BCAS1

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 resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)7.32319892
2axon ensheathment in central nervous system (GO:0032291)7.32319892
3synaptic vesicle docking involved in exocytosis (GO:0016081)6.07705649
4locomotory exploration behavior (GO:0035641)5.99310576
5L-amino acid import (GO:0043092)5.66818717
6amino acid import (GO:0043090)5.35916994
7myelination (GO:0042552)5.13895144
8ensheathment of neurons (GO:0007272)5.10526763
9axon ensheathment (GO:0008366)5.10526763
10neuron cell-cell adhesion (GO:0007158)4.92857997
11synaptic vesicle maturation (GO:0016188)4.50875803
12potassium ion homeostasis (GO:0055075)4.44956536
13neuronal action potential propagation (GO:0019227)4.43471490
14activated T cell proliferation (GO:0050798)4.17319393
15positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.16212200
16response to methylmercury (GO:0051597)4.08064597
17regulation of short-term neuronal synaptic plasticity (GO:0048172)4.00853476
18transmission of nerve impulse (GO:0019226)3.96790901
19glycine transport (GO:0015816)3.90411530
20neuronal ion channel clustering (GO:0045161)3.87255610
21exploration behavior (GO:0035640)3.86439098
22regulation of synaptic vesicle exocytosis (GO:2000300)3.77728283
23cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.74576383
24long-chain fatty acid biosynthetic process (GO:0042759)3.74534620
25positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.73015710
26positive regulation of dendritic spine development (GO:0060999)3.71091996
27activation of protein kinase A activity (GO:0034199)3.70175396
28fatty acid elongation (GO:0030497)3.68506962
29positive regulation of synapse maturation (GO:0090129)3.67392151
30ionotropic glutamate receptor signaling pathway (GO:0035235)3.65891526
31regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.62294303
32adult walking behavior (GO:0007628)3.60254506
33synaptic vesicle exocytosis (GO:0016079)3.57571532
34negative regulation of synaptic transmission, GABAergic (GO:0032229)3.57357228
35presynaptic membrane organization (GO:0097090)3.57117311
36postsynaptic membrane organization (GO:0001941)3.57024473
37dendrite morphogenesis (GO:0048813)3.54918614
38negative regulation of neurotransmitter transport (GO:0051589)3.51464335
39regulation of neuronal synaptic plasticity (GO:0048168)3.50702380
40dendritic spine morphogenesis (GO:0060997)3.50325942
41vocalization behavior (GO:0071625)3.49993055
42gamma-aminobutyric acid transport (GO:0015812)3.47125626
43presynaptic membrane assembly (GO:0097105)3.44893808
44negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.42022675
45glutamate secretion (GO:0014047)3.41759662
46positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41692612
47regulation of ARF protein signal transduction (GO:0032012)3.40139669
48negative regulation of dendrite morphogenesis (GO:0050774)3.39885018
49regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.39004491
50negative regulation of neurotransmitter secretion (GO:0046929)3.38031806
51cellular sodium ion homeostasis (GO:0006883)3.37309580
52regulation of neurotransmitter levels (GO:0001505)3.36529680
53neuron recognition (GO:0008038)3.36280758
54oligodendrocyte differentiation (GO:0048709)3.36182437
55peripheral nervous system axon ensheathment (GO:0032292)3.34501853
56myelination in peripheral nervous system (GO:0022011)3.34501853
57regulation of synaptic vesicle transport (GO:1902803)3.32617035
58cytoskeletal anchoring at plasma membrane (GO:0007016)3.31971636
59negative regulation of inclusion body assembly (GO:0090084)3.29798843
60substantia nigra development (GO:0021762)3.27348366
61long-term synaptic potentiation (GO:0060291)3.24866828
62regulation of long-term neuronal synaptic plasticity (GO:0048169)3.24863316
63regulation of collateral sprouting (GO:0048670)3.21057851
64cerebellar Purkinje cell differentiation (GO:0021702)3.20661802
65neurotransmitter secretion (GO:0007269)3.19435264
66regulation of glutamate receptor signaling pathway (GO:1900449)3.15826149
67gamma-aminobutyric acid signaling pathway (GO:0007214)3.14819241
68glutamate receptor signaling pathway (GO:0007215)3.13107474
