736)	2.83543010
21	establishment of tissue polarity (GO:0007164)	2.83543010
22	chemical homeostasis within a tissue (GO:0048875)	2.74614717
23	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.74156117
24	collagen fibril organization (GO:0030199)	2.73377609
25	basement membrane organization (GO:0071711)	2.70198674
26	lung epithelium development (GO:0060428)	2.67633164
27	water homeostasis (GO:0030104)	2.66390902
28	notochord development (GO:0030903)	2.65510178
29	keratan sulfate catabolic process (GO:0042340)	2.63780156
30	smooth muscle tissue development (GO:0048745)	2.63725847
31	metanephric mesenchyme development (GO:0072075)	2.58740985
32	ventricular cardiac muscle cell action potential (GO:0086005)	2.57421329
33	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.53819241
34	regulation of cardioblast proliferation (GO:0003264)	2.53819241
35	polarized epithelial cell differentiation (GO:0030859)	2.52960665
36	genitalia morphogenesis (GO:0035112)	2.52817123
37	mammary gland development (GO:0030879)	2.49384065
38	artery development (GO:0060840)	2.47634397
39	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.47222732
40	fibroblast migration (GO:0010761)	2.47088161
41	keratinocyte development (GO:0003334)	2.45949979
42	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	2.45082068
43	epithelial cell-cell adhesion (GO:0090136)	2.44746701
44	regulation of protein localization to cell surface (GO:2000008)	2.44431603
45	hippo signaling (GO:0035329)	2.43424114
46	embryonic foregut morphogenesis (GO:0048617)	2.43271246
47	iron ion import (GO:0097286)	2.43237978
48	cell-substrate junction assembly (GO:0007044)	2.43005140
49	negative regulation of complement activation (GO:0045916)	2.42693346
50	dichotomous subdivision of an epithelial terminal unit (GO:0060600)	2.42345390
51	apical protein localization (GO:0045176)	2.42174814
52	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.42027462
53	endocrine hormone secretion (GO:0060986)	2.40467119
54	regulation of establishment of planar polarity (GO:0090175)	2.40224959
55	plasma membrane repair (GO:0001778)	2.39782167
56	embryonic cranial skeleton morphogenesis (GO:0048701)	2.36452885
57	transcytosis (GO:0045056)	2.35895881
58	branching involved in salivary gland morphogenesis (GO:0060445)	2.35339708
59	surfactant homeostasis (GO:0043129)	2.33728282
60	regulation of apoptotic process involved in morphogenesis (GO:1902337)	2.33457303
61	keratinization (GO:0031424)	2.33274784
62	negative regulation of protein activation cascade (GO:2000258)	2.32555942
63	negative regulation of protein localization to cell surface (GO:2000009)	2.31654409
64	non-canonical Wnt signaling pathway (GO:0035567)	2.30401891
65	glomerular epithelial cell development (GO:0072310)	2.30293128
66	gap junction assembly (GO:0016264)	2.29761183
67	pericardium development (GO:0060039)	2.29113307
68	endocardial cushion development (GO:0003197)	2.28154624
69	paraxial mesoderm development (GO:0048339)	2.27143966
70	organ formation (GO:0048645)	2.26495595
71	glomerular basement membrane development (GO:0032836)	2.26494499
72	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.26173149
73	cell communication involved in cardiac conduction (GO:0086065)	2.25332434
74	tight junction assembly (GO:0070830)	2.24511210
75	endothelial cell chemotaxis (GO:0035767)	2.22396224
76	negative regulation of cartilage development (GO:0061037)	2.21624454
77	glomerular visceral epithelial cell development (GO:0072015)	2.21604892
78	carnitine shuttle (GO:0006853)	2.21425835
79	negative regulation of kidney development (GO:0090185)	2.20179940
80	atrioventricular valve morphogenesis (GO:0003181)	2.18519502
81	kidney mesenchyme development (GO:0072074)	2.17137098
82	Leydig cell differentiation (GO:0033327)	2.17116143
83	regulation of cholesterol homeostasis (GO:2000188)	2.16877648
84	lung vasculature development (GO:0060426)	2.16597511
85	regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	2.16407639
86	actin-mediated cell contraction (GO:0070252)	2.16242060
87	positive regulation of glycoprotein biosynthetic process (GO:0010560)	2.15792758
88	cell-cell junction assembly (GO:0007043)	2.15767481
89	skeletal muscle adaptation (GO:0043501)	2.14763837
