ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	intermediate filament cytoskeleton organization (GO:0045104)	9.63430515
2	intermediate filament-based process (GO:0045103)	9.39948565
3	keratinization (GO:0031424)	8.90152795
4	desmosome organization (GO:0002934)	6.33685838
5	molting cycle process (GO:0022404)	6.23812383
6	hair cycle process (GO:0022405)	6.23812383
7	epidermis development (GO:0008544)	6.20533095
8	peptide cross-linking (GO:0018149)	6.20215954
9	establishment of skin barrier (GO:0061436)	5.51840625
10	linoleic acid metabolic process (GO:0043651)	5.41194370
11	long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)	5.24555725
12	long-chain fatty-acyl-CoA metabolic process (GO:0035336)	4.90132955
13	regulation of water loss via skin (GO:0033561)	4.87165908
14	very long-chain fatty acid metabolic process (GO:0000038)	4.73081850
15	fatty-acyl-CoA biosynthetic process (GO:0046949)	4.65198093
16	keratinocyte differentiation (GO:0030216)	4.23586283
17	adhesion of symbiont to host cell (GO:0044650)	4.07957524
18	virion attachment to host cell (GO:0019062)	4.07957524
19	retinol metabolic process (GO:0042572)	4.00287705
20	molting cycle (GO:0042303)	36.8491484
21	hair cycle (GO:0042633)	36.8491484
22	skin morphogenesis (GO:0043589)	3.94539445
23	hemidesmosome assembly (GO:0031581)	3.89130274
24	fatty-acyl-CoA metabolic process (GO:0035337)	3.79379638
25	thioester biosynthetic process (GO:0035384)	3.77568244
26	acyl-CoA biosynthetic process (GO:0071616)	3.77568244
27	keratinocyte proliferation (GO:0043616)	3.54067146
28	adhesion of symbiont to host (GO:0044406)	3.52157586
29	epidermal cell differentiation (GO:0009913)	3.49486761
30	alpha-linolenic acid metabolic process (GO:0036109)	3.28305104
31	multicellular organismal water homeostasis (GO:0050891)	3.24678278
32	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.19609539
33	epithelium development (GO:0060429)	3.02308172
34	long-chain fatty acid biosynthetic process (GO:0042759)	2.92054493
35	positive regulation of keratinocyte differentiation (GO:0045618)	2.90060226
36	primary alcohol metabolic process (GO:0034308)	2.89136548
37	positive regulation of chemokine secretion (GO:0090197)	2.78276243
38	triglyceride biosynthetic process (GO:0019432)	2.72301957
39	defense response to fungus (GO:0050832)	2.71707976
40	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.67992006
41	regulation of sequestering of triglyceride (GO:0010889)	2.64625737
42	water homeostasis (GO:0030104)	2.63078025
43	neutral lipid biosynthetic process (GO:0046460)	2.56579192
44	acylglycerol biosynthetic process (GO:0046463)	2.56579192
45	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.53589478
46	disruption of cells of other organism (GO:0044364)	2.50296127
47	killing of cells of other organism (GO:0031640)	2.50296127
48	regulation of chemokine secretion (GO:0090196)	2.49503385
49	hair follicle development (GO:0001942)	2.42823651
50	regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)	2.39090032
51	negative regulation of keratinocyte proliferation (GO:0010839)	2.37243794
52	positive regulation of epidermal cell differentiation (GO:0045606)	2.26880537
53	lipoxygenase pathway (GO:0019372)	2.24722563
54	thioester metabolic process (GO:0035383)	2.21055842
55	acyl-CoA metabolic process (GO:0006637)	2.21055842
56	positive regulation of epidermis development (GO:0045684)	2.17208388
57	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	2.15400173
58	primary alcohol catabolic process (GO:0034310)	2.12845296
59	aging (GO:0007568)	2.08595641
60	carnitine metabolic process (GO:0009437)	2.05494664
61	unsaturated fatty acid biosynthetic process (GO:0006636)	2.03955612
62	negative regulation of establishment of protein localization to plasma membrane (GO:0090005)	2.01577433
