ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of somitogenesis (GO:0014807)	8.30160320
2	protein prenylation (GO:0018342)	7.41330179
3	prenylation (GO:0097354)	7.41330179
4	viral mRNA export from host cell nucleus (GO:0046784)	6.94447668
5	regulation of DNA damage checkpoint (GO:2000001)	5.94847572
6	DNA replication-dependent nucleosome organization (GO:0034723)	5.59637390
7	DNA replication-dependent nucleosome assembly (GO:0006335)	5.59637390
8	sulfation (GO:0051923)	5.39140602
9	mesenchymal cell differentiation involved in kidney development (GO:0072161)	5.01995588
10	mesenchymal cell differentiation involved in renal system development (GO:2001012)	5.01995588
11	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	4.96703347
12	positive regulation of RNA splicing (GO:0033120)	4.82499279
13	membrane protein ectodomain proteolysis (GO:0006509)	4.76355697
14	negative regulation of mRNA splicing, via spliceosome (GO:0048025)	4.73643404
15	regulation of retinoic acid receptor signaling pathway (GO:0048385)	4.62043713
16	lymphangiogenesis (GO:0001946)	4.58017325
17	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.34643156
18	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.34643156
19	NADH dehydrogenase complex assembly (GO:0010257)	4.34643156
20	pseudouridine synthesis (GO:0001522)	4.32107579
21	viral transcription (GO:0019083)	4.31178879
22	negative regulation of RNA splicing (GO:0033119)	4.22153280
23	peristalsis (GO:0030432)	4.20492859
24	negative regulation of mRNA processing (GO:0050686)	4.16259553
25	translational termination (GO:0006415)	3.95922583
26	replicative senescence (GO:0090399)	3.92816245
27	post-anal tail morphogenesis (GO:0036342)	3.86413695
28	regulation of mammary gland epithelial cell proliferation (GO:0033599)	3.81384854
29	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	3.77278087
30	DNA replication checkpoint (GO:0000076)	3.73796392
31	ribosome biogenesis (GO:0042254)	3.72547242
32	negative regulation of mRNA metabolic process (GO:1903312)	3.69221081
33	DNA integration (GO:0015074)	3.68345627
34	nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)	3.65892104
35	DNA strand elongation involved in DNA replication (GO:0006271)	3.52025204
36	DNA strand elongation (GO:0022616)	3.47181983
37	mesonephros development (GO:0001823)	3.45406106
38	IMP biosynthetic process (GO:0006188)	3.42783662
39	translational elongation (GO:0006414)	3.27846229
40	histone exchange (GO:0043486)	3.26729069
41	regulation of cell proliferation involved in kidney development (GO:1901722)	3.26228446
42	translational initiation (GO:0006413)	3.25761189
43	regulation of centrosome cycle (GO:0046605)	3.20720233
44	transcription elongation from RNA polymerase I promoter (GO:0006362)	3.20428794
45	response to pheromone (GO:0019236)	3.17198592
46	G-protein coupled receptor internalization (GO:0002031)	3.17189551
47	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.16443210
48	regulation of cell cycle checkpoint (GO:1901976)	3.14604704
49	positive regulation of keratinocyte differentiation (GO:0045618)	3.09691275
50	dermatan sulfate biosynthetic process (GO:0030208)	3.09600081
51	CENP-A containing nucleosome assembly (GO:0034080)	3.08496484
52	DNA replication initiation (GO:0006270)	3.06922370
53	rRNA modification (GO:0000154)	3.06843100
54	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.05061672
55	DNA unwinding involved in DNA replication (GO:0006268)	3.04592883
56	termination of RNA polymerase I transcription (GO:0006363)	3.01365458
57	positive regulation of endothelial cell differentiation (GO:0045603)	3.00219989
58	cellular protein complex disassembly (GO:0043624)	2.96765490
59	chromatin remodeling at centromere (GO:0031055)	2.93463855
60	protein complex biogenesis (GO:0070271)	2.93037743
61	cotranslational protein targeting to membrane (GO:0006613)	2.91773200
