ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	transcription from mitochondrial promoter (GO:0006390)	7.16670071
2	chaperone-mediated protein transport (GO:0072321)	6.16709846
3	rRNA modification (GO:0000154)	6.01974031
4	positive regulation of protein homooligomerization (GO:0032464)	5.77589157
5	male meiosis I (GO:0007141)	5.76684640
6	autophagic vacuole assembly (GO:0000045)	5.42757726
7	meiosis I (GO:0007127)	5.12970302
8	rRNA methylation (GO:0031167)	4.93076249
9	ribosomal small subunit biogenesis (GO:0042274)	4.90786518
10	regulation of G0 to G1 transition (GO:0070316)	4.81286348
11	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	4.73626206
12	ribosome assembly (GO:0042255)	4.70802091
13	very-low-density lipoprotein particle assembly (GO:0034379)	4.64847810
14	mitotic metaphase plate congression (GO:0007080)	4.35793756
15	mitochondrial RNA metabolic process (GO:0000959)	4.31688983
16	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.22800175
17	regulation of DNA methylation (GO:0044030)	4.22695648
18	transcription elongation from RNA polymerase III promoter (GO:0006385)	4.19939197
19	termination of RNA polymerase III transcription (GO:0006386)	4.19939197
20	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	4.05671486
21	ventricular cardiac muscle cell development (GO:0055015)	4.01193607
22	regulation of oxidative phosphorylation (GO:0002082)	3.87550675
23	ribosomal small subunit assembly (GO:0000028)	3.78864868
24	attachment of spindle microtubules to kinetochore (GO:0008608)	3.73608848
25	skeletal muscle tissue regeneration (GO:0043403)	3.65717409
26	ribonucleoprotein complex biogenesis (GO:0022613)	3.61196775
27	rRNA processing (GO:0006364)	3.60214935
28	maturation of SSU-rRNA (GO:0030490)	3.59614479
29	response to UV-C (GO:0010225)	3.59076141
30	regulation of spindle organization (GO:0090224)	3.57864708
31	regulation of mitochondrial translation (GO:0070129)	3.56466584
32	pseudouridine synthesis (GO:0001522)	3.55255637
33	positive regulation of chromosome segregation (GO:0051984)	3.47129413
34	rRNA metabolic process (GO:0016072)	3.45333512
35	metaphase plate congression (GO:0051310)	3.41342571
36	protein targeting to mitochondrion (GO:0006626)	3.38811881
37	ribosome biogenesis (GO:0042254)	3.38713918
38	negative regulation of epidermal cell differentiation (GO:0045605)	3.38596438
39	maturation of 5.8S rRNA (GO:0000460)	3.34717150
40	viral transcription (GO:0019083)	3.30569097
41	translational termination (GO:0006415)	3.28624451
42	tRNA methylation (GO:0030488)	3.28019218
43	ribosomal large subunit biogenesis (GO:0042273)	3.21698788
44	protein K6-linked ubiquitination (GO:0085020)	3.20518358
45	regulation of cellular respiration (GO:0043457)	3.20285373
46	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.15734251
47	multicellular organism reproduction (GO:0032504)	3.13463390
48	mitochondrion degradation (GO:0000422)	3.09132646
49	male meiosis (GO:0007140)	3.05157449
50	polyamine biosynthetic process (GO:0006596)	3.05041459
51	protein localization to chromosome, centromeric region (GO:0071459)	3.03950750
52	mitotic chromosome condensation (GO:0007076)	3.03806057
53	mitochondrial fusion (GO:0008053)	3.03594655
54	mitotic sister chromatid segregation (GO:0000070)	3.03379771
55	transcription from RNA polymerase III promoter (GO:0006383)	3.02403030
56	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	24.2681467
57	regulation of retinoic acid receptor signaling pathway (GO:0048385)	20.5000873
58	regulation of protein homooligomerization (GO:0032462)	2.98337507
59	intestinal cholesterol absorption (GO:0030299)	2.97536877
60	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.96496858
61	translational initiation (GO:0006413)	2.94465609
62	establishment of protein localization to mitochondrion (GO:0072655)	2.92945795
63	translational elongation (GO:0006414)	2.91864993