63	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	2.00014042
64	intermediate filament organization (GO:0045109)	15.5199052
65	hair follicle morphogenesis (GO:0031069)	11.1792756
66	fatty acid elongation (GO:0030497)	10.0580297
67	regulation of keratinocyte differentiation (GO:0045616)	1.93624157
68	response to phenylpropanoid (GO:0080184)	1.91395580
69	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	1.90739854
70	regulation of defense response to virus by host (GO:0050691)	1.90313781
71	gap junction assembly (GO:0016264)	1.88477827
72	one-carbon compound transport (GO:0019755)	1.84825234
73	fatty acid biosynthetic process (GO:0006633)	1.82661044
74	epithelial cell-cell adhesion (GO:0090136)	1.79352910
75	phosphatidylcholine acyl-chain remodeling (GO:0036151)	1.78777773
76	negative regulation of protein localization to plasma membrane (GO:1903077)	1.76663318
77	negative regulation of fatty acid transport (GO:2000192)	1.76254872
78	cell-substrate junction assembly (GO:0007044)	1.76150864
79	ectoderm development (GO:0007398)	1.75885398
80	phosphatidylserine metabolic process (GO:0006658)	1.74037338
81	negative regulation of execution phase of apoptosis (GO:1900118)	1.73906347
82	response to fungus (GO:0009620)	1.73310214
83	regulation of phospholipase A2 activity (GO:0032429)	1.72304534
84	skin development (GO:0043588)	1.68649694
85	planar cell polarity pathway involved in neural tube closure (GO:0090179)	1.61968790
86	phosphatidic acid biosynthetic process (GO:0006654)	1.61075366
87	phosphatidic acid metabolic process (GO:0046473)	1.61075366
88	regulation of glucocorticoid metabolic process (GO:0031943)	1.60963211
89	ethanol metabolic process (GO:0006067)	1.60438819
90	chondrocyte proliferation (GO:0035988)	1.59329747
91	epithelial cell differentiation involved in prostate gland development (GO:0060742)	1.55227087
92	positive regulation of hair follicle development (GO:0051798)	1.54708855
93	positive regulation of hair cycle (GO:0042635)	1.54708855
94	establishment of tissue polarity (GO:0007164)	1.54649377
95	establishment of planar polarity (GO:0001736)	1.54649377
96	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	1.52196043
97	extracellular matrix assembly (GO:0085029)	1.50134090
98	cellular response to vitamin (GO:0071295)	1.49146984
99	regulation of epidermal cell differentiation (GO:0045604)	1.48651086
100	sphingoid metabolic process (GO:0046519)	1.48266918

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	8.21892760
2	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	5.50546951
3	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	4.93907193
4	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	3.34956541
5	P63_26484246_Chip-Seq_KERATINOCYTES_Human	2.89372386
6	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.70348762
7	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	14.0990049
8	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.92319921
9	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.91465019
10	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	1.86437695
11	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.79990626
12	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.58320677
13	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.58320677
14	ERG_20517297_ChIP-Seq_VCAP_Human	1.55469962
15	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.49020983
16	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.40474673
17	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.37919632
18	TP63_23658742_ChIP-Seq_EP156T_Human	1.36685395
19	TP63_22573176_ChIP-Seq_HFKS_Human	1.34696139
20	LXR_22292898_ChIP-Seq_THP-1_Human	1.28386150
21	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.24955230
22	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.24624133
