PCDHB8

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 is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)6.56135123
2COPI coating of Golgi vesicle (GO:0048205)6.56135123
3vocalization behavior (GO:0071625)5.15749730
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.95856920
5locomotory exploration behavior (GO:0035641)4.88880103
6neuron cell-cell adhesion (GO:0007158)4.77416720
7ionotropic glutamate receptor signaling pathway (GO:0035235)4.56945545
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.54746201
9behavioral response to cocaine (GO:0048148)4.53684015
10protein localization to synapse (GO:0035418)4.49979876
11regulation of short-term neuronal synaptic plasticity (GO:0048172)4.49578909
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.38965505
13glutamate receptor signaling pathway (GO:0007215)4.38451821
14adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)4.37779780
15neurotransmitter-gated ion channel clustering (GO:0072578)4.37368503
16protein retention in ER lumen (GO:0006621)4.35251638
17regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.29576151
18synaptic vesicle exocytosis (GO:0016079)4.26994957
19desmosome organization (GO:0002934)4.24238537
20prepulse inhibition (GO:0060134)4.23984182
21presynaptic membrane assembly (GO:0097105)4.23570898
22neuron-neuron synaptic transmission (GO:0007270)4.22220452
23maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.16073154
24synaptic transmission, dopaminergic (GO:0001963)4.15193287
25regulation of glutamate receptor signaling pathway (GO:1900449)4.01685115
26positive regulation of synapse maturation (GO:0090129)3.99227462
27response to histamine (GO:0034776)3.98464766
28exploration behavior (GO:0035640)3.90568808
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.90246796
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.86332368
31synaptic transmission, glutamatergic (GO:0035249)3.86202486
32postsynaptic membrane organization (GO:0001941)3.81627156
33regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.80702954
34regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.80702954
35dendritic spine morphogenesis (GO:0060997)3.80608157
36synaptic vesicle maturation (GO:0016188)3.79941661
37regulation of neurotransmitter uptake (GO:0051580)3.78640495
38regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.78411066
39axonal fasciculation (GO:0007413)3.75247555
40presynaptic membrane organization (GO:0097090)3.73179766
41neuron recognition (GO:0008038)3.72625496
42negative regulation of sodium ion transport (GO:0010766)3.70624588
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.62480576
44glutamate secretion (GO:0014047)3.61191814
45branching involved in mammary gland duct morphogenesis (GO:0060444)3.59927780
46long-term synaptic potentiation (GO:0060291)3.58724530
47neurotransmitter secretion (GO:0007269)3.54620862
48regulation of synapse maturation (GO:0090128)3.54139754
49regulation of cAMP-dependent protein kinase activity (GO:2000479)3.52970960
50G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.50754010
51regulation of synaptic vesicle exocytosis (GO:2000300)3.47265344
52negative regulation of cell size (GO:0045792)3.46971222
53COPII vesicle coating (GO:0048208)3.46933457
54synapse assembly (GO:0007416)3.46194323
55regulation of excitatory postsynaptic membrane potential (GO:0060079)3.45457362
56cytoskeletal anchoring at plasma membrane (GO:0007016)3.40029899
57biotin metabolic process (GO:0006768)3.39337427
58regulation of long-term neuronal synaptic plasticity (GO:0048169)3.36155041
59vesicle coating (GO:0006901)3.35549811
60semaphorin-plexin signaling pathway (GO:0071526)3.31518279
61gamma-aminobutyric acid signaling pathway (GO:0007214)3.30595277
62type B pancreatic cell proliferation (GO:0044342)3.28399960
63long term synaptic depression (GO:0060292)3.28197023
64positive regulation of membrane potential (GO:0045838)3.27949952
65regulation of postsynaptic membrane potential (GO:0060078)3.27648240
66gamma-aminobutyric acid transport (GO:0015812)3.25651738
67endothelial cell chemotaxis (GO:0035767)3.24909075
68striatum development (GO:0021756)3.19658200
69auditory behavior (GO:0031223)3.18765551
70activation of protein kinase A activity (GO:0034199)3.17618155
71negative regulation of norepinephrine secretion (GO:0010700)3.17000728
72mammary gland alveolus development (GO:0060749)3.16941534
73regulation of female receptivity (GO:0045924)3.16488909
74dopamine receptor signaling pathway (GO:0007212)3.16388505
75neuronal action potential propagation (GO:0019227)3.16033558
76establishment of nucleus localization (GO:0040023)3.15355944
77regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.14984815
78regulation of synapse structural plasticity (GO:0051823)3.14670085
79long-term memory (GO:0007616)3.14060849
80transmission of nerve impulse (GO:0019226)3.13061570
81innervation (GO:0060384)3.12671363
82positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.10375091
83positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.08999326
84epithelial cell maturation (GO:0002070)3.06617419
85regulation of neuronal synaptic plasticity (GO:0048168)3.06216421
86negative regulation of catecholamine secretion (GO:0033604)3.02273953
87synaptic vesicle endocytosis (GO:0048488)3.01441919
88synapse organization (GO:0050808)3.01290499
89female mating behavior (GO:0060180)3.01268304
90layer formation in cerebral cortex (GO:0021819)2.99485729
91regulation of cardioblast differentiation (GO:0051890)2.98946293
92regulation of synaptic transmission, glutamatergic (GO:0051966)2.98680558
93dendrite morphogenesis (GO:0048813)2.98365535
94epithelial cell-cell adhesion (GO:0090136)2.98223984
95cerebellar granule cell differentiation (GO:0021707)2.97626032
96regulation of synaptic vesicle transport (GO:1902803)2.97368358
97synaptic vesicle docking involved in exocytosis (GO:0016081)2.97351981
98prostate gland growth (GO:0060736)2.96956711
99insulin-like growth factor receptor signaling pathway (GO:0048009)2.96938989
100regulation of hippo signaling (GO:0035330)2.96545143
101purine nucleotide transport (GO:0015865)2.94409771
102learning (GO:0007612)2.94336894
103regulation of vesicle fusion (GO:0031338)2.93626172
104basement membrane organization (GO:0071711)2.92888160
105protein maturation by protein folding (GO:0022417)2.90225647
106regulation of dendritic spine morphogenesis (GO:0061001)2.89837025
107regulation of mammary gland epithelial cell proliferation (GO:0033599)2.89584048
108mammary gland epithelial cell differentiation (GO:0060644)2.88282598
109dendritic spine organization (GO:0097061)2.88014300