62	otic vesicle formation (GO:0030916)	2.89069514
63	telomere maintenance via semi-conservative replication (GO:0032201)	2.88900775
64	positive regulation of systemic arterial blood pressure (GO:0003084)	2.88714432
65	membrane protein proteolysis (GO:0033619)	2.88338664
66	telomere maintenance via telomere lengthening (GO:0010833)	2.88324779
67	phasic smooth muscle contraction (GO:0014821)	2.87989896
68	protein targeting to ER (GO:0045047)	2.86888890
69	dermatan sulfate metabolic process (GO:0030205)	2.85694206
70	mitochondrial respiratory chain complex assembly (GO:0033108)	2.85493316
71	response to oxygen radical (GO:0000305)	2.79362014
72	maturation of SSU-rRNA (GO:0030490)	2.79073804
73	trophoblast giant cell differentiation (GO:0060707)	2.78321579
74	regulation of urine volume (GO:0035809)	2.77992235
75	nuclear-transcribed mRNA catabolic process (GO:0000956)	2.77457380
76	transcription initiation from RNA polymerase I promoter (GO:0006361)	2.74126992
77	rRNA methylation (GO:0031167)	2.70994886
78	tRNA methylation (GO:0030488)	2.70198611
79	viral life cycle (GO:0019058)	2.69708395
80	protein complex disassembly (GO:0043241)	2.68289369
81	positive regulation of mRNA processing (GO:0050685)	2.67812721
82	negative regulation of B cell apoptotic process (GO:0002903)	2.67748360
83	rRNA processing (GO:0006364)	2.67706064
84	negative regulation of systemic arterial blood pressure (GO:0003085)	2.66869614
85	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.66345342
86	membrane protein intracellular domain proteolysis (GO:0031293)	2.66153005
87	negative regulation of DNA repair (GO:0045738)	2.65562783
88	telomere organization (GO:0032200)	2.65260590
89	positive regulation of odontogenesis (GO:0042482)	2.65001874
90	tRNA modification (GO:0006400)	2.64117500
91	transcription from RNA polymerase I promoter (GO:0006360)	2.62704620
92	mRNA catabolic process (GO:0006402)	2.60824055
93	rRNA metabolic process (GO:0016072)	2.60030051
94	protein localization to endoplasmic reticulum (GO:0070972)	2.59556474
95	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	2.58442942
96	pharyngeal system development (GO:0060037)	2.56515150
97	ribonucleoprotein complex biogenesis (GO:0022613)	2.56003269
98	IMP metabolic process (GO:0046040)	2.55962351
99	telomere maintenance (GO:0000723)	2.55777024
100	nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)	2.54619666

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	9.56179581
2	E2F7_22180533_ChIP-Seq_HELA_Human	6.12154725
3	STAT6_21828071_ChIP-Seq_BEAS2B_Human	5.58508298
4	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.57751870
5	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.42412982
6	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.24683830
7	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	3.08275751
8	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.99474586
9	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.84425258
10	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.60985278
11	* XRN2_22483619_ChIP-Seq_HELA_Human	2.59418617
12	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.52335225
13	VDR_21846776_ChIP-Seq_THP-1_Human	2.43802756
14	MYC_19030024_ChIP-ChIP_MESCs_Mouse	2.32780770
15	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.27030996
16	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.18088702
17	NELFA_20434984_ChIP-Seq_ESCs_Mouse	2.17655201
18	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.10420559
19	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.03313332
20	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	2.02474718
21	* TTF2_22483619_ChIP-Seq_HELA_Human	2.01527141
22	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.99367702
23	* DCP1A_22483619_ChIP-Seq_HELA_Human	1.98238066
24	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.94564761