90	muscle cell migration (GO:0014812)	2.14198359
91	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	2.13993480
92	COPII vesicle coating (GO:0048208)	2.13748621
93	epidermis development (GO:0008544)	2.13714296
94	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	2.13159921
95	carnitine transport (GO:0015879)	2.12435407
96	amino-acid betaine transport (GO:0015838)	2.12435407
97	regulation of transforming growth factor beta1 production (GO:0032908)	2.12414082
98	myotube differentiation (GO:0014902)	2.11371144
99	myoblast fusion (GO:0007520)	2.11331233
100	muscle filament sliding (GO:0030049)	2.11128804

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.95111843
2	TP63_17297297_ChIP-ChIP_HaCaT_Human	3.77966861
3	TRIM28_21343339_ChIP-Seq_HEK293_Human	3.63525116
4	* ZNF217_24962896_ChIP-Seq_MCF-7_Human	3.00145616
5	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.99870256
6	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.89476673
7	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.88154944
8	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.60246150
9	AHR_22903824_ChIP-Seq_MCF-7_Human	2.21599716
10	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.14353629
11	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.97307504
12	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.96526218
13	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.96163886
14	* TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.93438508
15	* CJUN_26792858_Chip-Seq_BT549_Human	1.92127495
16	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.91620487
17	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.90929384
18	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.90289352
19	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.87264519
20	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.81269756
21	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.77097933
22	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.76161383
23	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.75800494
24	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.72531196
25	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.70954892
26	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.70111677
27	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.66100591
28	SOX2_20726797_ChIP-Seq_SW620_Human	1.64721914
29	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.61959202
30	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.61959202
31	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61868551
32	* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.50329668
33	* FOXA2_19822575_ChIP-Seq_HepG2_Human	1.50111964
34	TP53_18474530_ChIP-ChIP_U2OS_Human	1.49035199
35	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.47572338
36	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.46340773
37	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.43258891
38	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.42973452
39	TP53_16413492_ChIP-PET_HCT116_Human	1.40987666
40	TP63_23658742_ChIP-Seq_EP156T_Human	1.39482466
41	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.38846466
42	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.38841223
43	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.38404030
44	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.36707068
45	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.35888906
46	* GATA3_24758297_ChIP-Seq_MCF-7_Human	1.35030031
47	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.34226150
48	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.33944897
49	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.33944897
50	* GATA4_25053715_ChIP-Seq_YYC3_Human	1.32977257
51	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.31794121
52	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.28748267
53	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.27286583
54	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.27286583
55	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.26688479
56	GBX2_23144817_ChIP-Seq_PC3_Human	1.26530168
57	* GATA2_21666600_ChIP-Seq_HMVEC_Human	1.23641261
