AGBL5

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: This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1multicellular organism reproduction (GO:0032504)9.62040785
2binding of sperm to zona pellucida (GO:0007339)9.60292443
3acrosome assembly (GO:0001675)9.59529686
4epithelial cilium movement (GO:0003351)9.30179257
5cell-cell recognition (GO:0009988)9.27943754
6motile cilium assembly (GO:0044458)9.05628503
7plasma membrane fusion (GO:0045026)8.97632254
8spermatid development (GO:0007286)8.89726262
9cell wall macromolecule metabolic process (GO:0044036)8.87253555
10cell wall macromolecule catabolic process (GO:0016998)8.87253555
11protein neddylation (GO:0045116)8.34650922
12male meiosis (GO:0007140)8.27699307
13regulation of cilium movement (GO:0003352)8.14159512
14cilium movement (GO:0003341)7.94801716
15synaptonemal complex organization (GO:0070193)7.94206333
16reproduction (GO:0000003)7.92999825
17epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.91107400
18synaptonemal complex assembly (GO:0007130)7.68401787
19single fertilization (GO:0007338)6.64560625
20sperm capacitation (GO:0048240)6.44152712
21DNA methylation involved in gamete generation (GO:0043046)6.24984845
22negative regulation of inclusion body assembly (GO:0090084)5.96420790
23spermatogenesis (GO:0007283)5.90756561
24fertilization (GO:0009566)5.90205601
25male meiosis I (GO:0007141)5.90114818
26male gamete generation (GO:0048232)5.88833392
27microtubule depolymerization (GO:0007019)5.47722614
28gamete generation (GO:0007276)5.41089431
29chromosome organization involved in meiosis (GO:0070192)5.33593631
30germ cell development (GO:0007281)5.29604277
31ventricular system development (GO:0021591)5.29267446
32organic cation transport (GO:0015695)5.26026734
33cellular process involved in reproduction in multicellular organism (GO:0022412)5.20685486
34meiotic nuclear division (GO:0007126)5.13882034
35seminiferous tubule development (GO:0072520)5.09820377
36regulation of inclusion body assembly (GO:0090083)4.92934127
37regulation of microtubule-based movement (GO:0060632)4.91025220
38meiosis I (GO:0007127)4.87824130
39microtubule severing (GO:0051013)4.63349362
40left/right pattern formation (GO:0060972)4.63341069
41meiotic cell cycle (GO:0051321)4.56434129
42gene silencing by RNA (GO:0031047)4.54844426
43cell recognition (GO:0008037)4.42491826
44calcium ion-dependent exocytosis (GO:0017156)4.39804470
45multicellular organismal reproductive process (GO:0048609)4.27237158
46pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.26615241
47polyamine biosynthetic process (GO:0006596)4.17805848
48blood coagulation, intrinsic pathway (GO:0007597)4.17168228
49monoubiquitinated protein deubiquitination (GO:0035520)4.08342568
50pyrimidine deoxyribonucleotide metabolic process (GO:0009219)4.08262334
51genitalia morphogenesis (GO:0035112)4.06681164
52deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.01426280
53thrombin receptor signaling pathway (GO:0070493)3.98002689
54mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.95848772
55DNA packaging (GO:0006323)3.89481134
56chromosome condensation (GO:0030261)3.88522346
57protein localization to cilium (GO:0061512)3.87705718
58ribosomal small subunit biogenesis (GO:0042274)3.87677111
59mitotic sister chromatid cohesion (GO:0007064)3.84681784
60negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.81569706
61triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.79260485
62protein polyglutamylation (GO:0018095)3.78186332
63negative regulation of heart rate (GO:0010459)3.75554169
64negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.73933291
65positive regulation of endothelial cell differentiation (GO:0045603)3.72291579
66viral transcription (GO:0019083)3.69917397
67chaperone-mediated protein complex assembly (GO:0051131)3.66944848
68translational termination (GO:0006415)3.63616080
69negative regulation of norepinephrine secretion (GO:0010700)3.62934635
70mitochondrial calcium ion transport (GO:0006851)3.61378567
71negative regulation of organelle assembly (GO:1902116)3.57939990
72negative regulation of appetite (GO:0032099)3.53197302
73negative regulation of response to food (GO:0032096)3.53197302
74nuclear pore complex assembly (GO:0051292)3.52746799
75rRNA modification (GO:0000154)3.50230686
76gene silencing (GO:0016458)3.46123839
77multicellular organismal development (GO:0007275)3.45488033
78meiotic chromosome segregation (GO:0045132)3.43673869
79meiotic cell cycle process (GO:1903046)3.43405000
80pyrimidine nucleotide catabolic process (GO:0006244)3.42587778
81negative regulation of DNA-templated transcription, elongation (GO:0032785)3.41554506
82intraciliary transport (GO:0042073)3.39752322
83regulation of meiosis I (GO:0060631)3.39102389
84rRNA methylation (GO:0031167)3.38950444
85ribosomal large subunit biogenesis (GO:0042273)3.37886731
86regulation of spindle checkpoint (GO:0090231)3.37181922
87regulation of centriole replication (GO:0046599)3.33085535
88positive regulation of protein homodimerization activity (GO:0090073)3.32898799
89negative regulation of thymocyte apoptotic process (GO:0070244)3.32720101
90translational elongation (GO:0006414)3.28691405
91ATP synthesis coupled proton transport (GO:0015986)3.28079225
92energy coupled proton transport, down electrochemical gradient (GO:0015985)3.28079225
93regulation of oxidative phosphorylation (GO:0002082)3.27450959
94positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.24318819
95carnitine transport (GO:0015879)3.22482391
96amino-acid betaine transport (GO:0015838)3.22482391
97glycerol ether metabolic process (GO:0006662)3.21951626
98SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.21516487
99platelet aggregation (GO:0070527)3.21111108
100cotranslational protein targeting to membrane (GO:0006613)3.16987385
101carnitine transmembrane transport (GO:1902603)3.16378919
102mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.16085398
103mitochondrial respiratory chain complex I assembly (GO:0032981)3.16085398
104NADH dehydrogenase complex assembly (GO:0010257)3.16085398
105microtubule-based movement (GO:0007018)3.15990753
106axoneme assembly (GO:0035082)3.14044945
107mismatch repair (GO:0006298)3.13986556
108erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.13153447
109L-phenylalanine catabolic process (GO:0006559)3.13153447
110regulation of Golgi to plasma membrane protein transport (GO:0042996)3.12056454
