ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein localization to endosome (GO:0036010)	7.82262719
2	synapsis (GO:0007129)	7.70775084
3	male meiosis I (GO:0007141)	7.08500846
4	chromosome organization involved in meiosis (GO:0070192)	6.78641350
5	synaptonemal complex assembly (GO:0007130)	6.25588973
6	synaptonemal complex organization (GO:0070193)	5.83932376
7	regulation of cilium movement (GO:0003352)	5.71928916
8	piRNA metabolic process (GO:0034587)	5.71334201
9	establishment of nucleus localization (GO:0040023)	5.56991774
10	meiosis I (GO:0007127)	5.56761683
11	DNA synthesis involved in DNA repair (GO:0000731)	5.50176274
12	cerebral cortex radially oriented cell migration (GO:0021799)	5.39642239
13	negative regulation of response to food (GO:0032096)	5.35962438
14	negative regulation of appetite (GO:0032099)	5.35962438
15	sister chromatid cohesion (GO:0007062)	5.35268016
16	histone H3-K36 demethylation (GO:0070544)	5.33841039
17	cellular response to nerve growth factor stimulus (GO:1990090)	5.25297365
18	response to nerve growth factor (GO:1990089)	5.25297365
19	meiotic chromosome segregation (GO:0045132)	5.22875014
20	resolution of meiotic recombination intermediates (GO:0000712)	5.13561388
21	DNA methylation involved in gamete generation (GO:0043046)	5.11940738
22	male meiosis (GO:0007140)	4.97821069
23	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	4.70499114
24	oxidative phosphorylation (GO:0006119)	4.65551434
25	behavioral response to nicotine (GO:0035095)	4.61749194
26	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	4.55631208
27	meiotic nuclear division (GO:0007126)	4.51679316
28	regulation of heat generation (GO:0031650)	4.44383472
29	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	4.38006653
30	regulation of NFAT protein import into nucleus (GO:0051532)	4.34034329
31	nucleoside diphosphate catabolic process (GO:0009134)	4.31903069
32	intracellular lipid transport (GO:0032365)	4.23640414
33	meiotic cell cycle process (GO:1903046)	4.07919463
34	peripheral nervous system axon ensheathment (GO:0032292)	4.03321929
35	myelination in peripheral nervous system (GO:0022011)	4.03321929
36	DNA-dependent DNA replication (GO:0006261)	3.97933737
37	ovulation cycle (GO:0042698)	3.95784157
38	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.91890020
39	substrate-independent telencephalic tangential migration (GO:0021826)	3.91890020
40	gene silencing by RNA (GO:0031047)	3.90942351
41	regulation of DNA endoreduplication (GO:0032875)	3.89517376
42	regulation of microtubule-based movement (GO:0060632)	3.84447962
43	regulation of actin nucleation (GO:0051125)	3.83134950
44	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.80981733
45	sex differentiation (GO:0007548)	3.78143636
46	regulation of response to food (GO:0032095)	3.73589695
47	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	3.72488560
48	positive regulation of cardiac muscle cell differentiation (GO:2000727)	3.70165499
49	cellular response to leptin stimulus (GO:0044320)	3.64624982
50	pericardium development (GO:0060039)	3.62937083
51	replication fork processing (GO:0031297)	3.62030598
52	negative regulation of multicellular organism growth (GO:0040015)	3.50820984
53	nucleus localization (GO:0051647)	3.46314852
54	Rac protein signal transduction (GO:0016601)	3.42572635
55	reciprocal DNA recombination (GO:0035825)	3.33010706
56	reciprocal meiotic recombination (GO:0007131)	3.33010706
57	C4-dicarboxylate transport (GO:0015740)	3.28305984
58	blastocyst development (GO:0001824)	3.27079899
59	preassembly of GPI anchor in ER membrane (GO:0016254)	3.26494620
60	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	3.25898442
61	otic vesicle formation (GO:0030916)	3.13264998
62	regulation of appetite (GO:0032098)	3.08702920