58	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.22396645
59	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.21508624
60	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.18096268
61	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.17902121
62	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.17562452
63	* GATA6_25053715_ChIP-Seq_YYC3_Human	1.17350838
64	* SMAD4_21799915_ChIP-Seq_A2780_Human	1.16232535
65	CLOCK_20551151_ChIP-Seq_293T_Human	1.16124684
66	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.15509355
67	RXR_22108803_ChIP-Seq_LS180_Human	1.14295198
68	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.13835841
69	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.13536574
70	WT1_25993318_ChIP-Seq_PODOCYTE_Human	1.11065415
71	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.10695235
72	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.10277396
73	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.08583487
74	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.06853756
75	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.05612788
76	CDX2_22108803_ChIP-Seq_LS180_Human	1.02197420
77	AR_21909140_ChIP-Seq_LNCAP_Human	1.01594874
78	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.97117058
79	ISL1_27105846_Chip-Seq_CPCs_Mouse	0.96884515
80	PPARA_22158963_ChIP-Seq_LIVER_Mouse	0.96133475
81	KLF5_25053715_ChIP-Seq_YYC3_Human	0.95702494
82	BRD4_25478319_ChIP-Seq_HGPS_Human	0.94914610
83	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.94833342
84	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	0.94305479
85	* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.93808266
86	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.93368828
87	AR_21572438_ChIP-Seq_LNCaP_Human	0.93334136
88	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.92998145
89	* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.91760661
90	* AR_25329375_ChIP-Seq_VCAP_Human	0.90124017
91	DROSHA_22980978_ChIP-Seq_HELA_Human	0.89832500
92	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.88771438
93	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.87043784
94	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.85529179
95	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.85025171
96	* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.84198891
97	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	0.83274422
98	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.82691436
99	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.82588038
100	TCF4_22108803_ChIP-Seq_LS180_Human	0.82169655

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005275_abnormal_skin_tensile	4.02884755
2	MP0010234_abnormal_vibrissa_follicle	3.76009703
3	MP0009780_abnormal_chondrocyte_physiolo	3.33076076
4	MP0005503_abnormal_tendon_morphology	3.17212399
5	MP0003941_abnormal_skin_development	2.78564396
6	MP0008438_abnormal_cutaneous_collagen	2.74706663
7	MP0010678_abnormal_skin_adnexa	2.74604044
8	MP0004272_abnormal_basement_membrane	2.57882317
9	MP0003950_abnormal_plasma_membrane	2.48131653
10	MP0003283_abnormal_digestive_organ	2.45416099
11	MP0000566_synostosis	2.44543318
12	MP0002796_impaired_skin_barrier	2.31155075
13	MP0000383_abnormal_hair_follicle	2.24599965
14	MP0002108_abnormal_muscle_morphology	2.24052624
15	MP0000579_abnormal_nail_morphology	2.09858711
16	MP0004264_abnormal_extraembryonic_tissu	2.00490784
17	MP0010030_abnormal_orbit_morphology	1.94343283
18	MP0000762_abnormal_tongue_morphology	1.88406452
19	MP0005023_abnormal_wound_healing	1.82696928
20	MP0003566_abnormal_cell_adhesion	1.77459379
21	MP0000751_myopathy	1.76030628
22	MP0000749_muscle_degeneration	1.75204896
23	MP0002060_abnormal_skin_morphology	1.73212143
24	MP0005257_abnormal_intraocular_pressure	1.69460441
25	MP0005670_abnormal_white_adipose	1.68028036
26	MP0003195_calcinosis	1.66601052
27	MP0003705_abnormal_hypodermis_morpholog	1.58020953
28	MP0000537_abnormal_urethra_morphology	1.55330668
29	MP0002896_abnormal_bone_mineralization	1.51644113
30	MP0002282_abnormal_trachea_morphology	1.46530234
31	MP0002876_abnormal_thyroid_physiology	1.46481589
32	MP0002098_abnormal_vibrissa_morphology	1.44967400
33	MP0010368_abnormal_lymphatic_system	1.39981331