23	* CTCF_20526341_ChIP-Seq_ESCs_Human	1.22765119
24	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.20368014
25	CSB_26484114_Chip-Seq_FIBROBLAST_Human	1.19293353
26	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.18652060
27	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.17265092
28	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.15757039
29	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.13460424
30	TAF2_19829295_ChIP-Seq_ESCs_Human	1.12661690
31	E2F1_20622854_ChIP-Seq_HELA_Human	1.12610953
32	BCOR_27268052_Chip-Seq_Bcells_Human	1.11082382
33	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.10635566
34	TP53_18474530_ChIP-ChIP_U2OS_Human	1.09143241
35	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.08516274
36	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.05482117
37	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.04514626
38	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.03457938
39	CTCF_27219007_Chip-Seq_Bcells_Human	1.03161978
40	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.02810648
41	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.00027677
42	RXR_22108803_ChIP-Seq_LS180_Human	0.98764656
43	BCL6_27268052_Chip-Seq_Bcells_Human	0.98364583
44	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.94526282
45	RACK7_27058665_Chip-Seq_MCF-7_Human	0.94057698
46	P68_20966046_ChIP-Seq_HELA_Human	0.91676388
47	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.90221290
48	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.89946609
49	TP53_16413492_ChIP-PET_HCT116_Human	0.89769465
50	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.88955455
51	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.87631861
52	MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse	0.84815058
53	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.84685674
54	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.83768203
55	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.83571507
56	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.83361051
57	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.83094081
58	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.82597838
59	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.82259174
60	TBX20_22328084_ChIP-Seq_HEART_Mouse	0.81102250
61	TBX20_22080862_ChIP-Seq_HEART_Mouse	0.81102250
62	GATA4_25053715_ChIP-Seq_YYC3_Human	0.80947296
63	RING1B_27294783_Chip-Seq_ESCs_Mouse	0.80734303
64	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.78886606
65	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.78441358
66	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.78441358
67	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.77523680
68	AHR_22903824_ChIP-Seq_MCF-7_Human	0.76820553
69	CLOCK_20551151_ChIP-Seq_293T_Human	0.76375515
70	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	0.75812744
71	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.75477846
72	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.75132014
73	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.74719198
74	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.74719198
75	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.72419850
76	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.71841276
77	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.71797086
78	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.71391537
79	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.71341938
80	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.71168017
81	ELF1_20517297_ChIP-Seq_JURKAT_Human	0.69625783
82	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.68674602
83	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.68402592
84	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.68402592
