SHPK

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 has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.43139812
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.43139812
3L-phenylalanine metabolic process (GO:0006558)7.12338447
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.12338447
5aromatic amino acid family catabolic process (GO:0009074)6.70760066
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.24672931
7tryptophan catabolic process (GO:0006569)6.06117182
8indole-containing compound catabolic process (GO:0042436)6.06117182
9indolalkylamine catabolic process (GO:0046218)6.06117182
10kynurenine metabolic process (GO:0070189)5.94358601
11bile acid biosynthetic process (GO:0006699)5.77011594
12tryptophan metabolic process (GO:0006568)5.70236346
13alpha-linolenic acid metabolic process (GO:0036109)5.67341540
14glyoxylate metabolic process (GO:0046487)5.63735012
15urea cycle (GO:0000050)5.53895034
16urea metabolic process (GO:0019627)5.53895034
17high-density lipoprotein particle remodeling (GO:0034375)5.42732930
18peptidyl-glutamic acid carboxylation (GO:0017187)5.35454555
19protein carboxylation (GO:0018214)5.35454555
20sulfur amino acid catabolic process (GO:0000098)5.32135401
21cysteine metabolic process (GO:0006534)5.31108208
22negative regulation of fibrinolysis (GO:0051918)5.30673220
23regulation of fibrinolysis (GO:0051917)5.11275350
24nitrogen cycle metabolic process (GO:0071941)5.09322899
25serine family amino acid catabolic process (GO:0009071)5.08242895
26complement activation, alternative pathway (GO:0006957)5.06615649
27regulation of protein activation cascade (GO:2000257)5.01231537
28bile acid metabolic process (GO:0008206)4.99893854
29fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.88783279
30aromatic amino acid family metabolic process (GO:0009072)4.86280460
31regulation of triglyceride catabolic process (GO:0010896)4.80233751
32L-serine metabolic process (GO:0006563)4.78157080
33regulation of cholesterol esterification (GO:0010872)4.74554730
34reverse cholesterol transport (GO:0043691)4.73968314
35lysine metabolic process (GO:0006553)4.73709993
36lysine catabolic process (GO:0006554)4.73709993
37homocysteine metabolic process (GO:0050667)4.68841950
38regulation of complement activation (GO:0030449)4.67684522
39tyrosine metabolic process (GO:0006570)4.65911616
40plasma lipoprotein particle remodeling (GO:0034369)4.62775360
41protein-lipid complex remodeling (GO:0034368)4.62775360
42macromolecular complex remodeling (GO:0034367)4.62775360
43alpha-amino acid catabolic process (GO:1901606)4.58706902
44negative regulation of sterol transport (GO:0032372)4.56139878
45negative regulation of cholesterol transport (GO:0032375)4.56139878
46triglyceride homeostasis (GO:0070328)4.56065654
47acylglycerol homeostasis (GO:0055090)4.56065654
48amino-acid betaine metabolic process (GO:0006577)4.55658703
49cellular ketone body metabolic process (GO:0046950)4.52699185
50phospholipid efflux (GO:0033700)4.51532968
51bile acid and bile salt transport (GO:0015721)4.34619622
52plasma lipoprotein particle clearance (GO:0034381)4.33736114
53glycine metabolic process (GO:0006544)4.33432582
54indolalkylamine metabolic process (GO:0006586)4.28892216
55coenzyme catabolic process (GO:0009109)4.26918100
56cellular amino acid catabolic process (GO:0009063)4.23872839
57imidazole-containing compound metabolic process (GO:0052803)4.18596518
58amine catabolic process (GO:0009310)4.17175846
59cellular biogenic amine catabolic process (GO:0042402)4.17175846
60DNA strand elongation involved in DNA replication (GO:0006271)4.16198077
61glutamate metabolic process (GO:0006536)4.16173203
62cellular glucuronidation (GO:0052695)4.16060853
63cholesterol efflux (GO:0033344)4.13791477
64ethanol oxidation (GO:0006069)4.13486926
65serine family amino acid metabolic process (GO:0009069)4.12993379
66drug catabolic process (GO:0042737)4.12395885
67benzene-containing compound metabolic process (GO:0042537)4.07084837
68cellular modified amino acid catabolic process (GO:0042219)4.02638163
69DNA strand elongation (GO:0022616)4.02314099
70histone arginine methylation (GO:0034969)3.98091207
71dicarboxylic acid biosynthetic process (GO:0043650)3.92093509
72ketone body metabolic process (GO:1902224)3.91855427
73plasma lipoprotein particle assembly (GO:0034377)3.91400122
74arginine metabolic process (GO:0006525)3.89990428
75serine family amino acid biosynthetic process (GO:0009070)3.88631739
76peptidyl-arginine omega-N-methylation (GO:0035247)3.83913098
77low-density lipoprotein particle remodeling (GO:0034374)3.82509381
78aldehyde catabolic process (GO:0046185)3.81105915
79fibrinolysis (GO:0042730)3.80369921
80short-chain fatty acid metabolic process (GO:0046459)3.79565071
81DNA unwinding involved in DNA replication (GO:0006268)3.77649937
82positive regulation of lipoprotein lipase activity (GO:0051006)3.77598696
83positive regulation of triglyceride lipase activity (GO:0061365)3.77598696
84DNA replication checkpoint (GO:0000076)3.77232381
85carboxylic acid catabolic process (GO:0046395)3.74344199
86organic acid catabolic process (GO:0016054)3.74344199
87positive regulation of lipid catabolic process (GO:0050996)3.73511665
88regulation of cholesterol homeostasis (GO:2000188)3.72614394
89uronic acid metabolic process (GO:0006063)3.69932696
90glucuronate metabolic process (GO:0019585)3.69932696
91cholesterol homeostasis (GO:0042632)3.69669850
92acetyl-CoA metabolic process (GO:0006084)3.69315023
93negative regulation of lipase activity (GO:0060192)3.68067615
94phospholipid homeostasis (GO:0055091)3.68011235
95blood coagulation, intrinsic pathway (GO:0007597)3.65569416
96cofactor catabolic process (GO:0051187)3.64869056
97very-low-density lipoprotein particle assembly (GO:0034379)3.64533022
98sterol homeostasis (GO:0055092)3.63972182
99regulation of bile acid biosynthetic process (GO:0070857)3.62764279
100establishment of integrated proviral latency (GO:0075713)3.58475251
101complement activation, classical pathway (GO:0006958)3.57391544
102mitochondrial RNA metabolic process (GO:0000959)3.55329290
103complement activation (GO:0006956)3.54380067
104protein activation cascade (GO:0072376)3.54176729
105flavonoid metabolic process (GO:0009812)3.54174469
106protein-lipid complex assembly (GO:0065005)3.53731988
107DNA replication initiation (GO:0006270)3.53478369
108plasma lipoprotein particle organization (GO:0071827)3.53019446
109drug transmembrane transport (GO:0006855)3.52909648