34	MP0000003_abnormal_adipose_tissue	1.38276120
35	MP0010352_gastrointestinal_tract_polyps	1.36876532
36	MP0004036_abnormal_muscle_relaxation	1.35861441
37	MP0000467_abnormal_esophagus_morphology	1.27758426
38	MP0004043_abnormal_pH_regulation	1.26631797
39	MP0002168_other_aberrant_phenotype	1.26397251
40	MP0001346_abnormal_lacrimal_gland	1.26326531
41	MP0002254_reproductive_system_inflammat	1.25865355
42	MP0000462_abnormal_digestive_system	1.24878430
43	MP0004145_abnormal_muscle_electrophysio	1.22178838
44	MP0005508_abnormal_skeleton_morphology	1.21961259
45	MP0009250_abnormal_appendicular_skeleto	1.17504890
46	MP0000013_abnormal_adipose_tissue	1.16383285
47	MP0001299_abnormal_eye_distance/	1.14233727
48	MP0004084_abnormal_cardiac_muscle	1.11783622
49	MP0001216_abnormal_epidermal_layer	1.11666148
50	MP0004134_abnormal_chest_morphology	1.09843786
51	MP0005377_hearing/vestibular/ear_phenot	1.09052448
52	MP0003878_abnormal_ear_physiology	1.09052448
53	MP0003453_abnormal_keratinocyte_physiol	1.08222234
54	MP0005248_abnormal_Harderian_gland	1.07885120
55	MP0000377_abnormal_hair_follicle	1.05487161
56	MP0001666_abnormal_nutrient_absorption	1.05393600
57	MP0003045_fibrosis	1.05382961
58	MP0005501_abnormal_skin_physiology	1.03776751
59	MP0002139_abnormal_hepatobiliary_system	1.01518203
60	MP0010771_integument_phenotype	1.00255540
61	MP0000733_abnormal_muscle_development	0.99097738
62	MP0004087_abnormal_muscle_fiber	0.98750350
63	MP0003755_abnormal_palate_morphology	0.98057109
64	MP0000534_abnormal_ureter_morphology	0.96164347
65	MP0000613_abnormal_salivary_gland	0.94587698
66	MP0002269_muscular_atrophy	0.93942417
67	MP0006138_congestive_heart_failure	0.93356826
68	MP0005330_cardiomyopathy	0.92764339
69	MP0003937_abnormal_limbs/digits/tail_de	0.92477141
70	MP0009053_abnormal_anal_canal	0.91870530
71	MP0005375_adipose_tissue_phenotype	0.91559604
72	MP0008875_abnormal_xenobiotic_pharmacok	0.90831156
73	MP0003868_abnormal_feces_composition	0.90294782
74	MP0005620_abnormal_muscle_contractility	0.89646803
75	MP0005369_muscle_phenotype	0.87157848
76	MP0010386_abnormal_urinary_bladder	0.85947245
77	MP0004484_altered_response_of	0.84441486
78	MP0000427_abnormal_hair_cycle	0.83762542
79	MP0000627_abnormal_mammary_gland	0.80192714
80	MP0002233_abnormal_nose_morphology	0.79634407
81	MP0000163_abnormal_cartilage_morphology	0.79030941
82	MP0000747_muscle_weakness	0.77197754
83	MP0001958_emphysema	0.76999513
84	MP0000432_abnormal_head_morphology	0.75833561
85	MP0003879_abnormal_hair_cell	0.74677218
86	MP0001879_abnormal_lymphatic_vessel	0.74347353
87	MP0001756_abnormal_urination	0.74038755
88	MP0002138_abnormal_hepatobiliary_system	0.73863041
89	MP0001849_ear_inflammation	0.73683073
90	MP0001270_distended_abdomen	0.71326630
91	MP0000538_abnormal_urinary_bladder	0.71299246
92	MP0000759_abnormal_skeletal_muscle	0.71102488
93	MP0002972_abnormal_cardiac_muscle	0.70625965
94	MP0001485_abnormal_pinna_reflex	0.68888804
95	MP0000647_abnormal_sebaceous_gland	0.67931021
96	MP0004233_abnormal_muscle_weight	0.67496949
97	MP0003935_abnormal_craniofacial_develop	0.66466321
98	MP0005365_abnormal_bile_salt	0.66460244
99	MP0003252_abnormal_bile_duct	0.66383565
100	MP0005409_darkened_coat_color	0.65735217

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Right ventricular cardiomyopathy (HP:0011663)	5.40598647
2	Hyperkalemia (HP:0002153)	3.45762058
3	Lip pit (HP:0100267)	3.37934607
4	Popliteal pterygium (HP:0009756)	3.09862560
5	Alopecia of scalp (HP:0002293)	3.06770335
6	Hyporeflexia of lower limbs (HP:0002600)	2.87663808
7	Atrophic scars (HP:0001075)	2.87559227
8	Exercise-induced myalgia (HP:0003738)	2.79698639
9	Arterial tortuosity (HP:0005116)	2.77092353
10	Type 1 muscle fiber predominance (HP:0003803)	2.71704286
11	Absent frontal sinuses (HP:0002688)	2.64571731
12	Neonatal short-limb short stature (HP:0008921)	2.63602481
13	Muscle fiber inclusion bodies (HP:0100299)	2.63574343
14	Nemaline bodies (HP:0003798)	2.57962431
15	Hypoplastic ischia (HP:0003175)	2.56485441
16	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.55120878
17	Abnormality of the ischium (HP:0003174)	2.54984001
18	Hyperactive renin-angiotensin system (HP:0000841)	2.54676487