64	regulation of cardioblast differentiation (GO:0051890)	2.91390519
65	negative regulation of transcription by competitive promoter binding (GO:0010944)	2.87286278
66	regulation of transforming growth factor beta2 production (GO:0032909)	2.86327156
67	regulation of mitotic spindle organization (GO:0060236)	2.85468952
68	protein localization to mitochondrion (GO:0070585)	2.84535175
69	positive regulation of cAMP-mediated signaling (GO:0043950)	2.83292676
70	negative regulation of mRNA splicing, via spliceosome (GO:0048025)	2.82637923
71	regulation of exit from mitosis (GO:0007096)	2.81404907
72	translation (GO:0006412)	2.81356683
73	cellular component biogenesis (GO:0044085)	2.80445361
74	meiotic nuclear division (GO:0007126)	2.78843230
75	piRNA metabolic process (GO:0034587)	2.74697770
76	negative regulation of RNA splicing (GO:0033119)	2.74411022
77	lung-associated mesenchyme development (GO:0060484)	2.72378849
78	positive regulation of protein oligomerization (GO:0032461)	2.69624307
79	RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	2.68286744
80	negative regulation of mRNA processing (GO:0050686)	2.64907230
81	negative regulation of epidermis development (GO:0045683)	2.64633153
82	N-terminal protein amino acid acetylation (GO:0006474)	2.64193790
83	regulation of transforming growth factor beta1 production (GO:0032908)	2.63878634
84	spindle assembly involved in mitosis (GO:0090307)	2.61564075
85	ncRNA processing (GO:0034470)	2.61439850
86	DNA replication initiation (GO:0006270)	2.60333979
87	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.59381590
88	meiotic cell cycle (GO:0051321)	2.59096873
89	regulation of gene expression by genetic imprinting (GO:0006349)	2.57863990
90	snRNA transcription (GO:0009301)	2.57503632
91	positive regulation of release of cytochrome c from mitochondria (GO:0090200)	2.56983375
92	negative regulation of mRNA metabolic process (GO:1903312)	2.56014991
93	cellular protein complex disassembly (GO:0043624)	2.55939968
94	transcription elongation from RNA polymerase II promoter (GO:0006368)	2.55062736
95	formation of translation preinitiation complex (GO:0001731)	2.54799025
96	RNA methylation (GO:0001510)	2.54302438
97	meiotic cell cycle process (GO:1903046)	2.53234088
98	regulation of acrosome reaction (GO:0060046)	2.52010037
99	cotranslational protein targeting to membrane (GO:0006613)	2.51691114
100	CENP-A containing nucleosome assembly (GO:0034080)	2.50898137

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.46165671
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.70442227
3	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	3.63179562
4	NOTCH1_21737748_ChIP-Seq_TLL_Human	3.62198446
5	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.45099956
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.44951101
7	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.41782938
8	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.41708487
9	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.39417065
10	E2F7_22180533_ChIP-Seq_HELA_Human	3.25170939
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.11842521
12	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.95797216
13	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	2.88898303
14	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	2.88898303
15	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	2.88898303
16	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.86359782
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.76100047
18	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.71081279
19	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.62417467
20	ZNF263_19887448_ChIP-Seq_K562_Human	2.56825196
21	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.56697108
22	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.54913244
