ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	* mesoderm development (GO:0007498)	8.16298395
2	* mesenchyme development (GO:0060485)	7.44846315
3	* gonadal mesoderm development (GO:0007506)	62.1347813
4	sex differentiation (GO:0007548)	6.71222181
5	N-acetylneuraminate metabolic process (GO:0006054)	6.31886007
6	* nucleosome assembly (GO:0006334)	4.79526162
7	* protein-DNA complex assembly (GO:0065004)	4.05559635
8	* nucleosome organization (GO:0034728)	3.86813501
9	* protein-DNA complex subunit organization (GO:0071824)	3.37157147
10	protein K48-linked deubiquitination (GO:0071108)	3.36129436
11	interleukin-6-mediated signaling pathway (GO:0070102)	3.29464377
12	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.22810998
13	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.22810998
14	protein K63-linked deubiquitination (GO:0070536)	3.20212744
15	regulation of activation of Janus kinase activity (GO:0010533)	3.18357964
16	regulation of isotype switching to IgG isotypes (GO:0048302)	2.77232444
17	sialylation (GO:0097503)	2.72745543
18	apoptotic cell clearance (GO:0043277)	2.68869840
19	signal peptide processing (GO:0006465)	2.64753204
20	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.64345229
21	positive regulation of inflammatory response to antigenic stimulus (GO:0002863)	2.36751380
22	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	2.28002322
23	positive regulation of mitochondrial membrane permeability (GO:0035794)	2.15042297
24	positive regulation of viral genome replication (GO:0045070)	2.05952948
25	cellular response to interleukin-6 (GO:0071354)	2.04590827
26	ER overload response (GO:0006983)	2.04283161
27	ribosomal small subunit biogenesis (GO:0042274)	2.03755562
28	positive regulation of alpha-beta T cell proliferation (GO:0046641)	1.98480302
29	ganglioside metabolic process (GO:0001573)	1.98356665
30	amyloid precursor protein catabolic process (GO:0042987)	1.93494259
31	protein retention in ER lumen (GO:0006621)	1.92343557
32	cytokine biosynthetic process (GO:0042089)	1.91205576
33	positive regulation of interleukin-2 biosynthetic process (GO:0045086)	1.89389512
34	neutrophil mediated immunity (GO:0002446)	1.87501947
35	sodium ion homeostasis (GO:0055078)	1.85691773
36	response to interleukin-6 (GO:0070741)	1.82332792
37	amyloid precursor protein metabolic process (GO:0042982)	1.81762331
38	negative regulation of Notch signaling pathway (GO:0045746)	1.81241622
39	regulation of chromatin binding (GO:0035561)	1.76561790
40	cellular sodium ion homeostasis (GO:0006883)	1.76230887
41	complement activation, classical pathway (GO:0006958)	1.72571773
42	* reproductive structure development (GO:0048608)	1.72002328
43	negative thymic T cell selection (GO:0045060)	1.71039335
44	amino sugar metabolic process (GO:0006040)	1.70217677
45	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	1.68748969
46	response to misfolded protein (GO:0051788)	1.67773473
47	positive regulation of isotype switching (GO:0045830)	1.65433480
48	negative regulation of interleukin-8 production (GO:0032717)	1.65017613
49	protein N-linked glycosylation via asparagine (GO:0018279)	1.63352977
50	Golgi transport vesicle coating (GO:0048200)	1.62520941
51	COPI coating of Golgi vesicle (GO:0048205)	1.62520941
52	peptidyl-asparagine modification (GO:0018196)	1.62520664
53	* spermatogenesis (GO:0007283)	1.61804939
54	* male gamete generation (GO:0048232)	1.61283925
55	ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	1.59081356
56	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	1.57091617
57	cytokine metabolic process (GO:0042107)	1.56755965
58	labyrinthine layer development (GO:0060711)	1.53765391
59	organ or tissue specific immune response (GO:0002251)	1.53683151
60	regulation of penile erection (GO:0060405)	1.52625925
61	oligosaccharide catabolic process (GO:0009313)	1.52576713