69glycosphingolipid biosynthetic process (GO:0006688)3.11410334
70acidic amino acid transport (GO:0015800)3.11263760
71L-glutamate transport (GO:0015813)3.10983870
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.10427620
73myelin maintenance (GO:0043217)3.10315034
74negative regulation of axonogenesis (GO:0050771)3.08936170
75neuron-neuron synaptic transmission (GO:0007270)3.08622150
76protein localization to synapse (GO:0035418)3.07124068
77cell communication by electrical coupling (GO:0010644)3.06926728
78synaptic transmission, glutamatergic (GO:0035249)3.05962856
79membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.05831984
80negative regulation of protein localization to cell surface (GO:2000009)3.04774524
81regulation of dendritic spine development (GO:0060998)3.04754962
82neuromuscular process controlling posture (GO:0050884)3.03415515
83regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.02859346
84C4-dicarboxylate transport (GO:0015740)3.02735172
85neuromuscular process controlling balance (GO:0050885)3.02394952
86positive regulation of neurological system process (GO:0031646)3.01743614
87peptidyl-tyrosine autophosphorylation (GO:0038083)3.00113503
88regulation of dendritic spine morphogenesis (GO:0061001)2.99313528
89regulation of neurotransmitter secretion (GO:0046928)2.99218961
90negative regulation of axon extension (GO:0030517)2.98888799
91regulation of voltage-gated calcium channel activity (GO:1901385)2.97876216
92axonal fasciculation (GO:0007413)2.96961845
93phosphorelay signal transduction system (GO:0000160)2.96208594
94cellular response to epinephrine stimulus (GO:0071872)2.93897953
95one-carbon compound transport (GO:0019755)2.93746332
96cerebellar granule cell differentiation (GO:0021707)2.93718831
97membrane hyperpolarization (GO:0060081)2.90953598
98glycerophospholipid catabolic process (GO:0046475)2.90662138
99regulation of synapse maturation (GO:0090128)2.90261556
100neurotransmitter transport (GO:0006836)2.88758932
101cellular potassium ion homeostasis (GO:0030007)2.87776927
102potassium ion import (GO:0010107)2.87574061
103regulation of synapse structural plasticity (GO:0051823)2.87160450
104regulation of postsynaptic membrane potential (GO:0060078)2.85666601
105prepulse inhibition (GO:0060134)2.85300804
106regulation of neurotransmitter transport (GO:0051588)2.85110511
107positive regulation of membrane potential (GO:0045838)2.85091212
108regulation of cell communication by electrical coupling (GO:0010649)2.84726461
109positive regulation of dendrite development (GO:1900006)2.84453902
110long-term memory (GO:0007616)2.84407009
111peripheral nervous system development (GO:0007422)2.83881055
112layer formation in cerebral cortex (GO:0021819)2.83837974
113response to auditory stimulus (GO:0010996)2.83733708
114astrocyte development (GO:0014002)2.83145034
115positive regulation of Rap GTPase activity (GO:0032854)2.82805317
116negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.82348016
117mating behavior (GO:0007617)2.82207418
118dendritic spine organization (GO:0097061)2.82121117
119synaptic transmission (GO:0007268)2.81504894
120regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.79531089
121chemosensory behavior (GO:0007635)2.79235440
122neuron remodeling (GO:0016322)2.78205716
123eye photoreceptor cell differentiation (GO:0001754)2.77688701
124photoreceptor cell differentiation (GO:0046530)2.77688701
125regulation of synaptic transmission, glutamatergic (GO:0051966)2.77648714
126regulation of Rap GTPase activity (GO:0032317)2.76687370
127response to redox state (GO:0051775)2.76093772
128regulation of synaptic plasticity (GO:0048167)2.75112750
129regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.74485416
130establishment of mitochondrion localization (GO:0051654)2.74361196
131sodium ion export (GO:0071436)2.73845659
132neurotransmitter-gated ion channel clustering (GO:0072578)2.73264893
133neurotransmitter uptake (GO:0001504)2.73133747
134response to epinephrine (GO:0071871)2.72631674
135regulation of excitatory postsynaptic membrane potential (GO:0060079)2.70907743
136auditory behavior (GO:0031223)2.65344253
137import into cell (GO:0098657)2.63225984