110mechanosensory behavior (GO:0007638)2.87983780
111regulation of synaptic plasticity (GO:0048167)2.86226926
112cell adhesion mediated by integrin (GO:0033627)2.85496635
113positive regulation of synapse assembly (GO:0051965)2.84288943
114regulation of voltage-gated calcium channel activity (GO:1901385)2.84278915
115iron ion import (GO:0097286)2.82911419
116lung vasculature development (GO:0060426)2.82541215
117membrane hyperpolarization (GO:0060081)2.81134742
118positive regulation of synaptic transmission, GABAergic (GO:0032230)2.81010022
119regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.80489132
120calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.79285403
121response to auditory stimulus (GO:0010996)2.77457883
122regulation of neurotransmitter transport (GO:0051588)2.76491791
123response to amphetamine (GO:0001975)2.76047310
124negative regulation of amine transport (GO:0051953)2.74972783
125membrane depolarization (GO:0051899)2.73575953
126cellular potassium ion homeostasis (GO:0030007)2.73190060
127neurotransmitter transport (GO:0006836)2.72930770
128bundle of His cell to Purkinje myocyte communication (GO:0086069)2.71899285
129regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.71066308
130dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.70932189
131central nervous system projection neuron axonogenesis (GO:0021952)2.70658248
132ear development (GO:0043583)2.69985941
133regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.69896032
134regulation of dendritic spine development (GO:0060998)2.68029479
135cardiac right ventricle morphogenesis (GO:0003215)2.67796429
136proline biosynthetic process (GO:0006561)2.67318277
137social behavior (GO:0035176)2.66477402
138intraspecies interaction between organisms (GO:0051703)2.66477402
139regulation of water loss via skin (GO:0033561)2.65877437
140ectoderm development (GO:0007398)2.65817794
141membrane budding (GO:0006900)2.65129896
142actin filament depolymerization (GO:0030042)2.64212915
143embryonic retina morphogenesis in camera-type eye (GO:0060059)2.56782208
144activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.55627906
145intestinal epithelial cell development (GO:0060576)2.54006593
146adherens junction assembly (GO:0034333)2.53893139
147positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.53569159
148focal adhesion assembly (GO:0048041)2.52766876
149cell-substrate adherens junction assembly (GO:0007045)2.52766876
150cellular copper ion homeostasis (GO:0006878)2.52634520
151muscle cell migration (GO:0014812)2.50163973
152macroautophagy (GO:0016236)2.48987595
153planar cell polarity pathway involved in neural tube closure (GO:0090179)2.39128086
154endocardial cushion development (GO:0003197)2.37604309
155prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.35675420
156atrioventricular valve morphogenesis (GO:0003181)2.35667038
157branching involved in prostate gland morphogenesis (GO:0060442)2.34911611
158skin morphogenesis (GO:0043589)2.34450873
159negative regulation of chondrocyte differentiation (GO:0032331)2.34081449
160adherens junction organization (GO:0034332)2.33786698
161mitotic cytokinesis (GO:0000281)2.33144588
162epithelial tube branching involved in lung morphogenesis (GO:0060441)2.32160382
163establishment of apical/basal cell polarity (GO:0035089)2.31223941
164polarized epithelial cell differentiation (GO:0030859)2.31011389
165gap junction assembly (GO:0016264)2.30355433
166regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.28741432
167paraxial mesoderm development (GO:0048339)2.28705751
168ovulation from ovarian follicle (GO:0001542)2.28507375
169regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.28136123
170protein hydroxylation (GO:0018126)2.27328416
171endoplasmic reticulum organization (GO:0007029)2.26810738
172asymmetric protein localization (GO:0008105)2.26406627
173tight junction assembly (GO:0070830)2.26337076
174embryonic camera-type eye morphogenesis (GO:0048596)2.25930262
175mitotic nuclear envelope reassembly (GO:0007084)2.24275347
176nuclear envelope reassembly (GO:0031468)2.24275347
177* homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156)2.24189540
178endocrine hormone secretion (GO:0060986)2.23801566
179membrane protein ectodomain proteolysis (GO:0006509)2.23629949
180negative regulation of cell fate specification (GO:0009996)2.23180061
181maternal placenta development (GO:0001893)2.22986435
182peptidyl-proline hydroxylation (GO:0019511)2.22446218
183heart valve morphogenesis (GO:0003179)2.20342601
184activation of Rac GTPase activity (GO:0032863)2.20071446
185NLS-bearing protein import into nucleus (GO:0006607)2.19777730
186norepinephrine metabolic process (GO:0042415)2.18493999
187growth hormone secretion (GO:0030252)2.18415130
188vascular endothelial growth factor signaling pathway (GO:0038084)2.18194791
189negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.17584378
190embryo implantation (GO:0007566)2.16905557
191ectodermal placode formation (GO:0060788)2.16387769
192regulation of histone H3-K27 methylation (GO:0061085)2.16148574
1934-hydroxyproline metabolic process (GO:0019471)2.14617389
194myoblast fusion (GO:0007520)2.14369138
195regulation of glucose import in response to insulin stimulus (GO:2001273)2.14168779
196activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.14050780
197cell-substrate junction assembly (GO:0007044)2.13679402

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_20079471_ChIP-ChIP_T-47D_Human5.26544878
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.31125317
3EZH2_22144423_ChIP-Seq_EOC_Human4.30257219
4GBX2_23144817_ChIP-Seq_PC3_Human4.09304101
5ESR2_21235772_ChIP-Seq_MCF-7_Human3.56977741
6ESR1_15608294_ChIP-ChIP_MCF-7_Human3.54056493
7ESR1_21235772_ChIP-Seq_MCF-7_Human3.36182135
8ZNF263_19887448_ChIP-Seq_K562_Human3.17224503
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10198393
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10102949
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.87019214
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86972472
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.67461152
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63974562
15TRIM28_21343339_ChIP-Seq_HEK293_Human2.54454573
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.50602091
17RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50159860
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50159860
19* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50025567
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49328606