63	nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)	3.03886410
64	keratinocyte development (GO:0003334)	3.03647630
65	negative regulation of response to nutrient levels (GO:0032108)	3.03026303
66	negative regulation of response to extracellular stimulus (GO:0032105)	3.03026303
67	intraciliary transport (GO:0042073)	3.00700374
68	lateral ventricle development (GO:0021670)	2.96549420
69	striatum development (GO:0021756)	2.93929252
70	nonmotile primary cilium assembly (GO:0035058)	2.93508879
71	axoneme assembly (GO:0035082)	2.86965365
72	acrosome assembly (GO:0001675)	2.86836880
73	DNA methylation (GO:0006306)	2.86487539
74	DNA alkylation (GO:0006305)	2.86487539
75	head development (GO:0060322)	2.84005065
76	regulation of meiosis I (GO:0060631)	2.83646837
77	regulation of potassium ion transmembrane transporter activity (GO:1901016)	2.82582641
78	mitotic sister chromatid segregation (GO:0000070)	2.81240006
79	response to leptin (GO:0044321)	2.81193820
80	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.80532527
81	respiratory chain complex IV assembly (GO:0008535)	2.79600350
82	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.78959938
83	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.78551409
84	cerebral cortex cell migration (GO:0021795)	2.78144403
85	water-soluble vitamin biosynthetic process (GO:0042364)	2.76240070
86	receptor recycling (GO:0001881)	2.76143058
87	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.75887091
88	astrocyte development (GO:0014002)	2.75831648
89	brain morphogenesis (GO:0048854)	2.75505363
90	regulation of transcription from RNA polymerase III promoter (GO:0006359)	2.74873528
91	embryonic body morphogenesis (GO:0010172)	2.74587057
92	microtubule depolymerization (GO:0007019)	2.74403914
93	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.72955351
94	positive regulation of potassium ion transport (GO:0043268)	2.72562981
95	sister chromatid segregation (GO:0000819)	2.72414889
96	negative regulation of organelle assembly (GO:1902116)	2.70825558
97	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.69799825
98	fear response (GO:0042596)	2.69613501
99	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.66982062
100	glyoxylate metabolic process (GO:0046487)	2.63047097

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.74229965
2	RBPJ_22232070_ChIP-Seq_NCS_Mouse	4.37084898
3	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.34656776
4	GBX2_23144817_ChIP-Seq_PC3_Human	3.13266327
5	E2F7_22180533_ChIP-Seq_HELA_Human	3.10600031
6	VDR_22108803_ChIP-Seq_LS180_Human	2.89359251
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.86035206
8	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.80508790
9	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.56747842
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.52363830
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.52127747
12	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.50850506
13	EWS_26573619_Chip-Seq_HEK293_Human	2.32167565
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.26249472
15	ER_23166858_ChIP-Seq_MCF-7_Human	2.20654517
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.09427006
17	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.08581449
18	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.07905126
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.06606578
20	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.04798455
21	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.99156098
22	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.94444907
23	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.89730995
24	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.81216214
25	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.70869143
26	FUS_26573619_Chip-Seq_HEK293_Human	1.69915231