62	negative T cell selection (GO:0043383)	1.51418701
63	protein N-linked glycosylation (GO:0006487)	1.49942512
64	negative regulation of adenylate cyclase activity (GO:0007194)	1.48375546
65	positive regulation of DNA recombination (GO:0045911)	1.46219849
66	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	1.45199159
67	positive regulation of renal sodium excretion (GO:0035815)	1.44587969
68	* gamete generation (GO:0007276)	1.44216103
69	monocyte chemotaxis (GO:0002548)	1.41141507
70	negative regulation of cyclase activity (GO:0031280)	1.39791646
71	Fc-epsilon receptor signaling pathway (GO:0038095)	1.39343937
72	proline transport (GO:0015824)	1.39276937
73	nucleoside diphosphate catabolic process (GO:0009134)	1.39272081
74	autophagic vacuole fusion (GO:0000046)	1.37658170
75	modulation by virus of host process (GO:0019054)	1.36809038
76	pH reduction (GO:0045851)	1.35483707
77	regulation of alpha-beta T cell proliferation (GO:0046640)	1.32492020
78	regulation of fever generation (GO:0031620)	1.32163059
79	monoubiquitinated protein deubiquitination (GO:0035520)	1.32130276
80	regulation of defense response to virus by host (GO:0050691)	1.30820273
81	regulation of translational fidelity (GO:0006450)	1.30770648
82	myeloid leukocyte mediated immunity (GO:0002444)	1.30739668
83	positive regulation of urine volume (GO:0035810)	1.30318825
84	membrane protein intracellular domain proteolysis (GO:0031293)	1.30162438
85	regulation of mitochondrial membrane permeability (GO:0046902)	1.30007023
86	regulation of sarcomere organization (GO:0060297)	1.29049708
87	negative regulation of lyase activity (GO:0051350)	1.28201099
88	COPII vesicle coating (GO:0048208)	1.27473763
89	intracellular pH reduction (GO:0051452)	1.26436393
90	regulation of nuclease activity (GO:0032069)	1.26282817
91	regulation of urine volume (GO:0035809)	1.25529842
92	regulation of inflammatory response to antigenic stimulus (GO:0002861)	1.25326563
93	cellular response to topologically incorrect protein (GO:0035967)	1.24950095
94	regulation of membrane permeability (GO:0090559)	1.23622241
95	amino sugar catabolic process (GO:0046348)	1.23192964
96	protein localization to endoplasmic reticulum (GO:0070972)	1.22615713
97	response to endoplasmic reticulum stress (GO:0034976)	1.22048892
98	lens fiber cell development (GO:0070307)	1.21978190
99	endoplasmic reticulum unfolded protein response (GO:0030968)	1.21663246
100	mitotic chromosome condensation (GO:0007076)	1.20966426

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E2F7_22180533_ChIP-Seq_HELA_Human	6.47602578
2	EZH2_22144423_ChIP-Seq_EOC_Human	4.38037669
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.92192375
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.37892854
5	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.15814815
6	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.83936637
7	TFEB_21752829_ChIP-Seq_HELA_Human	2.75666582
8	DROSHA_22980978_ChIP-Seq_HELA_Human	2.74862487
9	MYC_22102868_ChIP-Seq_BL_Human	2.73675896
10	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.61891414
11	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	2.52401108
12	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.39020102
13	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.32269738
14	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	2.24703943
15	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.21822714
16	SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human	2.20390156
17	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	2.17735376
18	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.16929431
19	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.16300631
20	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.11516582
21	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.07821829