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.17993325
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97673924
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.94792755
4GBX2_23144817_ChIP-Seq_PC3_Human2.93939286
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.78165027
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61201110
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61201110
8DROSHA_22980978_ChIP-Seq_HELA_Human2.54350018
9MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51673057
10SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43438299
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.41612504
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.39662254
13AR_21572438_ChIP-Seq_LNCaP_Human2.38576928
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.36431706
15RARB_27405468_Chip-Seq_BRAIN_Mouse2.33022373
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.30821152
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.23321462
18* EZH2_27294783_Chip-Seq_ESCs_Mouse2.22547893
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21969705
20SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.12660765
21REST_21632747_ChIP-Seq_MESCs_Mouse2.11594401
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.10065917
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.07218256
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.77421779
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.71485251
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.65817223
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.64790883
28VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.63458456
29OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.62517808
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61163282
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54570195
32TAF15_26573619_Chip-Seq_HEK293_Human1.53679083
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.53465085
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52679550
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.50881712
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49498090
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46351076
38IKZF1_21737484_ChIP-ChIP_HCT116_Human1.46200214
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.45853574
40* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45304001
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.36259787
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33855776
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33192876
44RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.30360683
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.29931395
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29815421
47* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.29393758
48CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.29229186
49* SMAD4_21799915_ChIP-Seq_A2780_Human1.24986987
50SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23057629
51ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21473387
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.20761965
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19502438
54ZFP57_27257070_Chip-Seq_ESCs_Mouse1.18268212
55P300_19829295_ChIP-Seq_ESCs_Human1.17139306
56MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.17121663
57* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15988320
58STAT3_23295773_ChIP-Seq_U87_Human1.15738026
59CBX2_27304074_Chip-Seq_ESCs_Mouse1.15242276
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.14388194
61ESR1_21235772_ChIP-Seq_MCF-7_Human1.14337872
62BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13594907
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.11734399
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.09105720
65ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08217741
66WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07603632
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07224388
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06427035
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05395603
70ESR2_21235772_ChIP-Seq_MCF-7_Human1.04926136
71TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03666858
72RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.03614011
73PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02785794
74ZNF274_21170338_ChIP-Seq_K562_Hela1.02577087
75TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01642650
76CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.01291321
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.00575306
78* ER_23166858_ChIP-Seq_MCF-7_Human0.99665654
79STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99307626
80AHR_22903824_ChIP-Seq_MCF-7_Human0.98504571
81EP300_21415370_ChIP-Seq_HL-1_Mouse0.98385863
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.98244424
83TCF4_23295773_ChIP-Seq_U87_Human0.97464635
84TP53_16413492_ChIP-PET_HCT116_Human0.97284208
85DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96681614
86CTCF_27219007_Chip-Seq_Bcells_Human0.95444800
87TET1_21490601_ChIP-Seq_MESCs_Mouse0.94653546
88AR_19668381_ChIP-Seq_PC3_Human0.94483796
89ARNT_22903824_ChIP-Seq_MCF-7_Human0.94150385
90NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93794912
91* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93369411
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.92791879
93NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.92791879
94RUNX2_22187159_ChIP-Seq_PCA_Human0.92289516
95* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92098972
96GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91847242
97ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90705400
98EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90508917
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90488077
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90388907
101SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.90107013
102GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88299549
103* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.88186401
104ZFP281_27345836_Chip-Seq_ESCs_Mouse0.88028546
105SMAD4_21741376_ChIP-Seq_EPCs_Human0.87814480
106RNF2_27304074_Chip-Seq_NSC_Mouse0.87681208
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.87252815
108AR_25329375_ChIP-Seq_VCAP_Human0.87109117
109* SMAD4_21741376_ChIP-Seq_HESCs_Human0.86493550
110EGR1_19032775_ChIP-ChIP_M12_Human0.86284869
111* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85810009
112CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85682021
113* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.85379092
114KDM2B_26808549_Chip-Seq_K562_Human0.84844593
115NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.84578664
116YAP1_20516196_ChIP-Seq_MESCs_Mouse0.84529868
117* SMAD3_21741376_ChIP-Seq_HESCs_Human0.83635861
118* NANOG_18555785_Chip-Seq_ESCs_Mouse0.83405658
119POU3F2_20337985_ChIP-ChIP_501MEL_Human0.82113580
120* FOXA2_19822575_ChIP-Seq_HepG2_Human0.81860884
121TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81105332
122POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81105332
123ZFP281_18757296_ChIP-ChIP_E14_Mouse0.81045809
124OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80951992
125PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.80905569
126MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.80103984
127* CDX2_20551321_ChIP-Seq_CACO-2_Human0.80066486

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.82924808
2MP0004859_abnormal_synaptic_plasticity4.81194512
3MP0000920_abnormal_myelination3.92672879
4MP0003635_abnormal_synaptic_transmissio3.44671056
5MP0004270_analgesia3.42403861
6MP0002064_seizures3.19134305
7MP0009745_abnormal_behavioral_response3.03563520
8MP0001486_abnormal_startle_reflex2.99248641
9MP0005423_abnormal_somatic_nervous2.95466844
10MP0002272_abnormal_nervous_system2.90679010
11MP0003690_abnormal_glial_cell2.82624582
12MP0009046_muscle_twitch2.75183669
13MP0002063_abnormal_learning/memory/cond2.62496328
14MP0002822_catalepsy2.59223932
15MP0004885_abnormal_endolymph2.50169013
16MP0004742_abnormal_vestibular_system2.49945335
17MP0003329_amyloid_beta_deposits2.44872510
18MP0002572_abnormal_emotion/affect_behav2.35058991
19MP0002734_abnormal_mechanical_nocicepti2.34981491