27	IRF1_19129219_ChIP-ChIP_H3396_Human	1.62727472
28	MYC_18940864_ChIP-ChIP_HL60_Human	1.58233026
29	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.56480547
30	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.49689029
31	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.48948146
32	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.48106892
33	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.47029421
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.46565271
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.46565271
36	P300_19829295_ChIP-Seq_ESCs_Human	1.46529046
37	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.45096456
38	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.43137369
39	BCAT_22108803_ChIP-Seq_LS180_Human	1.42025699
40	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.41202739
41	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.38858882
42	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.38137179
43	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.37860558
44	TP53_22573176_ChIP-Seq_HFKS_Human	1.36828838
45	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.36770439
46	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.35957142
47	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.35295043
48	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.33513700
49	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.33220625
50	STAT3_23295773_ChIP-Seq_U87_Human	1.29819156
51	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.29053471
52	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.25905195
53	TCF4_23295773_ChIP-Seq_U87_Human	1.25101128
54	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.23565441
55	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.21938578
56	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.21854788
57	AR_25329375_ChIP-Seq_VCAP_Human	1.21338235
58	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.20605841
59	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20180449
60	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.19789336
61	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.19195949
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.17588774
63	SMAD4_21799915_ChIP-Seq_A2780_Human	1.17563271
64	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.17114808
65	NANOG_19829295_ChIP-Seq_ESCs_Human	1.16610824
66	SOX2_19829295_ChIP-Seq_ESCs_Human	1.16610824
67	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.15392560
68	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.14674665
69	ETV1_20927104_ChIP-Seq_GIST48_Human	1.14408413
70	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.13198192
71	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.11455908
72	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08754775
73	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.07865946
74	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.07497177
75	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.07448168
76	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.06652573
77	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.04642881
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.04496239
79	MYC_19829295_ChIP-Seq_ESCs_Human	1.03964278
80	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.01693202
81	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.01640806
82	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.00857664
83	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.00504971
84	RNF2_27304074_Chip-Seq_NSC_Mouse	0.99994153
85	TCF4_22108803_ChIP-Seq_LS180_Human	0.99788668
86	FOXM1_23109430_ChIP-Seq_U2OS_Human	0.99313864
87	IGF1R_20145208_ChIP-Seq_DFB_Human	0.98858512
88	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.97468253