25	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.94121276
26	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.90391780
27	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.78542846
28	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.74175844
29	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.66891479
30	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.63720796
31	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.63405680
32	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.63165057
33	* VDR_23849224_ChIP-Seq_CD4+_Human	1.61734180
34	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.55580909
35	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.52290083
36	* FOXP3_21729870_ChIP-Seq_TREG_Human	1.52240734
37	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.50940242
38	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.50510160
39	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.49630011
40	SMAD1_18555785_ChIP-Seq_MESCs_Mouse	1.47066063
41	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.45494407
42	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	1.37028875
43	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.34233662
44	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.34119432
45	KDM5A_27292631_Chip-Seq_BREAST_Human	1.32808378
46	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.31290478
47	ELK1_19687146_ChIP-ChIP_HELA_Human	1.31195760
48	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.30660899
49	IRF1_19129219_ChIP-ChIP_H3396_Human	1.27505460
50	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.26661936
51	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.24379123
52	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.18866872
53	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.16770170
54	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.13473853
55	GABP_19822575_ChIP-Seq_HepG2_Human	1.11473739
56	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.11244495
57	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.09863482
58	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.08870382
59	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.08684428
60	ERG_20887958_ChIP-Seq_HPC-7_Mouse	1.07770579
61	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.04990014
62	MYC_22102868_ChIP-Seq_BL_Human	1.04701393
63	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.04677278
64	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.03885801
65	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	1.03870213
66	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.03637608
67	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.02124940
68	CIITA_25753668_ChIP-Seq_RAJI_Human	1.01425568
69	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	1.00632432
70	* PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.00624466
71	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.98262416
72	GATA1_22025678_ChIP-Seq_K562_Human	0.98093011
73	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.96188465
74	NANOG_18555785_ChIP-Seq_MESCs_Mouse	0.95806655
75	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.94395919
76	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	0.92289176
77	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.91857265
78	VDR_24763502_ChIP-Seq_THP-1_Human	0.91613374
79	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.91504953
80	NANOG_21062744_ChIP-ChIP_HESCs_Human	0.91349310
81	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.89521809
82	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.87386181
83	RACK7_27058665_Chip-Seq_MCF-7_Human	0.86442501
84	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.86081268
85	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.85253878
86	ESR1_15608294_ChIP-ChIP_MCF-7_Human	0.84630099