23	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.50425836
24	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.46383301
25	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.40265646
26	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.29944465
27	MYC_19030024_ChIP-ChIP_MESCs_Mouse	2.29142292
28	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.20260403
29	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.08146753
30	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.06034739
31	TTF2_22483619_ChIP-Seq_HELA_Human	2.03781399
32	YY1_21170310_ChIP-Seq_MESCs_Mouse	2.00974048
33	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.99293115
34	GABP_19822575_ChIP-Seq_HepG2_Human	1.97000150
35	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.94217333
36	XRN2_22483619_ChIP-Seq_HELA_Human	1.88754846
37	VDR_23849224_ChIP-Seq_CD4+_Human	1.85481473
38	ZNF274_21170338_ChIP-Seq_K562_Hela	1.73754736
39	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.70694803
40	FOXP3_21729870_ChIP-Seq_TREG_Human	1.67424557
41	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.59758794
42	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.53708937
43	DCP1A_22483619_ChIP-Seq_HELA_Human	1.53275676
44	AR_21909140_ChIP-Seq_LNCAP_Human	1.52770620
45	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.52617004
46	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.46319071
47	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.44322698
48	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.41548542
49	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.34647412
50	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.34255128
51	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.33499680
52	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.30784565
53	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.27242380
54	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.26671985
55	KDM5A_27292631_Chip-Seq_BREAST_Human	1.26533885
56	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.24392527
57	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.24243364
58	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.23397296
59	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.22646907
60	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.21322102
61	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.19010189
62	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.18133663
63	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.17075146
64	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.14455378
65	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.12083392
66	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.08356276
67	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.06701309
68	ETV1_20927104_ChIP-Seq_GIST48_Human	1.06157636
69	CTCF_20526341_ChIP-Seq_ESCs_Human	1.06052909
70	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.03944126
71	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.02434695
72	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.02059970
73	RBPJ_21746931_ChIP-Seq_IB4_Human	1.01607555
74	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.00210406
75	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	0.99541918
76	CIITA_25753668_ChIP-Seq_RAJI_Human	0.99520316
77	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.97943757
78	TP53_22573176_ChIP-Seq_HFKS_Human	0.97504674
79	PHF8_20622853_ChIP-Seq_HELA_Human	0.96882261
80	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.96859865
81	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.95846974
82	IRF1_19129219_ChIP-ChIP_H3396_Human	0.95435355
83	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.95081049
84	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	0.94324208
85	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	0.91922784