1102-oxoglutarate metabolic process (GO:0006103)3.51416817
111ribosomal small subunit assembly (GO:0000028)3.50216443
112regulation of translational fidelity (GO:0006450)3.47672060
113DNA strand renaturation (GO:0000733)3.47529102
114peptidyl-arginine N-methylation (GO:0035246)3.47229029
115peptidyl-arginine methylation (GO:0018216)3.47229029
116regulation of gene silencing by RNA (GO:0060966)3.44129252
117regulation of posttranscriptional gene silencing (GO:0060147)3.44129252
118regulation of gene silencing by miRNA (GO:0060964)3.44129252
119telomere maintenance via semi-conservative replication (GO:0032201)3.39578081
120somatic diversification of immune receptors via somatic mutation (GO:0002566)3.37757609
121somatic hypermutation of immunoglobulin genes (GO:0016446)3.37757609
122chromatin remodeling at centromere (GO:0031055)3.23684517
123protein localization to chromosome, centromeric region (GO:0071459)3.23413136
124formation of translation preinitiation complex (GO:0001731)3.21350481
125protein localization to kinetochore (GO:0034501)3.20802563
126nucleobase biosynthetic process (GO:0046112)3.17879064
127DNA replication-dependent nucleosome organization (GO:0034723)3.17014125
128DNA replication-dependent nucleosome assembly (GO:0006335)3.17014125
129CENP-A containing nucleosome assembly (GO:0034080)3.13357067
130heterochromatin organization (GO:0070828)3.11439739
131proline biosynthetic process (GO:0006561)3.10523890
132mitotic sister chromatid segregation (GO:0000070)3.07321594
133mitotic metaphase plate congression (GO:0007080)3.03722818
134maturation of SSU-rRNA (GO:0030490)2.95733671
135cell fate commitment involved in formation of primary germ layer (GO:0060795)2.95138079
136peptidyl-histidine modification (GO:0018202)2.94114911
137purine nucleobase biosynthetic process (GO:0009113)2.85862920
138spliceosomal snRNP assembly (GO:0000387)2.84744358
139IMP biosynthetic process (GO:0006188)2.84092544
140proline metabolic process (GO:0006560)2.82286519
141telomere maintenance via recombination (GO:0000722)2.81630801
142mitotic chromosome condensation (GO:0007076)2.81165296
143chromatin assembly (GO:0031497)2.80200901
144replication fork processing (GO:0031297)2.77315461
145ncRNA 3-end processing (GO:0043628)2.73545291
146rRNA transcription (GO:0009303)2.73315281
147tRNA aminoacylation for protein translation (GO:0006418)2.72803513
148metaphase plate congression (GO:0051310)2.72744470
149base-excision repair (GO:0006284)2.70807484
150protein complex localization (GO:0031503)2.70582064
151pseudouridine synthesis (GO:0001522)2.69673504
152tRNA aminoacylation (GO:0043039)2.69335051
153amino acid activation (GO:0043038)2.69335051
154negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.68620862
155viral mRNA export from host cell nucleus (GO:0046784)2.67186065
156mitotic recombination (GO:0006312)2.65072588
157DNA replication-independent nucleosome assembly (GO:0006336)2.61025971
158DNA replication-independent nucleosome organization (GO:0034724)2.61025971
159sister chromatid segregation (GO:0000819)2.57611542
160regulation of helicase activity (GO:0051095)2.57332424
161establishment of viral latency (GO:0019043)2.56154387
162tRNA methylation (GO:0030488)2.54793990
163mitotic nuclear envelope disassembly (GO:0007077)2.53010850
164transcription-coupled nucleotide-excision repair (GO:0006283)2.52997659
165maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.50870660
166nuclear pore complex assembly (GO:0051292)2.50698687
167transcription from mitochondrial promoter (GO:0006390)2.49551872
168tetrahydrofolate metabolic process (GO:0046653)2.49513012
169nuclear pore organization (GO:0006999)2.49145722
170folic acid-containing compound biosynthetic process (GO:0009396)2.49001968
171IMP metabolic process (GO:0046040)2.48677159
172chromatin assembly or disassembly (GO:0006333)2.47533142
173biotin metabolic process (GO:0006768)2.47265329
174folic acid metabolic process (GO:0046655)2.45089161
175regulation of mitochondrial translation (GO:0070129)2.44860291
176DNA geometric change (GO:0032392)2.44429757
177maturation of 5.8S rRNA (GO:0000460)2.43949413
178regulation of double-strand break repair via homologous recombination (GO:0010569)2.42985703
179DNA duplex unwinding (GO:0032508)2.42623172
180negative regulation of mRNA processing (GO:0050686)2.42119917
181histone exchange (GO:0043486)2.41794127
182telomere maintenance via telomere lengthening (GO:0010833)2.41168228
183mitochondrial DNA metabolic process (GO:0032042)2.39505548
184DNA double-strand break processing (GO:0000729)2.39411911
185ribosome biogenesis (GO:0042254)2.39248132
186nucleotide-excision repair, DNA gap filling (GO:0006297)2.39000703
187regulation of nuclear cell cycle DNA replication (GO:0033262)2.38000542
188pre-miRNA processing (GO:0031054)2.37948419
189ATP-dependent chromatin remodeling (GO:0043044)2.36958970
190negative regulation of RNA splicing (GO:0033119)2.36081916
191ribosomal small subunit biogenesis (GO:0042274)2.36065523
192tRNA modification (GO:0006400)2.33194430

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.25707154
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.11856794
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.73776619
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.41096630
5E2F7_22180533_ChIP-Seq_HELA_Human6.26745487
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.14982858
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.08065251
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.03244647
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.99630294
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.92401083
11MYC_18555785_ChIP-Seq_MESCs_Mouse3.72038179
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.25263448
13HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.11093441
14* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.98649880
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.88836333
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.77606179
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.72711437
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.72107902
19FOXM1_23109430_ChIP-Seq_U2OS_Human2.71246269
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.63270035
21ETS1_20019798_ChIP-Seq_JURKAT_Human2.53722808
22GABP_17652178_ChIP-ChIP_JURKAT_Human2.52001357
23XRN2_22483619_ChIP-Seq_HELA_Human2.49776226
24CREB1_15753290_ChIP-ChIP_HEK293T_Human2.49144639