111protein localization to endoplasmic reticulum (GO:0070972)3.11788393
112protein targeting to ER (GO:0045047)3.09887088
113regulation of histone H3-K9 methylation (GO:0051570)3.09780410
114RNA localization (GO:0006403)3.09643092
115synapsis (GO:0007129)3.08191811
116telomere maintenance via semi-conservative replication (GO:0032201)3.06446822
117protein insertion into membrane (GO:0051205)3.02653227
118polyamine metabolic process (GO:0006595)3.01474104
119spermatid nucleus differentiation (GO:0007289)3.01190670
120ribosomal small subunit assembly (GO:0000028)3.00910801
121DNA strand elongation involved in DNA replication (GO:0006271)3.00792822
122lipoxygenase pathway (GO:0019372)3.00589690
123nucleus organization (GO:0006997)2.99998881
124establishment of protein localization to endoplasmic reticulum (GO:0072599)2.99897454
125cellular protein complex disassembly (GO:0043624)2.98474485
126viral life cycle (GO:0019058)2.97886309
127ether metabolic process (GO:0018904)2.94153978
128regulation of megakaryocyte differentiation (GO:0045652)2.92656407
129protein complex biogenesis (GO:0070271)2.92552371
130protein refolding (GO:0042026)2.92339928
131nucleosome disassembly (GO:0006337)2.91318720
132protein-DNA complex disassembly (GO:0032986)2.91318720
133DNA methylation (GO:0006306)2.90684317
134DNA alkylation (GO:0006305)2.90684317
135cilium organization (GO:0044782)2.89325618
136DNA strand elongation (GO:0022616)2.89016266
137DNA replication checkpoint (GO:0000076)2.88325410
138lactate metabolic process (GO:0006089)2.87814330
139nuclear pore organization (GO:0006999)2.87624192
140protein complex disassembly (GO:0043241)2.83065685
141mitochondrial respiratory chain complex assembly (GO:0033108)2.82474644
142adenosine receptor signaling pathway (GO:0001973)2.82269120
143cellular biogenic amine biosynthetic process (GO:0042401)2.80439851
144regulation of cellular respiration (GO:0043457)2.79510673
145fatty acid elongation (GO:0030497)2.78305592
146DNA replication-dependent nucleosome assembly (GO:0006335)2.77963146
147DNA replication-dependent nucleosome organization (GO:0034723)2.77963146
148translesion synthesis (GO:0019985)2.77829821
149regulation of integrin-mediated signaling pathway (GO:2001044)2.76799594
150nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.76502299
151cilium assembly (GO:0042384)2.74258689
152L-phenylalanine metabolic process (GO:0006558)2.73160849
153erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.73160849
154pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.72154663
155regulation of chromatin binding (GO:0035561)2.70368966
156macromolecular complex disassembly (GO:0032984)2.69942906
157translational initiation (GO:0006413)2.69911846
158DNA synthesis involved in DNA repair (GO:0000731)2.69903445
159ribonucleoprotein complex biogenesis (GO:0022613)2.69790609
160CENP-A containing nucleosome assembly (GO:0034080)2.69667159
161tyrosine metabolic process (GO:0006570)2.69638737
162cilium morphogenesis (GO:0060271)2.69285284
163sex differentiation (GO:0007548)2.67105934
164pore complex assembly (GO:0046931)2.66805263
165electron transport chain (GO:0022900)2.63380785
166cellular component biogenesis (GO:0044085)2.63150549
167microtubule polymerization or depolymerization (GO:0031109)2.62926574
168chromatin remodeling at centromere (GO:0031055)2.62098532
169negative regulation of DNA repair (GO:0045738)2.61796253
170amine biosynthetic process (GO:0009309)2.60875824
171polyol catabolic process (GO:0046174)2.60690784
172glycolytic process (GO:0006096)2.60122666
173respiratory electron transport chain (GO:0022904)2.58936761
174negative regulation of protein localization to cell surface (GO:2000009)2.57704527
175kinetochore assembly (GO:0051382)2.55474524
176low-density lipoprotein particle remodeling (GO:0034374)2.55430899
177regulation of endothelial cell differentiation (GO:0045601)2.55108884
178regulation of platelet activation (GO:0010543)2.51347711
179nucleotide-excision repair, DNA gap filling (GO:0006297)2.51296138
180neutrophil activation involved in immune response (GO:0002283)2.51136282
181reciprocal DNA recombination (GO:0035825)2.50195212
182reciprocal meiotic recombination (GO:0007131)2.50195212
183transcription elongation from RNA polymerase III promoter (GO:0006385)2.48412755
184termination of RNA polymerase III transcription (GO:0006386)2.48412755
185cilium or flagellum-dependent cell motility (GO:0001539)12.6902058
186fusion of sperm to egg plasma membrane (GO:0007342)11.8998100
187sperm motility (GO:0030317)11.7456919
188sperm-egg recognition (GO:0035036)10.3747142
189acrosome reaction (GO:0007340)10.2088612
190axonemal dynein complex assembly (GO:0070286)10.1292314
191piRNA metabolic process (GO:0034587)10.0760180

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.98196182
2HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.85497952
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.63803815
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.57033266
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.34788771
6STAT6_21828071_ChIP-Seq_BEAS2B_Human3.33542022
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.26534838
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.21248932
9E2F7_22180533_ChIP-Seq_HELA_Human3.18059554
10KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.15716194
11* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.10326485
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.04769714
13THAP11_20581084_ChIP-Seq_MESCs_Mouse2.90308815
14* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.84412577
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.77726501
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.65430998
17ELF1_17652178_ChIP-ChIP_JURKAT_Human2.64180779
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.64158926
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.63729617
20E2F4_17652178_ChIP-ChIP_JURKAT_Human2.59862909
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.56309302
22MYC_18358816_ChIP-ChIP_MESCs_Mouse2.51362413
23HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.51111031
24TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.49927800
25* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.36180781
26* XRN2_22483619_ChIP-Seq_HELA_Human2.29271640
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27144187