86	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.90960225
87	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.90792900
88	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.90545971
89	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.89446149
90	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.89307495
91	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.88516851
92	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.88503087
93	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.88379756
94	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.88295235
95	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	0.87571840
96	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.87237715
97	POU5F1_18692474_ChIP-Seq_MESCs_Mouse	0.86856984
98	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.86690068
99	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.86059435
100	CTCF_18555785_ChIP-Seq_MESCs_Mouse	0.84984933

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	7.73789299
2	MP0005423_abnormal_somatic_nervous	6.55066020
3	MP0008260_abnormal_autophagy	4.69290758
4	MP0003718_maternal_effect	4.27952535
5	MP0003693_abnormal_embryo_hatching	4.06229097
6	MP0009379_abnormal_foot_pigmentation	3.63895475
7	MP0004957_abnormal_blastocyst_morpholog	3.63885508
8	MP0003646_muscle_fatigue	3.16964757
9	MP0003111_abnormal_nucleus_morphology	3.00289104
10	MP0006292_abnormal_olfactory_placode	2.82079523
11	MP0003077_abnormal_cell_cycle	2.60741464
12	MP0009333_abnormal_splenocyte_physiolog	2.40480544
13	MP0008058_abnormal_DNA_repair	2.11122305
14	MP0010094_abnormal_chromosome_stability	1.92947618
15	MP0002127_abnormal_cardiovascular_syste	1.88926064
16	MP0001929_abnormal_gametogenesis	1.73097741
17	MP0001672_abnormal_embryogenesis/_devel	1.72166682
18	MP0005380_embryogenesis_phenotype	1.72166682
19	MP0002160_abnormal_reproductive_system	1.69439635
20	MP0002210_abnormal_sex_determination	1.64188492
21	MP0009840_abnormal_foam_cell	1.62023673
22	MP0001730_embryonic_growth_arrest	1.62012198
23	MP0006036_abnormal_mitochondrial_physio	1.60470593
24	MP0008932_abnormal_embryonic_tissue	1.60377267
25	MP0006035_abnormal_mitochondrial_morpho	1.59778316
26	MP0010030_abnormal_orbit_morphology	1.48538570
27	MP0005394_taste/olfaction_phenotype	1.46288737
28	MP0005499_abnormal_olfactory_system	1.46288737
29	MP0003890_abnormal_embryonic-extraembry	1.45320378
30	MP0003984_embryonic_growth_retardation	1.43797958
31	MP0000350_abnormal_cell_proliferation	1.42781304
32	MP0010307_abnormal_tumor_latency	1.42470887
33	MP0005395_other_phenotype	1.41716882
34	MP0008877_abnormal_DNA_methylation	1.39852152
35	MP0002088_abnormal_embryonic_growth/wei	1.37958044
36	MP0001697_abnormal_embryo_size	1.37285423
37	MP0000358_abnormal_cell_content/	1.34303380
38	MP0000462_abnormal_digestive_system	1.32925999
39	MP0003186_abnormal_redox_activity	1.29092175
40	MP0002796_impaired_skin_barrier	1.25698377
41	MP0005389_reproductive_system_phenotype	1.24658323
42	MP0003806_abnormal_nucleotide_metabolis	1.20499046
43	MP0005410_abnormal_fertilization	1.19299070
44	MP0000750_abnormal_muscle_regeneration	1.17460499
45	MP0003938_abnormal_ear_development	1.16453287
46	MP0002085_abnormal_embryonic_tissue	1.15783714
47	MP0008789_abnormal_olfactory_epithelium	1.15418358
48	MP0002080_prenatal_lethality	1.13652682
49	MP0003699_abnormal_female_reproductive	1.08642092
50	MP0000490_abnormal_crypts_of	1.05789413
51	MP0002084_abnormal_developmental_patter	1.04281993
52	MP0002277_abnormal_respiratory_mucosa	1.03968115
53	MP0005451_abnormal_body_composition	1.03797250
54	MP0002161_abnormal_fertility/fecundity	1.03557304
55	MP0002086_abnormal_extraembryonic_tissu	1.03274910
56	MP0003698_abnormal_male_reproductive	1.01453544
57	MP0008995_early_reproductive_senescence	1.00561345
58	MP0000653_abnormal_sex_gland	0.99926727
59	MP0003191_abnormal_cellular_cholesterol	0.99233659