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.47569191
26NELFA_20434984_ChIP-Seq_ESCs_Mouse2.37570555
27NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.35027056
28EST1_17652178_ChIP-ChIP_JURKAT_Human2.33898406
29MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.31069784
30THAP11_20581084_ChIP-Seq_MESCs_Mouse2.29145279
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.21289616
32TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.16790944
33E2F1_18555785_ChIP-Seq_MESCs_Mouse2.16723149
34TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.10261624
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.07668170
36GABP_19822575_ChIP-Seq_HepG2_Human2.06140655
37HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.02628324
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.6346816
39TTF2_22483619_ChIP-Seq_HELA_Human1.98659482
40E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.97346939
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.97118146
42DCP1A_22483619_ChIP-Seq_HELA_Human1.94367616
43TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.93751825
44CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.93616367
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.91587895
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.87179653
47MYCN_18555785_ChIP-Seq_MESCs_Mouse1.86481944
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.80509603
49MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.79228063
50FOXP3_21729870_ChIP-Seq_TREG_Human1.78702998
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.78544653
52CLOCK_20551151_ChIP-Seq_293T_Human1.70767689
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.70118687
54PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.68978729
55HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.68487951
56FOXA2_19822575_ChIP-Seq_HepG2_Human1.60119101
57YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59831411
58GATA1_22025678_ChIP-Seq_K562_Human1.59062151
59ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.55969327
60AR_21909140_ChIP-Seq_LNCAP_Human1.54976760
61KDM5A_27292631_Chip-Seq_BREAST_Human1.49159600
62NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.45015339
63STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.43943449
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.43507716
65DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.43314495
66HTT_18923047_ChIP-ChIP_STHdh_Human1.42606239
67SOX2_18555785_ChIP-Seq_MESCs_Mouse1.41807352
68* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40716624
69VDR_23849224_ChIP-Seq_CD4+_Human1.40149308
70KLF4_18555785_ChIP-Seq_MESCs_Mouse1.35931043
71STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.34735100
72MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.34332555
73CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.32753180
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.30060333
75KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.29284286
76* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.26992057
77PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25424281
78KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.23248020
79SOX2_16153702_ChIP-ChIP_HESCs_Human1.23143786
80FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21246732
81THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.18642493
82FOXP1_21924763_ChIP-Seq_HESCs_Human1.16217761
83* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15512580
84DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.14209764
85SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.14136301
86SOX2_27498859_Chip-Seq_STOMACH_Mouse1.11367152
87SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.10880982
88IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.10628389
89ELK1_19687146_ChIP-ChIP_HELA_Human1.10190524
90MYC_18940864_ChIP-ChIP_HL60_Human1.09761563
91NANOG_16153702_ChIP-ChIP_HESCs_Human1.08987244
92CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.08590482
93IRF1_19129219_ChIP-ChIP_H3396_Human1.08546393
94IRF8_22096565_ChIP-ChIP_GC-B_Human1.07987926
95HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07958138
96KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.06841241
97ELF1_17652178_ChIP-ChIP_JURKAT_Human1.05533153
98CIITA_25753668_ChIP-Seq_RAJI_Human1.05481076
99ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05346909
100BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.04001680
101TP63_19390658_ChIP-ChIP_HaCaT_Human1.03720573
102NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.03567981
103CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.03274562
104POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.00701231
105* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.00510583
106CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00247276
107RBPJ_22232070_ChIP-Seq_NCS_Mouse0.99311484
108NANOG_21062744_ChIP-ChIP_HESCs_Human0.97608102
109TCF3_18692474_ChIP-Seq_MEFs_Mouse0.96883593
110CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.96287149
111CTCF_18555785_ChIP-Seq_MESCs_Mouse0.95949119
112SOX2_18692474_ChIP-Seq_MEFs_Mouse0.95861908
113TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.94274028
114ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94179393
115TET1_21451524_ChIP-Seq_MESCs_Mouse0.93921721
116PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93736348
117NOTCH1_21737748_ChIP-Seq_TLL_Human0.93491493
118PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.93266342
119GATA4_25053715_ChIP-Seq_YYC3_Human0.93143594
120ESR1_15608294_ChIP-ChIP_MCF-7_Human0.88095405
121PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87741780
122* RARG_19884340_ChIP-ChIP_MEFs_Mouse0.83649181
123TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.81385952
124SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80359796
125CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.79828405
126ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.78905764
127Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.78422041
128SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.78221876
129NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.77246932
130RARA_24833708_ChIP-Seq_LIVER_Mouse0.75753758
131AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.75158684
132BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75117636
133ESR2_21235772_ChIP-Seq_MCF-7_Human0.74824696
134AUTS2_25519132_ChIP-Seq_293T-REX_Human0.74214266