28GATA1_26923725_Chip-Seq_HPCs_Mouse2.24452443
29DCP1A_22483619_ChIP-Seq_HELA_Human2.20612253
30MYC_19079543_ChIP-ChIP_MESCs_Mouse2.17805124
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.13587664
32TTF2_22483619_ChIP-Seq_HELA_Human2.12740036
33ELK1_19687146_ChIP-ChIP_HELA_Human2.11754840
34NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.10206357
35MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.08136139
36ZNF274_21170338_ChIP-Seq_K562_Hela2.03277319
37HOXB4_20404135_ChIP-ChIP_EML_Mouse2.01876853
38ELK4_26923725_Chip-Seq_MESODERM_Mouse2.00283296
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse12.1072261
40FOXP3_21729870_ChIP-Seq_TREG_Human1.98469425
41HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96826428
42CREB1_15753290_ChIP-ChIP_HEK293T_Human1.95353862
43VDR_23849224_ChIP-Seq_CD4+_Human1.95073785
44PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.93041344
45SRY_22984422_ChIP-ChIP_TESTIS_Rat1.91017211
46MYC_18940864_ChIP-ChIP_HL60_Human1.89489229
47SRF_21415370_ChIP-Seq_HL-1_Mouse1.86684493
48GABP_19822575_ChIP-Seq_HepG2_Human1.82387172
49E2F1_18555785_ChIP-Seq_MESCs_Mouse1.82074885
50* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81098625
51* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.80645246
52EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.77459155
53WDR5_24793694_ChIP-Seq_LNCAP_Human1.75600154
54* FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.73709379
55IRF1_19129219_ChIP-ChIP_H3396_Human1.73674324
56* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.71334837
57RBPJ_22232070_ChIP-Seq_NCS_Mouse1.70221699
58FOXM1_23109430_ChIP-Seq_U2OS_Human1.61723934
59CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.60590238
60POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.60542590
61NELFA_20434984_ChIP-Seq_ESCs_Mouse1.55341729
62TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52459166
63E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.46151808
64VDR_22108803_ChIP-Seq_LS180_Human1.43668125
65TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.42130055
66* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.41104174
67STAT1_17558387_ChIP-Seq_HELA_Human1.40886995
68YY1_21170310_ChIP-Seq_MESCs_Mouse1.40817067
69KDM5A_27292631_Chip-Seq_BREAST_Human1.37607136
70CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.36676195
71SOX2_22085726_ChIP-Seq_NPCs_Mouse1.36449417
72LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.35244783
73GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.34963244
74FLI1_27457419_Chip-Seq_LIVER_Mouse1.34722256
75* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.34626449
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.33015771
77MYCN_18555785_ChIP-Seq_MESCs_Mouse1.32699455
78* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.31060825
79E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.29386200
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.28469065
81CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.27903921
82SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.27674843
83CBP_20019798_ChIP-Seq_JUKART_Human1.26250097
84IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26250097
85MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.25962066
86YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25705275
87KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.25429838
88* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24917518
89GATA3_21867929_ChIP-Seq_CD8_Mouse1.24780867
90EWS_26573619_Chip-Seq_HEK293_Human1.24661631
91PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.22583746
92SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.20435887
93POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.17782224
94SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.17636979
95ELF1_20517297_ChIP-Seq_JURKAT_Human1.16437788
96LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.16214669
97SCL_19346495_ChIP-Seq_HPC-7_Human1.14576896
98NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.12761482
99E2F1_21310950_ChIP-Seq_MCF-7_Human1.12606900
100* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12173472
101YY1_22570637_ChIP-Seq_MALME-3M_Human1.11254194
102P53_21459846_ChIP-Seq_SAOS-2_Human1.11006557
103REST_21632747_ChIP-Seq_MESCs_Mouse1.10949664
104* RUNX1_26923725_Chip-Seq_HPCs_Mouse1.10844821
105* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.10759349
106SOX2_16153702_ChIP-ChIP_HESCs_Human1.09902424
107PCGF2_27294783_Chip-Seq_ESCs_Mouse1.09617837
108SOX2_18555785_ChIP-Seq_MESCs_Mouse1.09329422
109SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08920523
110POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.08270220
111PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.07515480
112RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.06852848
113BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06695459
114* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06627218
115ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.05437867
116* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.04997206
117RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.04224772
118HTT_18923047_ChIP-ChIP_STHdh_Human1.03215773
119POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03080108
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03080108
121EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.02943648
122RARA_24833708_ChIP-Seq_LIVER_Mouse1.02942708
123ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02581047
124KAP1_22055183_ChIP-Seq_ESCs_Mouse1.01028292
125TDRD3_21172665_ChIP-Seq_MCF-7_Human1.00978941
126CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.00489214
127SPI1_26923725_Chip-Seq_HPCs_Mouse0.99919154
128TAL1_26923725_Chip-Seq_HPCs_Mouse0.99889386
129RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99693022
130CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99642492
131PHF8_20622854_ChIP-Seq_HELA_Human0.99284546
132CIITA_25753668_ChIP-Seq_RAJI_Human0.99267003
133MYC_27129775_Chip-Seq_CORNEA_Mouse0.98074370
134GF1_26923725_Chip-Seq_HPCs_Mouse0.97608305
135RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.97455486
136PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96663666
137PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.95660859
138RAD21_21589869_ChIP-Seq_MESCs_Mouse0.95229923
139NFIB_24661679_ChIP-Seq_LUNG_Mouse0.94670396