89	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.97248034
90	RUNX2_22187159_ChIP-Seq_PCA_Human	0.97142098
91	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.96572104
92	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95797550
93	TP53_16413492_ChIP-PET_HCT116_Human	0.95410997
94	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.94337881
95	REST_21632747_ChIP-Seq_MESCs_Mouse	0.93808046
96	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.92511494
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.91692261
98	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.91401587
99	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.90827003
100	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.90690018

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.54447975
2	MP0000427_abnormal_hair_cycle	3.46639996
3	MP0004043_abnormal_pH_regulation	3.20256164
4	MP0006292_abnormal_olfactory_placode	2.97594153
5	MP0008260_abnormal_autophagy	2.47945291
6	MP0000383_abnormal_hair_follicle	2.44519175
7	MP0001293_anophthalmia	2.40816035
8	MP0008058_abnormal_DNA_repair	2.30900877
9	MP0002233_abnormal_nose_morphology	2.20090058
10	MP0005451_abnormal_body_composition	2.19752221
11	MP0002249_abnormal_larynx_morphology	2.19613676
12	MP0002160_abnormal_reproductive_system	2.12517481
13	MP0003646_muscle_fatigue	2.06606654
14	MP0002210_abnormal_sex_determination	2.05627461
15	MP0000631_abnormal_neuroendocrine_gland	2.00517679
16	MP0001984_abnormal_olfaction	1.97196520
17	MP0003880_abnormal_central_pattern	1.94041555
18	MP0002234_abnormal_pharynx_morphology	1.92806468
19	MP0005423_abnormal_somatic_nervous	1.90014599
20	MP0000569_abnormal_digit_pigmentation	1.90000306
21	MP0010030_abnormal_orbit_morphology	1.86443816
22	MP0000049_abnormal_middle_ear	1.86365489
23	MP0001986_abnormal_taste_sensitivity	1.84671729
24	MP0006035_abnormal_mitochondrial_morpho	1.79347372
25	MP0001929_abnormal_gametogenesis	1.70604998
26	MP0000778_abnormal_nervous_system	1.69212527
27	MP0002736_abnormal_nociception_after	1.66267732
28	MP0003567_abnormal_fetal_cardiomyocyte	1.63798650
29	MP0001145_abnormal_male_reproductive	1.63419462
30	MP0001968_abnormal_touch/_nociception	1.59738528
31	MP0004885_abnormal_endolymph	1.59668417
32	MP0009053_abnormal_anal_canal	1.57418197
33	MP0003937_abnormal_limbs/digits/tail_de	1.56686673
34	MP0002272_abnormal_nervous_system	1.53842655
35	MP0003698_abnormal_male_reproductive	1.49779988
36	MP0001485_abnormal_pinna_reflex	1.43252432
37	MP0000653_abnormal_sex_gland	1.42706912
38	MP0008995_early_reproductive_senescence	1.38253853
39	MP0003119_abnormal_digestive_system	1.36854164
40	MP0000537_abnormal_urethra_morphology	1.33484110
41	MP0000647_abnormal_sebaceous_gland	1.33412113
42	MP0002653_abnormal_ependyma_morphology	1.33146191
43	MP0008875_abnormal_xenobiotic_pharmacok	1.31217149
44	MP0002734_abnormal_mechanical_nocicepti	1.31034119
45	MP0004742_abnormal_vestibular_system	1.28958266
46	MP0010678_abnormal_skin_adnexa	1.27902314
47	MP0002184_abnormal_innervation	1.26858322
48	MP0003942_abnormal_urinary_system	1.26461643
49	MP0005389_reproductive_system_phenotype	1.22720138
50	MP0000428_abnormal_craniofacial_morphol	1.21684844
51	MP0009745_abnormal_behavioral_response	1.21562764
52	MP0008789_abnormal_olfactory_epithelium	1.20503137
53	MP0001299_abnormal_eye_distance/	1.19964194
54	MP0004782_abnormal_surfactant_physiolog	1.17809640
55	MP0002697_abnormal_eye_size	1.17273757
56	MP0009250_abnormal_appendicular_skeleto	1.15055663
57	MP0003195_calcinosis	1.14150555
58	MP0002109_abnormal_limb_morphology	1.13578168
59	MP0003123_paternal_imprinting	1.13160462
60	MP0010094_abnormal_chromosome_stability	1.09852913
61	MP0003755_abnormal_palate_morphology	1.09168613
62	MP0005174_abnormal_tail_pigmentation	1.09147231
63	MP0003890_abnormal_embryonic-extraembry	1.07113250