87	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.83850835
88	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	0.82811220
89	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.82533812
90	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.81284891
91	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.80449826
92	* ATF3_27146783_Chip-Seq_COLON_Human	0.78788158
93	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.78691820
94	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	0.77533965
95	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.77445674
96	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.77439800
97	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.77415235
98	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.75458945
99	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	0.74153477
100	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.73400313

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003693_abnormal_embryo_hatching	5.47114533
2	MP0002163_abnormal_gland_morphology	4.72239468
3	MP0003183_abnormal_peptide_metabolism	4.70287221
4	MP0010094_abnormal_chromosome_stability	3.69472112
5	MP0010368_abnormal_lymphatic_system	3.51230829
6	MP0003111_abnormal_nucleus_morphology	3.42377432
7	MP0004957_abnormal_blastocyst_morpholog	3.17685381
8	MP0001879_abnormal_lymphatic_vessel	3.01901457
9	MP0003077_abnormal_cell_cycle	2.90315467
10	MP0002160_abnormal_reproductive_system	2.84351067
11	MP0000613_abnormal_salivary_gland	2.59281090
12	MP0002138_abnormal_hepatobiliary_system	2.54330217
13	MP0008057_abnormal_DNA_replication	2.37697103
14	MP0005379_endocrine/exocrine_gland_phen	2.27163237
15	MP0000678_abnormal_parathyroid_gland	2.22571955
16	MP0003567_abnormal_fetal_cardiomyocyte	2.22075584
17	MP0005171_absent_coat_pigmentation	2.04932775
18	MP0004264_abnormal_extraembryonic_tissu	1.94890649
19	MP0002089_abnormal_postnatal_growth/wei	1.90203133
20	MP0005409_darkened_coat_color	1.85388324
21	MP0010030_abnormal_orbit_morphology	1.83708507
22	MP0008058_abnormal_DNA_repair	1.74647376
23	MP0000350_abnormal_cell_proliferation	1.74460216
24	MP0005083_abnormal_biliary_tract	1.63546215
25	MP0002796_impaired_skin_barrier	1.63376449
26	MP0002009_preneoplasia	1.61299378
27	MP0000049_abnormal_middle_ear	1.55287102
28	MP0000750_abnormal_muscle_regeneration	1.54593046
29	MP0005220_abnormal_exocrine_pancreas	1.50157782
30	MP0005076_abnormal_cell_differentiation	1.49639759
31	MP0003941_abnormal_skin_development	1.49092865
32	MP0008932_abnormal_embryonic_tissue	1.48577328
33	MP0009384_cardiac_valve_regurgitation	1.40661489
34	MP0004272_abnormal_basement_membrane	1.40349393
35	MP0000358_abnormal_cell_content/	1.39450788
36	MP0009278_abnormal_bone_marrow	1.32021538
37	MP0005389_reproductive_system_phenotype	1.25865709
38	MP0002396_abnormal_hematopoietic_system	1.16639549
39	MP0001293_anophthalmia	1.15855771
40	MP0002111_abnormal_tail_morphology	1.14757551
41	MP0001730_embryonic_growth_arrest	1.12335908
42	MP0002080_prenatal_lethality	1.09379858
43	MP0003279_aneurysm	1.05538402
44	MP0002932_abnormal_joint_morphology	1.05417929
45	MP0002086_abnormal_extraembryonic_tissu	1.02014469
46	MP0001697_abnormal_embryo_size	1.00650083
47	MP0000733_abnormal_muscle_development	1.00492420
48	MP0002127_abnormal_cardiovascular_syste	0.99983063
49	MP0005501_abnormal_skin_physiology	0.99471166
50	MP0006035_abnormal_mitochondrial_morpho	0.97806035
51	MP0004147_increased_porphyrin_level	0.96712780
52	MP0001145_abnormal_male_reproductive	0.94326371
53	MP0005385_cardiovascular_system_phenoty	0.93224233
54	MP0001544_abnormal_cardiovascular_syste	0.93224233
55	MP0002085_abnormal_embryonic_tissue	0.92167116
56	MP0001672_abnormal_embryogenesis/_devel	0.91751174
57	MP0005380_embryogenesis_phenotype	0.91751174
58	MP0002877_abnormal_melanocyte_morpholog	0.90713021