140KDM2B_26808549_Chip-Seq_REH_Human0.94646768
141TET1_21451524_ChIP-Seq_MESCs_Mouse0.94554831
142GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93335713
143CTCF_20526341_ChIP-Seq_ESCs_Human0.93235033
144FLI1_21867929_ChIP-Seq_TH2_Mouse0.92965387
145ERG_20517297_ChIP-Seq_VCAP_Human0.92183124
146NANOG_18555785_ChIP-Seq_MESCs_Mouse0.91422331
147TBX5_21415370_ChIP-Seq_HL-1_Mouse0.91255815
148CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90592193
149* RXRA_24833708_ChIP-Seq_LIVER_Mouse0.90344941
150IGF1R_20145208_ChIP-Seq_DFB_Human0.89839736
151* SOX2_21211035_ChIP-Seq_LN229_Human0.89460952
152FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.89430353
153* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.88888864
154NCOR1_26117541_ChIP-Seq_K562_Human0.87396195
155LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.86802027
156CTCF_18555785_ChIP-Seq_MESCs_Mouse0.86780671
157GATA3_21867929_ChIP-Seq_TH1_Mouse0.86534188
158FOXP1_21924763_ChIP-Seq_HESCs_Human0.86251354
159TP53_22573176_ChIP-Seq_HFKS_Human0.86147372
160SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85972246
161E2F1_20622854_ChIP-Seq_HELA_Human0.85895769
162ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.85529874
163NFE2_27457419_Chip-Seq_LIVER_Mouse0.85465108
164FLI1_21867929_ChIP-Seq_CD8_Mouse0.84544795
165* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.84536176
166KLF4_18555785_ChIP-Seq_MESCs_Mouse0.84413178
167SMC4_20622854_ChIP-Seq_HELA_Human0.84150234
168PCGF2_27294783_Chip-Seq_NPCs_Mouse0.83523643
169ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.82911760
170* SOX11_22085726_ChIP-Seq_ESNs_Mouse0.81645862
171BCOR_27268052_Chip-Seq_Bcells_Human0.81510192
172TCF7_22412390_ChIP-Seq_EML_Mouse0.79411604
173OCT4_19829295_ChIP-Seq_ESCs_Human0.79247955
174CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.79234556
175ESET_19884257_ChIP-Seq_ESCs_Mouse0.79194465
176* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.78869018
177EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.78738772
178* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78635820
179* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.78187424
180* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.78185866
181KLF4_19829295_ChIP-Seq_ESCs_Human0.78069016
182TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77948171
183SMAD3_21741376_ChIP-Seq_ESCs_Human0.77909710
184PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.76759182
185NFYB_21822215_ChIP-Seq_K562_Human0.76474670
186BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.75751579
187* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.74592187
188TBL1_22424771_ChIP-Seq_293T_Human0.73964605
189CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.73949706
190DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.73868246

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology6.45801661
2MP0003698_abnormal_male_reproductive5.70300504
3MP0001929_abnormal_gametogenesis5.28575738
4MP0008877_abnormal_DNA_methylation5.27119854
5MP0002653_abnormal_ependyma_morphology3.78003326
6MP0002210_abnormal_sex_determination3.65809799
7MP0002161_abnormal_fertility/fecundity3.14756212
8MP0001145_abnormal_male_reproductive3.12174233
9MP0008004_abnormal_stomach_pH2.71063498
10MP0000653_abnormal_sex_gland2.69126111
11MP0002736_abnormal_nociception_after2.54348845
12MP0003718_maternal_effect2.53952021
13MP0009697_abnormal_copulation2.40143189
14MP0005083_abnormal_biliary_tract2.23890185
15MP0000465_gastrointestinal_hemorrhage2.00492301
16MP0005670_abnormal_white_adipose2.00217228
17MP0005410_abnormal_fertilization14.3066722
18MP0005623_abnormal_meninges_morphology1.97691542
19MP0002160_abnormal_reproductive_system1.93481158
20MP0005084_abnormal_gallbladder_morpholo1.89789575
21MP0005646_abnormal_pituitary_gland1.88251838
22MP0006036_abnormal_mitochondrial_physio1.79844318
23MP0003186_abnormal_redox_activity1.70051504
24MP0001968_abnormal_touch/_nociception1.67799643
25MP0000569_abnormal_digit_pigmentation1.66461492
26MP0002938_white_spotting1.65738927
27MP0008872_abnormal_physiological_respon1.64897559
28MP0003806_abnormal_nucleotide_metabolis1.64205960
29MP0002282_abnormal_trachea_morphology1.61872064
30MP0010094_abnormal_chromosome_stability1.57814481
31MP0004233_abnormal_muscle_weight1.54852130
32MP0008057_abnormal_DNA_replication1.51126639
33MP0005645_abnormal_hypothalamus_physiol1.49175664
34MP0001879_abnormal_lymphatic_vessel1.46934328
35MP0008058_abnormal_DNA_repair1.43832127
36MP0003136_yellow_coat_color1.41483678
37MP0003646_muscle_fatigue1.39012461
38MP0005501_abnormal_skin_physiology1.33460815
39MP0006292_abnormal_olfactory_placode1.32973618
40MP0002132_abnormal_respiratory_system1.30890606
41MP0003111_abnormal_nucleus_morphology1.27221783
42MP0003638_abnormal_response/metabolism_1.26104462
43MP0009053_abnormal_anal_canal1.25614209
44MP0008995_early_reproductive_senescence1.25195970
45MP0006035_abnormal_mitochondrial_morpho1.25125291
46MP0010030_abnormal_orbit_morphology1.23973367
47MP0009379_abnormal_foot_pigmentation1.22972061
48MP0006276_abnormal_autonomic_nervous1.19657685
49MP0003115_abnormal_respiratory_system1.18687997
50MP0008789_abnormal_olfactory_epithelium1.18469380
51MP0005499_abnormal_olfactory_system1.17462126
52MP0005394_taste/olfaction_phenotype1.17462126
53MP0001905_abnormal_dopamine_level1.11083469
54MP0000230_abnormal_systemic_arterial1.08697979
55MP0009278_abnormal_bone_marrow1.02873551
56MP0008007_abnormal_cellular_replicative1.02017780
57MP0004147_increased_porphyrin_level1.00282230
58MP0003937_abnormal_limbs/digits/tail_de1.00124588
59MP0002733_abnormal_thermal_nociception0.99342316
60MP0001529_abnormal_vocalization0.97569159
61MP0005389_reproductive_system_phenotype0.97449079
62MP0008775_abnormal_heart_ventricle0.96438453
63MP0001293_anophthalmia0.95241443
64MP0005187_abnormal_penis_morphology0.94463876
65MP0000631_abnormal_neuroendocrine_gland0.94330170
66MP0009780_abnormal_chondrocyte_physiolo0.92493351
67MP0008961_abnormal_basal_metabolism0.90795887
68MP0000049_abnormal_middle_ear0.90426238
69MP0004142_abnormal_muscle_tone0.89531173
70MP0002163_abnormal_gland_morphology0.89520837
71MP0001286_abnormal_eye_development0.86028082
72MP0003077_abnormal_cell_cycle0.85606162
73MP0001730_embryonic_growth_arrest0.85596671
74MP0005377_hearing/vestibular/ear_phenot0.85228653
75MP0003878_abnormal_ear_physiology0.85228653
