AP3M1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.14257250
2L-phenylalanine catabolic process (GO:0006559)7.14257250
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.67980345
4L-phenylalanine metabolic process (GO:0006558)6.67980345
5nuclear pore complex assembly (GO:0051292)6.48749161
6aromatic amino acid family catabolic process (GO:0009074)5.75292153
7nuclear pore organization (GO:0006999)5.62834297
8mitotic sister chromatid cohesion (GO:0007064)5.33851164
9alpha-linolenic acid metabolic process (GO:0036109)5.27446459
10glyoxylate metabolic process (GO:0046487)5.07387550
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.06594324
12protein localization to kinetochore (GO:0034501)5.05480243
13cysteine metabolic process (GO:0006534)4.94129774
14bile acid biosynthetic process (GO:0006699)4.92763317
15pore complex assembly (GO:0046931)4.92287848
16protein localization to chromosome, centromeric region (GO:0071459)4.87732746
17sister chromatid segregation (GO:0000819)4.70661283
18peptidyl-glutamic acid carboxylation (GO:0017187)4.68392601
19protein carboxylation (GO:0018214)4.68392601
20mitotic sister chromatid segregation (GO:0000070)4.66031621
21cellular glucuronidation (GO:0052695)4.55850107
22fatty acid elongation (GO:0030497)4.55409845
23tryptophan catabolic process (GO:0006569)4.54245045
24indole-containing compound catabolic process (GO:0042436)4.54245045
25indolalkylamine catabolic process (GO:0046218)4.54245045
26high-density lipoprotein particle remodeling (GO:0034375)4.51277448
27mitotic chromosome condensation (GO:0007076)4.50456668
28negative regulation of fibrinolysis (GO:0051918)4.49901225
29mitotic metaphase plate congression (GO:0007080)4.48727786
30tryptophan metabolic process (GO:0006568)4.47056705
31kynurenine metabolic process (GO:0070189)4.35513086
32purine ribonucleotide transport (GO:0015868)4.31197719
33regulation of sister chromatid cohesion (GO:0007063)4.30440730
34regulation of protein activation cascade (GO:2000257)4.29389946
35sulfur amino acid catabolic process (GO:0000098)4.28833054
36urea cycle (GO:0000050)4.27988306
37urea metabolic process (GO:0019627)4.27988306
38regulation of fibrinolysis (GO:0051917)4.27560487
39tyrosine metabolic process (GO:0006570)4.25340651
40complement activation, alternative pathway (GO:0006957)4.23360280
41regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.23223864
42metaphase plate congression (GO:0051310)4.21315759
43aldehyde catabolic process (GO:0046185)4.19576800
44bile acid metabolic process (GO:0008206)4.19313184
45serine family amino acid biosynthetic process (GO:0009070)4.15876876
46glucuronate metabolic process (GO:0019585)4.12108309
47uronic acid metabolic process (GO:0006063)4.12108309
48aromatic amino acid family metabolic process (GO:0009072)4.09984772
49lysine metabolic process (GO:0006553)4.09138254
50lysine catabolic process (GO:0006554)4.09138254
51reverse cholesterol transport (GO:0043691)4.07367956
52nucleotide transmembrane transport (GO:1901679)4.06820241
53regulation of complement activation (GO:0030449)4.03513198
54purine nucleotide transport (GO:0015865)4.00325272
55L-serine metabolic process (GO:0006563)3.96900579
56DNA replication checkpoint (GO:0000076)3.96392627
57mitotic nuclear envelope disassembly (GO:0007077)3.96186534
58cellular ketone body metabolic process (GO:0046950)3.93482638
59protein-lipid complex remodeling (GO:0034368)3.92773360
60macromolecular complex remodeling (GO:0034367)3.92773360
61plasma lipoprotein particle remodeling (GO:0034369)3.92773360
62ribosome assembly (GO:0042255)3.87879526
63very long-chain fatty acid metabolic process (GO:0000038)3.86573032
64nitrogen cycle metabolic process (GO:0071941)3.86102574
65plasma lipoprotein particle clearance (GO:0034381)3.83233065
66alpha-amino acid catabolic process (GO:1901606)3.83104364
67DNA topological change (GO:0006265)3.83096690
68establishment of integrated proviral latency (GO:0075713)3.81829726
69homocysteine metabolic process (GO:0050667)3.79429724
70non-recombinational repair (GO:0000726)3.79355627
71double-strand break repair via nonhomologous end joining (GO:0006303)3.79355627
72regulation of mitotic spindle organization (GO:0060236)3.78680724
73cholesterol biosynthetic process (GO:0006695)3.78445942
74serine family amino acid catabolic process (GO:0009071)3.78127710
75regulation of triglyceride catabolic process (GO:0010896)3.76774841
76establishment of chromosome localization (GO:0051303)3.76717922
77fatty-acyl-CoA biosynthetic process (GO:0046949)3.75833486
78regulation of cholesterol biosynthetic process (GO:0045540)3.75373737
79DNA unwinding involved in DNA replication (GO:0006268)3.70500162
80coenzyme catabolic process (GO:0009109)3.70157763
81long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.69492570
82serine family amino acid metabolic process (GO:0009069)3.67084843
83membrane disassembly (GO:0030397)3.66348166
84nuclear envelope disassembly (GO:0051081)3.66348166
85COPII vesicle coating (GO:0048208)3.65751040
86regulation of cholesterol metabolic process (GO:0090181)3.65263868
87DNA strand elongation involved in DNA replication (GO:0006271)3.62373745
88CENP-A containing nucleosome assembly (GO:0034080)3.62158169
89triglyceride homeostasis (GO:0070328)3.61491357
90acylglycerol homeostasis (GO:0055090)3.61491357
91cellular modified amino acid catabolic process (GO:0042219)3.61064050
92tRNA aminoacylation for protein translation (GO:0006418)3.60611766
93fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.60479457
94spindle checkpoint (GO:0031577)3.59283786
95mitotic spindle checkpoint (GO:0071174)3.58524313
96fibrinolysis (GO:0042730)3.58081027
97amino acid activation (GO:0043038)3.55165195
98tRNA aminoacylation (GO:0043039)3.55165195
99COPI coating of Golgi vesicle (GO:0048205)3.55015580
100Golgi transport vesicle coating (GO:0048200)3.55015580
101DNA strand elongation (GO:0022616)3.54443766
102chromatin remodeling at centromere (GO:0031055)3.51894277
103regulation of DNA endoreduplication (GO:0032875)3.51605069
104cellular amino acid catabolic process (GO:0009063)3.51022378
105regulation of chromosome segregation (GO:0051983)3.49954345
106cofactor catabolic process (GO:0051187)3.49668141
107regulation of cholesterol esterification (GO:0010872)3.48844810
108DNA ligation (GO:0006266)3.48211938
109cholesterol efflux (GO:0033344)3.47683624
110kinetochore organization (GO:0051383)3.47641449
111protein localization to chromosome (GO:0034502)3.45526298
112amino-acid betaine metabolic process (GO:0006577)3.41753018
113regulation of mitotic metaphase/anaphase transition (GO:0030071)3.41706139
114regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.41706139