59	MP0001270_distended_abdomen	0.89445674
60	MP0000762_abnormal_tongue_morphology	0.88070671
61	MP0000371_diluted_coat_color	0.87762704
62	MP0009697_abnormal_copulation	0.87716401
63	MP0000537_abnormal_urethra_morphology	0.87665505
64	MP0003935_abnormal_craniofacial_develop	0.87637892
65	MP0003984_embryonic_growth_retardation	0.87582036
66	MP0009250_abnormal_appendicular_skeleto	0.86562638
67	MP0000163_abnormal_cartilage_morphology	0.85125026
68	MP0003959_abnormal_lean_body	0.85056148
69	MP0004233_abnormal_muscle_weight	0.84398136
70	MP0002088_abnormal_embryonic_growth/wei	0.83081036
71	MP0009379_abnormal_foot_pigmentation	0.82465321
72	MP0004197_abnormal_fetal_growth/weight/	0.81750057
73	MP0005423_abnormal_somatic_nervous	0.79120794
74	MP0006138_congestive_heart_failure	0.78985311
75	MP0000653_abnormal_sex_gland	0.78639044
76	MP0002822_catalepsy	0.78160074
77	MP0002210_abnormal_sex_determination	0.77534972
78	MP0002254_reproductive_system_inflammat	0.72768463
79	MP0003191_abnormal_cellular_cholesterol	0.72726548
80	MP0008770_decreased_survivor_rate	0.72656041
81	MP0004185_abnormal_adipocyte_glucose	0.72400687
82	MP0000467_abnormal_esophagus_morphology	0.71959377
83	MP0000313_abnormal_cell_death	0.71526853
84	MP0001119_abnormal_female_reproductive	0.71221625
85	MP0003942_abnormal_urinary_system	0.69720787
86	MP0002084_abnormal_developmental_patter	0.69548316
87	MP0008007_abnormal_cellular_replicative	0.68045940
88	MP0002075_abnormal_coat/hair_pigmentati	0.67317134
89	MP0000767_abnormal_smooth_muscle	0.66634266
90	MP0002116_abnormal_craniofacial_bone	0.65170339
91	MP0002249_abnormal_larynx_morphology	0.63636068
92	MP0005330_cardiomyopathy	0.61417023
93	MP0000428_abnormal_craniofacial_morphol	0.60147443
94	MP0000383_abnormal_hair_follicle	0.59618523
95	MP0002177_abnormal_outer_ear	0.59079397
96	MP0003221_abnormal_cardiomyocyte_apopto	0.58576365
97	MP0001929_abnormal_gametogenesis	0.58059814
98	MP0003828_pulmonary_edema	0.57535479
99	MP0004381_abnormal_hair_follicle	0.55739629
100	MP0008260_abnormal_autophagy	0.55491724

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Anomalous pulmonary venous return (HP:0010772)	5.93916387
2	Abnormality of the lumbar spine (HP:0100712)	5.79024624
3	Thoracic kyphosis (HP:0002942)	5.62007513
4	Oral leukoplakia (HP:0002745)	5.44447986
5	Broad ribs (HP:0000885)	5.14177100
6	Abnormality of the pulmonary veins (HP:0011718)	5.12671534
7	Rough bone trabeculation (HP:0100670)	4.86084836
8	Asymmetry of the thorax (HP:0001555)	4.85077876
9	Fibular aplasia (HP:0002990)	4.69112166
10	J-shaped sella turcica (HP:0002680)	4.64945375
11	Carpal bone hypoplasia (HP:0001498)	4.62481737
12	Diastasis recti (HP:0001540)	4.53432378
13	Aortic regurgitation (HP:0001659)	4.49009366
14	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	4.44000061
15	Abnormality of the thoracic spine (HP:0100711)	4.37777397
16	Vertebral arch anomaly (HP:0008438)	4.21148802
17	Abnormal trabecular bone morphology (HP:0100671)	3.85331870
18	Abnormality of the odontoid process (HP:0003310)	3.85187816
19	Flat acetabular roof (HP:0003180)	3.60519093
20	Slow saccadic eye movements (HP:0000514)	3.59148698
21	Tongue fasciculations (HP:0001308)	3.58954856
22	Squamous cell carcinoma (HP:0002860)	3.42768622
23	Thoracolumbar scoliosis (HP:0002944)	3.40528651
24	Muscle fibrillation (HP:0010546)	3.34716985
25	Hepatocellular necrosis (HP:0001404)	3.13510413
26	Partial agenesis of the corpus callosum (HP:0001338)	3.06949842
27	Deformed sella turcica (HP:0002681)	2.96601912
28	Anal stenosis (HP:0002025)	2.95804641
29	Abnormality of the preputium (HP:0100587)	2.84819594
30	Wide intermamillary distance (HP:0006610)	2.83645286
31	Impaired smooth pursuit (HP:0007772)	2.83525052
32	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.81986713
33	Premature graying of hair (HP:0002216)	2.79222578