21JARID2_20075857_ChIP-Seq_MESCs_Mouse2.48309691
22HIF1A_21447827_ChIP-Seq_MCF-7_Human2.46623316
23MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46610601
24TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.43338282
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.42897790
26ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.39667056
27* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31316230
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.27344379
29RACK7_27058665_Chip-Seq_MCF-7_Human2.20563626
30DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.18682217
31RARB_27405468_Chip-Seq_BRAIN_Mouse2.15635694
32REST_21632747_ChIP-Seq_MESCs_Mouse2.12418146
33EZH2_27294783_Chip-Seq_ESCs_Mouse2.10453022
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.10297217
35RNF2_27304074_Chip-Seq_ESCs_Mouse2.09819821
36SUZ12_27294783_Chip-Seq_ESCs_Mouse2.08849712
37PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.04497051
38DROSHA_22980978_ChIP-Seq_HELA_Human2.02045268
39STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.01301327
40RARG_19884340_ChIP-ChIP_MEFs_Mouse1.97007857
41FOXM1_23109430_ChIP-Seq_U2OS_Human1.94688153
42AR_21572438_ChIP-Seq_LNCaP_Human1.93817522
43NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.91056551
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.90089811
45SMAD4_21799915_ChIP-Seq_A2780_Human1.89023501
46ZFP57_27257070_Chip-Seq_ESCs_Mouse1.87760682
47MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.84929689
48HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.82827716
49ZNF274_21170338_ChIP-Seq_K562_Hela1.82551743
50TAF15_26573619_Chip-Seq_HEK293_Human1.81389366
51RUNX1_27514584_Chip-Seq_MCF-7_Human1.80201712
52SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.77400717
53CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.76782801
54CLOCK_20551151_ChIP-Seq_293T_Human1.76468531
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.75162715
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.74635126
57P300_19829295_ChIP-Seq_ESCs_Human1.74251310
58AR_21909140_ChIP-Seq_LNCAP_Human1.72373838
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.70822584
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.70393759
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.69063368
62PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.67692947
63KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.67470729
64REST_18959480_ChIP-ChIP_MESCs_Mouse1.64631717
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.64561649
66SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.63169577
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.58292280
68RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.57724651
69GATA3_24758297_ChIP-Seq_MCF-7_Human1.56484457
70SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.55918524
71SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.55918524
72ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.55481182
73ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.55326120
74KDM5A_27292631_Chip-Seq_BREAST_Human1.52672634
75NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52625965
76FUS_26573619_Chip-Seq_HEK293_Human1.52364173
77SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51741712
78CBX2_27304074_Chip-Seq_ESCs_Mouse1.50770711
79IKZF1_21737484_ChIP-ChIP_HCT116_Human1.49563242
80TP53_16413492_ChIP-PET_HCT116_Human1.49508016
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49176883
82TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47296131
83RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.47028889
84FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.46994046
85TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.46001099
86CDX2_19796622_ChIP-Seq_MESCs_Mouse1.45924090
87GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45686802
88TP53_18474530_ChIP-ChIP_U2OS_Human1.43017216
89SOX2_21211035_ChIP-Seq_LN229_Gbm1.42684408
90CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.41774085
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.41414030
92POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.40991422
93NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40705387
94BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40604239
95TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.40196831
96CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.39446542
97ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.38739111
98ATF3_27146783_Chip-Seq_COLON_Human1.38450608
99CHD1_26751641_Chip-Seq_LNCaP_Human1.35761026
100AR_25329375_ChIP-Seq_VCAP_Human1.35490152
101P300_27058665_Chip-Seq_ZR-75-30cells_Human1.34484781
102STAT3_23295773_ChIP-Seq_U87_Human1.33815179
103ZFX_18555785_ChIP-Seq_MESCs_Mouse1.33426551
104ZNF217_24962896_ChIP-Seq_MCF-7_Human1.32540641
105PKCTHETA_26484144_Chip-Seq_BREAST_Human1.27329671
106RNF2_27304074_Chip-Seq_NSC_Mouse1.27187049
107AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27115229
108RING1B_27294783_Chip-Seq_ESCs_Mouse1.26945508
109* ERG_21242973_ChIP-ChIP_JURKAT_Human1.26640110
110ELK3_25401928_ChIP-Seq_HUVEC_Human1.26165141
111ARNT_22903824_ChIP-Seq_MCF-7_Human1.24278640
112GATA6_25053715_ChIP-Seq_YYC3_Human1.23677460
113EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.23481321
114AR_19668381_ChIP-Seq_PC3_Human1.23171525
115RING1B_27294783_Chip-Seq_NPCs_Mouse1.22500616
116SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.21794595
117IGF1R_20145208_ChIP-Seq_DFB_Human1.21674552
118TCF4_23295773_ChIP-Seq_U87_Human1.21190328
119ELF5_23300383_ChIP-Seq_T47D_Human1.20990283
120BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.19637672
121TET1_21451524_ChIP-Seq_MESCs_Mouse1.19430441
122YAP1_20516196_ChIP-Seq_MESCs_Mouse1.18961814
123NR3C1_21868756_ChIP-Seq_MCF10A_Human1.18724932
124CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.18324077
125CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.17777363
126CDX2_20551321_ChIP-Seq_CACO-2_Human1.17600106
127RUNX2_22187159_ChIP-Seq_PCA_Human1.15142078
128DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.13700632
129WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13596407
130ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.13226005
131SOX2_27498859_Chip-Seq_STOMACH_Mouse1.12946919
132WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12693430
133TP53_22127205_ChIP-Seq_IMR90_Human1.12059910
134PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11730149
135AHR_22903824_ChIP-Seq_MCF-7_Human1.11232221
136POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10777808
137TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10777808