115telomere maintenance via semi-conservative replication (GO:0032201)3.41411109
116regulation of spindle organization (GO:0090224)3.41144659
117aspartate family amino acid catabolic process (GO:0009068)3.41036717
118regulation of bile acid biosynthetic process (GO:0070857)3.39700264
119central nervous system myelination (GO:0022010)3.39130805
120axon ensheathment in central nervous system (GO:0032291)3.39130805
121ketone body metabolic process (GO:1902224)3.38698813
122glycine metabolic process (GO:0006544)3.38311848
123negative regulation of chromosome segregation (GO:0051985)3.37901645
124spindle assembly checkpoint (GO:0071173)3.37802792
125heme transport (GO:0015886)3.37533441
126negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.36825534
127negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.36825534
128negative regulation of mitotic sister chromatid segregation (GO:0033048)3.36825534
129negative regulation of mitotic sister chromatid separation (GO:2000816)3.36825534
130negative regulation of sister chromatid segregation (GO:0033046)3.36825534
131DNA double-strand break processing (GO:0000729)3.35646192
132sterol biosynthetic process (GO:0016126)3.35471050
133mitotic spindle assembly checkpoint (GO:0007094)3.35015508
134glutamate metabolic process (GO:0006536)3.32843100
135negative regulation of cholesterol transport (GO:0032375)3.31962836
136negative regulation of sterol transport (GO:0032372)3.31962836
137adenine nucleotide transport (GO:0051503)3.30732364
138bile acid and bile salt transport (GO:0015721)3.30194386
139ethanol oxidation (GO:0006069)3.29365995
140thioester biosynthetic process (GO:0035384)3.29241970
141acyl-CoA biosynthetic process (GO:0071616)3.29241970
142regulation of sister chromatid segregation (GO:0033045)3.28436674
143regulation of mitotic sister chromatid separation (GO:0010965)3.28436674
144regulation of mitotic sister chromatid segregation (GO:0033047)3.28436674
145DNA replication-independent nucleosome organization (GO:0034724)3.28066428
146DNA replication-independent nucleosome assembly (GO:0006336)3.28066428
147low-density lipoprotein particle remodeling (GO:0034374)3.27944100
148indolalkylamine metabolic process (GO:0006586)3.27833099
149purine nucleobase biosynthetic process (GO:0009113)3.26246181
150amine catabolic process (GO:0009310)3.25499833
151cellular biogenic amine catabolic process (GO:0042402)3.25499833
152cholesterol homeostasis (GO:0042632)3.24456708
153sterol homeostasis (GO:0055092)3.23265579
154arginine metabolic process (GO:0006525)3.22927797
155regulation of centriole replication (GO:0046599)3.22757495
156acetyl-CoA metabolic process (GO:0006084)3.22419468
157nucleotide transport (GO:0006862)3.21666838
158opsonization (GO:0008228)3.21635591
159mitotic recombination (GO:0006312)3.20606724
160resolution of meiotic recombination intermediates (GO:0000712)3.20533579
161nucleotide-excision repair, DNA gap filling (GO:0006297)3.17566168
162phospholipid efflux (GO:0033700)3.16201854
163response to nitrosative stress (GO:0051409)3.15640404
164positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.15608031
165positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.15608031
166positive regulation of mitotic sister chromatid separation (GO:1901970)3.15608031
167attachment of spindle microtubules to kinetochore (GO:0008608)3.14742063
168sister chromatid cohesion (GO:0007062)3.14403986
169formation of translation preinitiation complex (GO:0001731)3.14333505
170intestinal cholesterol absorption (GO:0030299)3.13375554
171very-low-density lipoprotein particle assembly (GO:0034379)3.13282283
172chromosome segregation (GO:0007059)3.10635087
173replication fork processing (GO:0031297)3.08343716
174telomere maintenance via recombination (GO:0000722)3.08089433
175histone H2B ubiquitination (GO:0033523)3.07477113
176histone H2A acetylation (GO:0043968)3.06459997
177positive regulation of chromosome segregation (GO:0051984)3.04015230
178negative regulation of DNA recombination (GO:0045910)3.03543779
179IMP biosynthetic process (GO:0006188)2.95644872
180anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.92275862
181nucleobase biosynthetic process (GO:0046112)2.92034510
182microtubule depolymerization (GO:0007019)2.91713734
183DNA replication-dependent nucleosome assembly (GO:0006335)2.91334201
184DNA replication-dependent nucleosome organization (GO:0034723)2.91334201
185establishment of viral latency (GO:0019043)2.90978387
186regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.90307936
187nuclear envelope organization (GO:0006998)2.89874578
188mitotic spindle organization (GO:0007052)2.86581305
189ATP-dependent chromatin remodeling (GO:0043044)2.84754456
190histone exchange (GO:0043486)2.83296298
191DNA packaging (GO:0006323)2.80213362
192folic acid-containing compound biosynthetic process (GO:0009396)2.80034512
193chromosome condensation (GO:0030261)2.79833816
194meiotic chromosome segregation (GO:0045132)2.78491284
195ribonucleoprotein complex disassembly (GO:0032988)2.76698635
196mitotic cell cycle (GO:0000278)2.76400387
197negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.76228136
198positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.75485553
199DNA synthesis involved in DNA repair (GO:0000731)2.72977133
200DNA geometric change (GO:0032392)2.72957036

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.53113172
2E2F7_22180533_ChIP-Seq_HELA_Human7.32076502
3RXR_22158963_ChIP-Seq_LIVER_Mouse6.72599642
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.67519838
5EGR1_23403033_ChIP-Seq_LIVER_Mouse5.66002202
6LXR_22158963_ChIP-Seq_LIVER_Mouse5.38653594
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.40024894
8E2F4_17652178_ChIP-ChIP_JURKAT_Human4.17643216
9FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.07775028
10FOXM1_23109430_ChIP-Seq_U2OS_Human4.00171439
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.99525727
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.89433530
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.23951196
14SALL1_21062744_ChIP-ChIP_HESCs_Human3.16707334
15* KDM5B_21448134_ChIP-Seq_MESCs_Mouse3.07482239
16ELK1_19687146_ChIP-ChIP_HELA_Human3.05240936
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.99458415
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.91198199
19EST1_17652178_ChIP-ChIP_JURKAT_Human2.89525595
20PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.81582049
21TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.76169960
22CLOCK_20551151_ChIP-Seq_293T_Human2.47801836
23MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.37050472
24HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.32830223
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.27140471
26FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.23986864
27ETS1_20019798_ChIP-Seq_JURKAT_Human2.22802075
28EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.19281366
29PADI4_21655091_ChIP-ChIP_MCF-7_Human2.19023943
30PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.17798539
31* MYCN_18555785_ChIP-Seq_MESCs_Mouse2.17051633
32MYC_19030024_ChIP-ChIP_MESCs_Mouse2.14966918
33* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.12577578
34YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.11657758
35VDR_23849224_ChIP-Seq_CD4+_Human2.10833555
36DCP1A_22483619_ChIP-Seq_HELA_Human2.06959606
37* E2F1_21310950_ChIP-Seq_MCF-7_Human2.06788026
38JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.04587158
39FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.04482239
40ELF1_17652178_ChIP-ChIP_JURKAT_Human2.00393824
41STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.99137685
42SALL4_18804426_ChIP-ChIP_XEN_Mouse1.97634090
43HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94429229
44TRIM28_21343339_ChIP-Seq_HEK293_Human1.92994808
45FOXP3_21729870_ChIP-Seq_TREG_Human1.91970113
46TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.91559547
47MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.90846957
48AR_21909140_ChIP-Seq_LNCAP_Human1.87113999
49* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.81398336
50MYC_19079543_ChIP-ChIP_MESCs_Mouse1.81393568
51HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.77610128
52XRN2_22483619_ChIP-Seq_HELA_Human1.74491313
53* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.74324869
54GABP_19822575_ChIP-Seq_HepG2_Human1.72827483
55THAP11_20581084_ChIP-Seq_MESCs_Mouse1.72380135
56ZFX_18555785_ChIP-Seq_MESCs_Mouse1.72010735
57HTT_18923047_ChIP-ChIP_STHdh_Human1.71797819
58POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.71777947
59E2F1_18555785_ChIP-Seq_MESCs_Mouse1.67775265
60TTF2_22483619_ChIP-Seq_HELA_Human1.67354038
61NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.65376393
62EGR1_19374776_ChIP-ChIP_THP-1_Human1.63576267
63TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.63128378
64* KDM5A_27292631_Chip-Seq_BREAST_Human1.62291265
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.60935105
66NRF2_20460467_ChIP-Seq_MEFs_Mouse1.60935105
67MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.54698561
68FOXA2_19822575_ChIP-Seq_HepG2_Human1.53848062
69CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.51048670
70* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.50432494
71* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.48914436
72WT1_19549856_ChIP-ChIP_CCG9911_Human1.45322951
73E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.43162388
74SOX2_20726797_ChIP-Seq_SW620_Human1.42863550
75ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.41786825
76CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.41325726
77ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.38649267
78FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.37214044
79FUS_26573619_Chip-Seq_HEK293_Human1.37137405
80GATA4_25053715_ChIP-Seq_YYC3_Human1.34198883
81EWS_26573619_Chip-Seq_HEK293_Human1.30617004
82CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.29931234
83PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.25524120
84SRF_21415370_ChIP-Seq_HL-1_Mouse1.24094697
85* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22338187
86AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.21585359
87ERG_20887958_ChIP-Seq_HPC-7_Mouse1.19337207
88HNF4A_19822575_ChIP-Seq_HepG2_Human1.15513015
89TFEB_21752829_ChIP-Seq_HELA_Human1.14839982
90CIITA_25753668_ChIP-Seq_RAJI_Human1.13602346
91CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.10994002
92* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.08940615
93SOX17_20123909_ChIP-Seq_XEN_Mouse1.08455506
94SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.07824629
95SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.06568392
96FOXO3_23340844_ChIP-Seq_DLD1_Human1.05373526
97CHD1_26751641_Chip-Seq_LNCaP_Human1.04760814
98STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02866089
99RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.02562931
100CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.02441920
101FOXA1_25552417_ChIP-Seq_VCAP_Human1.01545673
102ZNF274_21170338_ChIP-Seq_K562_Hela0.99676367
103CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.99328935
104TP63_19390658_ChIP-ChIP_HaCaT_Human0.96892364
105FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.96459471
106RBPJ_22232070_ChIP-Seq_NCS_Mouse0.95799471
107IGF1R_20145208_ChIP-Seq_DFB_Human0.94753215
108MYC_18940864_ChIP-ChIP_HL60_Human0.94614786
109SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.93708906
110BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.92054139
111PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.90408449
112* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89578238
113CJUN_26792858_Chip-Seq_BT549_Human0.89121528
114SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.88739611
115PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.88670146
116TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.88621248
117NANOG_18555785_ChIP-Seq_MESCs_Mouse0.88345991
118* AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87893423
119CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.87841270
120NOTCH1_21737748_ChIP-Seq_TLL_Human0.86571781
121BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.86471827
122NANOG_16153702_ChIP-ChIP_HESCs_Human0.86445281
123CDX2_22108803_ChIP-Seq_LS180_Human0.86276289
124* CBP_21632823_ChIP-Seq_H3396_Human0.84366979
125FLI1_27457419_Chip-Seq_LIVER_Mouse0.84020887
126EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83344811
127IRF1_19129219_ChIP-ChIP_H3396_Human0.83173544
128KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.82276387
129GATA1_22025678_ChIP-Seq_K562_Human0.82146147
130ESR1_20079471_ChIP-ChIP_T-47D_Human0.81755664
131* GATA4_21415370_ChIP-Seq_HL-1_Mouse0.81733533
132Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.81639616
133AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81069922
134FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79695824
135TAF15_26573619_Chip-Seq_HEK293_Human0.79473496
136E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.79147520
137TP63_23658742_ChIP-Seq_EP156T_Human0.79080096
138PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.78826174
139FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.78794447
140* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.78630161
141GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.78283691
142POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.78139244
143ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77925293
144ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.77301554
145CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.76759793
146NANOG_21062744_ChIP-ChIP_HESCs_Human0.76325243
147SOX2_16153702_ChIP-ChIP_HESCs_Human0.74074457
148BRD4_25478319_ChIP-Seq_HGPS_Human0.73921611
149EOMES_21245162_ChIP-Seq_HESCs_Human0.73720101
150ERG_20517297_ChIP-Seq_VCAP_Human0.73392151
151NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.73320249
152DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.73051986
153ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.72743365
154RARG_19884340_ChIP-ChIP_MEFs_Mouse0.72633011
155* GATA3_24758297_ChIP-Seq_MCF-7_Human0.71925343
156KLF4_18555785_ChIP-Seq_MESCs_Mouse0.71744934
157HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.71706241
158SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.71571920
159POU3F2_20337985_ChIP-ChIP_501MEL_Human0.70419323
160RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.70218559
161FOXM1_26456572_ChIP-Seq_MCF-7_Human0.69839284
162AR_20517297_ChIP-Seq_VCAP_Human0.68928412
163PPAR_26484153_Chip-Seq_NCI-H1993_Human0.68757390
164* ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.67077912
165NANOG_19829295_ChIP-Seq_ESCs_Human0.67005572
166SOX2_19829295_ChIP-Seq_ESCs_Human0.67005572
167SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.66828225
168SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.66828225
169SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.66765733
170TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.66136203
171FOXA1_21572438_ChIP-Seq_LNCaP_Human0.64614987
172ESR2_21235772_ChIP-Seq_MCF-7_Human0.63652571
173EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.63448115
174NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.63002698
175PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.60161183
176ESR1_21235772_ChIP-Seq_MCF-7_Human0.58833549
177* CREB1_15753290_ChIP-ChIP_HEK293T_Human0.58645189
178CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.57744085
179GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.54264068
180ZNF217_24962896_ChIP-Seq_MCF-7_Human0.53870830
181MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.53460694
182GABP_17652178_ChIP-ChIP_JURKAT_Human0.52719681
183EZH2_27294783_Chip-Seq_NPCs_Mouse0.52718608
184GATA6_25053715_ChIP-Seq_YYC3_Human0.52712360

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.75835421
2MP0005360_urolithiasis6.63452316
3MP0003806_abnormal_nucleotide_metabolis5.05075499
4MP0005085_abnormal_gallbladder_physiolo5.01806785
5MP0005365_abnormal_bile_salt4.85570519
6MP0010094_abnormal_chromosome_stability4.30455275
7MP0008875_abnormal_xenobiotic_pharmacok3.86199009
8MP0003111_abnormal_nucleus_morphology3.49508156
9MP0008058_abnormal_DNA_repair3.41171216
10MP0004957_abnormal_blastocyst_morpholog3.37951903
11MP0003693_abnormal_embryo_hatching3.29649078
12MP0008057_abnormal_DNA_replication3.28236870
13MP0003252_abnormal_bile_duct3.11796604
14MP0008932_abnormal_embryonic_tissue3.09860852
15MP0003195_calcinosis3.08321727
16MP0003077_abnormal_cell_cycle2.97406671
17MP0005083_abnormal_biliary_tract2.85863864
18MP0009840_abnormal_foam_cell2.84771967
19MP0009697_abnormal_copulation2.78293650
20MP0010329_abnormal_lipoprotein_level2.70119969
21MP0005332_abnormal_amino_acid2.64211121
22MP0002009_preneoplasia2.49039642
23MP0008007_abnormal_cellular_replicative2.46811986
24MP0003705_abnormal_hypodermis_morpholog2.29969446
25MP0001666_abnormal_nutrient_absorption2.27352844
26MP0003186_abnormal_redox_activity2.11351729
27MP0001730_embryonic_growth_arrest2.01036256
28MP0008789_abnormal_olfactory_epithelium1.95723218
29MP0003890_abnormal_embryonic-extraembry1.91404433
30MP0005380_embryogenesis_phenotype1.90702175
31MP0001672_abnormal_embryogenesis/_devel1.90702175
32MP0002118_abnormal_lipid_homeostasis1.83825251
33MP0003984_embryonic_growth_retardation1.78938252
34MP0005408_hypopigmentation1.77952396
35MP0002088_abnormal_embryonic_growth/wei1.76402410
36MP0005248_abnormal_Harderian_gland1.74971320
37MP0003868_abnormal_feces_composition1.74673451
38MP0001697_abnormal_embryo_size1.74378957
39MP0000609_abnormal_liver_physiology1.72755207
40MP0000350_abnormal_cell_proliferation1.72689290
41MP0010307_abnormal_tumor_latency1.64422341
42MP0005451_abnormal_body_composition1.60846895
43MP0001529_abnormal_vocalization1.59455163
44MP0002084_abnormal_developmental_patter1.59379420
45MP0001727_abnormal_embryo_implantation1.59123889
46MP0003221_abnormal_cardiomyocyte_apopto1.58562898
47MP0001293_anophthalmia1.56402923
48MP0010352_gastrointestinal_tract_polyps1.55639932
49MP0006072_abnormal_retinal_apoptosis1.53963263
50MP0009384_cardiac_valve_regurgitation1.53865936
51MP0003385_abnormal_body_wall1.53538492
52MP0002102_abnormal_ear_morphology1.53199756
53MP0005499_abnormal_olfactory_system1.51920490
54MP0005394_taste/olfaction_phenotype1.51920490
55MP0003191_abnormal_cellular_cholesterol1.50722829
56MP0003690_abnormal_glial_cell1.50424820
57MP0001286_abnormal_eye_development1.50372006
58MP0003937_abnormal_limbs/digits/tail_de1.50145098
59MP0003786_premature_aging1.49836608
60MP0003656_abnormal_erythrocyte_physiolo1.48027801
61MP0002085_abnormal_embryonic_tissue1.48001118
62MP0002080_prenatal_lethality1.46460516
63MP0006292_abnormal_olfactory_placode1.45780205
64MP0008438_abnormal_cutaneous_collagen1.44681030
65MP0002234_abnormal_pharynx_morphology1.44589274
66MP0003950_abnormal_plasma_membrane1.43074493
67MP0000566_synostosis1.41935335
68MP0003567_abnormal_fetal_cardiomyocyte1.41118888
69MP0000604_amyloidosis1.39657120
70MP0000920_abnormal_myelination1.37455275
71MP0004197_abnormal_fetal_growth/weight/1.35209485
72MP0003943_abnormal_hepatobiliary_system1.34270080
73MP0005187_abnormal_penis_morphology1.30988319
74MP0005584_abnormal_enzyme/coenzyme_acti1.30446455
75MP0005319_abnormal_enzyme/_coenzyme1.30116407
76MP0002086_abnormal_extraembryonic_tissu1.28971094
77MP0001764_abnormal_homeostasis1.27759228
78MP0003329_amyloid_beta_deposits1.25125866
79MP0009780_abnormal_chondrocyte_physiolo1.25052802
80MP0004233_abnormal_muscle_weight1.24404625
81MP0002254_reproductive_system_inflammat1.24247961
82MP0002138_abnormal_hepatobiliary_system1.22278796
83MP0002751_abnormal_autonomic_nervous1.21972438
84MP0002166_altered_tumor_susceptibility1.19932458
85MP0002697_abnormal_eye_size1.19705336
86MP0009643_abnormal_urine_homeostasis1.19366821