64	MP0001286_abnormal_eye_development	1.07098573
65	MP0002095_abnormal_skin_pigmentation	1.07027698
66	MP0000613_abnormal_salivary_gland	1.05366595
67	MP0003935_abnormal_craniofacial_develop	1.04068306
68	MP0001119_abnormal_female_reproductive	1.03348894
69	MP0001970_abnormal_pain_threshold	1.01761510
70	MP0001177_atelectasis	0.99560244
71	MP0002098_abnormal_vibrissa_morphology	0.99284746
72	MP0003938_abnormal_ear_development	0.98493567
73	MP0002733_abnormal_thermal_nociception	0.96333970
74	MP0002932_abnormal_joint_morphology	0.94113033
75	MP0005408_hypopigmentation	0.92230762
76	MP0005394_taste/olfaction_phenotype	0.91714566
77	MP0005499_abnormal_olfactory_system	0.91714566
78	MP0005551_abnormal_eye_electrophysiolog	0.90250751
79	MP0005187_abnormal_penis_morphology	0.88467555
80	MP0003786_premature_aging	0.88232996
81	MP0002084_abnormal_developmental_patter	0.88122383
82	MP0000639_abnormal_adrenal_gland	0.88078146
83	MP0009046_muscle_twitch	0.87166082
84	MP0003861_abnormal_nervous_system	0.86753033
85	MP0004215_abnormal_myocardial_fiber	0.84418352
86	MP0003943_abnormal_hepatobiliary_system	0.84284918
87	MP0004811_abnormal_neuron_physiology	0.84129987
88	MP0008775_abnormal_heart_ventricle	0.83610362
89	MP0006036_abnormal_mitochondrial_physio	0.81949195
90	MP0003879_abnormal_hair_cell	0.81926855
91	MP0002152_abnormal_brain_morphology	0.81186033
92	MP0002572_abnormal_emotion/affect_behav	0.80530024
93	MP0005310_abnormal_salivary_gland	0.79024875
94	MP0004484_altered_response_of	0.78293744
95	MP0003693_abnormal_embryo_hatching	0.77818458
96	MP0000534_abnormal_ureter_morphology	0.77507666
97	MP0002751_abnormal_autonomic_nervous	0.75335854
98	MP0009384_cardiac_valve_regurgitation	0.74498703
99	MP0001486_abnormal_startle_reflex	0.74456000
100	MP0002638_abnormal_pupillary_reflex	0.73531196

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Mesomelia (HP:0003027)	4.44376181
2	Type I transferrin isoform profile (HP:0003642)	4.31893207
3	Abnormality of lateral ventricle (HP:0030047)	4.31218958
4	Broad-based gait (HP:0002136)	4.22852549
5	Long nose (HP:0003189)	3.92001207
6	Abnormality of the labia minora (HP:0012880)	3.88749670
7	Reduced antithrombin III activity (HP:0001976)	3.70792833
8	Neoplasm of the oral cavity (HP:0100649)	3.59690607
9	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	3.54928973
10	Short 4th metacarpal (HP:0010044)	3.54928973
11	Abnormal protein N-linked glycosylation (HP:0012347)	3.50716621
12	Abnormal protein glycosylation (HP:0012346)	3.50716621
13	Abnormal glycosylation (HP:0012345)	3.50716621
14	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	3.50716621
15	Conical tooth (HP:0000698)	3.42704599
16	Molar tooth sign on MRI (HP:0002419)	3.29020934
17	Abnormality of midbrain morphology (HP:0002418)	3.29020934
18	Preaxial foot polydactyly (HP:0001841)	3.25041232
19	Abnormality of the parathyroid morphology (HP:0011766)	3.07011671
20	Progressive inability to walk (HP:0002505)	2.84882528
21	Pancreatic fibrosis (HP:0100732)	2.81225793
22	Bifid tongue (HP:0010297)	2.79296476
23	Pancreatic cysts (HP:0001737)	2.67572908
24	Hypoplastic labia majora (HP:0000059)	2.66832649
25	True hermaphroditism (HP:0010459)	2.66466286
26	Abnormality of the corticospinal tract (HP:0002492)	2.60971857
27	Chronic hepatic failure (HP:0100626)	2.60038196
28	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.59921488
29	Small hand (HP:0200055)	2.57449592
30	Nephronophthisis (HP:0000090)	2.52534467
31	Abnormality of the 4th metacarpal (HP:0010012)	2.52302478
32	Gonadotropin excess (HP:0000837)	2.51316906
33	Birth length less than 3rd percentile (HP:0003561)	2.51081947
34	Hyperventilation (HP:0002883)	2.50592892
35	Absent eyebrow (HP:0002223)	2.42234290
36	Oligodontia (HP:0000677)	2.41199321
37	Abnormality of the labia majora (HP:0012881)	2.40080437