135ZNF263_19887448_ChIP-Seq_K562_Human0.73577688
136KAP1_22055183_ChIP-Seq_ESCs_Mouse0.69239368
137LXR_22292898_ChIP-Seq_THP-1_Human0.66554335
138RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.65630128
139SALL4_18804426_ChIP-ChIP_XEN_Mouse0.65393487
140* RARB_24833708_ChIP-Seq_LIVER_Mouse0.64566556
141RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62649254
142NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.61677531
143BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60626475
144NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.60011448
145NRF2_20460467_ChIP-Seq_MEFs_Mouse0.60011448
146CEBPB_22108803_ChIP-Seq_LS180_Human0.57522803
147FOXA1_25552417_ChIP-Seq_VCAP_Human0.56935897
148FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.56377355
149GATA1_19941827_ChIP-Seq_MEL_Mouse0.56095529
150EGR1_19032775_ChIP-ChIP_M12_Human0.55695867
151PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.55328826
152FOXO3_23340844_ChIP-Seq_DLD1_Human0.54728879
153ESR1_21235772_ChIP-Seq_MCF-7_Human0.53670320
154FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.53493563
155GATA1_19941826_ChIP-Seq_K562_Human0.53354311
156GATA6_25053715_ChIP-Seq_YYC3_Human0.52661107
157MYC_19915707_ChIP-ChIP_AK7_Human0.51799149
158* AR_20517297_ChIP-Seq_VCAP_Human0.51347845
159GATA2_19941826_ChIP-Seq_K562_Human0.50750917
160PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.50701232
161FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50637175
162CDX2_20551321_ChIP-Seq_CACO-2_Human0.49961568
163STAT3_1855785_ChIP-Seq_MESCs_Mouse0.49670871
164PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.48868239
165FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.48456240
166ESET_19884257_ChIP-Seq_ESCs_Mouse0.48029573
167PPAR_26484153_Chip-Seq_NCI-H1993_Human0.46239734
168P53_21459846_ChIP-Seq_SAOS-2_Human0.46023765
169GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.44747985
170CBP_21632823_ChIP-Seq_H3396_Human0.44600693
171SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.44518988
172STAT1_17558387_ChIP-Seq_HELA_Human0.43756025
173PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.41461137
174NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.39872584
175TAF2_19829295_ChIP-Seq_ESCs_Human0.39872244
176TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.39571491
177SOX2_20726797_ChIP-Seq_SW620_Human0.39478779
178ERG_20517297_ChIP-Seq_VCAP_Human0.39366305
179BRD4_27068464_Chip-Seq_AML-cells_Mouse0.38632935
180CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.38446886
181SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38202198
182GATA3_24758297_ChIP-Seq_MCF-7_Human0.38109626
183ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.36891085
184RACK7_27058665_Chip-Seq_MCF-7_Human0.36703305
185SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.36597970
186MYC_27129775_Chip-Seq_CORNEA_Mouse0.36114885
187NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.35810997
188BCAT_22108803_ChIP-Seq_LS180_Human0.35375806
189EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.35355087
190GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.35170171

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.36509249
2MP0005360_urolithiasis7.49434647
3MP0005085_abnormal_gallbladder_physiolo6.25730397
4MP0005365_abnormal_bile_salt6.06499148
5MP0008875_abnormal_xenobiotic_pharmacok5.07511847
6MP0003806_abnormal_nucleotide_metabolis4.13413229
7MP0003252_abnormal_bile_duct3.89945640
8MP0003693_abnormal_embryo_hatching3.75183904
9MP0010329_abnormal_lipoprotein_level3.57160792
10MP0004957_abnormal_blastocyst_morpholog3.51303893
11MP0009840_abnormal_foam_cell3.28735381
12MP0003111_abnormal_nucleus_morphology3.21227426
13MP0010094_abnormal_chromosome_stability3.15785049
14MP0005083_abnormal_biliary_tract2.99667894
15MP0003195_calcinosis2.80974747
16MP0005332_abnormal_amino_acid2.77561345
17MP0010030_abnormal_orbit_morphology2.77101578
18MP0001666_abnormal_nutrient_absorption2.71375010
19MP0008932_abnormal_embryonic_tissue2.53860774
20MP0003077_abnormal_cell_cycle2.48624515
21MP0003191_abnormal_cellular_cholesterol2.35628691
22MP0000537_abnormal_urethra_morphology2.21520175
23MP0000609_abnormal_liver_physiology2.18842592
24MP0008058_abnormal_DNA_repair2.13314071
25MP0002118_abnormal_lipid_homeostasis2.12670234
26MP0004019_abnormal_vitamin_homeostasis2.11956398
27MP0002138_abnormal_hepatobiliary_system2.04578254
28MP0003890_abnormal_embryonic-extraembry1.99369842
29MP0000566_synostosis1.94219500
30MP0004133_heterotaxia1.92613541
31MP0003868_abnormal_feces_composition1.92111581
32MP0003941_abnormal_skin_development1.88623330
33MP0005319_abnormal_enzyme/_coenzyme1.82497143
34MP0001293_anophthalmia1.82257374
35MP0001730_embryonic_growth_arrest1.79339938
36MP0003119_abnormal_digestive_system1.75219171
37MP0001764_abnormal_homeostasis1.68039508
38MP0001672_abnormal_embryogenesis/_devel1.63639283
39MP0005380_embryogenesis_phenotype1.63639283
40MP0003136_yellow_coat_color1.60217237
41MP0005584_abnormal_enzyme/coenzyme_acti1.59464753
42MP0008877_abnormal_DNA_methylation1.57418300
43MP0002085_abnormal_embryonic_tissue1.55340960
44MP0002697_abnormal_eye_size1.55225982
45MP0002084_abnormal_developmental_patter1.51905718
46MP0003567_abnormal_fetal_cardiomyocyte1.50901428
47MP0009379_abnormal_foot_pigmentation1.50683156
48MP0003315_abnormal_perineum_morphology1.50048114
49MP0001849_ear_inflammation1.46780258
50MP0006292_abnormal_olfactory_placode1.44832600
51MP0002653_abnormal_ependyma_morphology1.44399023
52MP0003937_abnormal_limbs/digits/tail_de1.43834158
53MP0003984_embryonic_growth_retardation1.42136188
54MP0004264_abnormal_extraembryonic_tissu1.40959184
55MP0009697_abnormal_copulation1.40050716
56MP0005451_abnormal_body_composition1.38864791
57MP0002088_abnormal_embryonic_growth/wei1.37506397
58MP0001697_abnormal_embryo_size1.36861656
59MP0009643_abnormal_urine_homeostasis1.36463748
60MP0005501_abnormal_skin_physiology1.33932467
61MP0000350_abnormal_cell_proliferation1.32993872
62MP0003878_abnormal_ear_physiology1.30867933
63MP0005377_hearing/vestibular/ear_phenot1.30867933
64MP0008007_abnormal_cellular_replicative1.29745060
65MP0002080_prenatal_lethality1.29484655
66MP0002938_white_spotting1.26705613
67MP0003011_delayed_dark_adaptation1.25599275
68MP0003186_abnormal_redox_activity1.24620925
69MP0003786_premature_aging1.23414473
70MP0003123_paternal_imprinting1.22973137
71MP0003656_abnormal_erythrocyte_physiolo1.20743505