76MP0004808_abnormal_hematopoietic_stem0.83747394
77MP0003122_maternal_imprinting0.83021787
78MP0002233_abnormal_nose_morphology0.81241500
79MP0008875_abnormal_xenobiotic_pharmacok0.81143121
80MP0001984_abnormal_olfaction0.80659298
81MP0002234_abnormal_pharynx_morphology0.80298511
82MP0005167_abnormal_blood-brain_barrier0.79728446
83MP0000678_abnormal_parathyroid_gland0.79371207
84MP0001919_abnormal_reproductive_system0.76450370
85MP0003315_abnormal_perineum_morphology0.76286970
86MP0001545_abnormal_hematopoietic_system0.75705296
87MP0005397_hematopoietic_system_phenotyp0.75705296
88MP0005647_abnormal_sex_gland0.75485381
89MP0005171_absent_coat_pigmentation0.74880529
90MP0000358_abnormal_cell_content/0.73093911
91MP0002084_abnormal_developmental_patter0.73027662
92MP0010329_abnormal_lipoprotein_level0.72550995
93MP0000372_irregular_coat_pigmentation0.72408585
94MP0001765_abnormal_ion_homeostasis0.71801938
95MP0003567_abnormal_fetal_cardiomyocyte0.70619030
96MP0002928_abnormal_bile_duct0.70483180
97MP0003786_premature_aging0.70163270
98MP0005076_abnormal_cell_differentiation0.69705493
99MP0001346_abnormal_lacrimal_gland0.68811178
100MP0004215_abnormal_myocardial_fiber0.68384963
101MP0010307_abnormal_tumor_latency0.66311060
102MP0003879_abnormal_hair_cell0.63267960
103MP0003385_abnormal_body_wall0.62623599
104MP0003861_abnormal_nervous_system0.61092921
105MP0003787_abnormal_imprinting0.60863835
106MP0001672_abnormal_embryogenesis/_devel0.60279789
107MP0005380_embryogenesis_phenotype0.60279789
108MP0003942_abnormal_urinary_system0.59331993
109MP0001697_abnormal_embryo_size0.59084661
110MP0004197_abnormal_fetal_growth/weight/0.58505224
111MP0004264_abnormal_extraembryonic_tissu0.57455885
112MP0009672_abnormal_birth_weight0.56836012
113MP0000534_abnormal_ureter_morphology0.56615872
114MP0003699_abnormal_female_reproductive0.56126396
115MP0002092_abnormal_eye_morphology0.55745848
116MP0002085_abnormal_embryonic_tissue0.54739929
117MP0003693_abnormal_embryo_hatching0.53739955
118MP0003984_embryonic_growth_retardation0.52020338
119MP0000313_abnormal_cell_death0.51580797
120MP0004133_heterotaxia0.50582056
121MP0005666_abnormal_adipose_tissue0.50447184
122MP0005391_vision/eye_phenotype0.50271569
123MP0002088_abnormal_embryonic_growth/wei0.49945899
124MP0002080_prenatal_lethality0.49510887
125MP0001849_ear_inflammation0.48568078
126MP0001324_abnormal_eye_pigmentation0.48258052
127MP0003890_abnormal_embryonic-extraembry0.48168868
128MP0000537_abnormal_urethra_morphology0.47774464
129MP0009703_decreased_birth_body0.47385064
130MP0009046_muscle_twitch0.46610451
131MP0003011_delayed_dark_adaptation0.43467387
132MP0003283_abnormal_digestive_organ0.41992422
133MP0001119_abnormal_female_reproductive0.41143738
134MP0003121_genomic_imprinting0.39542683
135MP0000350_abnormal_cell_proliferation0.39383330
136MP0002152_abnormal_brain_morphology0.39359890
137MP0002269_muscular_atrophy0.37671906
138MP0004957_abnormal_blastocyst_morpholog0.37414930
139MP0005253_abnormal_eye_physiology0.35609452
140MP0004134_abnormal_chest_morphology0.35531878
141MP0002086_abnormal_extraembryonic_tissu0.34433268
142MP0004811_abnormal_neuron_physiology0.32442987
143MP0003123_paternal_imprinting0.31148158
144MP0003119_abnormal_digestive_system0.30198327
145MP0002102_abnormal_ear_morphology0.29617181
146MP0002697_abnormal_eye_size0.29428054
147MP0003045_fibrosis0.29087151
148MP0000432_abnormal_head_morphology0.28131904
149MP0003943_abnormal_hepatobiliary_system0.27585467
150MP0008932_abnormal_embryonic_tissue0.26750035
151MP0009115_abnormal_fat_cell0.26684191
152MP0003935_abnormal_craniofacial_develop0.26306153
153MP0005636_abnormal_mineral_homeostasis0.24768063
154MP0002116_abnormal_craniofacial_bone0.24581386
155MP0001661_extended_life_span0.23077738
156MP0003936_abnormal_reproductive_system0.22854266
157MP0005375_adipose_tissue_phenotype0.22792032
158MP0004036_abnormal_muscle_relaxation0.22683357
159MP0008770_decreased_survivor_rate0.22275913

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)8.48320074
2Abnormal respiratory epithelium morphology (HP:0012253)8.28198427
3Abnormal respiratory motile cilium morphology (HP:0005938)8.28198427
4Rhinitis (HP:0012384)7.49710432
5Menorrhagia (HP:0000132)7.12932280
6Prolonged bleeding time (HP:0003010)6.93680196
7Chronic bronchitis (HP:0004469)6.83851119
8Increased mean platelet volume (HP:0011877)6.70096288
9Infertility (HP:0000789)6.51663364
10Abnormal ciliary motility (HP:0012262)6.38064932
11Nasal polyposis (HP:0100582)6.37863625
12Abnormal platelet volume (HP:0011876)5.87706635
13Petechiae (HP:0000967)5.82421502
14Purpura (HP:0000979)5.26510221
15Abnormality of the nasal mucosa (HP:0000433)5.21498172
16Nephronophthisis (HP:0000090)4.61942253
17Bronchitis (HP:0012387)4.59182118
18Bronchiectasis (HP:0002110)4.51718605
193-Methylglutaconic aciduria (HP:0003535)4.35260145
20Epistaxis (HP:0000421)4.12315836
21Male infertility (HP:0003251)3.88669300
22Hyperlipoproteinemia (HP:0010980)3.74344158
23Decreased activity of mitochondrial respiratory chain (HP:0008972)3.55955545
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.55955545
25Abnormality of the renal medulla (HP:0100957)3.50901626
26Recurrent otitis media (HP:0000403)3.42522427
27Gonadotropin excess (HP:0000837)3.33365976
28Acanthocytosis (HP:0001927)3.32537392
29Renal Fanconi syndrome (HP:0001994)3.30593301
30Abnormality of the lower motor neuron (HP:0002366)3.23399947
31Impulsivity (HP:0100710)3.17601018
32Hyperthyroidism (HP:0000836)3.16808561
33Abnormal spermatogenesis (HP:0008669)3.15140722
34Recurrent bronchitis (HP:0002837)3.09402784
35Abnormal mitochondria in muscle tissue (HP:0008316)2.99317209
36Acute necrotizing encephalopathy (HP:0006965)2.97009970
37Gingival bleeding (HP:0000225)2.88964923
38Recurrent sinusitis (HP:0011108)2.87784595
39Generalized aminoaciduria (HP:0002909)2.87000242
40Impaired platelet aggregation (HP:0003540)2.81936403
41Abnormal platelet function (HP:0011869)2.81936403
42Tubulointerstitial nephritis (HP:0001970)2.77374289
43Poikilocytosis (HP:0004447)2.70458353
44Tubular atrophy (HP:0000092)2.70084063
45Acute encephalopathy (HP:0006846)2.66942077
46Heterotopia (HP:0002282)2.63265830
47Abnormal pupillary function (HP:0007686)2.61090571
48Abnormality of cells of the erythroid lineage (HP:0012130)2.60341747
49Paralysis (HP:0003470)2.59013533
50Amyotrophic lateral sclerosis (HP:0007354)2.53994630