38	Abnormal lung lobation (HP:0002101)	2.38170145
39	Inability to walk (HP:0002540)	2.37176925
40	Medial flaring of the eyebrow (HP:0010747)	2.36775113
41	Diastasis recti (HP:0001540)	2.36426821
42	Abnormal biliary tract physiology (HP:0012439)	2.35347463
43	Bile duct proliferation (HP:0001408)	2.35347463
44	Cystic liver disease (HP:0006706)	2.31650877
45	Patellar aplasia (HP:0006443)	2.30772533
46	Genital tract atresia (HP:0001827)	2.29330783
47	Vaginal atresia (HP:0000148)	2.24096574
48	Morphological abnormality of the middle ear (HP:0008609)	2.22180015
49	Adrenal hypoplasia (HP:0000835)	2.22122547
50	Aplasia/Hypoplasia of the sternum (HP:0006714)	2.20346685
51	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.19229913
52	Congenital primary aphakia (HP:0007707)	2.18553739
53	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.18408561
54	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.16578541
55	Hip contracture (HP:0003273)	2.15504486
56	Type II lissencephaly (HP:0007260)	2.15046527
57	Absent septum pellucidum (HP:0001331)	2.14350678
58	Abnormality of chromosome stability (HP:0003220)	2.13330750
59	Facial cleft (HP:0002006)	2.12423581
60	Aplasia/Hypoplasia of the patella (HP:0006498)	2.10908503
61	Abnormality of the labia (HP:0000058)	2.09444978
62	Abnormality of the lower motor neuron (HP:0002366)	2.09146924
63	Bulbous nose (HP:0000414)	2.09055790
64	Gait imbalance (HP:0002141)	2.08006849
65	Retinal dysplasia (HP:0007973)	2.06022237
66	Morphological abnormality of the inner ear (HP:0011390)	2.05873889
67	Exotropia (HP:0000577)	2.05748982
68	Hepatoblastoma (HP:0002884)	2.03583747
69	Abnormality of the ischium (HP:0003174)	2.01779945
70	Abnormality of the intrinsic pathway (HP:0010989)	2.01632945
71	Abnormality of the septum pellucidum (HP:0007375)	2.01156175
72	Missing ribs (HP:0000921)	1.99849850
73	Hypoplastic ischia (HP:0003175)	1.98916915
74	Preaxial hand polydactyly (HP:0001177)	1.98421088
75	Poor coordination (HP:0002370)	1.96218332
76	Abnormal pancreas size (HP:0012094)	1.96183638
77	Short tibia (HP:0005736)	1.95348955
78	Cutaneous finger syndactyly (HP:0010554)	1.94803113
79	Abnormality of the phalanges of the 5th finger (HP:0004213)	1.94666419
80	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.93478093
81	Spastic tetraparesis (HP:0001285)	1.92942846
82	Abnormality of the renal medulla (HP:0100957)	1.92463167
83	Septo-optic dysplasia (HP:0100842)	1.90120401
84	Short middle phalanx of the 5th finger (HP:0004220)	1.89731514
85	Abnormality of the pubic bones (HP:0003172)	1.87787663
86	Hand muscle atrophy (HP:0009130)	1.86872070
87	Enlarged kidneys (HP:0000105)	1.85919999
88	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	1.85262296
89	Postaxial foot polydactyly (HP:0001830)	1.84730607
90	Oculomotor apraxia (HP:0000657)	1.84541183
91	Rib fusion (HP:0000902)	1.84329119
92	Cleft eyelid (HP:0000625)	1.83956529
93	Nephrogenic diabetes insipidus (HP:0009806)	1.82480095
94	11 pairs of ribs (HP:0000878)	1.79671140
95	Lissencephaly (HP:0001339)	1.79514092
96	Sclerocornea (HP:0000647)	1.78280731
97	Muscular hypotonia of the trunk (HP:0008936)	1.76998553
98	Widely spaced teeth (HP:0000687)	1.76595977
99	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.76456925
100	Azoospermia (HP:0000027)	1.75453860

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BCR	3.57215142
2	FRK	3.47783076
3	STK16	3.38550523
4	CDC42BPA	3.14933662
5	PNCK	3.10588157
6	NUAK1	3.04660002
7	NEK2	2.89462781
8	BRSK2	2.75842186
9	TGFBR2	2.49102650
10	DMPK	2.45183919
11	MAP4K2	2.35650837
12	TAOK3	2.24537856
13	LATS1	2.07561537
14	PLK2	2.03108579
15	EPHA4	2.00882415
16	WNK1	1.99812452
17	CDK3	1.86532253
18	EIF2AK1	1.86177918
19	MKNK2	1.82975316
20	WEE1	1.77462341
21	TTK	1.73667355
22	STK3	1.70601180
23	AKT3	1.63916826