72MP0002111_abnormal_tail_morphology1.20327016
73MP0003705_abnormal_hypodermis_morpholog1.20253161
74MP0000598_abnormal_liver_morphology1.18275634
75MP0004233_abnormal_muscle_weight1.17264453
76MP0008995_early_reproductive_senescence1.14676771
77MP0004197_abnormal_fetal_growth/weight/1.14248269
78MP0000358_abnormal_cell_content/1.13277043
79MP0005647_abnormal_sex_gland1.09695600
80MP0000604_amyloidosis1.08619459
81MP0002092_abnormal_eye_morphology1.06048760
82MP0009764_decreased_sensitivity_to1.06042458
83MP0010352_gastrointestinal_tract_polyps1.04477610
84MP0005394_taste/olfaction_phenotype1.03301411
85MP0005499_abnormal_olfactory_system1.03301411
86MP0002086_abnormal_extraembryonic_tissu1.01207726
87MP0002210_abnormal_sex_determination1.00327234
88MP0005636_abnormal_mineral_homeostasis0.99216543
89MP0009763_increased_sensitivity_to0.99086419
90MP0000049_abnormal_middle_ear0.98216218
91MP0003861_abnormal_nervous_system0.97177802
92MP0005076_abnormal_cell_differentiation0.93649536
93MP0001529_abnormal_vocalization0.93324273
94MP0005670_abnormal_white_adipose0.91593863
95MP0003121_genomic_imprinting0.91291015
96MP0010307_abnormal_tumor_latency0.90911785
97MP0001286_abnormal_eye_development0.90381696
98MP0008469_abnormal_protein_level0.90008769
99MP0002254_reproductive_system_inflammat0.89027878
100MP0009642_abnormal_blood_homeostasis0.89004831
101MP0010368_abnormal_lymphatic_system0.87053055
102MP0000313_abnormal_cell_death0.86503507
103MP0002233_abnormal_nose_morphology0.85797073
104MP0002078_abnormal_glucose_homeostasis0.85174125
105MP0005408_hypopigmentation0.84441146
106MP0008057_abnormal_DNA_replication0.83702789
107MP0000678_abnormal_parathyroid_gland0.82936356
108MP0006036_abnormal_mitochondrial_physio0.82753521
109MP0001188_hyperpigmentation0.82532540
110MP0005220_abnormal_exocrine_pancreas0.82048256
111MP0003122_maternal_imprinting0.80535052
112MP0002876_abnormal_thyroid_physiology0.80305285
113MP0005257_abnormal_intraocular_pressure0.79608336
114MP0009765_abnormal_xenobiotic_induced0.79372124
115MP0005084_abnormal_gallbladder_morpholo0.79227698
116MP0002751_abnormal_autonomic_nervous0.79121306
117MP0000490_abnormal_crypts_of0.78621570
118MP0001145_abnormal_male_reproductive0.77487922
119MP0005334_abnormal_fat_pad0.77163795
120MP0004130_abnormal_muscle_cell0.76188552
121MP0005376_homeostasis/metabolism_phenot0.75231796
122MP0002971_abnormal_brown_adipose0.75063939
123MP0002098_abnormal_vibrissa_morphology0.72754151
124MP0002089_abnormal_postnatal_growth/wei0.72673711
125MP0005535_abnormal_body_temperature0.71913595
126MP0001756_abnormal_urination0.70756925
127MP0001661_extended_life_span0.70124565
128MP0001929_abnormal_gametogenesis0.68444292
129MP0003699_abnormal_female_reproductive0.68418161
130MP0008789_abnormal_olfactory_epithelium0.68269110
131MP0009703_decreased_birth_body0.67876117
132MP0003942_abnormal_urinary_system0.67537143
133MP0003690_abnormal_glial_cell0.67509690
134MP0000653_abnormal_sex_gland0.66828312
135MP0003329_amyloid_beta_deposits0.65890159
136MP0005448_abnormal_energy_balance0.59543137
137MP0005266_abnormal_metabolism0.57811194
138MP0005464_abnormal_platelet_physiology0.57466963
139MP0000639_abnormal_adrenal_gland0.56174259
140MP0002928_abnormal_bile_duct0.53707622
141MP0002136_abnormal_kidney_physiology0.53196628
142MP0005666_abnormal_adipose_tissue0.50858944
143MP0009053_abnormal_anal_canal0.49725780
144MP0006035_abnormal_mitochondrial_morpho0.48676431
145MP0003638_abnormal_response/metabolism_0.48374460
146MP0005395_other_phenotype0.47624991
147MP0003724_increased_susceptibility_to0.46964978
148MP0003953_abnormal_hormone_level0.45965144
149MP0005058_abnormal_lysosome_morphology0.45508656
150MP0008874_decreased_physiological_sensi0.45504955
151MP0003436_decreased_susceptibility_to0.44593989
152MP0008873_increased_physiological_sensi0.44237938
153MP0002837_dystrophic_cardiac_calcinosis0.44184700
154MP0003300_gastrointestinal_ulcer0.40847323
155MP0003075_altered_response_to0.40142190
156MP0002822_catalepsy0.39723236
157MP0004782_abnormal_surfactant_physiolog0.39033481
158MP0003718_maternal_effect0.38716215
159MP0004043_abnormal_pH_regulation0.37996067
160MP0006082_CNS_inflammation0.37855642
161MP0009115_abnormal_fat_cell0.37834899
162MP0002796_impaired_skin_barrier0.37712196
163MP0002970_abnormal_white_adipose0.37666146
164MP0005166_decreased_susceptibility_to0.37555226
165MP0002168_other_aberrant_phenotype0.36455253
166MP0008872_abnormal_physiological_respon0.35984187
167MP0001845_abnormal_inflammatory_respons0.34848980
168MP0001881_abnormal_mammary_gland0.34730754
169MP0000230_abnormal_systemic_arterial0.33538470
170MP0009672_abnormal_birth_weight0.33401091
171MP0003959_abnormal_lean_body0.32874798
172MP0000249_abnormal_blood_vessel0.32772072
173MP0005248_abnormal_Harderian_gland0.31775637
174MP0001944_abnormal_pancreas_morphology0.30379121
175MP0010234_abnormal_vibrissa_follicle0.29971459
176MP0000579_abnormal_nail_morphology0.29811821
177MP0001243_abnormal_dermal_layer0.29193179
178MP0001765_abnormal_ion_homeostasis0.28915583
179MP0009384_cardiac_valve_regurgitation0.28516537

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.30556682
2Intrahepatic cholestasis (HP:0001406)7.16023310
3Deep venous thrombosis (HP:0002625)7.11002304
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.57085253
5Hypobetalipoproteinemia (HP:0003563)6.28509886
6Prolonged partial thromboplastin time (HP:0003645)6.23983213
7Xanthomatosis (HP:0000991)6.13314996
8Hyperlipoproteinemia (HP:0010980)5.39319255
9Complement deficiency (HP:0004431)5.03127917
10Hypolipoproteinemia (HP:0010981)4.65317019
11Hyperammonemia (HP:0001987)4.60191120
12Joint hemorrhage (HP:0005261)4.58887116
13Hyperglycinemia (HP:0002154)4.46192411
14Ketosis (HP:0001946)4.42713567
15Epidermoid cyst (HP:0200040)4.33714790
16Abnormality of the common coagulation pathway (HP:0010990)4.30845355
17Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.25885334
18Abnormality of glutamine family amino acid metabolism (HP:0010902)4.22357834
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.22195128
20Abnormality of methionine metabolism (HP:0010901)4.08608041
21Hyperglycinuria (HP:0003108)4.07059232
22Abnormality of aspartate family amino acid metabolism (HP:0010899)4.04692530
23Fat malabsorption (HP:0002630)4.04511965
24Abnormality of serine family amino acid metabolism (HP:0010894)4.03988690
25Abnormality of glycine metabolism (HP:0010895)4.03988690
26Hypoalphalipoproteinemia (HP:0003233)4.01818986