51Abnormal number of erythroid precursors (HP:0012131)2.53192218
52Mitochondrial inheritance (HP:0001427)2.52390247
53Abnormality of midbrain morphology (HP:0002418)2.51138038
54Molar tooth sign on MRI (HP:0002419)2.51138038
55Increased intramyocellular lipid droplets (HP:0012240)2.49937272
56Increased hepatocellular lipid droplets (HP:0006565)2.46271213
57Lipid accumulation in hepatocytes (HP:0006561)2.43850275
58Hypoplasia of the capital femoral epiphysis (HP:0003090)2.39652524
59Tubulointerstitial abnormality (HP:0001969)2.37502320
60Upper limb muscle weakness (HP:0003484)2.36511267
61Macrocytic anemia (HP:0001972)2.35795657
62Hepatic necrosis (HP:0002605)2.35370769
63Abnormality of lateral ventricle (HP:0030047)2.32427608
64Tinnitus (HP:0000360)2.27182755
65Exertional dyspnea (HP:0002875)2.24506723
66Fibular hypoplasia (HP:0003038)2.21639433
67Increased CSF lactate (HP:0002490)2.20894683
68Aplasia/Hypoplasia of the sacrum (HP:0008517)2.17897334
69Azoospermia (HP:0000027)2.17662771
70Increased muscle lipid content (HP:0009058)2.16499871
71Abnormality of the heme biosynthetic pathway (HP:0010472)2.16158244
72Short ribs (HP:0000773)2.14164923
73Progressive macrocephaly (HP:0004481)2.12604170
74Postaxial foot polydactyly (HP:0001830)2.12454737
75Spastic tetraparesis (HP:0001285)2.12044561
76Abnormality of alanine metabolism (HP:0010916)2.11866252
77Hyperalaninemia (HP:0003348)2.11866252
78Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.11866252
79Decreased central vision (HP:0007663)2.09654172
80Abnormality of methionine metabolism (HP:0010901)2.05471330
81Truncus arteriosus (HP:0001660)2.04667670
82Reticulocytopenia (HP:0001896)2.04642023
83Absent frontal sinuses (HP:0002688)2.03116674
84Medial flaring of the eyebrow (HP:0010747)2.01853985
85Hepatocellular necrosis (HP:0001404)2.00157689
86Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.6636661
87Absent/shortened dynein arms (HP:0200106)11.8727921
88Dynein arm defect of respiratory motile cilia (HP:0012255)11.8727921
89Abnormality of renal resorption (HP:0011038)1.98499834
90Stage 5 chronic kidney disease (HP:0003774)1.90848297
91Tubulointerstitial fibrosis (HP:0005576)1.90755313
92Bell-shaped thorax (HP:0001591)1.90680220
93Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.90649434
94Absent epiphyses (HP:0010577)1.90649434
95Renal dysplasia (HP:0000110)1.89312945
96Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.88488142
97Thyroid-stimulating hormone excess (HP:0002925)1.86832315
98Type I transferrin isoform profile (HP:0003642)1.86647816
99Congenital hepatic fibrosis (HP:0002612)1.84486489
100Facial cleft (HP:0002006)1.82262587
101Cholecystitis (HP:0001082)1.80022060
102Abnormal gallbladder physiology (HP:0012438)1.80022060
103Pallor (HP:0000980)1.75997778
104Absent thumb (HP:0009777)1.75263348
105Abnormality of the common coagulation pathway (HP:0010990)1.75242964
106Rectal fistula (HP:0100590)1.74991425
107Rectovaginal fistula (HP:0000143)1.74991425
108Increased serum lactate (HP:0002151)1.74149954
109Impaired proprioception (HP:0010831)1.73284044
110Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.72990219
111Abnormality of sulfur amino acid metabolism (HP:0004339)1.71555837
112Abnormal protein glycosylation (HP:0012346)1.71106875
113Abnormal glycosylation (HP:0012345)1.71106875
114Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.71106875
115Abnormal protein N-linked glycosylation (HP:0012347)1.71106875
116Abnormal drinking behavior (HP:0030082)1.70881931
117Polydipsia (HP:0001959)1.70881931
118Hypophosphatemic rickets (HP:0004912)1.69159569
119Enlarged kidneys (HP:0000105)1.68581658
120Renal cortical cysts (HP:0000803)1.68175632
121Tongue fasciculations (HP:0001308)1.67619489
122Oculomotor apraxia (HP:0000657)1.67536281
123Abnormality of the renal cortex (HP:0011035)1.67529729
124Congenital, generalized hypertrichosis (HP:0004540)1.67369229
125Cerebral edema (HP:0002181)1.66714833
126Deformed sella turcica (HP:0002681)1.66364532
127Irregular epiphyses (HP:0010582)1.66174316
128Microglossia (HP:0000171)1.65569440
129Short thorax (HP:0010306)1.64800280
130Dyschromatopsia (HP:0007641)1.64636434
131Abnormality of the anterior horn cell (HP:0006802)1.64461140
132Degeneration of anterior horn cells (HP:0002398)1.64461140
133Breast hypoplasia (HP:0003187)1.64272548
134Aplastic anemia (HP:0001915)1.63773029
135Supernumerary spleens (HP:0009799)1.63432459
136Abnormal auditory evoked potentials (HP:0006958)1.62631664
137Abnormal biliary tract physiology (HP:0012439)1.61515497
138Bile duct proliferation (HP:0001408)1.61515497
139Homocystinuria (HP:0002156)1.60946125
140Abnormality of homocysteine metabolism (HP:0010919)1.60946125
141Methylmalonic acidemia (HP:0002912)1.60050078
142Lactic acidosis (HP:0003128)1.59992104
143Broad distal phalanx of finger (HP:0009836)1.59098732
144Central scotoma (HP:0000603)1.58740042
145Postaxial hand polydactyly (HP:0001162)1.56424896
146Unilateral renal agenesis (HP:0000122)1.55543873
147Abnormality of dentin (HP:0010299)1.55395155
148Choroideremia (HP:0001139)1.54322537
149Truncal obesity (HP:0001956)1.52896343
150Upper motor neuron abnormality (HP:0002127)1.52802018
151Renovascular hypertension (HP:0100817)1.48396686
152Cystic liver disease (HP:0006706)1.48294590
153Abnormality of the dental root (HP:0006486)1.47016117
154Taurodontia (HP:0000679)1.47016117
155Abnormality of permanent molar morphology (HP:0011071)1.47016117
156Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.46672849
157Abnormality of ocular smooth pursuit (HP:0000617)1.44063724
158Median cleft lip (HP:0000161)1.43814885
159J-shaped sella turcica (HP:0002680)1.43713095
160Abnormality of renal excretion (HP:0011036)1.39392461
16111 pairs of ribs (HP:0000878)1.34815451
162Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.34793976
163Aplasia/Hypoplasia of the fibula (HP:0006492)1.33812811
164Pachygyria (HP:0001302)1.33362282
165Abnormality of molar morphology (HP:0011070)1.32303759
166Abnormality of molar (HP:0011077)1.32303759
167Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.32302271
168Ectopic kidney (HP:0000086)1.32264605
169Abnormality of the dental pulp (HP:0006479)1.32246750
170Short 4th metacarpal (HP:0010044)1.31939019
171Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.31939019
172Hemiparesis (HP:0001269)1.31841957
173Short femoral neck (HP:0100864)1.31730064
174Cerebellar dysplasia (HP:0007033)1.29561864