60	MP0008057_abnormal_DNA_replication	0.99151587
61	MP0003787_abnormal_imprinting	0.98486293
62	MP0001145_abnormal_male_reproductive	0.97858803
63	MP0003119_abnormal_digestive_system	0.95223720
64	MP0001346_abnormal_lacrimal_gland	0.93930348
65	MP0004019_abnormal_vitamin_homeostasis	0.93506193
66	MP0000313_abnormal_cell_death	0.89816297
67	MP0001666_abnormal_nutrient_absorption	0.82886752
68	MP0003136_yellow_coat_color	0.82247422
69	MP0001881_abnormal_mammary_gland	0.81029723
70	MP0000015_abnormal_ear_pigmentation	0.77200915
71	MP0005501_abnormal_skin_physiology	0.76465260
72	MP0005058_abnormal_lysosome_morphology	0.74284409
73	MP0004233_abnormal_muscle_weight	0.72075786
74	MP0001529_abnormal_vocalization	0.69945772
75	MP0003943_abnormal_hepatobiliary_system	0.69384031
76	MP0005647_abnormal_sex_gland	0.69136422
77	MP0002332_abnormal_exercise_endurance	0.68296417
78	MP0000049_abnormal_middle_ear	0.66814186
79	MP0001919_abnormal_reproductive_system	0.64673341
80	MP0003121_genomic_imprinting	0.63260740
81	MP0003936_abnormal_reproductive_system	0.62556012
82	MP0002169_no_abnormal_phenotype	0.62179068
83	MP0002873_normal_phenotype	0.62080712
84	MP0001293_anophthalmia	0.60060882
85	MP0002254_reproductive_system_inflammat	0.59672048
86	MP0005085_abnormal_gallbladder_physiolo	0.57956958
87	MP0000647_abnormal_sebaceous_gland	0.56331016
88	MP0001119_abnormal_female_reproductive	0.56074821
89	MP0000678_abnormal_parathyroid_gland	0.52687514
90	MP0001905_abnormal_dopamine_level	0.51379002
91	MP0002735_abnormal_chemical_nociception	0.50818262
92	MP0001286_abnormal_eye_development	0.49395555
93	MP0004215_abnormal_myocardial_fiber	0.48181590
94	MP0002163_abnormal_gland_morphology	0.47550114
95	MP0003786_premature_aging	0.46875698
96	MP0000477_abnormal_intestine_morphology	0.46075593
97	MP0006276_abnormal_autonomic_nervous	0.45256022
98	MP0005379_endocrine/exocrine_gland_phen	0.45081595
99	MP0000470_abnormal_stomach_morphology	0.43485908
100	MP0003935_abnormal_craniofacial_develop	0.42708696

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	6.20971079
2	Microvesicular hepatic steatosis (HP:0001414)	4.63540909
3	Congenital malformation of the right heart (HP:0011723)	4.36167647
4	Double outlet right ventricle (HP:0001719)	4.36167647
5	Birth length less than 3rd percentile (HP:0003561)	4.23584595
6	Patent foramen ovale (HP:0001655)	4.21587998
7	Carpal bone hypoplasia (HP:0001498)	4.13000155
8	Abnormality of the fetal cardiovascular system (HP:0010948)	4.00471277
9	Abnormal umbilical cord blood vessels (HP:0011403)	4.00471277
10	Single umbilical artery (HP:0001195)	4.00471277
11	Fused cervical vertebrae (HP:0002949)	4.00218063
12	Abnormal pancreas size (HP:0012094)	3.81775220
13	Premature ovarian failure (HP:0008209)	3.77732564
14	Progressive muscle weakness (HP:0003323)	3.71983640
15	Abnormality of the aortic arch (HP:0012303)	3.63383732
16	Aplasia/hypoplasia of the uterus (HP:0008684)	3.49504345
17	Myopathic facies (HP:0002058)	3.48617125
18	Ureteral duplication (HP:0000073)	3.40758368
19	Ileus (HP:0002595)	3.38863921
20	Abnormality of cells of the erythroid lineage (HP:0012130)	3.35100295
21	Hypergonadotropic hypogonadism (HP:0000815)	3.32015631
22	Hyperglycemia (HP:0003074)	3.19801589
23	Hypercortisolism (HP:0001578)	3.13961594
24	Abnormal number of erythroid precursors (HP:0012131)	3.13066832
25	Reticulocytopenia (HP:0001896)	3.03800893
26	Multiple enchondromatosis (HP:0005701)	3.02600793
27	Short tibia (HP:0005736)	2.98193523
28	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.87547025
29	Abnormality of the septum pellucidum (HP:0007375)	2.85722225
30	Hypoglycemic seizures (HP:0002173)	2.84339212
31	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.80462283
32	Reduced antithrombin III activity (HP:0001976)	2.79927769
33	Dysphonia (HP:0001618)	2.78836111
34	Facial cleft (HP:0002006)	2.75840991