34	Natal tooth (HP:0000695)	2.75005342
35	Thickened calvaria (HP:0002684)	2.70074997
36	Thrombocytosis (HP:0001894)	2.61229141
37	Abnormal number of erythroid precursors (HP:0012131)	2.58043509
38	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.52889667
39	Hepatic necrosis (HP:0002605)	2.49329760
40	Spontaneous abortion (HP:0005268)	2.48376526
41	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.46461142
42	Bifid uvula (HP:0000193)	2.45553440
43	Myelomeningocele (HP:0002475)	2.41821833
44	Urethral obstruction (HP:0000796)	2.39542897
45	Chromsome breakage (HP:0040012)	2.39274366
46	Birth length less than 3rd percentile (HP:0003561)	2.38732493
47	Abnormality of glycolipid metabolism (HP:0010969)	2.37795030
48	Abnormality of liposaccharide metabolism (HP:0010968)	2.37795030
49	Abnormality of glycosphingolipid metabolism (HP:0004343)	2.37795030
50	Genetic anticipation (HP:0003743)	2.37483841
51	Prominent occiput (HP:0000269)	2.35945294
52	Microtia (HP:0008551)	2.33338805
53	Progressive muscle weakness (HP:0003323)	2.28872347
54	Lymphangioma (HP:0100764)	2.26468894
55	Broad alveolar ridges (HP:0000187)	2.24767016
56	Abnormality of ocular smooth pursuit (HP:0000617)	2.23565571
57	Flared iliac wings (HP:0002869)	2.22658143
58	Abnormality of chromosome stability (HP:0003220)	2.22014748
59	Abnormality of the sella turcica (HP:0002679)	2.20988230
60	Bone marrow hypocellularity (HP:0005528)	2.19016677
61	Ectopic kidney (HP:0000086)	2.17533496
62	Abnormality of the intervertebral disk (HP:0005108)	2.17426230
63	Abnormality of methionine metabolism (HP:0010901)	2.16601705
64	Meckel diverticulum (HP:0002245)	2.15569777
65	Woolly hair (HP:0002224)	2.14843731
66	Testicular atrophy (HP:0000029)	2.14430894
67	Beaking of vertebral bodies (HP:0004568)	2.13172215
68	Cavernous hemangioma (HP:0001048)	2.13164821
69	Vertebral fusion (HP:0002948)	2.08134614
70	Hemivertebrae (HP:0002937)	2.02484372
71	Abnormality of cells of the erythroid lineage (HP:0012130)	2.01814828
72	Renal cortical cysts (HP:0000803)	1.99186074
73	Abnormality of the ileum (HP:0001549)	1.98845309
74	Nasal speech (HP:0001611)	1.98181639
75	Rectal prolapse (HP:0002035)	1.95879544
76	Subcapsular cataract (HP:0000523)	1.94762422
77	Spina bifida occulta (HP:0003298)	1.94092783
78	Tinnitus (HP:0000360)	1.93800536
79	Nonimmune hydrops fetalis (HP:0001790)	1.89404361
80	Subacute progressive viral hepatitis (HP:0006572)	1.87442376
81	Arteriovenous malformation (HP:0100026)	1.85587199
82	Tracheomalacia (HP:0002779)	1.84935895
83	Small hand (HP:0200055)	1.84333761
84	Overfolded helix (HP:0000396)	1.82498184
85	Fibular hypoplasia (HP:0003038)	1.81004294
86	Cellular immunodeficiency (HP:0005374)	1.80101869
87	Short thumb (HP:0009778)	1.75003665
88	Spontaneous hematomas (HP:0007420)	1.72641388
89	Curly hair (HP:0002212)	1.72531887
90	Mucopolysacchariduria (HP:0008155)	1.71529166
91	Urinary glycosaminoglycan excretion (HP:0003541)	1.71529166
92	Visual hallucinations (HP:0002367)	1.71003435
93	Azoospermia (HP:0000027)	1.69371224
94	Abnormally folded helix (HP:0008544)	1.68575278
95	Horseshoe kidney (HP:0000085)	1.66458056
96	Absent thumb (HP:0009777)	1.66342504
97	Advanced eruption of teeth (HP:0006288)	1.66224187
98	Reduced antithrombin III activity (HP:0001976)	1.64532144
99	Abnormality of small intestinal villus morphology (HP:0011472)	1.60700707
100	Villous atrophy (HP:0011473)	1.60700707

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TLK1	5.83435032
2	ZAK	5.71397463
3	TIE1	4.72836180
4	BLK	4.56782061
5	INSRR	2.53424573
6	VRK1	2.52867631
7	VRK2	2.42947375
8	BUB1	2.22090927
9	EPHA2	1.99257221
10	MAP2K3	1.97936793
11	CDC7	1.96446141
12	NME2	1.85131506
13	CDK8	1.81629376
14	RPS6KA5	1.72672727
15	BMPR1B	1.70413945
16	AURKA	1.61123991
17	STK16	1.56090144
18	MAP3K3	1.47681323
19	STK4	1.47371440
20	KDR	1.38139476