22	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.06986684
23	CIITA_25753668_ChIP-Seq_RAJI_Human	2.06914650
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.03519878
25	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.98405788
26	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	1.96823462
27	SCL_19346495_ChIP-Seq_HPC-7_Human	1.96412180
28	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.94961435
29	KDM5A_27292631_Chip-Seq_BREAST_Human	1.92183831
30	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.87123301
31	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.83782577
32	STAT1_20625510_ChIP-Seq_HELA_Human	1.83630799
33	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.82363882
34	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.78749492
35	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.72644250
36	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.71477706
37	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.71343507
38	GABP_19822575_ChIP-Seq_HepG2_Human	1.61816091
39	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.59261556
40	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.56646874
41	TTF2_22483619_ChIP-Seq_HELA_Human	1.53587821
42	ERG_20887958_ChIP-Seq_HPC-7_Mouse	1.53221103
43	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.49710571
44	FOXP3_21729870_ChIP-Seq_TREG_Human	1.46064012
45	RUNX_20019798_ChIP-Seq_JUKART_Human	1.40722631
46	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.39025440
47	VDR_23849224_ChIP-Seq_CD4+_Human	1.36852106
48	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.36817791
49	MYB_26560356_Chip-Seq_TH2_Human	1.35966831
50	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.35236808
51	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.33910498
52	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.30293882
53	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.29379034
54	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.28453682
55	DCP1A_22483619_ChIP-Seq_HELA_Human	1.27362471
56	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.24916851
57	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	1.23871120
58	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.19877929
59	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.19395078
60	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.19056819
61	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.18654842
62	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.18298100
63	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.17291232
64	ELK1_19687146_ChIP-ChIP_HELA_Human	1.16302862
65	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.13260960
66	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.12810342
67	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.09296035
68	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.07789695
69	MYB_26560356_Chip-Seq_TH1_Human	1.07565519
70	ASXL1_24218140_ChIP-Seq_BMDM_Mouse	1.05748527
71	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	1.04979495
72	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.03212425
73	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.01667458
74	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.99480651
75	IGF1R_20145208_ChIP-Seq_DFB_Human	0.99217101
76	AR_21572438_ChIP-Seq_LNCaP_Human	0.99065316
77	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.98204470
78	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.97139058
79	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	0.97124452
80	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.95214793
81	RBPJ_21746931_ChIP-Seq_IB4_Human	0.95093959
82	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.93012422
83	PU.1_20513432_ChIP-Seq_Bcells_Mouse	0.92669147
84	XRN2_22483619_ChIP-Seq_HELA_Human	0.92474755
85	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.91357079