87MP0009053_abnormal_anal_canal1.18647462
88MP0000313_abnormal_cell_death1.18195638
89MP0003755_abnormal_palate_morphology1.16056677
90MP0010234_abnormal_vibrissa_follicle1.13011405
91MP0003935_abnormal_craniofacial_develop1.12775617
92MP0002006_tumorigenesis1.11047213
93MP0010368_abnormal_lymphatic_system1.09559305
94MP0009703_decreased_birth_body1.09423702
95MP0005220_abnormal_exocrine_pancreas1.09197571
96MP0002233_abnormal_nose_morphology1.08164542
97MP0004019_abnormal_vitamin_homeostasis1.07440602
98MP0000598_abnormal_liver_morphology1.04266880
99MP0000579_abnormal_nail_morphology1.03814592
100MP0003121_genomic_imprinting1.03606898
101MP0002092_abnormal_eye_morphology1.03465714
102MP0000358_abnormal_cell_content/1.00988747
103MP0003315_abnormal_perineum_morphology0.96284792
104MP0002396_abnormal_hematopoietic_system0.96063584
105MP0003861_abnormal_nervous_system0.92039645
106MP0009763_increased_sensitivity_to0.91564873
107MP0005647_abnormal_sex_gland0.89698798
108MP0005391_vision/eye_phenotype0.89374642
109MP0006035_abnormal_mitochondrial_morpho0.89366523
110MP0000647_abnormal_sebaceous_gland0.87400183
111MP0001188_hyperpigmentation0.86581697
112MP0001243_abnormal_dermal_layer0.85808248
113MP0004043_abnormal_pH_regulation0.85799925
114MP0001542_abnormal_bone_strength0.84021184
115MP0004185_abnormal_adipocyte_glucose0.83950559
116MP0005253_abnormal_eye_physiology0.83880337
117MP0005623_abnormal_meninges_morphology0.81288716
118MP0005384_cellular_phenotype0.80812938
119MP0002210_abnormal_sex_determination0.80127718
120MP0005076_abnormal_cell_differentiation0.80026169
121MP0002177_abnormal_outer_ear0.79705755
122MP0003941_abnormal_skin_development0.78193667
123MP0002295_abnormal_pulmonary_circulatio0.78017410
124MP0005164_abnormal_response_to0.77611305
125MP0002019_abnormal_tumor_incidence0.77386495
126MP0006036_abnormal_mitochondrial_physio0.75553857
127MP0009765_abnormal_xenobiotic_induced0.75541159
128MP0000516_abnormal_urinary_system0.75451990
129MP0005367_renal/urinary_system_phenotyp0.75451990
130MP0008995_early_reproductive_senescence0.75410272
131MP0001929_abnormal_gametogenesis0.75095400
132MP0005376_homeostasis/metabolism_phenot0.75000607
133MP0001145_abnormal_male_reproductive0.74702788
134MP0001299_abnormal_eye_distance/0.74411992
135MP0005058_abnormal_lysosome_morphology0.74290877
136MP0001661_extended_life_span0.74188492
137MP0003300_gastrointestinal_ulcer0.74186896
138MP0000432_abnormal_head_morphology0.74061895
139MP0005621_abnormal_cell_physiology0.74048410
140MP0004134_abnormal_chest_morphology0.73935374
141MP0001340_abnormal_eyelid_morphology0.72420525
142MP0004808_abnormal_hematopoietic_stem0.72380377
143MP0000467_abnormal_esophagus_morphology0.72044327
144MP0000490_abnormal_crypts_of0.71835597
145MP0004147_increased_porphyrin_level0.71672014
146MP0002938_white_spotting0.71313389
147MP0001346_abnormal_lacrimal_gland0.70761340
148MP0005395_other_phenotype0.70503949
149MP0002971_abnormal_brown_adipose0.69041295
150MP0001915_intracranial_hemorrhage0.69019729
151MP0000462_abnormal_digestive_system0.68043179
152MP0006054_spinal_hemorrhage0.67854215
153MP0000639_abnormal_adrenal_gland0.67605311
154MP0005636_abnormal_mineral_homeostasis0.67589139
155MP0005084_abnormal_gallbladder_morpholo0.67459484
156MP0002876_abnormal_thyroid_physiology0.66946157
157MP0003718_maternal_effect0.66433351
158MP0002078_abnormal_glucose_homeostasis0.65879959
159MP0009764_decreased_sensitivity_to0.64700085
160MP0004272_abnormal_basement_membrane0.62372308
161MP0002098_abnormal_vibrissa_morphology0.62339555
162MP0000613_abnormal_salivary_gland0.61111070
163MP0008469_abnormal_protein_level0.60760143
164MP0009642_abnormal_blood_homeostasis0.60735652
165MP0003453_abnormal_keratinocyte_physiol0.59753695
166MP0002877_abnormal_melanocyte_morpholog0.59523844
167MP0001881_abnormal_mammary_gland0.58563266
168MP0004883_abnormal_blood_vessel0.58170297
169MP0004264_abnormal_extraembryonic_tissu0.57586277
170MP0002796_impaired_skin_barrier0.57316425
171MP0009672_abnormal_birth_weight0.55561060
172MP0002168_other_aberrant_phenotype0.54720640
173MP0005023_abnormal_wound_healing0.53090612
174MP0005666_abnormal_adipose_tissue0.53052177
175MP0000377_abnormal_hair_follicle0.51953944
176MP0010678_abnormal_skin_adnexa0.50586734
177MP0003632_abnormal_nervous_system0.49854824
178MP0005595_abnormal_vascular_smooth0.48574354
179MP0008260_abnormal_autophagy0.48418788
180MP0003011_delayed_dark_adaptation0.48364121
181MP0000230_abnormal_systemic_arterial0.47195467
182MP0001944_abnormal_pancreas_morphology0.46566856
183MP0000762_abnormal_tongue_morphology0.46080950
184MP0004885_abnormal_endolymph0.45453430
185MP0005334_abnormal_fat_pad0.44875462

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.83464660
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.57582618
3Deep venous thrombosis (HP:0002625)6.11500012
4Xanthomatosis (HP:0000991)5.40780012
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.21143818
6Volvulus (HP:0002580)5.09700999
7Hypobetalipoproteinemia (HP:0003563)5.00328891
8Prolonged partial thromboplastin time (HP:0003645)4.97498234
9Cortical dysplasia (HP:0002539)4.76057054
10Hypoglycemic coma (HP:0001325)4.42399000
11Hyperlipoproteinemia (HP:0010980)4.40979827
12Abnormality of methionine metabolism (HP:0010901)4.32746769
13Fat malabsorption (HP:0002630)4.11630675
14Epidermoid cyst (HP:0200040)4.07509670
15Abnormality of aspartate family amino acid metabolism (HP:0010899)3.94234361
16Hypolipoproteinemia (HP:0010981)3.92899596
17Abnormality of the common coagulation pathway (HP:0010990)3.91208984
18Abnormality of sulfur amino acid metabolism (HP:0004339)3.84563866
19Complement deficiency (HP:0004431)3.83089300
20Hyperammonemia (HP:0001987)3.71435282
21Increased nuchal translucency (HP:0010880)3.65466897
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.62603269
23Hyperglycinemia (HP:0002154)3.55170873
24Hypoalphalipoproteinemia (HP:0003233)3.53840967
25Steatorrhea (HP:0002570)3.52952591
26Abnormality of the intrinsic pathway (HP:0010989)3.51406469
27Ketosis (HP:0001946)3.49481348
28Abnormality of serine family amino acid metabolism (HP:0010894)3.48725030
29Abnormality of glycine metabolism (HP:0010895)3.48725030
30Joint hemorrhage (HP:0005261)3.41729256
31Conjugated hyperbilirubinemia (HP:0002908)3.26073029
32Abnormality of glutamine family amino acid metabolism (HP:0010902)3.24355610
33Papillary thyroid carcinoma (HP:0002895)3.21996443
34Hypoglycemic seizures (HP:0002173)3.19558747
35Chromsome breakage (HP:0040012)3.13993383
36Chromosomal breakage induced by crosslinking agents (HP:0003221)3.08029013
37Abnormal lung lobation (HP:0002101)3.00448455