21	CLK1	1.27827515
22	CAMK4	1.26360823
23	TRIB3	1.26223685
24	SMG1	1.24203018
25	AURKB	1.20812925
26	PIM2	1.20672665
27	DAPK3	1.10794996
28	GRK1	1.09032135
29	CHEK2	1.08426491
30	ATR	1.06258809
31	PDK2	1.04777423
32	BRSK1	1.02425821
33	CDK7	1.00126277
34	TEC	0.96876990
35	DYRK3	0.96794109
36	TESK2	0.95524314
37	TAF1	0.93288868
38	IRAK2	0.91568861
39	PIM1	0.91290191
40	TSSK6	0.89115767
41	CDK12	0.87761357
42	IRAK3	0.87180924
43	BCKDK	0.86378434
44	TTK	0.83418571
45	GRK5	0.82087440
46	MAP3K8	0.81766343
47	IRAK4	0.81388838
48	BRSK2	0.80949916
49	MAP3K2	0.80572355
50	MST1R	0.78785662
51	RPS6KB2	0.78587892
52	GRK7	0.72067836
53	PLK1	0.71555122
54	RPS6KA4	0.71214698
55	PTK2	0.70528286
56	CDK9	0.68604232
57	TGFBR2	0.67719708
58	EEF2K	0.63462969
59	MELK	0.62952092
60	CAMK1D	0.61694023
61	HIPK2	0.61147387
62	PBK	0.60540273
63	NME1	0.60201512
64	GRK6	0.57695878
65	MAP3K9	0.57506176
66	IKBKB	0.53941372
67	AKT2	0.53111862
68	SRPK1	0.52102237
69	NEK1	0.51376730
70	SIK1	0.51292883
71	CDK4	0.51118081
72	CHEK1	0.50907761
73	MAPK7	0.49240351
74	FGFR1	0.46438692
75	MTOR	0.45416300
76	MET	0.44284800
77	MAPK11	0.44016980
78	ERN1	0.43341699
79	SCYL2	0.43318529
80	PLK4	0.42888555
81	DAPK1	0.42042261
82	ITK	0.40594205
83	CDK3	0.40572120
84	EIF2AK2	0.40353255
85	RPS6KA6	0.39853251
86	SGK2	0.38684385
87	STK10	0.38448634
88	WEE1	0.37870980
89	TGFBR1	0.33887277
90	NUAK1	0.32258713
91	RIPK1	0.30544724
92	ABL2	0.30382052
93	RPS6KC1	0.29544691
94	RPS6KL1	0.29544691
95	SGK223	0.29402436
96	SGK494	0.29402436
97	CDK2	0.28264817
98	FLT3	0.28162585
99	CHUK	0.21895418
100	AKT1	0.21558795

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	5.02447638
2	Systemic lupus erythematosus_Homo sapiens_hsa05322	4.83092595
3	DNA replication_Homo sapiens_hsa03030	4.11357008
4	Selenocompound metabolism_Homo sapiens_hsa00450	4.02463753
5	Homologous recombination_Homo sapiens_hsa03440	3.70976156
6	Ribosome_Homo sapiens_hsa03010	3.45475416
7	Alcoholism_Homo sapiens_hsa05034	3.36736996
8	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.95259755
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.69987954
10	Mismatch repair_Homo sapiens_hsa03430	2.62419656
11	Spliceosome_Homo sapiens_hsa03040	2.31911705
12	Base excision repair_Homo sapiens_hsa03410	2.21602261
13	Pyrimidine metabolism_Homo sapiens_hsa00240	2.09848397
14	Viral carcinogenesis_Homo sapiens_hsa05203	1.90948120
15	RNA transport_Homo sapiens_hsa03013	1.78045148
16	RNA polymerase_Homo sapiens_hsa03020	1.73429000
17	Cell cycle_Homo sapiens_hsa04110	1.65733893
18	Sulfur relay system_Homo sapiens_hsa04122	1.58159447
19	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.49491974
20	Nucleotide excision repair_Homo sapiens_hsa03420	1.48405322
21	Proteasome_Homo sapiens_hsa03050	1.47366211
22	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.41073177
23	One carbon pool by folate_Homo sapiens_hsa00670	1.39901491
24	Bladder cancer_Homo sapiens_hsa05219	1.12829014
25	Non-homologous end-joining_Homo sapiens_hsa03450	1.11328606
26	Huntingtons disease_Homo sapiens_hsa05016	1.10075358
27	p53 signaling pathway_Homo sapiens_hsa04115	1.07875187
28	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.05118573
29	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	1.02648136
30	Basal transcription factors_Homo sapiens_hsa03022	1.01188110
31	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.95957765
32	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.91668842
33	Parkinsons disease_Homo sapiens_hsa05012	0.89002016
34	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.88780242
35	Purine metabolism_Homo sapiens_hsa00230	0.86890710
36	RNA degradation_Homo sapiens_hsa03018	0.86020200
37	Pyruvate metabolism_Homo sapiens_hsa00620	0.82876842
38	Melanoma_Homo sapiens_hsa05218	0.81876691
39	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.81350128