20MP0004142_abnormal_muscle_tone2.16571659
21MP0000778_abnormal_nervous_system2.14607926
22MP0001440_abnormal_grooming_behavior2.13733772
23MP0001529_abnormal_vocalization2.12732722
24MP0001968_abnormal_touch/_nociception2.08739245
25MP0008569_lethality_at_weaning2.03583248
26MP0001905_abnormal_dopamine_level1.98333805
27MP0003634_abnormal_glial_cell1.97457957
28MP0001970_abnormal_pain_threshold1.79179808
29MP0000955_abnormal_spinal_cord1.78385114
30MP0002067_abnormal_sensory_capabilities1.78302017
31MP0005171_absent_coat_pigmentation1.77094069
32MP0001501_abnormal_sleep_pattern1.69961858
33MP0003172_abnormal_lysosome_physiology1.67871838
34MP0002733_abnormal_thermal_nociception1.65830076
35MP0003136_yellow_coat_color1.62526080
36MP0001485_abnormal_pinna_reflex1.61351212
37MP0003632_abnormal_nervous_system1.59047388
38MP0005409_darkened_coat_color1.53788917
39MP0002882_abnormal_neuron_morphology1.53596925
40MP0003633_abnormal_nervous_system1.51101698
41MP0002736_abnormal_nociception_after1.49735593
42MP0002066_abnormal_motor_capabilities/c1.49706785
43MP0004145_abnormal_muscle_electrophysio1.48822593
44MP0005386_behavior/neurological_phenoty1.47802234
45MP0004924_abnormal_behavior1.47802234
46MP0003631_nervous_system_phenotype1.47344235
47MP0002557_abnormal_social/conspecific_i1.42977884
48MP0002229_neurodegeneration1.40978933
49MP0005623_abnormal_meninges_morphology1.39944780
50MP0002184_abnormal_innervation1.39769727
51MP0004811_abnormal_neuron_physiology1.29403518
52MP0004147_increased_porphyrin_level1.24344752
53MP0000604_amyloidosis1.22870073
54MP0000462_abnormal_digestive_system1.22649466
55MP0005646_abnormal_pituitary_gland1.20749875
56MP0005410_abnormal_fertilization1.18415968
57MP0000566_synostosis1.16644928
58MP0001963_abnormal_hearing_physiology1.15206433
59MP0003787_abnormal_imprinting1.13753241
60MP0001177_atelectasis1.13246505
61MP0002735_abnormal_chemical_nociception1.12215028
62MP0004134_abnormal_chest_morphology1.11714963
63MP0004858_abnormal_nervous_system1.09512280
64MP0005551_abnormal_eye_electrophysiolog1.08897417
65MP0001299_abnormal_eye_distance/1.08274639
66MP0009780_abnormal_chondrocyte_physiolo1.06980137
67MP0002152_abnormal_brain_morphology1.04460915
68MP0001346_abnormal_lacrimal_gland1.01907705
69MP0002752_abnormal_somatic_nervous0.99035854
70MP0002909_abnormal_adrenal_gland0.98292630
71MP0005167_abnormal_blood-brain_barrier0.97787962
72MP0001984_abnormal_olfaction0.91761057
73MP0001502_abnormal_circadian_rhythm0.90612680
74MP0001986_abnormal_taste_sensitivity0.90188308
75MP0002090_abnormal_vision0.87483013
76MP0004130_abnormal_muscle_cell0.86667778
77MP0004043_abnormal_pH_regulation0.86523109
78MP0005645_abnormal_hypothalamus_physiol0.84342494
79MP0000747_muscle_weakness0.84129471
80MP0001765_abnormal_ion_homeostasis0.83723487
81MP0003183_abnormal_peptide_metabolism0.81899483
82MP0008961_abnormal_basal_metabolism0.80959863
83MP0008874_decreased_physiological_sensi0.77965939
84MP0003075_altered_response_to0.77663718
85MP0000013_abnormal_adipose_tissue0.77077859
86MP0003950_abnormal_plasma_membrane0.75686185
87MP0000631_abnormal_neuroendocrine_gland0.73446476
88MP0002069_abnormal_eating/drinking_beha0.72294810
89MP0006276_abnormal_autonomic_nervous0.69761944
90MP0001661_extended_life_span0.69485241
91MP0010678_abnormal_skin_adnexa0.69352479
92MP0010386_abnormal_urinary_bladder0.69078549
93MP0003938_abnormal_ear_development0.67831721
94MP0000751_myopathy0.67746400
95MP0003045_fibrosis0.65635574
96MP0008875_abnormal_xenobiotic_pharmacok0.65566483
97MP0001943_abnormal_respiration0.62874643
98MP0002876_abnormal_thyroid_physiology0.62674101
99MP0005084_abnormal_gallbladder_morpholo0.61484486
100MP0008872_abnormal_physiological_respon0.61126105
101MP0003137_abnormal_impulse_conducting0.60450959
102MP0003283_abnormal_digestive_organ0.59315292
103MP0002638_abnormal_pupillary_reflex0.58955391
104MP0000383_abnormal_hair_follicle0.58681842
105MP0003866_abnormal_defecation0.56115116
106MP0005166_decreased_susceptibility_to0.55883056
107MP0005195_abnormal_posterior_eye0.55389263
108MP0000579_abnormal_nail_morphology0.54597445
109MP0004085_abnormal_heartbeat0.54024923
110MP0005535_abnormal_body_temperature0.52003251