38Hyperglycinuria (HP:0003108)2.96260064
39Rhabdomyosarcoma (HP:0002859)2.95554408
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.89209318
41Abnormality of complement system (HP:0005339)2.86930508
42Hypercholesterolemia (HP:0003124)2.86439570
43Abnormality of serum amino acid levels (HP:0003112)2.85873023
44Medulloblastoma (HP:0002885)2.77316595
45Thyroid carcinoma (HP:0002890)2.75872019
46Abnormality of chromosome stability (HP:0003220)2.74410088
47Abnormality of fatty-acid metabolism (HP:0004359)2.71834278
48Abnormality of glycolysis (HP:0004366)2.62177680
49Increased serum pyruvate (HP:0003542)2.62177680
50Myocardial infarction (HP:0001658)2.58893177
51Hyperbilirubinemia (HP:0002904)2.56939799
52Ketoacidosis (HP:0001993)2.56263497
53Hypoplastic pelvis (HP:0008839)2.55113455
54Myelodysplasia (HP:0002863)2.53834330
55Delayed CNS myelination (HP:0002188)2.51770531
56Hyperinsulinemic hypoglycemia (HP:0000825)2.51654230
57Large earlobe (HP:0009748)2.47110832
58Nephroblastoma (Wilms tumor) (HP:0002667)2.45049600
59Long clavicles (HP:0000890)2.41536692
60Skin nodule (HP:0200036)2.41415452
61Deep philtrum (HP:0002002)2.41290350
62Symptomatic seizures (HP:0011145)2.40701504
63Termporal pattern (HP:0011008)2.39499692
64Insidious onset (HP:0003587)2.39499692
65Curly hair (HP:0002212)2.38798158
66Abnormality of the labia minora (HP:0012880)2.37460074
67Embryonal renal neoplasm (HP:0011794)2.35946647
68Vascular calcification (HP:0004934)2.35218169
69Neurofibrillary tangles (HP:0002185)2.35068773
70Degeneration of anterior horn cells (HP:0002398)2.34292583
71Abnormality of the anterior horn cell (HP:0006802)2.34292583
72Hyperglycemia (HP:0003074)2.32802154
73Hepatocellular carcinoma (HP:0001402)2.32293937
74Proximal placement of thumb (HP:0009623)2.30998908
75Abnormal hair whorl (HP:0010721)2.30799653
76Cystic hygroma (HP:0000476)2.28809090
77Generalized aminoaciduria (HP:0002909)2.28241472
78Opisthotonus (HP:0002179)2.27798712
79Overlapping toe (HP:0001845)2.27565940
80Acanthocytosis (HP:0001927)2.27327851
81Abnormality of pyrimidine metabolism (HP:0004353)2.25223633
82Spastic paraparesis (HP:0002313)2.24898282
83Aplasia/Hypoplasia of the uvula (HP:0010293)2.23264536
84Protuberant abdomen (HP:0001538)2.21766914
85Freckling (HP:0001480)2.20792072
86Deviation of the thumb (HP:0009603)2.20226992
87Dicarboxylic aciduria (HP:0003215)2.18957493
88Abnormality of dicarboxylic acid metabolism (HP:0010995)2.18957493
89Metabolic acidosis (HP:0001942)2.18787991
90Abnormality of the preputium (HP:0100587)2.16184840
91Small intestinal stenosis (HP:0012848)2.15041361
92Duodenal stenosis (HP:0100867)2.15041361
93Abnormality of nucleobase metabolism (HP:0010932)2.13872701
94Meckel diverticulum (HP:0002245)2.13597129
95Lethargy (HP:0001254)2.13507480
96Cardiovascular calcification (HP:0011915)2.12535486
97Abnormal gallbladder morphology (HP:0012437)2.12322985
98Glioma (HP:0009733)2.11739559
99Spontaneous abortion (HP:0005268)2.11140063
100Abnormality of the astrocytes (HP:0100707)2.10603424
101Astrocytoma (HP:0009592)2.10603424
102Abnormality of chromosome segregation (HP:0002916)2.10436015
103Irritability (HP:0000737)2.09417067
104Abnormality of purine metabolism (HP:0004352)2.08197235
105Cerebral edema (HP:0002181)2.06883159
106Abnormality of the metopic suture (HP:0005556)2.06556610
107Hypophosphatemic rickets (HP:0004912)2.06169197
108Septate vagina (HP:0001153)2.04820255
109Abnormality of the musculature of the pelvis (HP:0001469)2.04679360
110Abnormality of the hip-girdle musculature (HP:0001445)2.04679360
111Sloping forehead (HP:0000340)2.04259161
112Pancreatitis (HP:0001733)2.01568643
113Hydroxyprolinuria (HP:0003080)2.01313541
114Abnormality of proline metabolism (HP:0010907)2.01313541
115Atrophy/Degeneration involving motor neurons (HP:0007373)2.01123176
116Gonadotropin excess (HP:0000837)1.99598713
117Degeneration of the lateral corticospinal tracts (HP:0002314)1.99481706
118Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.99481706
119Parakeratosis (HP:0001036)1.97975431
120Microvesicular hepatic steatosis (HP:0001414)1.97496909
121Bifid tongue (HP:0010297)1.97444449
122Abnormality of urine glucose concentration (HP:0011016)1.97186494
123Glycosuria (HP:0003076)1.97186494
124Spastic diplegia (HP:0001264)1.95836499
125Abnormality of the ileum (HP:0001549)1.95074663
126Abnormality of the duodenum (HP:0002246)1.94281562
127Shoulder girdle muscle weakness (HP:0003547)1.93938634
128Abnormal foot bone ossification (HP:0010675)1.93065898
129Pancreatic islet-cell hyperplasia (HP:0004510)1.91403882
130Blepharitis (HP:0000498)1.90573695
131Mitral stenosis (HP:0001718)1.90248232
132Cafe-au-lait spot (HP:0000957)1.88432637
133Limb hypertonia (HP:0002509)1.87833424
134Birth length less than 3rd percentile (HP:0003561)1.87188850
135Abnormality of the pancreatic islet cells (HP:0006476)1.85552103
136Abnormality of endocrine pancreas physiology (HP:0012093)1.85552103
137Back pain (HP:0003418)1.85124926
138Ependymoma (HP:0002888)1.84408337
139Pheochromocytoma (HP:0002666)1.84025149
140Esophageal varix (HP:0002040)1.83662427
141Facial hemangioma (HP:0000329)1.83375616
142Neoplasm of striated muscle (HP:0009728)1.82742800
143Malnutrition (HP:0004395)1.81775579
144Axonal loss (HP:0003447)1.81638422
145Epiphyseal stippling (HP:0010655)1.81315703
146Late onset (HP:0003584)1.79410883
147Cutis marmorata (HP:0000965)1.79156041
148Increased mean platelet volume (HP:0011877)1.78904549
149Prominent metopic ridge (HP:0005487)1.78842380
150Neuroendocrine neoplasm (HP:0100634)1.78285945
151Abnormality of the phalanges of the hallux (HP:0010057)1.76613976
152Micropenis (HP:0000054)1.76364000
153Combined immunodeficiency (HP:0005387)1.76204246
154Rickets (HP:0002748)1.75588417
155Enlarged kidneys (HP:0000105)1.75468018
156Abnormal cartilage morphology (HP:0002763)1.74708805
157Heterotopia (HP:0002282)1.74317180
158Abnormal enzyme/coenzyme activity (HP:0012379)1.74196928
159Coronal craniosynostosis (HP:0004440)1.74012457
160Neoplasm of the oral cavity (HP:0100649)1.73514836
161Glomerulonephritis (HP:0000099)1.73317605
162Systemic lupus erythematosus (HP:0002725)1.73012159
163Elevated alkaline phosphatase (HP:0003155)1.73012128
164Decreased testicular size (HP:0008734)1.72153484
165Hypochromic microcytic anemia (HP:0004840)1.71141670
166Metaphyseal cupping (HP:0003021)1.70566453
167Median cleft lip (HP:0000161)1.70423192
168Paraparesis (HP:0002385)1.70013180
169Abnormality of macular pigmentation (HP:0008002)1.69728910
170Thickened nuchal skin fold (HP:0000474)1.68942774
171Missing ribs (HP:0000921)1.68564559
172Cholelithiasis (HP:0001081)1.68554996