175Chronic sinusitis (HP:0011109)1.28757799
176High pitched voice (HP:0001620)1.27202811
177Abnormality of the epiphyses of the hand (HP:0005924)1.25974594
178Rhizomelia (HP:0008905)1.25634162
179Selective tooth agenesis (HP:0001592)1.23748558
180Nephropathy (HP:0000112)1.23526120

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK47.33317077
2PDK37.33317077
3TESK15.99226763
4PRKD35.54368707
5EIF2AK14.81344846
6ICK4.66861245
7PDK24.49584237
8MST44.45290040
9TLK13.88006614
10STK163.05235178
11BMX2.77941248
12PNCK2.65331871
13VRK22.58778523
14ZAK2.57796042
15MYLK2.47465538
16NEK22.43990937
17MAP4K22.25894360
18WNK42.23279338
19ILK2.23182465
20PTK2B2.14098095
21CDK82.02950732
22STK381.74551938
23STK391.70803011
24VRK11.65721543
25DYRK1B1.65166970
26RIPK41.61233460
27PLK21.54608476
28CDK191.53216133
29TEC1.49596264
30PIM21.42874023
31PASK1.38123729
32NUAK11.33884303
33DYRK21.30223754
34CDK121.30111114
35CDC71.29119224
36PLK31.28958307
37EEF2K1.28343439
38BTK1.24780439
39BMPR21.24719533
40TYRO31.19970478
41NME11.15399276
42CAMK1G1.14150907
43MAPK151.11251709
44MAP3K101.08736601
45WNK11.08608490
46CSNK1G31.04537948
47DYRK31.03457920
48STK31.00800668
49MAPKAPK30.99085642
50DAPK30.98266107
51GRK50.97359545
52TRIM280.97015573
53FLT30.93098052
54TAOK30.92163534
55GRK60.87465165
56TTK0.84979790
57PDK10.83412547
58MAP2K70.83016862
59CCNB10.82657042
60ADRBK20.79728205
61BCKDK0.79518074
62ATR0.77673878
63DAPK10.76403419
64MTOR0.74306770
65MAP3K40.74257730
66CHEK10.72319541
67CHEK20.70918953
68ARAF0.69688116
69NEK10.69366336
70CSNK1G10.68714538
71PHKG10.67589538
72PHKG20.67589538
73WEE10.65819501
74TRIB30.64722143
75MAP3K120.64606677
76CSNK1G20.63301673
77TESK20.62290825
78RPS6KB20.62043971
79CDK140.61139604
80ERBB20.60173115
81CSNK1A1L0.58560691
82BCR0.56594211
83ATM0.53629611
84MKNK10.53192544
85PKN10.50413638
86RPS6KA50.49629908
87SCYL20.49597818
88MARK20.46664908
89CDK11A0.44193227
90NTRK20.43688242
91PAK20.42597089
92PAK40.42176634
93SYK0.40820165
94MAPKAPK50.39902838
95CSNK1E0.38957035
96PLK10.38273511
97GRK10.38206190
98EPHB20.36558270
99PRKAA10.35540142
100BRAF0.35510919
101PRKCI0.35492683
102PAK10.35193690
103PDPK10.35039847
104TAOK10.34915834
105TAF10.34611579
106IRAK10.34219610
107STK40.33614772
108RIPK10.32510683
109CDK150.32498728
110CDK180.32316650
111CDK40.30449716
112LMTK20.29750335
113RPS6KB10.29495261
114PLK40.28617734
115MAP2K60.26567740
116CDK20.25513895
117BRD40.24890358
118BRSK10.22606280
119WNK30.22583321
120PINK10.22575906
121BMPR1B0.21524601
122SRPK10.21434788
123CAMKK10.20597253
124CDK10.20183063
125PTK60.19734194
126CDK60.18360397
127RPS6KA10.16636049
128STK100.16631079
129GSK3B0.16276408
130CSNK1D0.15575435
131LATS10.15333776
132PRKDC0.13246920
133CDK70.13079744
134STK38L0.12021590
135PDGFRB0.11547014
136CSF1R0.11429572
137ERN10.10650327
138MAPK80.10499922
139CAMK1D0.09513279
140AURKB0.09437274
141PRKCZ0.08179199
142BUB10.07922457
143PRKCG0.07558852
144AURKA0.07284780
145PIM10.06367688
146SIK20.05884002
147IRAK20.05856431
148MAPK10.05707630
149MAPK140.05602115
150STK110.05495920
151PAK60.04911445
152PRKD20.04250728
153PKN20.04059847
154EGFR0.03954712
155CDC42BPA0.03761066
156INSRR0.03589047
157MAPK100.03275783
158BRSK20.02972440
159RPS6KA30.02748176
160CDK90.02333283
161CSNK2A10.01938465
162CSNK2A20.01794635
163MAP4K10.01472224
164ZAP700.01392096

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030103.94352838
2Glycolysis / Gluconeogenesis_Homo sapiens_hsa000103.75247956
3Fatty acid biosynthesis_Homo sapiens_hsa000613.28507070
4Dorso-ventral axis formation_Homo sapiens_hsa043203.25921885
5Pyruvate metabolism_Homo sapiens_hsa006203.23039988
6Vitamin B6 metabolism_Homo sapiens_hsa007502.88972606
7Nucleotide excision repair_Homo sapiens_hsa034202.82658164
8Selenocompound metabolism_Homo sapiens_hsa004502.81965721
9Glucagon signaling pathway_Homo sapiens_hsa049222.80877107
10Oxidative phosphorylation_Homo sapiens_hsa001902.76658658
11Parkinsons disease_Homo sapiens_hsa050122.63211687
12Fanconi anemia pathway_Homo sapiens_hsa034602.46208464
13Sulfur relay system_Homo sapiens_hsa041222.41034053
14Basal transcription factors_Homo sapiens_hsa030222.40705969
15mRNA surveillance pathway_Homo sapiens_hsa030152.33647034
16RNA polymerase_Homo sapiens_hsa030202.31308116
17Oocyte meiosis_Homo sapiens_hsa041142.31169599
18Carbohydrate digestion and absorption_Homo sapiens_hsa049732.28264489
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.27106845
20Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.22475648
21RNA transport_Homo sapiens_hsa030132.13934453
22Propanoate metabolism_Homo sapiens_hsa006402.11928715
23One carbon pool by folate_Homo sapiens_hsa006702.08801137
24Linoleic acid metabolism_Homo sapiens_hsa005912.05242338
25Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.02171759
26Platelet activation_Homo sapiens_hsa046112.01698054
27Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.91583591
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.82877175
29Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.81126647
30Glycerolipid metabolism_Homo sapiens_hsa005611.75908802
31Fatty acid elongation_Homo sapiens_hsa000621.74598431
32Pentose phosphate pathway_Homo sapiens_hsa000301.69581682
33Proteasome_Homo sapiens_hsa030501.65707045
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.65076003
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.64445968
36Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.52637952
37Protein export_Homo sapiens_hsa030601.52476459
38SNARE interactions in vesicular transport_Homo sapiens_hsa041301.52278729
39Amphetamine addiction_Homo sapiens_hsa050311.45068299
40Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.38195220
41Antigen processing and presentation_Homo sapiens_hsa046121.38130503
42PPAR signaling pathway_Homo sapiens_hsa033201.37622250
43Alzheimers disease_Homo sapiens_hsa050101.32860771
44Sulfur metabolism_Homo sapiens_hsa009201.32334303
45Fructose and mannose metabolism_Homo sapiens_hsa000511.30529195
46Glycerophospholipid metabolism_Homo sapiens_hsa005641.28700081
47Collecting duct acid secretion_Homo sapiens_hsa049661.28305434
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.25351686
49Hedgehog signaling pathway_Homo sapiens_hsa043401.23501537
50Cysteine and methionine metabolism_Homo sapiens_hsa002701.20938273
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.19748394