86	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.91136316
87	ER_23166858_ChIP-Seq_MCF-7_Human	0.88025758
88	IRF1_19129219_ChIP-ChIP_H3396_Human	0.87245861
89	GATA3_26560356_Chip-Seq_TH1_Human	0.87075840
90	P300_27268052_Chip-Seq_Bcells_Human	0.86386470
91	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.85660431
92	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.80609674
93	MAF_26560356_Chip-Seq_TH2_Human	0.80436807
94	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.79962080
95	VDR_21846776_ChIP-Seq_THP-1_Human	0.79893089
96	SMRT_27268052_Chip-Seq_Bcells_Human	0.78936599
97	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.77958820
98	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.77787235
99	BCOR_27268052_Chip-Seq_Bcells_Human	0.76482836
100	BRD4_27068464_Chip-Seq_AML-cells_Mouse	0.75251407

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003303_peritoneal_inflammation	9.16663869
2	MP0003136_yellow_coat_color	6.49393840
3	MP0001348_abnormal_lacrimal_gland	4.27646545
4	MP0005171_absent_coat_pigmentation	4.17791428
5	MP0009333_abnormal_splenocyte_physiolog	3.31713096
6	MP0005058_abnormal_lysosome_morphology	3.00381803
7	MP0004043_abnormal_pH_regulation	2.67574082
8	MP0003183_abnormal_peptide_metabolism	2.65471727
9	MP0008057_abnormal_DNA_replication	2.54425634
10	MP0002822_catalepsy	2.33038400
11	MP0005670_abnormal_white_adipose	2.32217684
12	MP0002168_other_aberrant_phenotype	2.30833067
13	MP0003693_abnormal_embryo_hatching	2.21277690
14	MP0005451_abnormal_body_composition	2.16826625
15	MP0005671_abnormal_response_to	1.93226061
16	MP0005174_abnormal_tail_pigmentation	1.73885074
17	MP0001663_abnormal_digestive_system	1.63715648
18	MP0005395_other_phenotype	1.62237977
19	MP0008995_early_reproductive_senescence	1.59610199
20	MP0009840_abnormal_foam_cell	1.45553931
21	MP0001905_abnormal_dopamine_level	1.45409310
22	MP0003172_abnormal_lysosome_physiology	1.40913577
23	MP0003763_abnormal_thymus_physiology	1.38918543
24	MP0001501_abnormal_sleep_pattern	1.37651400
25	MP0002090_abnormal_vision	1.37033380
26	MP0005220_abnormal_exocrine_pancreas	1.36924291
27	MP0000685_abnormal_immune_system	1.32800519
28	MP0008569_lethality_at_weaning	1.31757266
29	MP0003045_fibrosis	1.30623975
30	MP0003111_abnormal_nucleus_morphology	1.28268683
31	MP0000747_muscle_weakness	1.27891193
32	MP0009046_muscle_twitch	1.22070031
33	MP0003868_abnormal_feces_composition	1.20582424
34	MP0005381_digestive/alimentary_phenotyp	1.19740682
35	MP0005408_hypopigmentation	1.18989530
36	MP0002138_abnormal_hepatobiliary_system	1.16240616
37	MP0001800_abnormal_humoral_immune	1.02825072
38	MP0010307_abnormal_tumor_latency	1.02659535
39	MP0002075_abnormal_coat/hair_pigmentati	1.02073899
40	MP0001440_abnormal_grooming_behavior	1.00485351
41	MP0003077_abnormal_cell_cycle	1.00411450
42	MP0001186_pigmentation_phenotype	1.00248695
43	MP0004957_abnormal_blastocyst_morpholog	0.98638120
44	MP0004142_abnormal_muscle_tone	0.97251694
45	MP0002693_abnormal_pancreas_physiology	0.96689483
46	MP0000470_abnormal_stomach_morphology	0.95590053
47	MP0009785_altered_susceptibility_to	0.95376277
48	MP0001324_abnormal_eye_pigmentation	0.94963611
49	MP0003943_abnormal_hepatobiliary_system	0.92781632
50	MP0000689_abnormal_spleen_morphology	0.90548917
51	MP0002229_neurodegeneration	0.85076065
52	MP0002751_abnormal_autonomic_nervous	0.76538340
53	MP0006082_CNS_inflammation	0.75821106
54	MP0000716_abnormal_immune_system	0.73118997
55	MP0002064_seizures	0.72999082
56	MP0001188_hyperpigmentation	0.72870076
57	MP0002928_abnormal_bile_duct	0.70568254
58	MP0004808_abnormal_hematopoietic_stem	0.69510032
59	MP0005423_abnormal_somatic_nervous	0.69366784
60	MP0001756_abnormal_urination	0.69210585
61	MP0002398_abnormal_bone_marrow	0.68429148
62	MP0001666_abnormal_nutrient_absorption	0.68295808