111MP0003123_paternal_imprinting0.51970444
112MP0001664_abnormal_digestion0.51261706
113MP0003879_abnormal_hair_cell0.51170572
114MP0002082_postnatal_lethality0.50635223
115MP0010770_preweaning_lethality0.50635223
116MP0000026_abnormal_inner_ear0.50057156
117MP0003956_abnormal_body_size0.49139772
118MP0002249_abnormal_larynx_morphology0.48476419
119MP0005388_respiratory_system_phenotype0.47902306
120MP0002133_abnormal_respiratory_system0.47902306
121MP0003861_abnormal_nervous_system0.47428478
122MP0004133_heterotaxia0.46726334
123MP0010768_mortality/aging0.46703516
124MP0004185_abnormal_adipocyte_glucose0.46675455
125MP0005253_abnormal_eye_physiology0.46376593
126MP0010769_abnormal_survival0.46164710

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.96745546
2Neurofibrillary tangles (HP:0002185)5.13005546
3Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.08611771
4Degeneration of the lateral corticospinal tracts (HP:0002314)5.08611771
5Focal motor seizures (HP:0011153)4.98927551
6Peripheral hypomyelination (HP:0007182)4.97520314
7Supranuclear gaze palsy (HP:0000605)4.58048397
8Abnormality of the corticospinal tract (HP:0002492)4.34308811
9Ankle clonus (HP:0011448)4.20546598
10Action tremor (HP:0002345)4.19315602
11Dysmetria (HP:0001310)3.94092327
12Spastic gait (HP:0002064)3.90161479
13Intention tremor (HP:0002080)3.86744237
14Cerebral inclusion bodies (HP:0100314)3.85338553
15Focal seizures (HP:0007359)3.83318077
16Insidious onset (HP:0003587)3.60638337
17Termporal pattern (HP:0011008)3.60638337
18Atonic seizures (HP:0010819)3.55431472
19Scanning speech (HP:0002168)3.39463125
20Onion bulb formation (HP:0003383)3.37895959
21Sensory axonal neuropathy (HP:0003390)3.27923914
22Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.18539309
23Urinary urgency (HP:0000012)3.18320534
24Cerebral hypomyelination (HP:0006808)3.09699683
25Dysdiadochokinesis (HP:0002075)3.07672546
26Bell-shaped thorax (HP:0001591)3.02266924
27Postural instability (HP:0002172)2.98869519
28Progressive cerebellar ataxia (HP:0002073)2.94806182
29Visual hallucinations (HP:0002367)2.93179685
30Obstructive sleep apnea (HP:0002870)2.85764650
31Abnormal auditory evoked potentials (HP:0006958)2.84780714
32Bundle branch block (HP:0011710)2.81586111
33Alacrima (HP:0000522)2.81423174
34Slow saccadic eye movements (HP:0000514)2.80007517
35Epileptic encephalopathy (HP:0200134)2.76961203
36Hemiplegia (HP:0002301)2.76337568
37Urinary bladder sphincter dysfunction (HP:0002839)2.71749114
38Broad-based gait (HP:0002136)2.67192947
39Lower limb muscle weakness (HP:0007340)2.67039367
40Pheochromocytoma (HP:0002666)2.62771613
41Stridor (HP:0010307)2.59960462
42Megalencephaly (HP:0001355)2.59756370
43Impaired vibration sensation in the lower limbs (HP:0002166)2.59285472
44Increased circulating renin level (HP:0000848)2.58214215
45Clonus (HP:0002169)2.55664918
46Choreoathetosis (HP:0001266)2.48177125
47Anxiety (HP:0000739)2.47530938
48Rhinitis (HP:0012384)2.46688339
49Tetraplegia (HP:0002445)2.45610069
50Gaze-evoked nystagmus (HP:0000640)2.41405386
51Generalized tonic-clonic seizures (HP:0002069)2.41381709
52Abnormal eating behavior (HP:0100738)2.41202163
53Morphological abnormality of the inner ear (HP:0011390)2.40829356
54Abnormal respiratory motile cilium physiology (HP:0012261)2.40626337
55Depression (HP:0000716)2.40290298
56Mutism (HP:0002300)2.37113515
57Amelogenesis imperfecta (HP:0000705)2.37051169
58Papilledema (HP:0001085)2.35950752
59Epileptiform EEG discharges (HP:0011182)2.34065496
60Akinesia (HP:0002304)2.32289729
61Abnormality of renin-angiotensin system (HP:0000847)2.32218335
62Dialeptic seizures (HP:0011146)2.31329596
63Status epilepticus (HP:0002133)2.30897046
64Hyperaldosteronism (HP:0000859)2.30537645
65Aplasia involving bones of the upper limbs (HP:0009823)2.29884836
66Aplasia of the phalanges of the hand (HP:0009802)2.29884836
67Aplasia involving bones of the extremities (HP:0009825)2.29884836
68Absent speech (HP:0001344)2.28943612
69Torticollis (HP:0000473)2.27301774
70Neuroendocrine neoplasm (HP:0100634)2.24142841
71Decreased lacrimation (HP:0000633)2.20952815
72Absence seizures (HP:0002121)2.19529755