138NANOG_18555785_Chip-Seq_ESCs_Mouse1.10412719
139PRDM14_20953172_ChIP-Seq_ESCs_Human1.10404626
140KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.10342331
141TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09491387
142EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09270049
143ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.08953557
144UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08863976
145SOX17_20123909_ChIP-Seq_XEN_Mouse1.07890782
146ER_23166858_ChIP-Seq_MCF-7_Human1.07147232
147TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05861492
148NELFA_20434984_ChIP-Seq_ESCs_Mouse1.04777303
149MYCN_18555785_ChIP-Seq_MESCs_Mouse1.04535932
150SOX9_24532713_ChIP-Seq_HFSC_Mouse1.04031132
151CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03587436
152TET1_21490601_ChIP-Seq_MESCs_Mouse1.03413580
153MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.02084943
154SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.02018970
155ZFP281_27345836_Chip-Seq_ESCs_Mouse1.01949768
156KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.01748421
157KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01297567
158P53_22127205_ChIP-Seq_FIBROBLAST_Human1.00930879
159SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00742782
160BCAT_22108803_ChIP-Seq_LS180_Human1.00719459
161NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.00175109
162TP53_23651856_ChIP-Seq_MEFs_Mouse0.99762382
163PADI4_21655091_ChIP-ChIP_MCF-7_Human0.99525785
164SMAD4_21741376_ChIP-Seq_HESCs_Human0.97386709
165TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97302084
166SMAD3_21741376_ChIP-Seq_ESCs_Human0.96977654
167JUN_21703547_ChIP-Seq_K562_Human0.96843429
168NANOG_21062744_ChIP-ChIP_HESCs_Human0.96213858
169SMAD3_21741376_ChIP-Seq_HESCs_Human0.95533042
170TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.95260443
171EWS_26573619_Chip-Seq_HEK293_Human0.94625961
172LXR_22292898_ChIP-Seq_THP-1_Human0.94454457
173FOXA2_19822575_ChIP-Seq_HepG2_Human0.94290957
174SOX9_26525672_Chip-Seq_HEART_Mouse0.94099376
175VDR_22108803_ChIP-Seq_LS180_Human0.93903776
176ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.93424595
177EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92182055
178TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92124050
179SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.92010724
180KLF5_25053715_ChIP-Seq_YYC3_Human0.91885891
181TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.90565603
182CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.90068697
183TFEB_21752829_ChIP-Seq_HELA_Human0.89809835
184ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89264842
185TBX5_21415370_ChIP-Seq_HL-1_Mouse0.88080787
186ISL1_27105846_Chip-Seq_CPCs_Mouse0.88070740
187HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.87887165
188TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87671069
189UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.87242098
190CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87232292

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.26615031
2MP0003880_abnormal_central_pattern4.44736602
3MP0003635_abnormal_synaptic_transmissio3.63917588
4MP0002063_abnormal_learning/memory/cond3.09856098
5MP0009745_abnormal_behavioral_response3.09480463
6MP0003705_abnormal_hypodermis_morpholog3.07709709
7MP0001346_abnormal_lacrimal_gland2.98086084
8MP0001486_abnormal_startle_reflex2.96479476
9MP0004270_analgesia2.92440142
10MP0002254_reproductive_system_inflammat2.73680498
11MP0004264_abnormal_extraembryonic_tissu2.68540075
12MP0002064_seizures2.64247482
13MP0002572_abnormal_emotion/affect_behav2.48267078
14MP0005423_abnormal_somatic_nervous2.48205758
15MP0009046_muscle_twitch2.36330777
16MP0001501_abnormal_sleep_pattern2.29865028
17MP0002877_abnormal_melanocyte_morpholog2.27836457
18MP0002822_catalepsy2.22803788
19MP0001968_abnormal_touch/_nociception2.22759755
20MP0010386_abnormal_urinary_bladder2.15723258
21MP0002272_abnormal_nervous_system2.14187957
22MP0000778_abnormal_nervous_system2.08812209
23MP0009384_cardiac_valve_regurgitation2.07199836
24MP0002734_abnormal_mechanical_nocicepti2.06361874
25MP0004272_abnormal_basement_membrane1.92407685
26MP0002736_abnormal_nociception_after1.91933566
27MP0001440_abnormal_grooming_behavior1.91448277
28MP0002184_abnormal_innervation1.87005578
29MP0003566_abnormal_cell_adhesion1.85821063
30MP0002067_abnormal_sensory_capabilities1.80044801
31MP0002796_impaired_skin_barrier1.78133349
32MP0005551_abnormal_eye_electrophysiolog1.75100429
33MP0002733_abnormal_thermal_nociception1.74728637
34MP0006072_abnormal_retinal_apoptosis1.73968223
35MP0002098_abnormal_vibrissa_morphology1.73799830
36MP0002735_abnormal_chemical_nociception1.68194489
37MP0004885_abnormal_endolymph1.67841785
38MP0003123_paternal_imprinting1.64999589
39MP0001970_abnormal_pain_threshold1.63674605
40MP0000427_abnormal_hair_cycle1.63639443
41MP0005248_abnormal_Harderian_gland1.60324302
42MP0005408_hypopigmentation1.58264471
43MP0000627_abnormal_mammary_gland1.57967425
44MP0003941_abnormal_skin_development1.57832615
45MP0002557_abnormal_social/conspecific_i1.56790905
46MP0005257_abnormal_intraocular_pressure1.55916924
47MP0003122_maternal_imprinting1.52758877
48MP0002837_dystrophic_cardiac_calcinosis1.48969722
49MP0001984_abnormal_olfaction1.48546584
50MP0001502_abnormal_circadian_rhythm1.47053960
51MP0000013_abnormal_adipose_tissue1.46893162
52MP0009780_abnormal_chondrocyte_physiolo1.44967368
53MP0002909_abnormal_adrenal_gland1.44677202
54MP0005451_abnormal_body_composition1.42881199
55MP0002638_abnormal_pupillary_reflex1.41503982
56MP0000762_abnormal_tongue_morphology1.39516650
57MP0000955_abnormal_spinal_cord1.38665534
58MP0008569_lethality_at_weaning1.38079751
59MP0005501_abnormal_skin_physiology1.37199378
60MP0010678_abnormal_skin_adnexa1.36275350
61MP0001919_abnormal_reproductive_system1.35482771
62MP0005076_abnormal_cell_differentiation1.35214072
63MP0002882_abnormal_neuron_morphology1.34860284
64MP0002896_abnormal_bone_mineralization1.34377288
65MP0006276_abnormal_autonomic_nervous1.34359563
66MP0000462_abnormal_digestive_system1.33207245
67MP0005386_behavior/neurological_phenoty1.31945950
68MP0004924_abnormal_behavior1.31945950
69MP0000733_abnormal_muscle_development1.31668147
70MP0008438_abnormal_cutaneous_collagen1.31487519
71MP0001881_abnormal_mammary_gland1.31439008
72MP0004811_abnormal_neuron_physiology1.30676605
73MP0005187_abnormal_penis_morphology1.28067379
74MP0004142_abnormal_muscle_tone1.24433150
75MP0005058_abnormal_lysosome_morphology1.23366565
76MP0003315_abnormal_perineum_morphology1.21765247