27Hypoglycemic coma (HP:0001325)3.96885121
28Abnormality of the intrinsic pathway (HP:0010989)3.76115712
29Conjugated hyperbilirubinemia (HP:0002908)3.68454056
30Abnormality of pyrimidine metabolism (HP:0004353)3.67264886
31Abnormality of complement system (HP:0005339)3.66153278
32Hypercholesterolemia (HP:0003124)3.58016043
33Reticulocytopenia (HP:0001896)3.57847291
34Abnormality of fatty-acid metabolism (HP:0004359)3.49285999
35Chromosomal breakage induced by crosslinking agents (HP:0003221)3.49057553
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.48691786
37Hyperbilirubinemia (HP:0002904)3.31546275
38Ketoacidosis (HP:0001993)3.23020880
39Abnormality of nucleobase metabolism (HP:0010932)3.11178522
40Delayed CNS myelination (HP:0002188)3.09508019
41Birth length less than 3rd percentile (HP:0003561)3.04738548
42Microvesicular hepatic steatosis (HP:0001414)3.04151732
43Abnormality of serum amino acid levels (HP:0003112)3.01649020
44Steatorrhea (HP:0002570)3.01647888
45Chromsome breakage (HP:0040012)2.99735389
46Colon cancer (HP:0003003)2.97735050
47Myocardial infarction (HP:0001658)2.93149456
48Hepatocellular carcinoma (HP:0001402)2.91126686
49Abnormality of purine metabolism (HP:0004352)2.83135340
50Metabolic acidosis (HP:0001942)2.82307464
51Spontaneous abortion (HP:0005268)2.75587075
52Skin nodule (HP:0200036)2.73546272
53Hypochromic microcytic anemia (HP:0004840)2.72819778
54Absent radius (HP:0003974)2.72193493
55Dicarboxylic aciduria (HP:0003215)2.69573313
56Abnormality of dicarboxylic acid metabolism (HP:0010995)2.69573313
57Acanthocytosis (HP:0001927)2.61855068
58Horseshoe kidney (HP:0000085)2.61649279
59Lethargy (HP:0001254)2.60807311
60Meckel diverticulum (HP:0002245)2.57599640
61Hypoglycemic seizures (HP:0002173)2.56536852
62Vascular calcification (HP:0004934)2.56086821
63Gout (HP:0001997)2.56061587
64Aplasia involving forearm bones (HP:0009822)2.55268219
65Absent forearm bone (HP:0003953)2.55268219
66Systemic lupus erythematosus (HP:0002725)2.55064753
67Cholecystitis (HP:0001082)2.48092971
68Abnormal gallbladder physiology (HP:0012438)2.48092971
69Aplasia/Hypoplasia of the sacrum (HP:0008517)2.47300193
70Abnormality of the ileum (HP:0001549)2.46521043
71Abnormal gallbladder morphology (HP:0012437)2.46297718
72Ependymoma (HP:0002888)2.45464633
73Absent thumb (HP:0009777)2.42287874
74Spastic diplegia (HP:0001264)2.41728519
75Cholelithiasis (HP:0001081)2.40466305
76Irritability (HP:0000737)2.40297632
77Mitral stenosis (HP:0001718)2.39856667
78Abnormal number of erythroid precursors (HP:0012131)2.38844971
79Cerebral edema (HP:0002181)2.37443465
80Malnutrition (HP:0004395)2.36407070
81Glomerulonephritis (HP:0000099)2.33836656
82Neonatal onset (HP:0003623)2.30677198
83Late onset (HP:0003584)2.29092236
84Abnormality of the labia minora (HP:0012880)2.28743522
85Abnormality of cells of the erythroid lineage (HP:0012130)2.28729578
86Duplication of thumb phalanx (HP:0009942)2.27124433
87Cardiovascular calcification (HP:0011915)2.27114032
88Sensorimotor neuropathy (HP:0007141)2.25331809
89Pancreatitis (HP:0001733)2.23161905
90Hypoplasia of the capital femoral epiphysis (HP:0003090)2.22530034
91Generalized aminoaciduria (HP:0002909)2.21320812
92Vaginal fistula (HP:0004320)2.20369565
93Brushfield spots (HP:0001088)2.20346298
94Cortical dysplasia (HP:0002539)2.18136071
95Amyloidosis (HP:0011034)2.17903998
96Hyperinsulinemic hypoglycemia (HP:0000825)2.17845015
97Aplasia/Hypoplasia of the uvula (HP:0010293)2.17718517
98Duplicated collecting system (HP:0000081)2.16841220
99Gingival bleeding (HP:0000225)2.15402034
100Menorrhagia (HP:0000132)2.15256696
101Hepatoblastoma (HP:0002884)2.15055478
102Esophageal varix (HP:0002040)2.13684165
103Bilateral microphthalmos (HP:0007633)2.12045355
104Ectopic kidney (HP:0000086)2.11864386
105Lipid accumulation in hepatocytes (HP:0006561)2.11463908
106Recurrent gram-negative bacterial infections (HP:0005420)2.11064091
107Vomiting (HP:0002013)2.10602584
108Increased nuchal translucency (HP:0010880)2.09561752
109Breast hypoplasia (HP:0003187)2.09332069
110Abnormality of the carotid arteries (HP:0005344)2.08403629
111Hydroxyprolinuria (HP:0003080)2.05543541
112Abnormality of proline metabolism (HP:0010907)2.05543541
113Premature ovarian failure (HP:0008209)2.04748220
114Enlarged kidneys (HP:0000105)2.04598631
115Abnormality of the preputium (HP:0100587)2.04450325
116Opisthotonus (HP:0002179)2.03420885
117Poikilocytosis (HP:0004447)2.00606815
118Hemorrhage of the eye (HP:0011885)1.99109451
119Thrombophlebitis (HP:0004418)1.97851457
120Abnormality of the gallbladder (HP:0005264)1.97695808
121Hyperacusis (HP:0010780)1.97639547
122Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.97359713
123Abnormality of alanine metabolism (HP:0010916)1.97359713
124Hyperalaninemia (HP:0003348)1.97359713
125Overriding aorta (HP:0002623)1.96280217
126Increased hepatocellular lipid droplets (HP:0006565)1.95558635
127Impulsivity (HP:0100710)1.95184068
128Absent epiphyses (HP:0010577)1.93656690
129Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.93656690
130Abnormal enzyme/coenzyme activity (HP:0012379)1.91546157
131Acute encephalopathy (HP:0006846)1.90721493
132Short thumb (HP:0009778)1.90441065
133Rickets (HP:0002748)1.89970428
134Abnormal cartilage morphology (HP:0002763)1.89565354
135Abnormality of glycolysis (HP:0004366)1.88901945
136Abnormality of transition element cation homeostasis (HP:0011030)1.88898899
137Renal cortical cysts (HP:0000803)1.88815952
138Abnormality of chromosome stability (HP:0003220)1.88425003
139Alkalosis (HP:0001948)1.87478768
140Increased serum lactate (HP:0002151)1.86513628
141Abnormality of iron homeostasis (HP:0011031)1.86023126
142Methylmalonic aciduria (HP:0012120)1.84483347
143Progressive muscle weakness (HP:0003323)1.83011348
144Patellar aplasia (HP:0006443)1.82523333
145Elevated hepatic transaminases (HP:0002910)1.82455829
146Choanal stenosis (HP:0000452)1.81708197
147Abnormality of the renal collecting system (HP:0004742)1.80619954
148Ureteral duplication (HP:0000073)1.80331375
149Multiple enchondromatosis (HP:0005701)1.79388786
150Hypophosphatemic rickets (HP:0004912)1.79361182
151Hypoplasia of the pons (HP:0012110)1.79014757
152Proximal tubulopathy (HP:0000114)1.78265304
153Rectovaginal fistula (HP:0000143)1.78170031
154Rectal fistula (HP:0100590)1.78170031
155Hyperglycemia (HP:0003074)1.76811893
156Abnormality of vitamin metabolism (HP:0100508)1.76410578