85	EGR1_19032775_ChIP-ChIP_M12_Human	0.68060938
86	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.68028882
87	PHF8_20622854_ChIP-Seq_HELA_Human	0.67985555
88	SMC3_22415368_ChIP-Seq_MEFs_Mouse	0.67727415
89	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.66304286
90	KLF5_25053715_ChIP-Seq_YYC3_Human	0.65867695
91	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.65440228
92	KAP1_27257070_Chip-Seq_ESCs_Mouse	0.64605835
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.63988531
94	SMC1_22415368_ChIP-Seq_MEFs_Mouse	0.63866195
95	BRD4_25478319_ChIP-Seq_HGPS_Human	0.63832156
96	SOX2_20726797_ChIP-Seq_SW620_Human	0.62911032
97	SMC4_20622854_ChIP-Seq_HELA_Human	0.62561241
98	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.62515384
99	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.61527317
100	P53_21459846_ChIP-Seq_SAOS-2_Human	0.61125741

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000647_abnormal_sebaceous_gland	8.14907201
2	MP0002098_abnormal_vibrissa_morphology	6.94457839
3	MP0005275_abnormal_skin_tensile	6.74259195
4	MP0000579_abnormal_nail_morphology	5.80265214
5	MP0002796_impaired_skin_barrier	5.33552695
6	MP0004381_abnormal_hair_follicle	4.71295099
7	MP0000377_abnormal_hair_follicle	4.08913703
8	MP0010234_abnormal_vibrissa_follicle	3.51990685
9	MP0009379_abnormal_foot_pigmentation	3.32350438
10	MP0005501_abnormal_skin_physiology	3.03049431
11	MP0003705_abnormal_hypodermis_morpholog	2.97510689
12	MP0000383_abnormal_hair_follicle	2.90595446
13	MP0010678_abnormal_skin_adnexa	2.77152344
14	MP0001243_abnormal_dermal_layer	2.46074245
15	MP0002060_abnormal_skin_morphology	2.43240147
16	MP0003453_abnormal_keratinocyte_physiol	2.40943710
17	MP0004947_skin_inflammation	2.38010706
18	MP0000367_abnormal_coat/_hair	2.26909383
19	MP0005075_abnormal_melanosome_morpholog	2.24815004
20	MP0001216_abnormal_epidermal_layer	2.22550872
21	MP0000427_abnormal_hair_cycle	2.14764425
22	MP0003878_abnormal_ear_physiology	2.11277178
23	MP0005377_hearing/vestibular/ear_phenot	2.11277178
24	MP0010771_integument_phenotype	2.05411559
25	MP0008438_abnormal_cutaneous_collagen	1.81429813
26	MP0005409_darkened_coat_color	1.76152118
27	MP0004885_abnormal_endolymph	1.74041164
28	MP0002095_abnormal_skin_pigmentation	1.65156794
29	MP0001661_extended_life_span	1.52091011
30	MP0003300_gastrointestinal_ulcer	1.46175386
31	MP0009931_abnormal_skin_appearance	1.43953033
32	MP0003011_delayed_dark_adaptation	1.34360914
33	MP0000467_abnormal_esophagus_morphology	1.24548785
34	MP0001958_emphysema	1.21852592
35	MP0003941_abnormal_skin_development	1.13427287
36	MP0005503_abnormal_tendon_morphology	1.12712546
37	MP0001191_abnormal_skin_condition	1.06488492
38	MP0009384_cardiac_valve_regurgitation	0.97815316
39	MP0003566_abnormal_cell_adhesion	0.96824688
40	MP0003279_aneurysm	0.93288464
41	MP0001188_hyperpigmentation	0.92914032
42	MP0000762_abnormal_tongue_morphology	0.86361260
43	MP0010030_abnormal_orbit_morphology	0.86146809
44	MP0004858_abnormal_nervous_system	0.83129895
45	MP0005647_abnormal_sex_gland	0.82681371
46	MP0002282_abnormal_trachea_morphology	0.77448357
47	MP0000566_synostosis	0.77326565
48	MP0006035_abnormal_mitochondrial_morpho	0.75225283
49	MP0000015_abnormal_ear_pigmentation	0.70363919
50	MP0002970_abnormal_white_adipose	0.65703398
51	MP0005174_abnormal_tail_pigmentation	0.65045446
52	MP0004272_abnormal_basement_membrane	0.50160422
53	MP0005023_abnormal_wound_healing	0.48119700
54	MP0010368_abnormal_lymphatic_system	0.47986419
55	MP0001784_abnormal_fluid_regulation	0.45355935
56	MP0005257_abnormal_intraocular_pressure	0.40038603
57	MP0005508_abnormal_skeleton_morphology	0.39809335
58	MP0009780_abnormal_chondrocyte_physiolo	0.39016310
59	MP0001542_abnormal_bone_strength	0.38840350