63	MP0002396_abnormal_hematopoietic_system	0.68267506
64	MP0003718_maternal_effect	0.67530960
65	MP0003786_premature_aging	0.66884457
66	MP0008961_abnormal_basal_metabolism	0.66871611
67	MP0009672_abnormal_birth_weight	0.66857361
68	MP0008932_abnormal_embryonic_tissue	0.66242905
69	MP0005464_abnormal_platelet_physiology	0.65761112
70	MP0002429_abnormal_blood_cell	0.65615041
71	MP0005083_abnormal_biliary_tract	0.64950997
72	MP0000703_abnormal_thymus_morphology	0.64515306
73	MP0002452_abnormal_antigen_presenting	0.64247904
74	MP0009745_abnormal_behavioral_response	0.63424896
75	MP0003698_abnormal_male_reproductive	0.63013053
76	MP0001944_abnormal_pancreas_morphology	0.62862978
77	MP0001529_abnormal_vocalization	0.62846301
78	MP0001145_abnormal_male_reproductive	0.62693184
79	MP0000350_abnormal_cell_proliferation	0.62339349
80	MP0001765_abnormal_ion_homeostasis	0.61691368
81	MP0002095_abnormal_skin_pigmentation	0.61581737
82	MP0005025_abnormal_response_to	0.61396611
83	MP0001851_eye_inflammation	0.61381638
84	MP0009643_abnormal_urine_homeostasis	0.61123249
85	MP0000639_abnormal_adrenal_gland	0.60558497
86	MP0000371_diluted_coat_color	0.59405222
87	MP0002557_abnormal_social/conspecific_i	0.55673138
88	MP0000372_irregular_coat_pigmentation	0.55572807
89	MP0002210_abnormal_sex_determination	0.55065191
90	MP0001661_extended_life_span	0.54274081
91	MP0002722_abnormal_immune_system	0.52646581
92	MP0001730_embryonic_growth_arrest	0.52344067
93	MP0005377_hearing/vestibular/ear_phenot	0.51707437
94	MP0003878_abnormal_ear_physiology	0.51707437
95	MP0002420_abnormal_adaptive_immunity	0.51575394
96	MP0004883_abnormal_blood_vessel	0.51290622
97	MP0010094_abnormal_chromosome_stability	0.51109107
98	MP0001845_abnormal_inflammatory_respons	0.51077744
99	MP0002723_abnormal_immune_serum	0.51041588
100	MP0003631_nervous_system_phenotype	0.50719687

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Increased neuronal autofluorescent lipopigment (HP:0002074)	6.63015859
2	Increased cerebral lipofuscin (HP:0011813)	6.30288358
3	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	5.99698461
4	Decreased circulating renin level (HP:0003351)	4.64121873
5	Large for gestational age (HP:0001520)	4.58258500
6	Hyperactive renin-angiotensin system (HP:0000841)	4.56643989
7	Albinism (HP:0001022)	4.31890146
8	Dysmetric saccades (HP:0000641)	4.20291987
9	Abnormal protein glycosylation (HP:0012346)	3.99287377
10	Abnormal glycosylation (HP:0012345)	3.99287377
11	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	3.99287377
12	Abnormal protein N-linked glycosylation (HP:0012347)	3.99287377
13	Vacuolated lymphocytes (HP:0001922)	3.74185317
14	Genetic anticipation (HP:0003743)	3.67300000
15	Abnormality of binocular vision (HP:0011514)	3.60141022
16	Diplopia (HP:0000651)	3.60141022
17	Abnormality of liposaccharide metabolism (HP:0010968)	3.47011664
18	Abnormality of glycosphingolipid metabolism (HP:0004343)	3.47011664
19	Abnormality of glycolipid metabolism (HP:0010969)	3.47011664
20	Abnormality of incisor morphology (HP:0011063)	3.37018768
21	Aplasia/Hypoplasia of the sacrum (HP:0008517)	3.24274831
22	Overlapping toe (HP:0001845)	3.20343903
23	Patchy hypopigmentation of hair (HP:0011365)	3.20125314
24	Dysostosis multiplex (HP:0000943)	3.18988941
25	Hyperkalemia (HP:0002153)	3.18425767
26	Carpal bone hypoplasia (HP:0001498)	3.11721078
27	Type I transferrin isoform profile (HP:0003642)	3.06950199
28	Progressive visual loss (HP:0000529)	3.06864125
29	Visual hallucinations (HP:0002367)	2.92428255
30	Chronic bronchitis (HP:0004469)	2.92039905
31	Retinal dysplasia (HP:0007973)	2.83082605
32	Proximal tubulopathy (HP:0000114)	2.80346793
33	Abnormal tarsal ossification (HP:0008369)	2.73145511
34	Reduced antithrombin III activity (HP:0001976)	2.72422034
35	Thoracolumbar scoliosis (HP:0002944)	2.69972462