77MP0002066_abnormal_motor_capabilities/c1.19935057
78MP0003329_amyloid_beta_deposits1.19738996
79MP0001529_abnormal_vocalization1.19477942
80MP0005253_abnormal_eye_physiology1.18175542
81MP0010352_gastrointestinal_tract_polyps1.16772738
82MP0001905_abnormal_dopamine_level1.15141488
83MP0003137_abnormal_impulse_conducting1.14672235
84MP0003183_abnormal_peptide_metabolism1.14447407
85MP0000579_abnormal_nail_morphology1.13692585
86MP0003950_abnormal_plasma_membrane1.13633146
87MP0000566_synostosis1.12423509
88MP0003091_abnormal_cell_migration1.12348100
89MP0003787_abnormal_imprinting1.11748075
90MP0005171_absent_coat_pigmentation1.11288507
91MP0000377_abnormal_hair_follicle1.09805321
92MP0003121_genomic_imprinting1.09465456
93MP0010234_abnormal_vibrissa_follicle1.07583829
94MP0005646_abnormal_pituitary_gland1.07443251
95MP0002697_abnormal_eye_size1.06785936
96MP0005083_abnormal_biliary_tract1.05695090
97MP0002152_abnormal_brain_morphology1.05308211
98MP0001849_ear_inflammation1.05267405
99MP0000750_abnormal_muscle_regeneration1.04744016
100MP0003191_abnormal_cellular_cholesterol1.03626057
101MP0000647_abnormal_sebaceous_gland1.02725366
102MP0004215_abnormal_myocardial_fiber1.02409973
103MP0002009_preneoplasia1.01965963
104MP0001188_hyperpigmentation1.01946649
105MP0003937_abnormal_limbs/digits/tail_de1.01631940
106MP0003634_abnormal_glial_cell1.01457500
107MP0000751_myopathy0.99619581
108MP0004782_abnormal_surfactant_physiolog0.98290513
109MP0004185_abnormal_adipocyte_glucose0.97501751
110MP0005623_abnormal_meninges_morphology0.96794671
111MP0001348_abnormal_lacrimal_gland0.96675201
112MP0004742_abnormal_vestibular_system0.96639277
113MP0009672_abnormal_birth_weight0.94867093
114MP0004085_abnormal_heartbeat0.94101742
115MP0003755_abnormal_palate_morphology0.93889788
116MP0003633_abnormal_nervous_system0.93648209
117MP0000767_abnormal_smooth_muscle0.92633865
118MP0002876_abnormal_thyroid_physiology0.92000496
119MP0000383_abnormal_hair_follicle0.91910408
120MP0002269_muscular_atrophy0.91350210
121MP0005197_abnormal_uvea_morphology0.91156282
122MP0002069_abnormal_eating/drinking_beha0.89735214
123MP0003936_abnormal_reproductive_system0.88435091
124MP0002752_abnormal_somatic_nervous0.88289219
125MP0003935_abnormal_craniofacial_develop0.88054815
126MP0000631_abnormal_neuroendocrine_gland0.86683969
127MP0003879_abnormal_hair_cell0.86571947
128MP0004858_abnormal_nervous_system0.86045986
129MP0001299_abnormal_eye_distance/0.85912812
130MP0003631_nervous_system_phenotype0.85640632
131MP0001177_atelectasis0.85251642
132MP0003385_abnormal_body_wall0.84714554
133MP0001340_abnormal_eyelid_morphology0.83742276
134MP0005409_darkened_coat_color0.83478795
135MP0001727_abnormal_embryo_implantation0.82576790
136MP0002090_abnormal_vision0.82496097
137MP0000534_abnormal_ureter_morphology0.82156044
138MP0003115_abnormal_respiratory_system0.81731884
139MP0004145_abnormal_muscle_electrophysio0.81692564
140MP0004197_abnormal_fetal_growth/weight/0.81314017
141MP0005195_abnormal_posterior_eye0.81296079
142MP0003136_yellow_coat_color0.79561453
143MP0003984_embryonic_growth_retardation0.79162324
144MP0001270_distended_abdomen0.79025884
145MP0005379_endocrine/exocrine_gland_phen0.78968964
146MP0002088_abnormal_embryonic_growth/wei0.78463434
147MP0004233_abnormal_muscle_weight0.78000812
148MP0002060_abnormal_skin_morphology0.77691199
149MP0003868_abnormal_feces_composition0.76560828
150MP0003632_abnormal_nervous_system0.76497084
151MP0002229_neurodegeneration0.76192883
152MP0002234_abnormal_pharynx_morphology0.74714113
153MP0005380_embryogenesis_phenotype0.73942360
154MP0001672_abnormal_embryogenesis/_devel0.73942360
155MP0001216_abnormal_epidermal_layer0.73784460
156MP0002108_abnormal_muscle_morphology0.73660396
157MP0002102_abnormal_ear_morphology0.73450226
158MP0002116_abnormal_craniofacial_bone0.72565721
159MP0009053_abnormal_anal_canal0.72221328
160MP0003942_abnormal_urinary_system0.72174618
161MP0000681_abnormal_thyroid_gland0.71910195
162MP0000920_abnormal_myelination0.71642561
163MP0000538_abnormal_urinary_bladder0.71487378
164MP0005499_abnormal_olfactory_system0.70841719
165MP0005394_taste/olfaction_phenotype0.70841719
166MP0002751_abnormal_autonomic_nervous0.69659708
167MP0000428_abnormal_craniofacial_morphol0.69610249
168MP0008961_abnormal_basal_metabolism0.69490722
169MP0010030_abnormal_orbit_morphology0.69394852
170MP0000163_abnormal_cartilage_morphology0.68643059
171MP0002160_abnormal_reproductive_system0.68468313
172MP0001485_abnormal_pinna_reflex0.68386953
173MP0001730_embryonic_growth_arrest0.68333139
174MP0001661_extended_life_span0.68188743
175MP0001664_abnormal_digestion0.67660034
176MP0000432_abnormal_head_morphology0.66990813
177MP0000537_abnormal_urethra_morphology0.65166681
178MP0005595_abnormal_vascular_smooth0.62125006
179MP0001963_abnormal_hearing_physiology0.61745672

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.52925509
2Broad-based gait (HP:0002136)4.86842430
3Epileptic encephalopathy (HP:0200134)4.84577519
4Hyperventilation (HP:0002883)4.75663843
5Myokymia (HP:0002411)4.62732713
6Focal seizures (HP:0007359)4.47211572
7Progressive cerebellar ataxia (HP:0002073)4.46704572
8Visual hallucinations (HP:0002367)4.15727116
9Blue irides (HP:0000635)3.84514117
10Protruding tongue (HP:0010808)3.80995932
11Excessive salivation (HP:0003781)3.73128889
12Drooling (HP:0002307)3.73128889
13Absent speech (HP:0001344)3.63708553
14Sparse lateral eyebrow (HP:0005338)3.53786085
15Febrile seizures (HP:0002373)3.53185283
16Hyperacusis (HP:0010780)3.52702071
17Absence seizures (HP:0002121)3.52665829
18Atonic seizures (HP:0010819)3.51992883
19Flat acetabular roof (HP:0003180)3.48625003
20Fair hair (HP:0002286)3.32801189
21Generalized tonic-clonic seizures (HP:0002069)3.25433830
22Genetic anticipation (HP:0003743)3.19599040
23Asymmetry of the thorax (HP:0001555)3.13306688
24Dialeptic seizures (HP:0011146)3.11549199
25Microglossia (HP:0000171)3.05858929
26Right ventricular cardiomyopathy (HP:0011663)3.03286080
27Aqueductal stenosis (HP:0002410)2.99388505
28Premature rupture of membranes (HP:0001788)2.92975779
29Epileptiform EEG discharges (HP:0011182)2.87483388
30Abnormality of the distal phalanges of the toes (HP:0010182)2.80249161
31Clumsiness (HP:0002312)2.79859877
32Generalized hypopigmentation of hair (HP:0011358)2.76283161
33Amblyopia (HP:0000646)2.75891532
34Congenital glaucoma (HP:0001087)2.72791194
35Curly hair (HP:0002212)2.72130508
36Concave nail (HP:0001598)2.70176789
37Abnormality of salivation (HP:0100755)2.67863774
38Short nail (HP:0001799)2.67363039
39Gaze-evoked nystagmus (HP:0000640)2.64002708