52Nitrogen metabolism_Homo sapiens_hsa009101.17735217
53Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.11117010
54Fat digestion and absorption_Homo sapiens_hsa049751.09887713
55Central carbon metabolism in cancer_Homo sapiens_hsa052301.07096800
56Arachidonic acid metabolism_Homo sapiens_hsa005901.04317952
57Renin secretion_Homo sapiens_hsa049241.03811152
58Carbon metabolism_Homo sapiens_hsa012001.03026270
59Systemic lupus erythematosus_Homo sapiens_hsa053221.01421029
60Cell cycle_Homo sapiens_hsa041100.97087393
61Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.96848180
62Estrogen signaling pathway_Homo sapiens_hsa049150.96606650
63Fatty acid metabolism_Homo sapiens_hsa012120.93686315
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.92235701
65Steroid biosynthesis_Homo sapiens_hsa001000.89757951
66Basal cell carcinoma_Homo sapiens_hsa052170.88736719
67AMPK signaling pathway_Homo sapiens_hsa041520.87945439
68Glycosaminoglycan degradation_Homo sapiens_hsa005310.87281891
69Long-term potentiation_Homo sapiens_hsa047200.86524892
70ECM-receptor interaction_Homo sapiens_hsa045120.85134915
71DNA replication_Homo sapiens_hsa030300.83888509
72RNA degradation_Homo sapiens_hsa030180.83677078
73Olfactory transduction_Homo sapiens_hsa047400.83534831
74Huntingtons disease_Homo sapiens_hsa050160.83072199
75Regulation of autophagy_Homo sapiens_hsa041400.82377821
76Fatty acid degradation_Homo sapiens_hsa000710.81909100
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81861714
78Purine metabolism_Homo sapiens_hsa002300.81390843
79ABC transporters_Homo sapiens_hsa020100.79508296
80N-Glycan biosynthesis_Homo sapiens_hsa005100.79224179
81VEGF signaling pathway_Homo sapiens_hsa043700.77881231
82Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.76850981
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.75840800
84Biosynthesis of amino acids_Homo sapiens_hsa012300.75831720
85Lysine degradation_Homo sapiens_hsa003100.74965926
86beta-Alanine metabolism_Homo sapiens_hsa004100.74182684
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.73423276
88Arginine and proline metabolism_Homo sapiens_hsa003300.72359103
89Adipocytokine signaling pathway_Homo sapiens_hsa049200.71842815
90Spliceosome_Homo sapiens_hsa030400.71661290
91Alcoholism_Homo sapiens_hsa050340.71546165
92Metabolic pathways_Homo sapiens_hsa011000.71274869
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.70872112
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.70819988
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70561468
96Viral carcinogenesis_Homo sapiens_hsa052030.70377236
97Phototransduction_Homo sapiens_hsa047440.67853708
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65811425
99Tyrosine metabolism_Homo sapiens_hsa003500.65535667
100Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.61876016
101Cardiac muscle contraction_Homo sapiens_hsa042600.61744378
102Steroid hormone biosynthesis_Homo sapiens_hsa001400.61024905
103Endocytosis_Homo sapiens_hsa041440.60863441
104Ether lipid metabolism_Homo sapiens_hsa005650.59216413
105Insulin secretion_Homo sapiens_hsa049110.58976352
106Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.57755266
107Mineral absorption_Homo sapiens_hsa049780.57547313
108Serotonergic synapse_Homo sapiens_hsa047260.57358658
109Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57245459
110Base excision repair_Homo sapiens_hsa034100.56817199
111Wnt signaling pathway_Homo sapiens_hsa043100.55851179
112Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55768030
113Homologous recombination_Homo sapiens_hsa034400.54855678
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54782683
115Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54764135
116Legionellosis_Homo sapiens_hsa051340.53800187
117Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.53117598
118Gap junction_Homo sapiens_hsa045400.52790098
119Chemical carcinogenesis_Homo sapiens_hsa052040.52652361
120Thyroid hormone synthesis_Homo sapiens_hsa049180.51704322
121Inositol phosphate metabolism_Homo sapiens_hsa005620.51527447
122B cell receptor signaling pathway_Homo sapiens_hsa046620.50502236
123Type II diabetes mellitus_Homo sapiens_hsa049300.50160692
124Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49497810
125Drug metabolism - other enzymes_Homo sapiens_hsa009830.46887262
126Insulin resistance_Homo sapiens_hsa049310.45947257
127p53 signaling pathway_Homo sapiens_hsa041150.44400094
128Shigellosis_Homo sapiens_hsa051310.43263772
129mTOR signaling pathway_Homo sapiens_hsa041500.39556953
130Starch and sucrose metabolism_Homo sapiens_hsa005000.37901276
131Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.37816918
132HTLV-I infection_Homo sapiens_hsa051660.37632273
133Protein digestion and absorption_Homo sapiens_hsa049740.37533710
134Bile secretion_Homo sapiens_hsa049760.37356788
135Vibrio cholerae infection_Homo sapiens_hsa051100.37259466
136Non-homologous end-joining_Homo sapiens_hsa034500.35857549
137Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33784512
138Pyrimidine metabolism_Homo sapiens_hsa002400.33561870
139Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.33162593
140Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.32735577
141Notch signaling pathway_Homo sapiens_hsa043300.31487261
142Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31402003
143Retinol metabolism_Homo sapiens_hsa008300.31241095
144Galactose metabolism_Homo sapiens_hsa000520.31039328
145Mismatch repair_Homo sapiens_hsa034300.30700150
146Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30617764
147Glutathione metabolism_Homo sapiens_hsa004800.30296918
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30260351
149Peroxisome_Homo sapiens_hsa041460.29952807
150Insulin signaling pathway_Homo sapiens_hsa049100.29310125
151Epstein-Barr virus infection_Homo sapiens_hsa051690.29256920
152Calcium signaling pathway_Homo sapiens_hsa040200.28802253
153Renin-angiotensin system_Homo sapiens_hsa046140.24949356
154Cocaine addiction_Homo sapiens_hsa050300.24903691
155Hippo signaling pathway_Homo sapiens_hsa043900.23711543
156cAMP signaling pathway_Homo sapiens_hsa040240.23231508
157T cell receptor signaling pathway_Homo sapiens_hsa046600.22444432
158Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19408726
159Butanoate metabolism_Homo sapiens_hsa006500.17089381

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