36	Abnormal auditory evoked potentials (HP:0006958)	2.69158069
37	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.66115324
38	Onycholysis (HP:0001806)	2.64277442
39	Hypoplasia of the iris (HP:0007676)	2.63637386
40	Hypokalemic alkalosis (HP:0001949)	2.61586162
41	Spinal cord lesions (HP:0100561)	2.59834610
42	Syringomyelia (HP:0003396)	2.59834610
43	Ankyloglossia (HP:0010296)	2.58380241
44	Unilateral renal agenesis (HP:0000122)	2.56796909
45	Hyperaldosteronism (HP:0000859)	2.54235719
46	Abnormal autonomic nervous system physiology (HP:0012332)	2.51570597
47	Autoimmune hemolytic anemia (HP:0001890)	2.49052478
48	Severe visual impairment (HP:0001141)	2.48581305
49	Ridged nail (HP:0001807)	2.48108117
50	Short middle phalanx of the 5th finger (HP:0004220)	2.44042886
51	Hypopigmentation of the fundus (HP:0007894)	2.43909058
52	White forelock (HP:0002211)	2.42427536
53	Abnormal delayed hypersensitivity skin test (HP:0002963)	2.39565748
54	Renal salt wasting (HP:0000127)	2.38837513
55	Abnormality of the lumbar spine (HP:0100712)	2.37810938
56	Abnormality of chloride homeostasis (HP:0011422)	2.37088688
57	Vertebral compression fractures (HP:0002953)	2.36268866
58	Abnormality of renin-angiotensin system (HP:0000847)	2.35478074
59	Breast hypoplasia (HP:0003187)	2.30620291
60	Deformed sella turcica (HP:0002681)	2.28326342
61	Tetraparesis (HP:0002273)	2.22671189
62	Dry hair (HP:0011359)	2.21103868
63	Abnormality of macular pigmentation (HP:0008002)	2.20854040
64	Adrenal overactivity (HP:0002717)	2.20333672
65	Generalized hypopigmentation (HP:0007513)	2.19578416
66	Conical tooth (HP:0000698)	2.19339485
67	Progressive cerebellar ataxia (HP:0002073)	2.18971408
68	Central scotoma (HP:0000603)	2.18553109
69	Abnormality of T cell physiology (HP:0011840)	2.17920496
70	Long eyelashes (HP:0000527)	2.16044022
71	Hyponatremia (HP:0002902)	2.13873975
72	Exocrine pancreatic insufficiency (HP:0001738)	2.13657539
73	Abnormality of the intrinsic pathway (HP:0010989)	2.13458618
74	Chronic mucocutaneous candidiasis (HP:0002728)	2.11217786
75	Recurrent cutaneous fungal infections (HP:0011370)	2.11217786
76	Premature graying of hair (HP:0002216)	2.10968486
77	Small epiphyses (HP:0010585)	2.08976815
78	Spastic paraparesis (HP:0002313)	2.08778153
79	Urethral obstruction (HP:0000796)	2.05497158
80	Microretrognathia (HP:0000308)	2.05465890
81	Abnormal number of erythroid precursors (HP:0012131)	2.03998684
82	Abnormality of the columella (HP:0009929)	2.02965364
83	Upper limb muscle weakness (HP:0003484)	1.99865131
84	Global brain atrophy (HP:0002283)	1.96742925
85	Reticulocytopenia (HP:0001896)	1.96530483
86	Hyperlipoproteinemia (HP:0010980)	1.96230189
87	Abnormality of the distal phalanges of the toes (HP:0010182)	1.94120525
88	Coarse hair (HP:0002208)	1.93954602
89	Plantar hyperkeratosis (HP:0007556)	1.90978056
90	Acute hepatic failure (HP:0006554)	1.89646039
91	Hypercortisolism (HP:0001578)	1.86431626
92	Abnormality of oral frenula (HP:0000190)	1.86197197
93	Selective tooth agenesis (HP:0001592)	1.83634980
94	Abnormality of the incisor (HP:0000676)	1.83479160
95	Deep palmar crease (HP:0006191)	1.82735663
96	Abnormal pupillary function (HP:0007686)	1.82247425
97	Increased IgE level (HP:0003212)	1.82234652
98	Birth length less than 3rd percentile (HP:0003561)	1.78161169
99	Erythema (HP:0010783)	1.77950071
100	J-shaped sella turcica (HP:0002680)	1.76663717

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PRPF4B	6.58985668
2	EIF2AK3	4.97058206
3	MAP3K9	3.07455671
4	ITK	2.99951345
5	FRK	2.98036810
6	TAOK2	2.98017585
7	ERN1	2.93333658
8	ARAF	2.90089283
9	IRAK3	2.89055630
10	TAF1	2.65834783
11	BRAF	2.54694424
12	KSR2	2.54606871
13	CDK3	2.54058726
14	CDK19	2.38881162
15	NME2	2.17471598
16	INSRR	2.16255048
17	SCYL2	1.90297476
18	SIK3	1.80944152
19	MAP3K13	1.71982600
20	MAPK7	1.60838309
21	TESK2	1.59764599
22	MARK3	1.59389675