35	Stenosis of the external auditory canal (HP:0000402)	2.75735676
36	Ragged-red muscle fibers (HP:0003200)	2.74510458
37	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.73115627
38	Hypoplasia of the uterus (HP:0000013)	2.72845148
39	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.60851535
40	Hypoplasia of the fovea (HP:0007750)	2.60447419
41	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.60447419
42	Cleft eyelid (HP:0000625)	2.58702978
43	Osteomalacia (HP:0002749)	2.55337699
44	Breast hypoplasia (HP:0003187)	2.54434621
45	Microretrognathia (HP:0000308)	2.52100857
46	Absent radius (HP:0003974)	2.51436951
47	Increased serum lactate (HP:0002151)	2.47255046
48	Abnormality of abdominal situs (HP:0011620)	2.46484352
49	Abdominal situs inversus (HP:0003363)	2.46484352
50	Horseshoe kidney (HP:0000085)	2.43799495
51	Sensory axonal neuropathy (HP:0003390)	2.40112646
52	Aplasia involving forearm bones (HP:0009822)	2.38947256
53	Absent forearm bone (HP:0003953)	2.38947256
54	Abnormality of magnesium homeostasis (HP:0004921)	2.36150995
55	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.36061207
56	Supernumerary spleens (HP:0009799)	2.36034316
57	Abnormal ventriculo-arterial connection (HP:0011563)	2.34793041
58	Transposition of the great arteries (HP:0001669)	2.34793041
59	Abnormal connection of the cardiac segments (HP:0011545)	2.34793041
60	Preauricular pit (HP:0004467)	2.34703641
61	Periauricular skin pits (HP:0100277)	2.34703641
62	Abnormality of the umbilical cord (HP:0010881)	2.31623948
63	Cerebral hypomyelination (HP:0006808)	2.29983226
64	Rough bone trabeculation (HP:0100670)	2.29761826
65	Increased CSF lactate (HP:0002490)	2.21759952
66	Absent septum pellucidum (HP:0001331)	2.20668669
67	Truncus arteriosus (HP:0001660)	2.17155381
68	Absent thumb (HP:0009777)	2.14522000
69	Constricted visual fields (HP:0001133)	2.13315221
70	Dysautonomia (HP:0002459)	2.11952924
71	Hypoplasia of the radius (HP:0002984)	2.11119866
72	Infertility (HP:0000789)	2.10576010
73	Tinnitus (HP:0000360)	2.10342511
74	Symptomatic seizures (HP:0011145)	2.09617936
75	Trismus (HP:0000211)	2.09391622
76	Glycosuria (HP:0003076)	2.08108383
77	Abnormality of urine glucose concentration (HP:0011016)	2.08108383
78	Posterior subcapsular cataract (HP:0007787)	2.07450750
79	Limb dystonia (HP:0002451)	2.06811108
80	Midline defect of the nose (HP:0004122)	2.06606565
81	Glossoptosis (HP:0000162)	2.03977080
82	Anhidrosis (HP:0000970)	2.00879263
83	Tetany (HP:0001281)	1.98950068
84	Increased serum pyruvate (HP:0003542)	1.98281909
85	Abnormality of the fovea (HP:0000493)	1.96294153
86	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.93323843
87	Death in infancy (HP:0001522)	1.91822731
88	Hypoplasia of the pons (HP:0012110)	1.91148505
89	Impaired proprioception (HP:0010831)	1.90848672
90	Poor speech (HP:0002465)	1.90384115
91	Malnutrition (HP:0004395)	1.89624403
92	Impaired social interactions (HP:0000735)	1.87701682
93	Abnormal social behavior (HP:0012433)	1.87701682
94	Hyperinsulinemic hypoglycemia (HP:0000825)	1.86957404
95	Ependymoma (HP:0002888)	1.85875880
96	Renal Fanconi syndrome (HP:0001994)	1.85554095
97	Abnormality of alanine metabolism (HP:0010916)	1.85344964
98	Hyperalaninemia (HP:0003348)	1.85344964
99	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.85344964
100	Abnormality of the pons (HP:0007361)	1.84391750

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PBK	6.71008333
2	BUB1	5.46455600
3	SRPK1	4.29435358
4	TESK2	3.40721453
5	STK16	3.33066179
6	PDK2	3.04683453
7	LATS2	2.95875208
8	LMTK2	2.59505699
9	BMX	2.31652214
10	BRSK1	2.21384389
11	AURKA	2.08684071
12	CDK19	2.03648812
13	PLK1	1.90171917
14	BRSK2	1.75814612
15	STK4	1.74322158
16	PLK4	1.69439650
17	NME2	1.58536580
18	PLK3	1.58404384
19	TRIM28	1.52989165
20	AURKB	1.52680266
21	PAK6	1.50952009
22	TTK	1.39710552