173Renal cortical cysts (HP:0000803)1.68334981
174Pelvic girdle muscle weakness (HP:0003749)1.68190773
175Abnormality of vitamin metabolism (HP:0100508)1.67942404
176Short tibia (HP:0005736)1.66432013
177Colon cancer (HP:0003003)1.66307235
178Postnatal growth retardation (HP:0008897)1.65411635
179Aplasia/Hypoplasia of the nipples (HP:0006709)1.64121586
180Acute myeloid leukemia (HP:0004808)1.63053194
181Uterine leiomyosarcoma (HP:0002891)1.62660940
182Leiomyosarcoma (HP:0100243)1.62660940
183Aplasia/Hypoplasia of the sternum (HP:0006714)1.62115292
184Transitional cell carcinoma of the bladder (HP:0006740)1.61335666
185Autoamputation (HP:0001218)1.61257658
186Ovarian neoplasm (HP:0100615)1.60893424
187Drooling (HP:0002307)1.59786622
188Postnatal microcephaly (HP:0005484)1.58669410
189Neoplasm of the colon (HP:0100273)1.58492775
190Skull defect (HP:0001362)1.58359804
191Relative macrocephaly (HP:0004482)1.58347514
192Amyotrophic lateral sclerosis (HP:0007354)1.58324498
193Abnormality of the carotid arteries (HP:0005344)1.57906131
194Microglossia (HP:0000171)1.57702999
195Neoplasm of the peripheral nervous system (HP:0100007)1.56453054

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK3.86417084
2SRPK13.65858499
3STK393.28320970
4BMPR1B3.22988728
5LATS13.22598367
6BUB13.18989779
7PBK3.10888976
8WEE13.04769368
9NEK93.01177587
10TSSK62.97791432
11ERBB42.92751910
12NEK12.81689061
13BCR2.77663143
14EPHB12.66465629
15TRIM282.58074712
16CDC72.57803343
17MET2.54789744
18LIMK12.52216350
19ERN12.36870814
20NUAK12.31395486
21TESK22.29174536
22FGFR42.16662054
23OXSR12.07124866
24FGFR21.98889741
25MKNK11.96683281
26INSRR1.96600638
27TAOK31.96226927
28PNCK1.88939078
29PLK31.84835855
30AKT31.60670193
31MST41.55296294
32SIK11.51333978
33STK38L1.50037246
34SIK31.47516707
35MAP3K41.47263551
36BRD41.42252940
37EIF2AK21.42211978
38MKNK21.39442701
39PLK11.31370847
40CSNK1A1L1.30867216
41CLK11.29524838
42FLT31.23328039
43CSNK1G31.22622339
44CDK81.20954275
45ATR1.19780259
46PIK3CG1.17363886
47TIE11.16757259
48RPS6KA41.14909977
49STK31.13844325
50EIF2AK11.12830284
51FRK1.11842767
52PIK3CA1.10061305
53DYRK31.09665675
54WNK41.07158746
55DYRK21.06361201
56MAP3K131.05146718
57EPHB21.04335350
58CCNB11.03996367
59TESK11.03445806
60CSNK1G21.03134929
61ACVR1B1.03084189
62AURKB1.02292460
63ATM1.01608111
64WNK31.00981590
65CSNK1G10.98774876
66PAK30.97708426
67IRAK30.97173244
68CDK90.97078331
69CHEK10.96689211
70ERBB30.95843240
71STK160.95626125
72PASK0.95138596
73CHEK20.95063651
74STK100.92891270
75TRPM70.90044699
76TRIB30.90000192
77CDK70.89488237
78MAP3K20.88152169
79ABL20.86636399
80PAK40.86330364
81SCYL20.83841484
82RAF10.83500293
83YES10.83485573
84NEK20.83466304
85MST1R0.80569504
86PLK40.80494867
87MAP2K70.79995160
88PKN10.79749202
89KSR10.79069962
90OBSCN0.74659586
91MUSK0.74448842
92MAP3K120.74022198
93NTRK10.73259982
94PTK60.72583800
95NEK60.67795860
96CDK30.65141434
97BRSK10.65007547
98CAMK2G0.63810912
99TEC0.60784565
100VRK10.60501855
101IRAK10.59564531
102ERBB20.59531254
103PRKCQ0.58516831
104EPHA30.58107084
105CDK10.57833813
106KSR20.56540201
107GSK3A0.54284654
108CAMK1D0.54251637
109TGFBR10.52473190
110SGK2230.52444530
111SGK4940.52444530
112ROCK20.52309186
113CDK20.52213725
114MAP3K80.51947711
115IGF1R0.51870976
116LRRK20.49442959
117FGFR10.46924624
118MOS0.46886027
119CSK0.46327340
120MAP2K20.46018048
121PRKAA20.45426104
122PLK20.44705909
123MAP2K10.44217929
124TTK0.43760042
125JAK20.43222082
126FER0.42410841
127CDK180.41620395
128MAPKAPK50.40572380
129CDK60.39103265
130PAK20.39039945
131MELK0.38710082
132MAP4K20.37369442
133BMPR20.36714384
134PRKACB0.36663117
135CSNK2A20.36579986
136PRKD10.36112181
137CSNK2A10.35869933
138PTK20.35824082
139PRKDC0.35324586
140CSNK1E0.35184228
141MINK10.33201970
142EIF2AK30.31963916
143RPS6KB10.30963834
144ZAK0.30184079
145CDK150.30114600
146AURKA0.29784469
147CDK120.28782069
148MAP3K140.27898396
149CDK140.27861582
150CAMK2D0.27851677
151BRSK20.27648847
152CAMK1G0.27500506
153CDK11A0.27417037
154CAMKK20.27319381
155BRAF0.26772858
156MAPK110.26663423
157MAP3K100.26263197
158ABL10.26182659
159ARAF0.25741107
160ICK0.24025224
161CAMK2B0.23860236
162CASK0.23255928

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.69651463
2Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.68057922
3Non-homologous end-joining_Homo sapiens_hsa034503.53623749
4Mismatch repair_Homo sapiens_hsa034303.43776776
5Nitrogen metabolism_Homo sapiens_hsa009103.41272986
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.22611275
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.21899873
8DNA replication_Homo sapiens_hsa030303.12481987
9Proteasome_Homo sapiens_hsa030502.90507213
10Steroid biosynthesis_Homo sapiens_hsa001002.87162409
11Cell cycle_Homo sapiens_hsa041102.75112639
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.63025119
13RNA transport_Homo sapiens_hsa030132.58716424
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.57731783
15Nucleotide excision repair_Homo sapiens_hsa034202.45869317
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.44847762
17Fatty acid degradation_Homo sapiens_hsa000712.40737265
18Fanconi anemia pathway_Homo sapiens_hsa034602.39051680
19Complement and coagulation cascades_Homo sapiens_hsa046102.36219743
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.35809740
21Tryptophan metabolism_Homo sapiens_hsa003802.35557322
22Arginine biosynthesis_Homo sapiens_hsa002202.32774075
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.30050525
24Spliceosome_Homo sapiens_hsa030402.28907844
25Fatty acid elongation_Homo sapiens_hsa000622.27431411
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.23479847
27Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.15090996
28Homologous recombination_Homo sapiens_hsa034402.12573121
29Basal transcription factors_Homo sapiens_hsa030222.09690871
30Histidine metabolism_Homo sapiens_hsa003402.07306718
31Pentose and glucuronate interconversions_Homo sapiens_hsa000402.03491575
32Base excision repair_Homo sapiens_hsa034101.99916500
33Peroxisome_Homo sapiens_hsa041461.99342531
34Butanoate metabolism_Homo sapiens_hsa006501.95912882
35Fatty acid metabolism_Homo sapiens_hsa012121.95025831
36Sulfur metabolism_Homo sapiens_hsa009201.94455285
37Steroid hormone biosynthesis_Homo sapiens_hsa001401.93180103
38Propanoate metabolism_Homo sapiens_hsa006401.88443130
39mRNA surveillance pathway_Homo sapiens_hsa030151.82607648
40Maturity onset diabetes of the young_Homo sapiens_hsa049501.78663075
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.77528113
42RNA degradation_Homo sapiens_hsa030181.76365682
43Chemical carcinogenesis_Homo sapiens_hsa052041.76251950