60	MP0001851_eye_inflammation	0.37259035
61	MP0009053_abnormal_anal_canal	0.36526254
62	MP0003191_abnormal_cellular_cholesterol	0.35909839
63	MP0001485_abnormal_pinna_reflex	0.33494141
64	MP0005623_abnormal_meninges_morphology	0.31291943
65	MP0001340_abnormal_eyelid_morphology	0.23592688
66	MP0001849_ear_inflammation	0.22816412
67	MP0000751_myopathy	0.21583283
68	MP0002163_abnormal_gland_morphology	0.21169308
69	MP0003950_abnormal_plasma_membrane	0.21152455
70	MP0000462_abnormal_digestive_system	0.19160596
71	MP0004782_abnormal_surfactant_physiolog	0.19133937
72	MP0006054_spinal_hemorrhage	0.18814164
73	MP0002249_abnormal_larynx_morphology	0.18756903
74	MP0000767_abnormal_smooth_muscle	0.17930971
75	MP0003763_abnormal_thymus_physiology	0.17872155
76	MP0002896_abnormal_bone_mineralization	0.17792226
77	MP0000627_abnormal_mammary_gland	0.17721518
78	MP0010386_abnormal_urinary_bladder	0.17619277
79	MP0003755_abnormal_palate_morphology	0.17564150
80	MP0003448_altered_tumor_morphology	0.16691137
81	MP0002295_abnormal_pulmonary_circulatio	0.16566057
82	MP0002108_abnormal_muscle_morphology	0.16462776
83	MP0002177_abnormal_outer_ear	0.14891341
84	MP0005452_abnormal_adipose_tissue	0.14884469
85	MP0004264_abnormal_extraembryonic_tissu	0.14234288
86	MP0002877_abnormal_melanocyte_morpholog	0.14124714
87	MP0003091_abnormal_cell_migration	0.14077354
88	MP0010352_gastrointestinal_tract_polyps	0.13984246
89	MP0005535_abnormal_body_temperature	0.13678009
90	MP0002111_abnormal_tail_morphology	0.13249591
91	MP0002133_abnormal_respiratory_system	0.13002668
92	MP0005388_respiratory_system_phenotype	0.13002668
93	MP0009250_abnormal_appendicular_skeleto	0.11619452
94	MP0000428_abnormal_craniofacial_morphol	0.10342728
95	MP0001881_abnormal_mammary_gland	0.10254519
96	MP0005390_skeleton_phenotype	0.09764723
97	MP0000358_abnormal_cell_content/	0.09060667
98	MP0004185_abnormal_adipocyte_glucose	0.08755693
99	MP0001299_abnormal_eye_distance/	0.08251444
100	MP0001177_atelectasis	0.08169907

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypotrichosis (HP:0001006)	9.20476654
2	Abnormal hair laboratory examination (HP:0003328)	9.11017116
3	Absent eyelashes (HP:0000561)	7.06890084
4	Dry hair (HP:0011359)	6.14088674
5	Absent eyebrow (HP:0002223)	6.12859375
6	Abnormality of nail color (HP:0100643)	5.59752183
7	Follicular hyperkeratosis (HP:0007502)	5.46643497
8	Absent hair (HP:0002298)	5.18405468
9	Increased IgE level (HP:0003212)	5.14952201
10	Nail dystrophy (HP:0008404)	5.07879249
11	Fine hair (HP:0002213)	4.78954682
12	Palmoplantar hyperkeratosis (HP:0000972)	4.65257129
13	Palmar hyperkeratosis (HP:0010765)	4.41026272
14	Erythema (HP:0010783)	4.06590171
15	Alopecia of scalp (HP:0002293)	3.76917745
16	Thick nail (HP:0001805)	3.69970281
17	Plantar hyperkeratosis (HP:0007556)	3.69487924
18	Abnormality of the axillary hair (HP:0100134)	3.61367785
19	Abnormality of secondary sexual hair (HP:0009888)	3.61367785
20	Erythroderma (HP:0001019)	3.49964541
21	Abnormality of the pupil (HP:0000615)	3.48007215
22	Sparse eyelashes (HP:0000653)	3.38039309
23	Congenital ichthyosiform erythroderma (HP:0007431)	3.31666966
24	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.22027502
25	Congenital, generalized hypertrichosis (HP:0004540)	2.98254094
26	Fragile nails (HP:0001808)	2.42054168
27	Corneal erosion (HP:0200020)	2.29032180
28	Conjunctival hamartoma (HP:0100780)	2.06321581
29	Coarse hair (HP:0002208)	2.03105787
30	Pili torti (HP:0003777)	14.2631068
31	Onycholysis (HP:0001806)	12.1170425
32	Woolly hair (HP:0002224)	10.8839091
33	Brittle hair (HP:0002299)	10.2755284
34	Slow-growing hair (HP:0002217)	10.1571445
35	Abnormality of hair growth rate (HP:0011363)	10.1571445
36	Parakeratosis (HP:0001036)	1.99871986
37	Ridged nail (HP:0001807)	1.97854799