157Reticulocytosis (HP:0001923)1.75677362
158Squamous cell carcinoma (HP:0002860)1.73581041
159Testicular atrophy (HP:0000029)1.73171609
160Abdominal situs inversus (HP:0003363)1.73108221
161Abnormality of abdominal situs (HP:0011620)1.73108221
162Increased serum pyruvate (HP:0003542)1.72531083
163Stenosis of the external auditory canal (HP:0000402)1.71473984
164Delayed epiphyseal ossification (HP:0002663)1.70918822
165Triphalangeal thumb (HP:0001199)1.68298581
166Aplasia/Hypoplasia of the patella (HP:0006498)1.67680258
167Abnormal lung lobation (HP:0002101)1.67285742
168Renovascular hypertension (HP:0100817)1.66702260
169Carpal bone hypoplasia (HP:0001498)1.66686505
170Abnormality of DNA repair (HP:0003254)1.65930929
171Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.65288772
172Abnormal protein N-linked glycosylation (HP:0012347)1.65288772
173Abnormal protein glycosylation (HP:0012346)1.65288772
174Abnormal glycosylation (HP:0012345)1.65288772
175Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.64626693
176Optic nerve coloboma (HP:0000588)1.62890826
177Abnormality of reticulocytes (HP:0004312)1.62648708
178Partial duplication of thumb phalanx (HP:0009944)1.62184941
179Lactic acidosis (HP:0003128)1.62061477
180Type I transferrin isoform profile (HP:0003642)1.61341731
181Abnormal biliary tract physiology (HP:0012439)1.61049583
182Bile duct proliferation (HP:0001408)1.61049583
183Abnormality of the pons (HP:0007361)1.60476055
184Trigonocephaly (HP:0000243)1.59752512
185Hemivertebrae (HP:0002937)1.59659203
186Abnormality of homocysteine metabolism (HP:0010919)1.57454858

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.98830555
2ERN14.55818724
3FGFR44.40488525
4SIK14.39973080
5VRK23.91884580
6SMG13.69089166
7BUB13.48739899
8TAOK33.17085654
9STK163.13619404
10PBK3.11325647
11SRPK13.04386606
12CDC72.91377828
13INSRR2.88245969
14TTK2.86894469
15ZAK2.69063421
16PKN22.47077028
17ERBB42.28967741
18MAP2K42.19075038
19PIK3CG2.18090057
20MST1R2.16192329
21EEF2K2.10516527
22TRIB32.08305273
23TAF12.06749779
24NME12.06736882
25FLT32.04468810
26NEK11.87851508
27TYK21.82838403
28FRK1.73443581
29PTK61.68965390
30TLK11.68883499
31CDK71.67281213
32TSSK61.66741543
33CHEK21.66396427
34MAPK111.62315246
35LMTK21.62196524
36PDK21.61272610
37TRIM281.58491283
38VRK11.52342263
39PLK41.49045753
40LATS11.47891039
41PLK11.41475523
42BRSK11.38165939
43ATR1.35616795
44NEK91.31592021
45MAP4K21.28247864
46AURKA1.28068219
47CDK81.27947898
48JAK21.27342309
49ABL21.24832070
50MAP2K31.21196246
51MAP3K71.20578455
52GRK61.18794878
53CDK121.18547885
54KDR1.17086917
55PLK31.17047055
56TBK11.16336328
57FGFR21.15945470
58TESK21.12645108
59EPHB11.11255366
60JAK11.10757703
61PRKAA21.09596793
62BRSK21.09174619
63DAPK21.08686603
64BMPR1B1.07961910
65CHEK11.06651457
66NEK21.05202005
67WEE11.04357564
68AURKB1.04282206
69MKNK11.03884598
70MAP3K101.02820871
71CAMK1D1.02358539
72WNK31.01256091
73CDK191.00936938
74CSNK1G31.00123275
75MAP3K140.96028810
76DYRK20.94992768
77MKNK20.93985742
78CSNK1A1L0.93246679
79EPHA20.93182336
80BMX0.90673148
81PINK10.89470172
82ERBB20.87906729
83MAP3K130.87710627
84PAK40.86607528
85MAP3K30.86598577
86MAPK40.86146506
87CSK0.84821289
88BCR0.82584090
89STK40.82010341
90CDK60.81634450
91PASK0.80143650
92EPHA30.79194145
93MAP3K110.78285010
94RIPK10.77617162
95MET0.76221325
96PRKCZ0.75587258
97MAPK150.74142800
98CSNK1G20.73824943
99MAP3K80.71771918
100PRKACG0.71135404
101BRD40.71019307
102GSK3A0.70955952
103DYRK30.69309463
104TGFBR20.68864314
105MAPK120.68576863
106MAP2K60.68121065
107FGFR30.67207126
108TIE10.67064722
109STK30.66894321
110ALK0.66812926
111CDK90.66565787
112ATM0.65431513
113NME20.65362890
114IRAK30.65278992
115PTK20.64844163
116PRKAA10.62073217
117RPS6KA50.61610442
118CSF1R0.61098970
119RPS6KA40.60843929
120SGK30.60238542
121DYRK1B0.59457833
122MELK0.59174437
123CDK20.59046143
124IKBKE0.57362883
125RET0.56489055
126CDK10.56361275
127PRKCI0.54446886
128WNK40.53697542
129STK38L0.52918413
130MST40.52876174
131MAP4K10.52876128
132RPS6KB20.51440360
133CAMK2G0.50594763
134PDPK10.49965220
135NUAK10.49757576
136PRKCQ0.49210837
137CSNK2A10.49120310
138TGFBR10.48337082
139MAPK70.48003967
140CSNK1E0.47013621
141CSNK2A20.47007835
142MAP2K10.46783063
143IGF1R0.46420207
144CDK40.45964974
145KIT0.45818056
146MAP2K20.45539923
147AKT20.44856078
148MTOR0.43415710
149MAP3K10.42525617
150CAMK1G0.41744985
151BRAF0.41546655
152FGFR10.39175693
153GRK10.37748624
154ITK0.36851547
155PDK10.35357478
156SGK20.34248257
157ZAP700.33610777
158RPS6KB10.33537908
159ICK0.33309074
160PRKG20.32614372
161CSNK1A10.32558850
162PIK3CA0.32137665
163PDK30.32050098
164PDK40.32050098
165MAP3K50.31689888
166MAP3K60.30892735
167EGFR0.30625258
168CSNK1G10.29963376
169IRAK10.29803681
170MATK0.29356565
171EIF2AK20.29026659
172LIMK10.28790949
173PAK30.26420554
174SGK2230.25428808
175SGK4940.25428808
176MAP3K20.23832507
177PDGFRA0.21609791
178PRKCA0.21489490
179ABL10.21044621
180JAK30.20539792

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.38149159
2Nitrogen metabolism_Homo sapiens_hsa009103.42961939
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.38606255
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.22810925
5DNA replication_Homo sapiens_hsa030303.14620184
6Arginine biosynthesis_Homo sapiens_hsa002202.98588341
7Mismatch repair_Homo sapiens_hsa034302.79599062
8Tryptophan metabolism_Homo sapiens_hsa003802.71269074
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.67479222
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.62976526
11Complement and coagulation cascades_Homo sapiens_hsa046102.61250051
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.59672680
13Fatty acid degradation_Homo sapiens_hsa000712.52183352
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.45824987
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.45516984
16Base excision repair_Homo sapiens_hsa034102.30789568
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.29391565
18Butanoate metabolism_Homo sapiens_hsa006502.17062403
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.14039327
20Peroxisome_Homo sapiens_hsa041462.08642787
21Propanoate metabolism_Homo sapiens_hsa006402.00449667
22Ribosome_Homo sapiens_hsa030102.00155323
23Chemical carcinogenesis_Homo sapiens_hsa052041.95739881
24RNA polymerase_Homo sapiens_hsa030201.94841415
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.91508413
26PPAR signaling pathway_Homo sapiens_hsa033201.90896741
27Histidine metabolism_Homo sapiens_hsa003401.90656368