23	EEF2K	1.53158579
24	SIK1	1.28036306
25	CDC7	1.25919100
26	STK10	1.21296555
27	BMPR1B	1.19249672
28	LRRK2	1.18261699
29	KSR1	1.16208254
30	MOS	1.11768098
31	RAF1	1.05587163
32	TAOK3	1.04528080
33	BRSK1	0.99868253
34	MAP3K10	0.98561275
35	ICK	0.95921138
36	MAP3K14	0.83989126
37	IRAK2	0.83909282
38	STK16	0.83753062
39	CDK8	0.83534580
40	MAP3K8	0.81005986
41	IRAK1	0.80538208
42	DAPK2	0.80049452
43	GRK6	0.77897524
44	CSF1R	0.76081585
45	AKT3	0.73161758
46	MAPK12	0.71442758
47	NTRK3	0.70764493
48	MARK2	0.70547857
49	MAP3K1	0.68433072
50	PDK1	0.67770918
51	TTK	0.67045576
52	AKT2	0.64955250
53	NME1	0.63570117
54	PDPK1	0.62834351
55	PRKCH	0.59174036
56	RPS6KB1	0.56894320
57	IRAK4	0.56773042
58	SIK2	0.56372078
59	TGFBR1	0.52668883
60	CDK7	0.52015612
61	MAP2K2	0.51304500
62	JAK1	0.50510488
63	MST4	0.49409036
64	IKBKB	0.48916199
65	CSNK2A1	0.46584225
66	CHEK1	0.45773648
67	CDK11A	0.43990576
68	MELK	0.43432962
69	TNK2	0.42525284
70	EIF2AK1	0.41970713
71	TBK1	0.39413617
72	ACVR1B	0.39145714
73	JAK2	0.38477870
74	CDK15	0.38288512
75	CDK18	0.36703700
76	TYK2	0.36057645
77	PAK1	0.34411591
78	PIM1	0.33490961
79	MAP3K2	0.30289869
80	DYRK1B	0.29852628
81	WEE1	0.29215177
82	CDK14	0.28591794
83	NTRK2	0.28412365
84	BMX	0.26895518
85	MTOR	0.26683843
86	TRIM28	0.26675169
87	NEK2	0.26260130
88	PASK	0.26178250
89	CDK1	0.25902402
90	PRKCI	0.25640724
91	AURKA	0.25626411
92	CHUK	0.25501623
93	PRKCG	0.23945441
94	SRPK1	0.23520793
95	CDK2	0.22935148
96	SGK2	0.22325311
97	PRKCE	0.20824319
98	GSK3B	0.20546869
99	CDK4	0.20475534
100	ALK	0.20191757

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	N-Glycan biosynthesis_Homo sapiens_hsa00510	5.67045495
2	Intestinal immune network for IgA production_Homo sapiens_hsa04672	4.31398903
3	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	3.64681156
4	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	3.55478619
5	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.07155174
6	DNA replication_Homo sapiens_hsa03030	2.39147596
7	Graft-versus-host disease_Homo sapiens_hsa05332	2.14588519
8	Bladder cancer_Homo sapiens_hsa05219	2.06711359
9	Ribosome_Homo sapiens_hsa03010	2.00278192
10	Vibrio cholerae infection_Homo sapiens_hsa05110	1.93556762
11	Non-small cell lung cancer_Homo sapiens_hsa05223	1.80760387
12	Lysosome_Homo sapiens_hsa04142	1.68851027
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.65656153
14	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.65110424
15	One carbon pool by folate_Homo sapiens_hsa00670	1.64593322
16	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.63954871
17	Proteasome_Homo sapiens_hsa03050	1.63102793
18	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.61520030
19	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.53946030
20	Acute myeloid leukemia_Homo sapiens_hsa05221	1.51733439
21	Collecting duct acid secretion_Homo sapiens_hsa04966	1.35969622
22	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.35558874
23	Chronic myeloid leukemia_Homo sapiens_hsa05220	1.35441483
24	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.28125118
25	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	1.26443449
26	T cell receptor signaling pathway_Homo sapiens_hsa04660	1.23841561
27	Glioma_Homo sapiens_hsa05214	1.23423474
28	Mismatch repair_Homo sapiens_hsa03430	1.19361613
29	Pancreatic cancer_Homo sapiens_hsa05212	1.17571438
30	Protein export_Homo sapiens_hsa03060	1.17189712
31	Prostate cancer_Homo sapiens_hsa05215	1.17122189
32	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.14984050
33	Taste transduction_Homo sapiens_hsa04742	1.13638034
34	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.10598495
35	Allograft rejection_Homo sapiens_hsa05330	1.10492065
36	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.09861530
37	Rheumatoid arthritis_Homo sapiens_hsa05323	1.06872591