38	Abnormal blistering of the skin (HP:0008066)	1.97242830
39	Palmoplantar keratoderma (HP:0000982)	1.95283633
40	Oral leukoplakia (HP:0002745)	1.92251091
41	Right ventricular cardiomyopathy (HP:0011663)	1.85737299
42	Premature rupture of membranes (HP:0001788)	1.83315853
43	Hypohidrosis (HP:0000966)	1.80403196
44	Milia (HP:0001056)	1.80345617
45	Protrusio acetabuli (HP:0003179)	1.72446039
46	Blepharitis (HP:0000498)	1.64150993
47	Neonatal short-limb short stature (HP:0008921)	1.52385932
48	Abnormality of the neuromuscular junction (HP:0003398)	1.51505864
49	Fatigable weakness (HP:0003473)	1.51505864
50	Pruritus (HP:0000989)	1.43695116
51	Hypergammaglobulinemia (HP:0010702)	1.38804825
52	Sparse scalp hair (HP:0002209)	1.38088905
53	Natal tooth (HP:0000695)	1.37358895
54	Acanthosis nigricans (HP:0000956)	1.36163064
55	Craniofacial hyperostosis (HP:0004493)	1.35285265
56	Hamartoma of the eye (HP:0010568)	1.29167193
57	Abnormality of molar morphology (HP:0011070)	1.26570890
58	Abnormality of molar (HP:0011077)	1.26570890
59	Urticaria (HP:0001025)	1.25810692
60	Advanced eruption of teeth (HP:0006288)	1.25698955
61	Multifactorial inheritance (HP:0001426)	1.20453837
62	Furrowed tongue (HP:0000221)	1.17442894
63	Abnormality of permanent molar morphology (HP:0011071)	1.16816171
64	Abnormality of the dental root (HP:0006486)	1.16816171
65	Taurodontia (HP:0000679)	1.16816171
66	Bladder diverticulum (HP:0000015)	1.15181563
67	Recurrent corneal erosions (HP:0000495)	1.12269529
68	Aplasia of the phalanges of the hand (HP:0009802)	1.08288304
69	Aplasia involving bones of the extremities (HP:0009825)	1.08288304
70	Aplasia involving bones of the upper limbs (HP:0009823)	1.08288304
71	Aortic aneurysm (HP:0004942)	1.04600057
72	Cranial hyperostosis (HP:0004437)	1.02293376
73	Abnormality of the dental pulp (HP:0006479)	1.00983368
74	Ankle contracture (HP:0006466)	1.00696558
75	Aortic dissection (HP:0002647)	0.99786279
76	Hypoplastic toenails (HP:0001800)	0.99038545
77	Genu recurvatum (HP:0002816)	0.98233832
78	Laryngomalacia (HP:0001601)	0.97120830
79	Broad metatarsal (HP:0001783)	0.96570538
80	Coronal craniosynostosis (HP:0004440)	0.95614747
81	Abnormality of the frontal sinuses (HP:0002687)	0.92874205
82	Gangrene (HP:0100758)	0.92742142
83	Hyperhidrosis (HP:0000975)	0.91517721
84	Skin ulcer (HP:0200042)	0.89360457
85	Neonatal onset (HP:0003623)	0.89085473
86	Corneal dystrophy (HP:0001131)	0.88303595
87	Atrophic scars (HP:0001075)	0.87647185
88	Fragile skin (HP:0001030)	0.87602418
89	Carious teeth (HP:0000670)	0.87562827
90	Ventricular tachycardia (HP:0004756)	0.85671147
91	Generalized hyperpigmentation (HP:0007440)	0.83860848
92	Abnormality of the fingernails (HP:0001231)	0.83559009
93	Conical tooth (HP:0000698)	0.83379584
94	Abnormality of the salivary glands (HP:0010286)	0.83308091
95	Vascular tortuosity (HP:0004948)	0.83146488
96	Shallow orbits (HP:0000586)	0.83022732
97	Soft skin (HP:0000977)	0.82592390
98	Thin bony cortex (HP:0002753)	0.81224799
99	Type 1 muscle fiber predominance (HP:0003803)	0.80641144
100	Mildly elevated creatine phosphokinase (HP:0008180)	0.79332428

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K6	4.13124073
2	MYLK	3.87597890
3	MAPKAPK3	3.71903754
4	TGFBR1	3.58075417
5	PIK3CG	3.50898597
6	EPHB2	3.16055006
7	RIPK1	3.03088775
8	STK24	2.35637152
9	TESK1	2.31964049
10	LATS1	2.17418775
11	NEK9	2.16239702
12	PDGFRA	2.06234872
13	FER	1.97660991
14	EPHA2	1.97170729
15	STK39	1.96968381
16	SIK1	1.85201915
17	PRPF4B	1.79831763
18	PTK2	1.78608625
19	MAP3K3	1.76380326
20	LMTK2	1.74771282
21	EEF2K	1.71278355
22	ERN1	1.70280951
23	MAPK7	1.66069354
24	PRKD2	1.62321214
25	DDR2	1.58880773
26	PAK4	1.57628912
27	TRIB3	1.52037680
28	MAP3K12	1.51694527
29	LATS2	1.49787035
30	PAK2	1.49472353
31	MAP3K2	1.48471977