23	PINK1	1.36956951
24	CHEK2	1.36663655
25	VRK2	1.31495542
26	NEK6	1.29225001
27	PHKG1	1.28552702
28	PHKG2	1.28552702
29	MARK3	1.22022459
30	STK10	1.16571295
31	STK39	1.16329171
32	CHEK1	1.16119658
33	DYRK3	1.15161400
34	NME1	1.14011423
35	PAK1	1.11825100
36	NEK2	1.11345031
37	ZAK	1.00969429
38	NUAK1	0.99337214
39	PKN1	0.97487792
40	EIF2AK3	0.93108972
41	PIM1	0.92192304
42	TAOK3	0.86820709
43	OXSR1	0.85968786
44	WNK4	0.85045903
45	PAK2	0.84634240
46	CDK7	0.82456970
47	EPHA4	0.81711126
48	CSNK2A1	0.81112427
49	MAP3K8	0.80759697
50	MELK	0.78624657
51	LRRK2	0.78119625
52	AKT2	0.70897595
53	PRKCI	0.70788741
54	TESK1	0.67307440
55	KDR	0.66559074
56	CSNK2A2	0.65338272
57	CDC7	0.65156903
58	EIF2AK1	0.61695838
59	CDK2	0.60650627
60	MAPK11	0.59155672
61	MST4	0.58972230
62	RPS6KA1	0.58284345
63	RAF1	0.56697301
64	ATR	0.55626038
65	CDK1	0.54614083
66	MAP3K5	0.54118302
67	CSNK1E	0.50316111
68	VRK1	0.48832920
69	STK3	0.46276703
70	GSK3A	0.44811803
71	FGR	0.44784864
72	CDK9	0.42942063
73	ILK	0.41655775
74	NEK1	0.39916470
75	CSNK1A1	0.38764439
76	PRKACB	0.36818277
77	ATM	0.36634623
78	MTOR	0.35678447
79	PRKG1	0.34373406
80	SMG1	0.34256923
81	PRKD1	0.33790985
82	ABL2	0.33708917
83	PIM2	0.33437092
84	KSR2	0.32020112
85	MAPK1	0.29793973
86	CDK12	0.27890997
87	PRKD2	0.27809438
88	CAMK4	0.27340184
89	GSK3B	0.27112961
90	PRKG2	0.22822273
91	MAP3K9	0.22623083
92	WNK3	0.20168730
93	NTRK3	0.19283286
94	TLK1	0.18998667
95	CAMK2G	0.18655910
96	ICK	0.18612386
97	ERBB4	0.18523263
98	MAPK14	0.18087232
99	MAPKAPK2	0.17377868
100	CDK4	0.16402261

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	5.43174630
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	5.20527879
3	Folate biosynthesis_Homo sapiens_hsa00790	4.40597560
4	Regulation of autophagy_Homo sapiens_hsa04140	4.27543108
5	RNA polymerase_Homo sapiens_hsa03020	4.00302688
6	Basal transcription factors_Homo sapiens_hsa03022	3.35307206
7	RNA transport_Homo sapiens_hsa03013	3.00133628
8	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.75542477
9	mRNA surveillance pathway_Homo sapiens_hsa03015	2.70973673
10	Spliceosome_Homo sapiens_hsa03040	2.49088039
11	DNA replication_Homo sapiens_hsa03030	2.09018451
12	Pyrimidine metabolism_Homo sapiens_hsa00240	2.06552891
13	Cell cycle_Homo sapiens_hsa04110	1.92550710
14	Proteasome_Homo sapiens_hsa03050	1.89967430
15	Mismatch repair_Homo sapiens_hsa03430	1.74793223
16	Base excision repair_Homo sapiens_hsa03410	1.74052673
17	Steroid biosynthesis_Homo sapiens_hsa00100	1.72007424
18	Huntingtons disease_Homo sapiens_hsa05016	1.70630188
19	RNA degradation_Homo sapiens_hsa03018	1.68043900
20	Homologous recombination_Homo sapiens_hsa03440	1.66557223
21	Parkinsons disease_Homo sapiens_hsa05012	1.60276578
22	p53 signaling pathway_Homo sapiens_hsa04115	1.53727191
23	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.47724826
24	Oocyte meiosis_Homo sapiens_hsa04114	1.45631771
25	Oxidative phosphorylation_Homo sapiens_hsa00190	1.37933139
26	Fanconi anemia pathway_Homo sapiens_hsa03460	1.30765093
27	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.29957689
28	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.18572144
29	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.17321286
30	Cardiac muscle contraction_Homo sapiens_hsa04260	1.15893986
31	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.14043212
32	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.10518544
33	Purine metabolism_Homo sapiens_hsa00230	1.08289890
34	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.06363269
35	Selenocompound metabolism_Homo sapiens_hsa00450	0.95721798
36	Fatty acid elongation_Homo sapiens_hsa00062	0.93752966
37	Taste transduction_Homo sapiens_hsa04742	0.84056860
38	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.80915939
39	Glutathione metabolism_Homo sapiens_hsa00480	0.80811887
40	Collecting duct acid secretion_Homo sapiens_hsa04966	0.80699585