40Annular pancreas (HP:0001734)2.62998305
41Cervical subluxation (HP:0003308)2.62932202
42Exotropia (HP:0000577)2.61223461
43Inappropriate behavior (HP:0000719)2.60997618
44EEG with generalized epileptiform discharges (HP:0011198)2.57548519
45Mutism (HP:0002300)2.53733986
46Action tremor (HP:0002345)2.51934056
47Abnormality of the corticospinal tract (HP:0002492)2.51228989
48Broad face (HP:0000283)2.49439732
49Impaired vibration sensation in the lower limbs (HP:0002166)2.38981071
50Abnormality of the phalanges of the hallux (HP:0010057)2.37342819
51Advanced eruption of teeth (HP:0006288)2.37285277
52Exostoses (HP:0100777)2.36810803
53Congenital stationary night blindness (HP:0007642)2.36155759
54Hydroureter (HP:0000072)2.34835839
55Ankle clonus (HP:0011448)2.34425206
56Hypsarrhythmia (HP:0002521)2.34169088
57Vertebral compression fractures (HP:0002953)2.33761638
58Urinary bladder sphincter dysfunction (HP:0002839)2.33536347
59Megalencephaly (HP:0001355)2.33489276
60Depression (HP:0000716)2.30247402
61Central scotoma (HP:0000603)2.29697648
62Hemiparesis (HP:0001269)2.29275351
63Poor eye contact (HP:0000817)2.26987030
64Widely spaced teeth (HP:0000687)2.26446699
65Cerebral inclusion bodies (HP:0100314)2.25723175
66Truncal ataxia (HP:0002078)2.24835941
67Protrusio acetabuli (HP:0003179)2.24702076
68Gait imbalance (HP:0002141)2.22479823
69Open mouth (HP:0000194)2.20803361
70Dysdiadochokinesis (HP:0002075)2.19794477
71J-shaped sella turcica (HP:0002680)2.18550127
72Aplasia involving bones of the upper limbs (HP:0009823)2.17354359
73Aplasia of the phalanges of the hand (HP:0009802)2.17354359
74Aplasia involving bones of the extremities (HP:0009825)2.17354359
75Neoplasm of the heart (HP:0100544)2.15159963
76Abnormality of the proximal phalanges of the hand (HP:0009834)2.14462044
77Buphthalmos (HP:0000557)2.12523123
78Abnormality of the distal phalanx of the thumb (HP:0009617)2.10803801
79Dysmetria (HP:0001310)2.10553761
80Progressive inability to walk (HP:0002505)2.09478834
81Distal lower limb muscle weakness (HP:0009053)2.09432631
82Hypoventilation (HP:0002791)2.07396876
83Abnormal eating behavior (HP:0100738)2.06872936
84Slender build (HP:0001533)2.06618631
85Back pain (HP:0003418)2.05403810
86Anophthalmia (HP:0000528)2.04497298
87Abnormality of carpal bone ossification (HP:0006257)2.03833850
88Anxiety (HP:0000739)2.03052558
89Insomnia (HP:0100785)2.02249039
90Neurofibrillary tangles (HP:0002185)2.01930218
91Prolonged QT interval (HP:0001657)2.01795992
92Termporal pattern (HP:0011008)2.00015585
93Insidious onset (HP:0003587)2.00015585
94Shallow orbits (HP:0000586)1.99454350
95Supranuclear gaze palsy (HP:0000605)1.99319421
96Abnormal tarsal ossification (HP:0008369)1.99193472
97Thin bony cortex (HP:0002753)1.98744222
98Impaired smooth pursuit (HP:0007772)1.97655197
99Septate vagina (HP:0001153)1.97227585
100Labial hypoplasia (HP:0000066)1.97061506
101Torticollis (HP:0000473)1.96977973
102Mitral stenosis (HP:0001718)1.96819692
103Natal tooth (HP:0000695)1.95999596
104Abnormal social behavior (HP:0012433)1.94380788
105Impaired social interactions (HP:0000735)1.94380788
106Scanning speech (HP:0002168)1.93887400
107Coronal craniosynostosis (HP:0004440)1.93859748
108Overriding aorta (HP:0002623)1.93734646
109Breast carcinoma (HP:0003002)1.93512031
110Abnormality of the lower motor neuron (HP:0002366)1.93312611
111Arterial tortuosity (HP:0005116)1.92792962
112Oligodactyly (hands) (HP:0001180)1.92771267
113Testicular atrophy (HP:0000029)1.91920604
114Renovascular hypertension (HP:0100817)1.91184531
115Deep philtrum (HP:0002002)1.90671514
116Long toe (HP:0010511)1.90576852
117Spinal rigidity (HP:0003306)1.89811647
118Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.89230240
119Flattened epiphyses (HP:0003071)1.88689974
120Thickened helices (HP:0000391)1.87839629
121Deeply set eye (HP:0000490)1.86463872
122Agitation (HP:0000713)1.86100508
123Germ cell neoplasia (HP:0100728)1.84672597
124Distal lower limb amyotrophy (HP:0008944)1.84004552
125Oligomenorrhea (HP:0000876)1.83725127
126Abnormality of macular pigmentation (HP:0008002)1.83396490
127Abnormal ossification of hand bones (HP:0005921)1.83017585
128Abnormality of the gastric mucosa (HP:0004295)1.81227643
129Distal upper limb amyotrophy (HP:0007149)1.80464726
130Upper limb amyotrophy (HP:0009129)1.80464726
131Coxa vara (HP:0002812)1.80193327
132Congenital primary aphakia (HP:0007707)1.79635848
133Focal dystonia (HP:0004373)1.78945411
134Hand muscle atrophy (HP:0009130)1.78117511
135Patellar dislocation (HP:0002999)1.77954367
136Spinal cord compression (HP:0002176)1.76997067
137Osteolytic defects of the hand bones (HP:0009699)1.76500914
138Osteolytic defects of the phalanges of the hand (HP:0009771)1.76500914
139Polyphagia (HP:0002591)1.75994205
140Absent/shortened dynein arms (HP:0200106)1.75438805
141Dynein arm defect of respiratory motile cilia (HP:0012255)1.75438805
142Stereotypic behavior (HP:0000733)1.75276102
143Intellectual disability, severe (HP:0010864)1.75065788
144Menorrhagia (HP:0000132)1.75017350
145Fibular aplasia (HP:0002990)1.74384598
146Spastic gait (HP:0002064)1.73363777
147Abnormality of binocular vision (HP:0011514)1.72753104
148Diplopia (HP:0000651)1.72753104
149Hypopigmentation of the fundus (HP:0007894)1.72126245
150Infantile muscular hypotonia (HP:0008947)1.71511393
151Difficulty climbing stairs (HP:0003551)1.69956838
152Flat occiput (HP:0005469)1.69391454
153Urinary urgency (HP:0000012)1.69156450
154Progressive sensorineural hearing impairment (HP:0000408)1.68707555
155Elfin facies (HP:0004428)1.68069401
156Flat capital femoral epiphysis (HP:0003370)1.67830326
157Vascular tortuosity (HP:0004948)1.67642338
158Hepatoblastoma (HP:0002884)1.67541740
159Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.67116254
160Degeneration of the lateral corticospinal tracts (HP:0002314)1.67116254
161Autism (HP:0000717)1.67107406
162Osteoarthritis (HP:0002758)1.66963431
163Broad metatarsal (HP:0001783)1.66360211
164Abnormality of ocular smooth pursuit (HP:0000617)1.66335913
165Smooth philtrum (HP:0000319)1.66150047
166Intestinal atresia (HP:0011100)1.66116223
167Lymphangioma (HP:0100764)1.65969424
168Vaginal atresia (HP:0000148)1.65463661
169Abnormal hand bone ossification (HP:0010660)1.64664435
170Unilateral renal agenesis (HP:0000122)1.63988945
171Renal duplication (HP:0000075)1.63717642
172Abnormality of the acetabulum (HP:0003170)1.63235432
173Abnormality of the umbilical cord (HP:0010881)1.63195643
174Choroideremia (HP:0001139)1.62860418
175Ankle contracture (HP:0006466)1.62603820
176Precocious puberty (HP:0000826)1.61622344
177Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.61520573
178Achilles tendon contracture (HP:0001771)1.61237271
179Deformed sella turcica (HP:0002681)1.61222690
180Blue sclerae (HP:0000592)1.59922384
181Absent frontal sinuses (HP:0002688)1.59767757
182Limb-girdle muscle weakness (HP:0003325)1.56584647
183Entropion (HP:0000621)1.55742135
184Abnormality of nail color (HP:0100643)1.55670375
185Hypokinesia (HP:0002375)1.55438163
186Mildly elevated creatine phosphokinase (HP:0008180)1.55295226
187Biconcave vertebral bodies (HP:0004586)1.55097958
188Vascular calcification (HP:0004934)1.55028573
189Tented upper lip vermilion (HP:0010804)1.54467768
190Scapular winging (HP:0003691)1.54431088
191Cardiovascular calcification (HP:0011915)1.53836653
192Deviation of the thumb (HP:0009603)1.52617481
193Partial duplication of thumb phalanx (HP:0009944)1.52485387
194Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.52316299
195Short 1st metacarpal (HP:0010034)1.52316299
196Macroorchidism (HP:0000053)1.51425082

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.26380981
2EPHA44.20480249
3EPHA23.93723783
4TESK13.63805926
5CASK3.57313685
6NTRK33.08438015
7MAP3K43.08296679
8MARK13.01175274
9MST1R2.73557248
10LATS12.70792392
11MAP2K72.63628266
12PAK62.61723776
13MINK12.58206369
14PKN22.47675362
15LIMK12.47402023
16PTK2B2.17975021
17MAP3K92.15840085
18STK38L2.15724745
19EPHA32.12583460
20TESK22.08524900
21MAPKAPK32.06853929
22PLK22.02778548
23PRPF4B1.97895715
24SIK11.92156729
25TNIK1.86975196
26NTRK21.85966749
27FGFR41.77109132
28MAPK131.74006274
29ICK1.73543609
30KSR11.71149825
31GRK51.68684922
32FGFR21.67232949
33RIPK11.64436796
34PAK41.64072869
35MAP2K41.63693653
36TRIM281.63475466
37ERBB41.61937249
38CAMKK21.61764672
39PTK21.60650512
40STK381.54722453
41TYRO31.50080663
42ERBB31.44839997
43RIPK41.44063983
44CDK121.41514261
45CDK51.37560276
46CAMKK11.35665881
47SRPK11.34664664
48CAMK1D1.32645745
49SIK31.31998656
50NTRK11.30428420
51PHKG21.24794021
52PHKG11.24794021
53DAPK21.24662448
54EEF2K1.19088430
55EIF2AK11.17535262
56CAMK2B1.15199968
57MTOR1.13842407
58CAMK2A1.12929341
59PIM21.11681101
60EPHB11.10585108
61BCR1.06748848
62PTK61.06180175
63EPHB21.04824209
64SGK2231.04072994
65SGK4941.04072994
66UHMK11.02540649
67PRKCG1.02479352
68DYRK1A1.02278192
69SMG11.02139661
70CDK71.00352382
71RET1.00283980
72PRKD20.99851547
73TAOK10.97445680
74RPS6KB20.95876207
75AKT30.95595621
76NEK60.94780884
77PAK30.93579052
78CDK180.93277512
79FGR0.92591938
80PRKCI0.92533266
81IRAK30.91090861
82SGK20.89047923
83ARAF0.88294972
84CDK140.88108030
85WNK10.85893956
86CDK150.84482149
87CAMK2D0.83789904
88FES0.83472417
89ILK0.83005160
90DAPK10.80723232
91FER0.80414721
92TSSK60.80373575
93PDGFRB0.79509455
94KSR20.77566084
95MET0.74242149
96SGK30.74041931
97PRKD30.73614607
98CAMK2G0.72040143
99PKN10.71627325
100BMPR20.71481584
101LMTK20.71165528
102MYLK0.70637840
103FRK0.70005594
104CDK11A0.69993144
105MAP3K60.69208714
106CDK190.68764611
107LATS20.68046512
108ADRBK20.67642055
109CDC42BPA0.66376561
110SCYL20.65930906
111PRKCE0.64765974
112SGK10.64715728
113PRKCZ0.64088097
114VRK20.62538428
115OXSR10.61626471
116TTN0.60597744
117MUSK0.59111554
118MAP3K120.59105103
119PRKCH0.57489269
120SIK20.56148602
121NEK90.55353756
122BRD40.55228884
123NME20.53058383
124ROCK10.52346098
125CSNK1A1L0.51822709
126PIK3CA0.51688062
127FYN0.50064537
128RPS6KA40.49498964
129CAMK10.49452907
130STK110.48770676
131GRK70.47901422
132PBK0.46003038
133CAMK1G0.45896340
134BRSK10.44818017
135MARK20.44230320
136PRKD10.43842978
137ROCK20.43606024
138DYRK1B0.42515917
139ERN10.41849551
140AURKB0.41727712
141RPS6KA30.41519356
142IRAK20.40362893
143AURKA0.39926878
144CAMK40.39785664
145MAPK100.39174101
146CCNB10.39070481
147PDGFRA0.38873821
148DDR20.38568527
149PRKCB0.36738833
150CDK30.34916263
151RPS6KA20.34834890
152PRKACA0.34470983
153CDK80.34131112
154AKT20.32824645
155PAK20.32735589
156CDK60.31875896
157RPS6KB10.29947534
158DMPK0.29360512
159MAP2K10.27353745
160CSNK1G30.27104571

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.76238710
2Circadian entrainment_Homo sapiens_hsa047132.92893322
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.82589846
4GABAergic synapse_Homo sapiens_hsa047272.77891026
5Morphine addiction_Homo sapiens_hsa050322.61983974
6Glutamatergic synapse_Homo sapiens_hsa047242.58993577
7Dopaminergic synapse_Homo sapiens_hsa047282.50346641
8Long-term potentiation_Homo sapiens_hsa047202.45753607
9Amphetamine addiction_Homo sapiens_hsa050312.43066219
10Synaptic vesicle cycle_Homo sapiens_hsa047212.42538788
11Olfactory transduction_Homo sapiens_hsa047402.20035852
12Salivary secretion_Homo sapiens_hsa049702.12845361
13Long-term depression_Homo sapiens_hsa047301.95419160
14Insulin secretion_Homo sapiens_hsa049111.94999583
15Renin secretion_Homo sapiens_hsa049241.94500323
16Thyroid cancer_Homo sapiens_hsa052161.93685205
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.93163958
18Cholinergic synapse_Homo sapiens_hsa047251.85834867
19Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.80337755
20Taste transduction_Homo sapiens_hsa047421.77508804
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76758662
22Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.69368811
23Cocaine addiction_Homo sapiens_hsa050301.68365434
24Serotonergic synapse_Homo sapiens_hsa047261.67699391
25Gastric acid secretion_Homo sapiens_hsa049711.65822182
26Oxytocin signaling pathway_Homo sapiens_hsa049211.65263183
27Phototransduction_Homo sapiens_hsa047441.63970680
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61944601
29Calcium signaling pathway_Homo sapiens_hsa040201.60750424
30Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.53155246
31Axon guidance_Homo sapiens_hsa043601.52928124
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.52422387
33Hippo signaling pathway_Homo sapiens_hsa043901.52336281
34Gap junction_Homo sapiens_hsa045401.43406727
35Bladder cancer_Homo sapiens_hsa052191.43180198
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.40993529
37cAMP signaling pathway_Homo sapiens_hsa040241.40846834
38Adherens junction_Homo sapiens_hsa045201.40692063
39N-Glycan biosynthesis_Homo sapiens_hsa005101.40162041
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.38594078
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35099738
42Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34703504
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.28725369
44Proteoglycans in cancer_Homo sapiens_hsa052051.28649138
45GnRH signaling pathway_Homo sapiens_hsa049121.25832156
46AMPK signaling pathway_Homo sapiens_hsa041521.25480323