32	FGFR3	1.42469119
33	TGFBR2	1.42444585
34	LIMK1	1.28566018
35	DYRK1B	1.27545910
36	TTN	1.25360456
37	FGFR1	1.23552188
38	TRPM7	1.22518260
39	STK38	1.15052738
40	MAPK12	1.14428570
41	RPS6KB2	1.12104091
42	ILK	1.08923822
43	STK38L	1.04755349
44	MAP2K6	0.97003445
45	CDK6	0.96461986
46	CDC42BPA	0.94456345
47	MAPKAPK2	0.93668568
48	MST1R	0.88425258
49	FGFR2	0.82917983
50	MAPKAPK5	0.78354455
51	ROCK1	0.73700160
52	MAP2K4	0.73170979
53	ABL2	0.70848301
54	ROCK2	0.67840690
55	TAOK2	0.67210130
56	KSR2	0.66263953
57	TAOK1	0.66141233
58	MOS	0.65977764
59	PDGFRB	0.64708265
60	PIK3CA	0.64481975
61	WNK1	0.64362543
62	SMG1	0.63786991
63	LRRK2	0.63302035
64	DAPK3	0.62599277
65	KIT	0.61377463
66	GSK3A	0.61021245
67	STK3	0.60802073
68	EPHB1	0.59002052
69	PIM2	0.58943531
70	PTK6	0.58822456
71	ADRBK1	0.57234515
72	MET	0.53827176
73	MAP2K3	0.52965061
74	RET	0.52181030
75	NTRK1	0.51988203
76	MAP3K7	0.51907653
77	BCR	0.48041063
78	FGFR4	0.47500059
79	PRKD1	0.45506752
80	DMPK	0.43239745
81	OXSR1	0.42550736
82	MARK2	0.41795586
83	MAP2K1	0.41478771
84	MAP3K1	0.40086410
85	RPS6KB1	0.37153588
86	PINK1	0.33216653
87	MAP3K5	0.32695273
88	PRKCE	0.30932408
89	MAPK4	0.30314102
90	ICK	0.30027961
91	RPS6KA2	0.28549312
92	MTOR	0.27733886
93	SRC	0.25694056
94	CDK7	0.22392081
95	ABL1	0.21425787
96	SGK3	0.20694682
97	PAK3	0.20386126
98	PDPK1	0.20003769
99	MINK1	0.18206842
100	PRKCD	0.16146916

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid elongation_Homo sapiens_hsa00062	7.93307910
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	4.62430473
3	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	4.08376222
4	Vitamin digestion and absorption_Homo sapiens_hsa04977	3.90827262
5	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.64616074
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.26451273
7	Phototransduction_Homo sapiens_hsa04744	2.20744609
8	Fatty acid metabolism_Homo sapiens_hsa01212	2.05996541
9	Sphingolipid metabolism_Homo sapiens_hsa00600	2.05385844
10	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.93536513
11	Steroid biosynthesis_Homo sapiens_hsa00100	1.77870279
12	ECM-receptor interaction_Homo sapiens_hsa04512	1.75642644
13	Histidine metabolism_Homo sapiens_hsa00340	1.71485571
14	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.69483211
15	Retinol metabolism_Homo sapiens_hsa00830	1.64898576
16	Ether lipid metabolism_Homo sapiens_hsa00565	1.53631969
17	GnRH signaling pathway_Homo sapiens_hsa04912	1.46712560
18	PPAR signaling pathway_Homo sapiens_hsa03320	1.42934667
19	Phenylalanine metabolism_Homo sapiens_hsa00360	1.41388516
20	Glycerolipid metabolism_Homo sapiens_hsa00561	1.40351703
21	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.25564802
22	Renin secretion_Homo sapiens_hsa04924	1.24080796
23	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.21146709
24	beta-Alanine metabolism_Homo sapiens_hsa00410	1.13140761
25	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.11525007
26	Fat digestion and absorption_Homo sapiens_hsa04975	1.05204925
27	Glioma_Homo sapiens_hsa05214	0.97089605
28	Fatty acid degradation_Homo sapiens_hsa00071	0.95786018
29	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.95547355
30	Lysosome_Homo sapiens_hsa04142	0.94630203
31	Melanogenesis_Homo sapiens_hsa04916	0.88592100
32	Gastric acid secretion_Homo sapiens_hsa04971	0.84344879
33	Focal adhesion_Homo sapiens_hsa04510	0.82498548
34	Salivary secretion_Homo sapiens_hsa04970	0.82326798
35	Collecting duct acid secretion_Homo sapiens_hsa04966	0.80980897
36	Pertussis_Homo sapiens_hsa05133	0.80635271
37	Long-term potentiation_Homo sapiens_hsa04720	0.78351239
38	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.76839093
39	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.76321470