41	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.80470082
42	Nucleotide excision repair_Homo sapiens_hsa03420	0.80244273
43	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.76021895
44	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.73460564
45	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.63407764
46	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.63003315
47	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.62829902
48	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.59279263
49	Non-homologous end-joining_Homo sapiens_hsa03450	0.58209457
50	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.57661681
51	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.56460854
52	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.56212155
53	Protein export_Homo sapiens_hsa03060	0.53107362
54	Sulfur relay system_Homo sapiens_hsa04122	0.51137224
55	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50197556
56	Wnt signaling pathway_Homo sapiens_hsa04310	0.48998175
57	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.47376252
58	Metabolic pathways_Homo sapiens_hsa01100	0.47075826
59	Viral carcinogenesis_Homo sapiens_hsa05203	0.46172991
60	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.45687538
61	Alzheimers disease_Homo sapiens_hsa05010	0.44855314
62	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.43867610
63	Arginine and proline metabolism_Homo sapiens_hsa00330	0.43445596
64	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.42755285
65	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.41726447
66	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.39883696
67	Mineral absorption_Homo sapiens_hsa04978	0.39629394
68	One carbon pool by folate_Homo sapiens_hsa00670	0.37551395
69	Hippo signaling pathway_Homo sapiens_hsa04390	0.36592021
70	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.36110557
71	Sulfur metabolism_Homo sapiens_hsa00920	0.35792483
72	MicroRNAs in cancer_Homo sapiens_hsa05206	0.31228039
73	Herpes simplex infection_Homo sapiens_hsa05168	0.30918947
74	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.30474098
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.24939886
76	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.21170434
77	Galactose metabolism_Homo sapiens_hsa00052	0.15853870
78	Vibrio cholerae infection_Homo sapiens_hsa05110	0.15235488
79	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.14440823
80	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.13802364
81	Tight junction_Homo sapiens_hsa04530	0.13587910
82	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.12800338
83	Apoptosis_Homo sapiens_hsa04210	0.12223557
84	Ether lipid metabolism_Homo sapiens_hsa00565	0.11798595
85	Pentose phosphate pathway_Homo sapiens_hsa00030	0.11023294
86	Olfactory transduction_Homo sapiens_hsa04740	0.09942878
87	Insulin secretion_Homo sapiens_hsa04911	0.09700513
88	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.08806481
89	AMPK signaling pathway_Homo sapiens_hsa04152	0.08477057
90	Phototransduction_Homo sapiens_hsa04744	0.07627219
91	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.07425585
92	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.07345025
93	Protein digestion and absorption_Homo sapiens_hsa04974	0.06760247
94	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.05926355
95	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.04717400
96	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.00936298
97	Shigellosis_Homo sapiens_hsa05131	-0.0210079
98	Endocytosis_Homo sapiens_hsa04144	-0.0188800
99	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	-0.0179371
100	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	-0.0138086

KHDC1L

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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