40	Basal cell carcinoma_Homo sapiens_hsa05217	0.80535873
41	Small cell lung cancer_Homo sapiens_hsa05222	0.79865431
42	HTLV-I infection_Homo sapiens_hsa05166	0.79669971
43	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.73826439
44	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.73328487
45	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.72765873
46	Lysine degradation_Homo sapiens_hsa00310	0.71242505
47	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.70348164
48	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.68110566
49	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.66355738
50	mRNA surveillance pathway_Homo sapiens_hsa03015	0.66346157
51	Oocyte meiosis_Homo sapiens_hsa04114	0.64209238
52	MicroRNAs in cancer_Homo sapiens_hsa05206	0.63402857
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.60219937
54	Prostate cancer_Homo sapiens_hsa05215	0.59687105
55	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.59547207
56	Taste transduction_Homo sapiens_hsa04742	0.59334328
57	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.58002359
58	Oxidative phosphorylation_Homo sapiens_hsa00190	0.55433647
59	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.53490566
60	Alzheimers disease_Homo sapiens_hsa05010	0.52989913
61	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.52568099
62	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.48324234
63	Hippo signaling pathway_Homo sapiens_hsa04390	0.47912470
64	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.47549095
65	Caffeine metabolism_Homo sapiens_hsa00232	0.47368493
66	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.47309934
67	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.46938865
68	Apoptosis_Homo sapiens_hsa04210	0.46802492
69	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.42464626
70	Gap junction_Homo sapiens_hsa04540	0.40774491
71	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.40113926
72	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.38734632
73	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.37630396
74	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.35216241
75	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.34887023
76	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.33140462
77	Renin-angiotensin system_Homo sapiens_hsa04614	0.32516394
78	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31753722
79	Non-small cell lung cancer_Homo sapiens_hsa05223	0.28295961
80	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.27044786
81	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.25663744
82	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.25524116
83	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.23091071
84	Pathways in cancer_Homo sapiens_hsa05200	0.22366350
85	Galactose metabolism_Homo sapiens_hsa00052	0.21633190
86	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.21102369
87	ABC transporters_Homo sapiens_hsa02010	0.20129664
88	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.18969492
89	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.18534421
90	Metabolic pathways_Homo sapiens_hsa01100	0.17191677
91	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.16532687
92	Melanogenesis_Homo sapiens_hsa04916	0.15450143
93	Influenza A_Homo sapiens_hsa05164	0.15262117
94	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.13980129
95	Wnt signaling pathway_Homo sapiens_hsa04310	0.13241053
96	Thyroid cancer_Homo sapiens_hsa05216	0.12410405
97	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.11894411
98	TNF signaling pathway_Homo sapiens_hsa04668	0.11074324
99	mTOR signaling pathway_Homo sapiens_hsa04150	0.10901792
100	Acute myeloid leukemia_Homo sapiens_hsa05221	0.10420249

C19ORF48

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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