28Homologous recombination_Homo sapiens_hsa034401.90106356
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.89079582
30Caffeine metabolism_Homo sapiens_hsa002321.87475872
31Fatty acid metabolism_Homo sapiens_hsa012121.84662877
32Spliceosome_Homo sapiens_hsa030401.80405382
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.78794757
34RNA transport_Homo sapiens_hsa030131.76253208
35Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.75846543
36beta-Alanine metabolism_Homo sapiens_hsa004101.72959521
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.67093145
38Retinol metabolism_Homo sapiens_hsa008301.66667240
39Staphylococcus aureus infection_Homo sapiens_hsa051501.66044928
40Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65744030
41Fanconi anemia pathway_Homo sapiens_hsa034601.64058944
42Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62933288
43Selenocompound metabolism_Homo sapiens_hsa004501.59279003
44Non-homologous end-joining_Homo sapiens_hsa034501.59157820
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.56939537
46Proteasome_Homo sapiens_hsa030501.56730054
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.55979769
48Bile secretion_Homo sapiens_hsa049761.53429538
49Phenylalanine metabolism_Homo sapiens_hsa003601.52601591
50Nucleotide excision repair_Homo sapiens_hsa034201.50852990
51Sulfur metabolism_Homo sapiens_hsa009201.49449566
52Pyrimidine metabolism_Homo sapiens_hsa002401.45057540
53Pyruvate metabolism_Homo sapiens_hsa006201.41305021
54Cell cycle_Homo sapiens_hsa041101.40316090
55Tyrosine metabolism_Homo sapiens_hsa003501.39479411
56Starch and sucrose metabolism_Homo sapiens_hsa005001.34832853
57Fatty acid elongation_Homo sapiens_hsa000621.31287014
58Folate biosynthesis_Homo sapiens_hsa007901.26032459
59ABC transporters_Homo sapiens_hsa020101.25954108
60Fat digestion and absorption_Homo sapiens_hsa049751.25190040
61Cysteine and methionine metabolism_Homo sapiens_hsa002701.22119689
62Biosynthesis of amino acids_Homo sapiens_hsa012301.16973479
63Maturity onset diabetes of the young_Homo sapiens_hsa049501.16151773
64Carbon metabolism_Homo sapiens_hsa012001.14834703
65Basal transcription factors_Homo sapiens_hsa030221.14611796
66Steroid biosynthesis_Homo sapiens_hsa001001.07986343
67Cyanoamino acid metabolism_Homo sapiens_hsa004601.01691318
68RNA degradation_Homo sapiens_hsa030180.98462828
69mRNA surveillance pathway_Homo sapiens_hsa030150.98312878
70Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96595550
71Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95256705
72Arginine and proline metabolism_Homo sapiens_hsa003300.94812806
73Sulfur relay system_Homo sapiens_hsa041220.93874653
74Oxidative phosphorylation_Homo sapiens_hsa001900.93090849
75Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91990440
76Vitamin digestion and absorption_Homo sapiens_hsa049770.91154302
77Vitamin B6 metabolism_Homo sapiens_hsa007500.85862856
78Basal cell carcinoma_Homo sapiens_hsa052170.84237041
79Lysine degradation_Homo sapiens_hsa003100.83999256
80Huntingtons disease_Homo sapiens_hsa050160.83354357
81Parkinsons disease_Homo sapiens_hsa050120.82973170
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80535230
83Glycerolipid metabolism_Homo sapiens_hsa005610.74970866
84Purine metabolism_Homo sapiens_hsa002300.73318391
85Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.72530687
86One carbon pool by folate_Homo sapiens_hsa006700.72411556
87N-Glycan biosynthesis_Homo sapiens_hsa005100.67958862
88Glutathione metabolism_Homo sapiens_hsa004800.64975252
89Protein export_Homo sapiens_hsa030600.63684558
90Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.62039716
91Pentose phosphate pathway_Homo sapiens_hsa000300.59831135
92Fatty acid biosynthesis_Homo sapiens_hsa000610.55497423
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55371709
94Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.50733345
95Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49989898
96Hippo signaling pathway_Homo sapiens_hsa043900.49773408
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.47887084
98Systemic lupus erythematosus_Homo sapiens_hsa053220.46840790
99Metabolic pathways_Homo sapiens_hsa011000.45784134
100Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.43643265
101Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43199757
102p53 signaling pathway_Homo sapiens_hsa041150.41797641
103Galactose metabolism_Homo sapiens_hsa000520.36137953
104Fructose and mannose metabolism_Homo sapiens_hsa000510.31230943
105Prion diseases_Homo sapiens_hsa050200.29860569
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29678059
107Insulin resistance_Homo sapiens_hsa049310.27350154
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.26730960
109alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25139069
110Linoleic acid metabolism_Homo sapiens_hsa005910.21237139
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.17520550
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15387832
113Glucagon signaling pathway_Homo sapiens_hsa049220.12502444
114AMPK signaling pathway_Homo sapiens_hsa041520.05114051
115Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00439604
116Type II diabetes mellitus_Homo sapiens_hsa04930-0.2323572
117Amoebiasis_Homo sapiens_hsa05146-0.2318532
118Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2306138
119Protein digestion and absorption_Homo sapiens_hsa04974-0.2284201
120Lysosome_Homo sapiens_hsa04142-0.1859858
121African trypanosomiasis_Homo sapiens_hsa05143-0.1728650
122Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1709678
123Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1592321
124Hepatitis C_Homo sapiens_hsa05160-0.1503558
125Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1331297
126Regulation of autophagy_Homo sapiens_hsa04140-0.1282557
127Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1269469
128Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1214459
129Renin-angiotensin system_Homo sapiens_hsa04614-0.1019684
130Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0912879
131Insulin signaling pathway_Homo sapiens_hsa04910-0.0689020
132Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0658588
133Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0607697
134Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0415582
135Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0399344

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