19	Osteolytic defects of the hand bones (HP:0009699)	2.52424705
20	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.52424705
21	Aplasia of the musculature (HP:0100854)	2.50045459
22	Advanced eruption of teeth (HP:0006288)	2.49040563
23	Aortic dissection (HP:0002647)	2.48987943
24	Cervical subluxation (HP:0003308)	2.45025054
25	Vascular tortuosity (HP:0004948)	2.42843205
26	Protrusio acetabuli (HP:0003179)	2.38396150
27	Muscle hypertrophy of the lower extremities (HP:0008968)	2.32043342
28	Calf muscle hypertrophy (HP:0008981)	2.30892490
29	Cardiovascular calcification (HP:0011915)	2.29607911
30	Aortic aneurysm (HP:0004942)	2.28675449
31	Vascular calcification (HP:0004934)	2.28428734
32	Metaphyseal dysplasia (HP:0100255)	2.27378170
33	Hypoplastic labia majora (HP:0000059)	2.26803220
34	Onycholysis (HP:0001806)	2.18189387
35	Abnormality of secondary sexual hair (HP:0009888)	2.17877806
36	Abnormality of the axillary hair (HP:0100134)	2.17877806
37	Aplasia/Hypoplasia of the scapulae (HP:0006713)	2.14940674
38	Hypoplastic scapulae (HP:0000882)	2.14940674
39	Ventricular tachycardia (HP:0004756)	2.14540095
40	Plantar hyperkeratosis (HP:0007556)	2.14427108
41	Pterygium (HP:0001059)	2.13682123
42	Abnormality of the calf musculature (HP:0001430)	2.13020451
43	Abnormality of the nasal septum (HP:0000419)	2.12522240
44	Abnormality of nail color (HP:0100643)	2.12144983
45	Abnormality of the labia majora (HP:0012881)	2.10329339
46	Distal lower limb muscle weakness (HP:0009053)	2.08444438
47	Natal tooth (HP:0000695)	2.07663624
48	Milia (HP:0001056)	2.03097017
49	Exercise-induced muscle cramps (HP:0003710)	2.01360691
50	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.01277550
51	Woolly hair (HP:0002224)	2.00480077
52	Abnormality of molar morphology (HP:0011070)	2.00035897
53	Abnormality of molar (HP:0011077)	2.00035897
54	Abnormality of permanent molar morphology (HP:0011071)	1.98462907
55	Abnormality of the dental root (HP:0006486)	1.98462907
56	Taurodontia (HP:0000679)	1.98462907
57	Mildly elevated creatine phosphokinase (HP:0008180)	1.97113415
58	Flat acetabular roof (HP:0003180)	1.96446431
59	Limited hip movement (HP:0008800)	1.96001891
60	Premature rupture of membranes (HP:0001788)	1.95374888
61	Tibial bowing (HP:0002982)	1.89402732
62	Bronchomalacia (HP:0002780)	1.88850316
63	Fragile skin (HP:0001030)	1.87919387
64	Palmoplantar hyperkeratosis (HP:0000972)	1.87841784
65	Abnormality of the dental pulp (HP:0006479)	1.87341973
66	Abnormality of chloride homeostasis (HP:0011422)	1.86160879
67	Abnormal tarsal ossification (HP:0008369)	1.85151540
68	Bell-shaped thorax (HP:0001591)	1.82562598
69	Abnormality of the frontal sinuses (HP:0002687)	1.81642777
70	Depressed nasal tip (HP:0000437)	1.80538982
71	Ulnar bowing (HP:0003031)	1.78227868
72	Spondylolisthesis (HP:0003302)	1.77105750
73	Follicular hyperkeratosis (HP:0007502)	1.76609775
74	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.75922845
75	Palmar hyperkeratosis (HP:0010765)	1.75801148
76	Hypoplasia of dental enamel (HP:0006297)	1.75592381
77	Microglossia (HP:0000171)	1.75538818
78	Muscle fiber splitting (HP:0003555)	1.75031404
79	Abnormality of the epiphyses of the hand (HP:0005924)	1.73942168
80	Overgrowth (HP:0001548)	1.73365712
81	Intrahepatic cholestasis (HP:0001406)	1.71285298
82	Chronic bronchitis (HP:0004469)	1.70997421
83	Round ear (HP:0100830)	1.70973499
84	Abnormality of potassium homeostasis (HP:0011042)	1.70644347
85	Increased connective tissue (HP:0009025)	1.69385950
86	Wormian bones (HP:0002645)	1.69178162
87	Soft skin (HP:0000977)	1.67829475
88	Absent eyelashes (HP:0000561)	1.67515795
89	Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)	1.66004453
90	Abnormality of the salivary glands (HP:0010286)	1.65971426
91	Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)	1.65214696
92	Abnormal pancreas size (HP:0012094)	1.64832178
93	Hypotrichosis (HP:0001006)	1.63526725
94	Mitral stenosis (HP:0001718)	1.62749045
95	Pili torti (HP:0003777)	1.62647391
96	Coxa vara (HP:0002812)	1.62462488
97	Laryngomalacia (HP:0001601)	1.62152321
98	Abnormality involving the epiphyses of the upper limbs (HP:0003839)	1.61019102
99	Ulnar deviation of the wrist (HP:0003049)	1.59888403