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.23212359
48ECM-receptor interaction_Homo sapiens_hsa045121.21011966
49Lysine degradation_Homo sapiens_hsa003101.17945704
50Chronic myeloid leukemia_Homo sapiens_hsa052201.16786983
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.10222044
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.10012607
53Vascular smooth muscle contraction_Homo sapiens_hsa042701.09948394
54Dilated cardiomyopathy_Homo sapiens_hsa054141.08450383
55Melanogenesis_Homo sapiens_hsa049161.07925998
56Pancreatic cancer_Homo sapiens_hsa052121.07741845
57Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.07179607
58Type II diabetes mellitus_Homo sapiens_hsa049301.07096071
59Prostate cancer_Homo sapiens_hsa052151.06921940
60ErbB signaling pathway_Homo sapiens_hsa040121.06607605
61Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.06467746
62Other glycan degradation_Homo sapiens_hsa005111.06195388
63Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.05935886
64Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.04004670
65Circadian rhythm_Homo sapiens_hsa047101.03423288
66Small cell lung cancer_Homo sapiens_hsa052221.03327857
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.01127580
68Steroid biosynthesis_Homo sapiens_hsa001001.00656685
69Endocytosis_Homo sapiens_hsa041440.99472759
70Sphingolipid metabolism_Homo sapiens_hsa006000.98587919
71Collecting duct acid secretion_Homo sapiens_hsa049660.97901619
72Estrogen signaling pathway_Homo sapiens_hsa049150.97436060
73Phosphatidylinositol signaling system_Homo sapiens_hsa040700.97385929
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.96843070
75Glioma_Homo sapiens_hsa052140.93274552
76Fatty acid elongation_Homo sapiens_hsa000620.92980269
77Biosynthesis of amino acids_Homo sapiens_hsa012300.92503051
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91304677
79Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.91286400
80Notch signaling pathway_Homo sapiens_hsa043300.90364689
81Vibrio cholerae infection_Homo sapiens_hsa051100.86692149
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.85553931
83mTOR signaling pathway_Homo sapiens_hsa041500.84209522
84Oocyte meiosis_Homo sapiens_hsa041140.83621353
85MicroRNAs in cancer_Homo sapiens_hsa052060.83433296
86Thyroid hormone synthesis_Homo sapiens_hsa049180.81542335
87Prolactin signaling pathway_Homo sapiens_hsa049170.77540000
88Fructose and mannose metabolism_Homo sapiens_hsa000510.76901815
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75005224
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74015307
91Cardiac muscle contraction_Homo sapiens_hsa042600.73311536
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.72589748
93Glucagon signaling pathway_Homo sapiens_hsa049220.71318041
94Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.71279408
95p53 signaling pathway_Homo sapiens_hsa041150.70535288
96Pancreatic secretion_Homo sapiens_hsa049720.68761655
97Basal cell carcinoma_Homo sapiens_hsa052170.68653373
98Rap1 signaling pathway_Homo sapiens_hsa040150.67533535
99Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67141254
100Colorectal cancer_Homo sapiens_hsa052100.66892733
101Ras signaling pathway_Homo sapiens_hsa040140.65731144
102PI3K-Akt signaling pathway_Homo sapiens_hsa041510.65397138
103Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.64111231
104Fatty acid metabolism_Homo sapiens_hsa012120.61441746
105Butanoate metabolism_Homo sapiens_hsa006500.60290238
106Pathways in cancer_Homo sapiens_hsa052000.59901005
107MAPK signaling pathway_Homo sapiens_hsa040100.58144669
108Pentose phosphate pathway_Homo sapiens_hsa000300.57409138
109ABC transporters_Homo sapiens_hsa020100.57135424
110Choline metabolism in cancer_Homo sapiens_hsa052310.56188366
111Wnt signaling pathway_Homo sapiens_hsa043100.56014544
112Lysosome_Homo sapiens_hsa041420.55946276
113Galactose metabolism_Homo sapiens_hsa000520.53819908
114Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53423602
115mRNA surveillance pathway_Homo sapiens_hsa030150.52791981
116Sphingolipid signaling pathway_Homo sapiens_hsa040710.52663354
117VEGF signaling pathway_Homo sapiens_hsa043700.52476461
118Alcoholism_Homo sapiens_hsa050340.52371151
119Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51715836
120Hepatitis C_Homo sapiens_hsa051600.51319796
121Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49423132
122Hedgehog signaling pathway_Homo sapiens_hsa043400.49236464
123Ovarian steroidogenesis_Homo sapiens_hsa049130.48315484
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47997546
125Carbon metabolism_Homo sapiens_hsa012000.47857930
126Insulin resistance_Homo sapiens_hsa049310.46698728
127Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46179103
128Dorso-ventral axis formation_Homo sapiens_hsa043200.45627715
129African trypanosomiasis_Homo sapiens_hsa051430.45156453
130Leukocyte transendothelial migration_Homo sapiens_hsa046700.45134751
131Bile secretion_Homo sapiens_hsa049760.44054656
132Arginine biosynthesis_Homo sapiens_hsa002200.43985994
133AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.43900262
134Carbohydrate digestion and absorption_Homo sapiens_hsa049730.43806348
135Non-small cell lung cancer_Homo sapiens_hsa052230.43634970
136Inositol phosphate metabolism_Homo sapiens_hsa005620.42795624
137Shigellosis_Homo sapiens_hsa051310.42769336
138Phenylalanine metabolism_Homo sapiens_hsa003600.41142811
139Endometrial cancer_Homo sapiens_hsa052130.40257898
140Insulin signaling pathway_Homo sapiens_hsa049100.39216290
141Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.36506550
142Fatty acid biosynthesis_Homo sapiens_hsa000610.34400373
143Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33562815
144Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32944537
145Tight junction_Homo sapiens_hsa045300.32581141
146Melanoma_Homo sapiens_hsa052180.32296448
147Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.31847145
148Focal adhesion_Homo sapiens_hsa045100.31415108
149Renal cell carcinoma_Homo sapiens_hsa052110.31185883
150Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30072171
151Platelet activation_Homo sapiens_hsa046110.29629333
152Neurotrophin signaling pathway_Homo sapiens_hsa047220.29040907
153Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28999554
154Alzheimers disease_Homo sapiens_hsa050100.25486233
155Prion diseases_Homo sapiens_hsa050200.25029044
156Chemokine signaling pathway_Homo sapiens_hsa040620.23830861
157Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.22508942

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