73Bowel incontinence (HP:0002607)2.18392440
74Hemiparesis (HP:0001269)2.17210803
75Generalized myoclonic seizures (HP:0002123)2.16568354
76Premature skin wrinkling (HP:0100678)2.16385729
77Metabolic alkalosis (HP:0200114)2.15548657
78Truncal ataxia (HP:0002078)2.15027074
79Febrile seizures (HP:0002373)2.14545491
80Retinal dysplasia (HP:0007973)2.14265262
81Abnormal ciliary motility (HP:0012262)2.13504259
82Dynein arm defect of respiratory motile cilia (HP:0012255)2.12813137
83Absent/shortened dynein arms (HP:0200106)2.12813137
84Neuronal loss in central nervous system (HP:0002529)2.12493616
85Clumsiness (HP:0002312)2.09897336
86Abnormal respiratory epithelium morphology (HP:0012253)2.09584200
87Abnormal respiratory motile cilium morphology (HP:0005938)2.09584200
88Abnormality of saccadic eye movements (HP:0000570)2.09551362
89Sleep apnea (HP:0010535)2.08395716
90Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.07690496
91Chronic bronchitis (HP:0004469)2.06079457
92Morphological abnormality of the pyramidal tract (HP:0002062)2.05313188
93Annular pancreas (HP:0001734)2.03613247
94Hammertoe (HP:0001765)2.02723349
95Segmental peripheral demyelination/remyelination (HP:0003481)2.02432410
96Leukodystrophy (HP:0002415)1.99950988
97EEG with generalized epileptiform discharges (HP:0011198)1.99904102
98Abnormal large intestine physiology (HP:0012700)1.99728582
99Hyperactive renin-angiotensin system (HP:0000841)1.99651498
100Postural tremor (HP:0002174)1.99472765
101Abnormality of binocular vision (HP:0011514)1.98686040
102Diplopia (HP:0000651)1.98686040
103Poor eye contact (HP:0000817)1.97891352
104Delusions (HP:0000746)1.96625932
105Apathy (HP:0000741)1.95182199
106CNS hypomyelination (HP:0003429)1.95076803
107Cerebral hemorrhage (HP:0001342)1.94125736
108Spastic tetraparesis (HP:0001285)1.93300292
109Impaired smooth pursuit (HP:0007772)1.92987050
110Progressive inability to walk (HP:0002505)1.92857753
111Confusion (HP:0001289)1.92726696
112Abnormal social behavior (HP:0012433)1.92419093
113Impaired social interactions (HP:0000735)1.92419093
114Blue irides (HP:0000635)1.92256443
115Slow progression (HP:0003677)1.89893166
116Focal dystonia (HP:0004373)1.89768568
117Gait ataxia (HP:0002066)1.84332417
118Distal sensory impairment (HP:0002936)1.84230012
119Parakeratosis (HP:0001036)1.84032986
120Limb dystonia (HP:0002451)1.82706106
121Craniofacial dystonia (HP:0012179)1.81969608
122Rigidity (HP:0002063)1.81681097
123Foot dorsiflexor weakness (HP:0009027)1.79397084
124Hypomagnesemia (HP:0002917)1.77204635
125Fetal akinesia sequence (HP:0001989)1.76701937
126Hypokalemic alkalosis (HP:0001949)1.75123887
127Spastic paraparesis (HP:0002313)1.73156739
128Decreased motor nerve conduction velocity (HP:0003431)1.70721890
129Abnormality of the periventricular white matter (HP:0002518)1.70654278
130Bradykinesia (HP:0002067)1.69622912

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TYRO34.28298755
2STK393.53609531
3EPHA43.48388187
4FES3.35784134
5TNIK3.14881638
6OXSR12.62022429
7UHMK12.45804262
8NTRK32.35903719
9MARK12.06540492
10NTRK12.03144946
11WNK12.00568960
12EPHB11.98053828
13MAP3K91.94516208
14PAK61.92595871
15MINK11.84308428
16PKN11.80141820
17CASK1.70063459
18LIMK11.68392531
19KSR21.65310427
20RIPK11.59446082
21CDK191.59028725
22NTRK21.58849656
23ICK1.57003235
24PINK11.50998660
25MAPKAPK51.49262475
26MAP3K41.48039911
27PRKD31.47360090
28WNK41.46442561
29NEK61.35356560
30CAMKK21.32302327
31IRAK21.26800184
32ROCK21.25567628
33CDK51.25457179
34PNCK1.25394598
35PRPF4B1.24953033
36MAPK131.24355152
37SGK2231.20707889
38SGK4941.20707889
39CAMK2B1.17322680
40PHKG21.17179042
41PHKG11.17179042
42MAP3K21.12669993
43FGFR21.12559428
44PDGFRB1.11174411
45BCR1.02046072
46DAPK20.97225941
47MARK20.96253643
48CAMKK10.95716216
49SGK20.95645955
50CAMK2D0.95422064
51FGR0.94668923
52SIK20.90760635
53PRKCH0.89543207
54MAP2K70.88445686
55CAMK2A0.86346955
56CAMK2G0.84574799
57PAK30.84412270
58CDK140.80649032
59ARAF0.80142033
60MAP3K130.80017940
61DAPK10.79873437
62CDK150.76982004
63FYN0.75920026
64SGK30.75681448
65RIPK40.75361840
66PDPK10.75344632
67CSNK1G20.75155981
68TESK20.74275689
69CDK180.72880698
70DYRK1A0.71074930
71MUSK0.70678428
72PIK3CA0.69469189