40	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.75891203
41	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.75855696
42	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.75647110
43	Ras signaling pathway_Homo sapiens_hsa04014	0.74330343
44	VEGF signaling pathway_Homo sapiens_hsa04370	0.73331255
45	Malaria_Homo sapiens_hsa05144	0.72225840
46	Protein digestion and absorption_Homo sapiens_hsa04974	0.70493628
47	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.69959095
48	Vibrio cholerae infection_Homo sapiens_hsa05110	0.65517752
49	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.65134577
50	Amphetamine addiction_Homo sapiens_hsa05031	0.64828326
51	Proteoglycans in cancer_Homo sapiens_hsa05205	0.62253409
52	Estrogen signaling pathway_Homo sapiens_hsa04915	0.60879155
53	Amoebiasis_Homo sapiens_hsa05146	0.58568499
54	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.56833156
55	Axon guidance_Homo sapiens_hsa04360	0.55172974
56	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.52076267
57	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.51926253
58	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.50986140
59	Bladder cancer_Homo sapiens_hsa05219	0.49528138
60	Rap1 signaling pathway_Homo sapiens_hsa04015	0.49200710
61	Peroxisome_Homo sapiens_hsa04146	0.48742393
62	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.46919656
63	Tyrosine metabolism_Homo sapiens_hsa00350	0.43391972
64	Long-term depression_Homo sapiens_hsa04730	0.40638417
65	Pyruvate metabolism_Homo sapiens_hsa00620	0.40321693
66	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.39773802
67	Glucagon signaling pathway_Homo sapiens_hsa04922	0.39545378
68	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.37662307
69	Pancreatic secretion_Homo sapiens_hsa04972	0.35890428
70	Serotonergic synapse_Homo sapiens_hsa04726	0.35836913
71	Adherens junction_Homo sapiens_hsa04520	0.35108441
72	Thyroid cancer_Homo sapiens_hsa05216	0.34591541
73	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.34122910
74	Tuberculosis_Homo sapiens_hsa05152	0.34087576
75	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.33544224
76	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.32361975
77	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.32327900
78	Insulin signaling pathway_Homo sapiens_hsa04910	0.31676574
79	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.31451080
80	Olfactory transduction_Homo sapiens_hsa04740	0.30646262
81	Circadian entrainment_Homo sapiens_hsa04713	0.29824899
82	MicroRNAs in cancer_Homo sapiens_hsa05206	0.28618948
83	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.27876561
84	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.27397232
85	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.27389640
86	Phagosome_Homo sapiens_hsa04145	0.27254749
87	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.27211196
88	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.25895624
89	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.25680548
90	Platelet activation_Homo sapiens_hsa04611	0.24795502
91	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.24589833
92	Hippo signaling pathway_Homo sapiens_hsa04390	0.24311743
93	Dopaminergic synapse_Homo sapiens_hsa04728	0.23648077
94	Nitrogen metabolism_Homo sapiens_hsa00910	0.23405166
95	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.23145957
96	Choline metabolism in cancer_Homo sapiens_hsa05231	0.22913431
97	Tight junction_Homo sapiens_hsa04530	0.22855106
98	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.22578632
99	Renin-angiotensin system_Homo sapiens_hsa04614	0.22534557
100	Basal cell carcinoma_Homo sapiens_hsa05217	0.22068507

KRTAP1-1

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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