100	Aplasia/Hypoplasia of the vertebrae (HP:0008515)	1.59684926

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA2	4.63647256
2	MST1R	4.00142083
3	MST4	3.04651559
4	LATS1	2.75669389
5	FER	2.71630235
6	STK38L	2.62324554
7	AKT3	2.49580484
8	MET	2.43695958
9	OBSCN	2.41471664
10	LMTK2	2.31713135
11	STK39	2.05693868
12	MAP3K12	1.96504797
13	RIPK1	1.95598915
14	MYLK	1.91730139
15	STK24	1.81639310
16	BRSK2	1.80213088
17	FRK	1.80119889
18	PHKG2	1.63842942
19	PHKG1	1.63842942
20	LATS2	1.59508897
21	TRPM7	1.54712048
22	PTK2	1.51199142
23	EEF2K	1.46837649
24	OXSR1	1.38110735
25	FGFR2	1.35764083
26	ICK	1.30843606
27	DMPK	1.29099189
28	MAPKAPK3	1.28137873
29	MAP3K2	1.27915013
30	CAMK1G	1.26609500
31	PIK3CA	1.26388117
32	MAP3K7	1.25514764
33	SIK1	1.24821675
34	NME1	1.22235486
35	CDK12	1.20326907
36	BCR	1.15597303
37	TTN	1.13615187
38	CAMK1D	1.10386828
39	FGFR4	1.05431454
40	NLK	1.04235622
41	PAK4	1.03824904
42	PRKAA2	1.00212243
43	STK38	0.99188151
44	STK3	0.98202232
45	ROCK1	0.92347283
46	PAK3	0.91530381
47	MAP3K3	0.90045838
48	TNIK	0.90004683
49	PDGFRA	0.89037612
50	FGFR1	0.88066958
51	SGK2	0.83969851
52	TESK1	0.82135057
53	FGFR3	0.81590337
54	MTOR	0.80340269
55	PKN2	0.79937317
56	EPHB2	0.79775400
57	SGK3	0.78599572
58	EIF2AK3	0.71036150
59	MAPK15	0.70903365
60	CASK	0.70141636
61	PRKCE	0.69053328
62	PRKCI	0.67588696
63	DDR2	0.67338428
64	TNK2	0.66348397
65	DAPK2	0.63764974
66	SGK494	0.61432770
67	SGK223	0.61432770
68	MUSK	0.61351163
69	ERBB2	0.58692725
70	MELK	0.58043321
71	PRKG2	0.57509396
72	PRKD2	0.56349911
73	TRIB3	0.55747637
74	CDC42BPA	0.55233986
75	ERBB3	0.54626336
76	PRKAA1	0.54108943
77	PDGFRB	0.52328718
78	MAP2K1	0.51185466
79	MARK2	0.50763723
80	BMPR1B	0.50457210
81	INSRR	0.49440178
82	PIK3CG	0.48232209
83	EPHA4	0.47543032
84	MAPKAPK5	0.47487746
85	NEK9	0.45260195
86	GRK1	0.44784780
87	PRKD3	0.43810951
88	ROCK2	0.42772702
89	WNK1	0.42048622
90	NTRK1	0.39914148
91	SMG1	0.39618532
92	EPHB1	0.38298508
93	MAP3K6	0.37736530
94	GSK3A	0.37490957
95	AKT2	0.36961591
96	MAP3K9	0.36950942
97	PTK6	0.36645439
98	ILK	0.33572682
99	PBK	0.33425363
100	EPHA3	0.32832428

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ECM-receptor interaction_Homo sapiens_hsa04512	2.52063177
2	Circadian rhythm_Homo sapiens_hsa04710	2.50278312
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.35584126
4	Adherens junction_Homo sapiens_hsa04520	2.03405924
5	Histidine metabolism_Homo sapiens_hsa00340	1.99766232
6	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.89819553
7	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.87801208
8	Tight junction_Homo sapiens_hsa04530	1.85470725
9	Phenylalanine metabolism_Homo sapiens_hsa00360	1.74610284
10	Protein digestion and absorption_Homo sapiens_hsa04974	1.71344472
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.67244978
12	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.58712843
13	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.58344376
14	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.58259579
15	Nitrogen metabolism_Homo sapiens_hsa00910	1.55733285
16	Focal adhesion_Homo sapiens_hsa04510	1.54251398
17	Chemical carcinogenesis_Homo sapiens_hsa05204	1.49982864
18	Arginine and proline metabolism_Homo sapiens_hsa00330	1.43077799
19	Caffeine metabolism_Homo sapiens_hsa00232	1.41978355
20	Retinol metabolism_Homo sapiens_hsa00830	1.34798080
21	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.32629811
22	Complement and coagulation cascades_Homo sapiens_hsa04610	1.29171140
23	Fatty acid degradation_Homo sapiens_hsa00071	1.25547070
24	Mineral absorption_Homo sapiens_hsa04978	1.23246761
25	Arginine biosynthesis_Homo sapiens_hsa00220	1.21946268
26	Bile secretion_Homo sapiens_hsa04976	1.21555024
27	Pancreatic secretion_Homo sapiens_hsa04972	1.21510064
28	Propanoate metabolism_Homo sapiens_hsa00640	1.20396463
29	ABC transporters_Homo sapiens_hsa02010	1.19494793
30	Tyrosine metabolism_Homo sapiens_hsa00350	1.18171348
31	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.16598922
32	Proteoglycans in cancer_Homo sapiens_hsa05205	1.15673678
33	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.14866879
34	Glucagon signaling pathway_Homo sapiens_hsa04922	1.14536943