38	Base excision repair_Homo sapiens_hsa03410	1.06539784
39	Selenocompound metabolism_Homo sapiens_hsa00450	0.99167748
40	Measles_Homo sapiens_hsa05162	0.99063796
41	Other glycan degradation_Homo sapiens_hsa00511	0.96957744
42	Hepatitis B_Homo sapiens_hsa05161	0.94770608
43	Endometrial cancer_Homo sapiens_hsa05213	0.94305952
44	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.93386413
45	Sphingolipid metabolism_Homo sapiens_hsa00600	0.92741852
46	Melanoma_Homo sapiens_hsa05218	0.89819482
47	Non-homologous end-joining_Homo sapiens_hsa03450	0.85283474
48	Prion diseases_Homo sapiens_hsa05020	0.85276019
49	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.83873699
50	Type I diabetes mellitus_Homo sapiens_hsa04940	0.82550028
51	Cell cycle_Homo sapiens_hsa04110	0.82201829
52	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.81822793
53	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.78847402
54	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.74962181
55	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.73672822
56	Pyrimidine metabolism_Homo sapiens_hsa00240	0.72445280
57	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.72081240
58	Antigen processing and presentation_Homo sapiens_hsa04612	0.72030391
59	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.70147570
60	mRNA surveillance pathway_Homo sapiens_hsa03015	0.69242492
61	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.65023137
62	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.64240533
63	Oxidative phosphorylation_Homo sapiens_hsa00190	0.62160414
64	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.62002244
65	Cocaine addiction_Homo sapiens_hsa05030	0.61417837
66	FoxO signaling pathway_Homo sapiens_hsa04068	0.61048232
67	Thyroid cancer_Homo sapiens_hsa05216	0.56708230
68	Purine metabolism_Homo sapiens_hsa00230	0.54297948
69	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.51853806
70	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.51631659
71	RNA transport_Homo sapiens_hsa03013	0.50899029
72	HTLV-I infection_Homo sapiens_hsa05166	0.50617269
73	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.47006745
74	Glutamatergic synapse_Homo sapiens_hsa04724	0.46934305
75	Homologous recombination_Homo sapiens_hsa03440	0.46876458
76	Estrogen signaling pathway_Homo sapiens_hsa04915	0.44792970
77	Long-term potentiation_Homo sapiens_hsa04720	0.44240215
78	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.43807397
79	Renal cell carcinoma_Homo sapiens_hsa05211	0.43797821
80	Melanogenesis_Homo sapiens_hsa04916	0.43783825
81	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.43710470
82	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.42419463
83	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.42019159
84	Hepatitis C_Homo sapiens_hsa05160	0.41134825
85	Parkinsons disease_Homo sapiens_hsa05012	0.40687687
86	Renin-angiotensin system_Homo sapiens_hsa04614	0.39979479
87	Viral myocarditis_Homo sapiens_hsa05416	0.39246764
88	Sulfur relay system_Homo sapiens_hsa04122	0.38624641
89	MicroRNAs in cancer_Homo sapiens_hsa05206	0.38499267
90	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.35937666
91	Apoptosis_Homo sapiens_hsa04210	0.35251298
92	Sulfur metabolism_Homo sapiens_hsa00920	0.34931522
93	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.33831955
94	VEGF signaling pathway_Homo sapiens_hsa04370	0.33153016
95	RNA polymerase_Homo sapiens_hsa03020	0.31643485
96	ErbB signaling pathway_Homo sapiens_hsa04012	0.30052230
97	Herpes simplex infection_Homo sapiens_hsa05168	0.29750653
98	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.29679843
99	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.29574636
100	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.27877912

TSPY3

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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