44Folate biosynthesis_Homo sapiens_hsa007901.68016569
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55898982
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.52777878
47PPAR signaling pathway_Homo sapiens_hsa033201.51802929
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.51242146
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50120215
50Retinol metabolism_Homo sapiens_hsa008301.49585792
51Protein export_Homo sapiens_hsa030601.49382236
52Caffeine metabolism_Homo sapiens_hsa002321.46184473
53Drug metabolism - other enzymes_Homo sapiens_hsa009831.43706073
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.38964929
55RNA polymerase_Homo sapiens_hsa030201.38834682
56beta-Alanine metabolism_Homo sapiens_hsa004101.35486221
57Thyroid cancer_Homo sapiens_hsa052161.35394592
58Pyruvate metabolism_Homo sapiens_hsa006201.33769393
59Arginine and proline metabolism_Homo sapiens_hsa003301.32351912
60Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.32036947
61Staphylococcus aureus infection_Homo sapiens_hsa051501.30791322
62Oocyte meiosis_Homo sapiens_hsa041141.30086779
63Pyrimidine metabolism_Homo sapiens_hsa002401.29752531
64Tyrosine metabolism_Homo sapiens_hsa003501.28924425
65Selenocompound metabolism_Homo sapiens_hsa004501.28911814
66p53 signaling pathway_Homo sapiens_hsa041151.28689829
67Starch and sucrose metabolism_Homo sapiens_hsa005001.23732531
68Phenylalanine metabolism_Homo sapiens_hsa003601.20204663
69Cysteine and methionine metabolism_Homo sapiens_hsa002701.19835389
702-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.15656294
71Biosynthesis of amino acids_Homo sapiens_hsa012301.08550853
72Fat digestion and absorption_Homo sapiens_hsa049751.03547850
73Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.99489605
74Glutathione metabolism_Homo sapiens_hsa004800.98727077
75Carbon metabolism_Homo sapiens_hsa012000.98610266
76Vitamin B6 metabolism_Homo sapiens_hsa007500.97318647
77Colorectal cancer_Homo sapiens_hsa052100.95385081
78Adherens junction_Homo sapiens_hsa045200.95260646
79Bile secretion_Homo sapiens_hsa049760.92268064
80Vitamin digestion and absorption_Homo sapiens_hsa049770.87598454
81Purine metabolism_Homo sapiens_hsa002300.84399086
82Pancreatic cancer_Homo sapiens_hsa052120.78506964
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.72747977
84ABC transporters_Homo sapiens_hsa020100.71832012
85Fatty acid biosynthesis_Homo sapiens_hsa000610.70542285
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.70350685
87Linoleic acid metabolism_Homo sapiens_hsa005910.69247979
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.68899113
89Viral carcinogenesis_Homo sapiens_hsa052030.68599058
90MicroRNAs in cancer_Homo sapiens_hsa052060.67867981
91Epstein-Barr virus infection_Homo sapiens_hsa051690.64732751
92Chronic myeloid leukemia_Homo sapiens_hsa052200.64090897
93Metabolic pathways_Homo sapiens_hsa011000.55864150
94Lysine degradation_Homo sapiens_hsa003100.55816352
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54152005
96Ether lipid metabolism_Homo sapiens_hsa005650.53350020
97Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.53308985
98Hippo signaling pathway_Homo sapiens_hsa043900.51791319
99Shigellosis_Homo sapiens_hsa051310.51695297
100Central carbon metabolism in cancer_Homo sapiens_hsa052300.51656729
101Pentose phosphate pathway_Homo sapiens_hsa000300.51484304
102Sulfur relay system_Homo sapiens_hsa041220.51481362
103Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.49722304
104Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.49630945
105Hepatitis B_Homo sapiens_hsa051610.47281557
106Endometrial cancer_Homo sapiens_hsa052130.47182861
107One carbon pool by folate_Homo sapiens_hsa006700.47112843
108Glycerolipid metabolism_Homo sapiens_hsa005610.46778797
109Legionellosis_Homo sapiens_hsa051340.45975119
110Non-small cell lung cancer_Homo sapiens_hsa052230.43536665
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43385250
112Wnt signaling pathway_Homo sapiens_hsa043100.42363629
113Measles_Homo sapiens_hsa051620.41885390
114Basal cell carcinoma_Homo sapiens_hsa052170.40970516
115Small cell lung cancer_Homo sapiens_hsa052220.40599818
116Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.38742494
117Cyanoamino acid metabolism_Homo sapiens_hsa004600.38186732
118Herpes simplex infection_Homo sapiens_hsa051680.36032667
119Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.32088920
120Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31072430
121Renal cell carcinoma_Homo sapiens_hsa052110.30070919
122HTLV-I infection_Homo sapiens_hsa051660.29195023
123Transcriptional misregulation in cancer_Homo sapiens_hsa052020.27426977
124Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.25006429
125Prion diseases_Homo sapiens_hsa050200.24672782
126Arachidonic acid metabolism_Homo sapiens_hsa005900.24628055
127Bladder cancer_Homo sapiens_hsa052190.22925260
128Sphingolipid metabolism_Homo sapiens_hsa006000.21122767
129Hedgehog signaling pathway_Homo sapiens_hsa043400.21024016
130Notch signaling pathway_Homo sapiens_hsa043300.20539487
131N-Glycan biosynthesis_Homo sapiens_hsa005100.20378007
132Ovarian steroidogenesis_Homo sapiens_hsa049130.19366066
133Axon guidance_Homo sapiens_hsa043600.18337254
134Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.18249500
135Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.17737630
136Proteoglycans in cancer_Homo sapiens_hsa052050.17512172
137* Lysosome_Homo sapiens_hsa041420.14920476
138Melanoma_Homo sapiens_hsa052180.14543200
139Phagosome_Homo sapiens_hsa041450.13738485
140Vibrio cholerae infection_Homo sapiens_hsa051100.12775678
141Glycerophospholipid metabolism_Homo sapiens_hsa005640.10013934
142Insulin resistance_Homo sapiens_hsa049310.07546076
143Fructose and mannose metabolism_Homo sapiens_hsa000510.04625469
144Galactose metabolism_Homo sapiens_hsa000520.04508458
145Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.04470922
146TGF-beta signaling pathway_Homo sapiens_hsa043500.00132325
147Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1176561
148Prostate cancer_Homo sapiens_hsa05215-0.1134174
149ECM-receptor interaction_Homo sapiens_hsa04512-0.0988681
150Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0922094
151Hepatitis C_Homo sapiens_hsa05160-0.0756650
152AMPK signaling pathway_Homo sapiens_hsa04152-0.0739195
153Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0476087
154Adipocytokine signaling pathway_Homo sapiens_hsa04920-0.0433350
155Tight junction_Homo sapiens_hsa04530-0.0401725
156Regulation of autophagy_Homo sapiens_hsa04140-0.0069592

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