35	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.13756535
36	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.12899102
37	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.12020152
38	Hippo signaling pathway_Homo sapiens_hsa04390	1.08692935
39	Lysine degradation_Homo sapiens_hsa00310	1.08531829
40	Sphingolipid metabolism_Homo sapiens_hsa00600	1.07615147
41	PPAR signaling pathway_Homo sapiens_hsa03320	1.04109446
42	beta-Alanine metabolism_Homo sapiens_hsa00410	1.03507420
43	Thyroid cancer_Homo sapiens_hsa05216	1.02404564
44	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.01219724
45	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.98825150
46	Basal cell carcinoma_Homo sapiens_hsa05217	0.98464296
47	Insulin resistance_Homo sapiens_hsa04931	0.95714189
48	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.95543594
49	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.95069706
50	Salivary secretion_Homo sapiens_hsa04970	0.92182764
51	Amoebiasis_Homo sapiens_hsa05146	0.91458487
52	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.91115750
53	Tryptophan metabolism_Homo sapiens_hsa00380	0.89833325
54	Glutathione metabolism_Homo sapiens_hsa00480	0.85743829
55	Prostate cancer_Homo sapiens_hsa05215	0.84142940
56	Renin secretion_Homo sapiens_hsa04924	0.81692499
57	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.81132477
58	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.78337853
59	AMPK signaling pathway_Homo sapiens_hsa04152	0.77248776
60	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.75405578
61	Linoleic acid metabolism_Homo sapiens_hsa00591	0.75155781
62	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.74896350
63	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.73936120
64	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.72940554
65	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.72277166
66	Insulin signaling pathway_Homo sapiens_hsa04910	0.70870025
67	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.70625005
68	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.70480891
69	Gastric acid secretion_Homo sapiens_hsa04971	0.69969935
70	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.69140647
71	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.66724971
72	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.66300220
73	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.65785087
74	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.65569142
75	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.65524312
76	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.65252229
77	Fat digestion and absorption_Homo sapiens_hsa04975	0.64617994
78	Fatty acid metabolism_Homo sapiens_hsa01212	0.64265882
79	Wnt signaling pathway_Homo sapiens_hsa04310	0.63379778
80	Melanogenesis_Homo sapiens_hsa04916	0.59384157
81	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.58175364
82	Renin-angiotensin system_Homo sapiens_hsa04614	0.58150010
83	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.57360667
84	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.56936155
85	Pyruvate metabolism_Homo sapiens_hsa00620	0.56229477
86	Insulin secretion_Homo sapiens_hsa04911	0.55602321
87	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.55531902
88	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.53012112
89	Small cell lung cancer_Homo sapiens_hsa05222	0.52370125
90	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.52349270
91	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.52231566
92	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.51696772
93	Phototransduction_Homo sapiens_hsa04744	0.51219219
94	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.50640851
95	Axon guidance_Homo sapiens_hsa04360	0.49629120
96	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.49185839
97	Calcium signaling pathway_Homo sapiens_hsa04020	0.47869187
98	Glycerolipid metabolism_Homo sapiens_hsa00561	0.47421657
99	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.47181197
100	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.46468756

KIAA1217

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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