24	TNIK	1.58118476
25	ADRBK2	1.54082087
26	WNK3	1.53177779
27	CDK19	1.53059302
28	MET	1.47995260
29	SGK2	1.44549904
30	SIK2	1.39712758
31	BMPR1B	1.39105132
32	MAP3K10	1.35081642
33	PDK2	1.33262994
34	CASK	1.31192154
35	TLK1	1.19680052
36	STK38	1.17873724
37	PLK1	1.12178245
38	EIF2AK3	1.10668945
39	NTRK3	1.09764348
40	GRK1	1.06597886
41	BRSK1	1.03327790
42	ROCK1	1.00332588
43	PDGFRB	1.00045576
44	CAMK2A	0.99309095
45	NEK1	0.97378603
46	OXSR1	0.96583977
47	TYRO3	0.93192522
48	BMX	0.88969788
49	SGK223	0.84978749
50	SGK494	0.84978749
51	ADRBK1	0.84786696
52	HCK	0.81044084
53	CLK1	0.80322731
54	FGR	0.77546159
55	EPHB2	0.74811989
56	BUB1	0.72788035
57	BRAF	0.70102860
58	PLK3	0.67261191
59	TRIM28	0.67207474
60	RPS6KA4	0.66580937
61	PRKDC	0.64635465
62	PRKCG	0.63940541
63	CAMK2B	0.62357759
64	BCKDK	0.60759322
65	SGK1	0.60675138
66	PINK1	0.60379429
67	MAP3K4	0.60147953
68	ATM	0.59828450
69	TNK2	0.57961717
70	PRKCE	0.57042134
71	CAMK2D	0.54089460
72	WNK4	0.53698666
73	MINK1	0.51916452
74	SGK3	0.50445090
75	INSRR	0.49019554
76	CHEK1	0.47432559
77	STK38L	0.46796402
78	ERBB3	0.46325910
79	MKNK1	0.46061616
80	CAMK2G	0.45218839
81	OBSCN	0.39635514
82	PTK2	0.39093984
83	PLK4	0.38363505
84	DYRK3	0.38139498
85	CHEK2	0.38112932
86	CAMK1G	0.37181754
87	MAP3K9	0.36780263
88	PTK2B	0.36460979
89	ATR	0.35709333
90	LCK	0.35012250
91	ABL1	0.34735388
92	VRK1	0.32880038
93	CSNK1E	0.31365935
94	CAMKK2	0.30499176
95	CDK1	0.30187828
96	PRKAA2	0.28802762
97	PDK1	0.27244298
98	PKN1	0.27157336
99	CSNK1G2	0.26669419
100	MAPK13	0.26443328

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	5.33296485
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	4.36570523
3	Regulation of autophagy_Homo sapiens_hsa04140	2.61526264
4	Homologous recombination_Homo sapiens_hsa03440	2.50461377
5	N-Glycan biosynthesis_Homo sapiens_hsa00510	2.31026934
6	Caffeine metabolism_Homo sapiens_hsa00232	2.30269887
7	Non-homologous end-joining_Homo sapiens_hsa03450	2.18642922
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.15070951
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.10365028
10	RNA degradation_Homo sapiens_hsa03018	2.01070567
11	Propanoate metabolism_Homo sapiens_hsa00640	1.98741230
12	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.96088054
13	Basal transcription factors_Homo sapiens_hsa03022	1.83386179
14	Taste transduction_Homo sapiens_hsa04742	1.80793032
15	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.67453731
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.64054937
17	Pyruvate metabolism_Homo sapiens_hsa00620	1.62430564
18	RNA transport_Homo sapiens_hsa03013	1.54577616
19	Fatty acid elongation_Homo sapiens_hsa00062	1.51989675
20	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.47116467
21	Oocyte meiosis_Homo sapiens_hsa04114	1.46425706
22	Nicotine addiction_Homo sapiens_hsa05033	1.43891836
23	Cell cycle_Homo sapiens_hsa04110	1.43013440
24	Glutamatergic synapse_Homo sapiens_hsa04724	1.41813759
25	DNA replication_Homo sapiens_hsa03030	1.39126428
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.32788895
27	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.31034338
28	Nucleotide excision repair_Homo sapiens_hsa03420	1.26098134
29	Insulin secretion_Homo sapiens_hsa04911	1.24367504
30	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.24207333
31	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.20900837
32	Phototransduction_Homo sapiens_hsa04744	1.19142980
33	Pyrimidine metabolism_Homo sapiens_hsa00240	1.17810047
34	ABC transporters_Homo sapiens_hsa02010	1.13876697
35	Base excision repair_Homo sapiens_hsa03410	1.12771378
36	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.10274207
37	Nitrogen metabolism_Homo sapiens_hsa00910	1.10093458
38	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.08045156
39	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.06793441
40	Circadian entrainment_Homo sapiens_hsa04713	1.05179187
41	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	1.04064764
42	RNA polymerase_Homo sapiens_hsa03020	1.01583240
43	Olfactory transduction_Homo sapiens_hsa04740	1.00900086
44	Protein export_Homo sapiens_hsa03060	0.96594571
45	Huntingtons disease_Homo sapiens_hsa05016	0.93887267
46	Sulfur metabolism_Homo sapiens_hsa00920	0.93806674
47	Lysine degradation_Homo sapiens_hsa00310	0.91999286
48	beta-Alanine metabolism_Homo sapiens_hsa00410	0.90080046
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.88760960
50	Morphine addiction_Homo sapiens_hsa05032	0.86310263
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.86104703
52	Peroxisome_Homo sapiens_hsa04146	0.83545355
53	Calcium signaling pathway_Homo sapiens_hsa04020	0.81133771
54	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.80309085
55	Parkinsons disease_Homo sapiens_hsa05012	0.80010251
56	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.78789416
57	Selenocompound metabolism_Homo sapiens_hsa00450	0.78715849
58	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.78669903
59	Retinol metabolism_Homo sapiens_hsa00830	0.77946883
60	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.76441471
61	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.75210718
62	Axon guidance_Homo sapiens_hsa04360	0.74967857
63	Oxidative phosphorylation_Homo sapiens_hsa00190	0.73692856
64	Fatty acid metabolism_Homo sapiens_hsa01212	0.73019787
65	Purine metabolism_Homo sapiens_hsa00230	0.72233881
66	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.68745134
67	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.62871357
68	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.61599467
69	Salivary secretion_Homo sapiens_hsa04970	0.61206108
70	Mismatch repair_Homo sapiens_hsa03430	0.60992185
71	Hippo signaling pathway_Homo sapiens_hsa04390	0.60786261
72	Fat digestion and absorption_Homo sapiens_hsa04975	0.60223429
73	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.59367787
74	Alzheimers disease_Homo sapiens_hsa05010	0.58087717
75	Dopaminergic synapse_Homo sapiens_hsa04728	0.57706216
76	Glycerolipid metabolism_Homo sapiens_hsa00561	0.57010083
77	Basal cell carcinoma_Homo sapiens_hsa05217	0.55033009
78	Cholinergic synapse_Homo sapiens_hsa04725	0.52589857
79	Glucagon signaling pathway_Homo sapiens_hsa04922	0.52445732
80	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.51978442
81	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.50641038
82	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.50590628
83	cAMP signaling pathway_Homo sapiens_hsa04024	0.50570452
84	Cardiac muscle contraction_Homo sapiens_hsa04260	0.48489258
85	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.48333931
86	Sphingolipid metabolism_Homo sapiens_hsa00600	0.48329933
87	Chemical carcinogenesis_Homo sapiens_hsa05204	0.48270590
88	GABAergic synapse_Homo sapiens_hsa04727	0.47623605
89	Serotonergic synapse_Homo sapiens_hsa04726	0.45935843
90	Proteasome_Homo sapiens_hsa03050	0.44839795
91	Adherens junction_Homo sapiens_hsa04520	0.44667863
92	Metabolic pathways_Homo sapiens_hsa01100	0.44083720
93	p53 signaling pathway_Homo sapiens_hsa04115	0.42534849
94	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.41672296
95	ErbB signaling pathway_Homo sapiens_hsa04012	0.41509066
96	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.41015009
97	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.40941203
98	Butanoate metabolism_Homo sapiens_hsa00650	0.38571255
99	Renin secretion_Homo sapiens_hsa04924	0.37869944
100	Pancreatic secretion_Homo sapiens_hsa04972	0.36483344

MRPL40P1

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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