73MAPK150.68797165
74MET0.68574914
75MAPK120.68447319
76GRK50.68115519
77MAP2K40.67718035
78CDK11A0.67430201
79PRKCZ0.67392572
80PRKCQ0.67156170
81ALK0.65497929
82CSNK1G30.64945511
83PRKD10.64531803
84LATS20.64326875
85KSR10.63875513
86PLK20.63849579
87RET0.63817209
88STK110.63408096
89PRKCG0.63142815
90CSK0.61326503
91ROCK10.61094568
92LMTK20.60536409
93CSNK1A1L0.57240560
94CAMK40.57042411
95PDK10.55185718
96ERBB20.54887929
97PRKCE0.53833167
98MAP3K120.51725504
99PRKCA0.50913388
100SGK10.48215808
101IRAK10.47212727
102PBK0.46331718
103JAK10.46325027
104TNK20.44282373
105STK380.43807830
106PRKG20.42938940
107CAMK10.42784738
108MAPK100.42083910
109DDR20.41912914
110PRKG10.41673675
111CAMK1G0.41141857
112CLK10.39128138
113MAP2K10.39094988
114* RPS6KA30.38559620
115MAP3K10.38062613
116CSNK1G10.37855909
117BMPR20.36873158
118PRKACA0.36679997
119INSR0.35691565
120PRKCB0.35436673
121DMPK0.34839236
122SRC0.33959457
123CSNK1A10.32174081

Predicted pathways (KEGG)

RankGene SetZ-score
1Glutamatergic synapse_Homo sapiens_hsa047242.54323147
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.52383417
3GABAergic synapse_Homo sapiens_hsa047272.48318533
4Nitrogen metabolism_Homo sapiens_hsa009102.45064832
5Nicotine addiction_Homo sapiens_hsa050332.44025721
6Synaptic vesicle cycle_Homo sapiens_hsa047212.41166010
7Histidine metabolism_Homo sapiens_hsa003402.16765083
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.13361396
9Morphine addiction_Homo sapiens_hsa050322.08147142
10Ether lipid metabolism_Homo sapiens_hsa005652.03786541
11Circadian entrainment_Homo sapiens_hsa047131.99906507
12Olfactory transduction_Homo sapiens_hsa047401.94203906
13Cholinergic synapse_Homo sapiens_hsa047251.90582218
14Gastric acid secretion_Homo sapiens_hsa049711.84617406
15Steroid biosynthesis_Homo sapiens_hsa001001.80899154
16Salivary secretion_Homo sapiens_hsa049701.78440038
17Dopaminergic synapse_Homo sapiens_hsa047281.77724054
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.76703202
19Long-term potentiation_Homo sapiens_hsa047201.75807258
20Axon guidance_Homo sapiens_hsa043601.75066761
21Long-term depression_Homo sapiens_hsa047301.70149333
22Amphetamine addiction_Homo sapiens_hsa050311.67294071
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.62450573
24Fatty acid elongation_Homo sapiens_hsa000621.59357480
25Serotonergic synapse_Homo sapiens_hsa047261.54020111
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51235453
27Cocaine addiction_Homo sapiens_hsa050301.47904594
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.41622889
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.33538070
30Collecting duct acid secretion_Homo sapiens_hsa049661.31761340
31Insulin secretion_Homo sapiens_hsa049111.30326215
32Renin secretion_Homo sapiens_hsa049241.27860980
33Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.26413296
34Phospholipase D signaling pathway_Homo sapiens_hsa040721.23867780
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.23265070
36Gap junction_Homo sapiens_hsa045401.20387887
37Oxytocin signaling pathway_Homo sapiens_hsa049211.18367900
38Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.17052332
39Prion diseases_Homo sapiens_hsa050201.16942894
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.16028796
41Aldosterone synthesis and secretion_Homo sapiens_hsa049251.15051301
42beta-Alanine metabolism_Homo sapiens_hsa004101.13266452
43GnRH signaling pathway_Homo sapiens_hsa049121.09287048
44Taste transduction_Homo sapiens_hsa047421.09149635
45Sphingolipid metabolism_Homo sapiens_hsa006001.08146409
46Sphingolipid signaling pathway_Homo sapiens_hsa040711.08103980
47Vitamin B6 metabolism_Homo sapiens_hsa007501.04004458
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.03130610
49Calcium signaling pathway_Homo sapiens_hsa040201.02461377
50Cardiac muscle contraction_Homo sapiens_hsa042600.99430717
51cAMP signaling pathway_Homo sapiens_hsa040240.99130576
52Choline metabolism in cancer_Homo sapiens_hsa052310.98790768
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.95265214
54Renal cell carcinoma_Homo sapiens_hsa052110.95023924
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94761789
56Vibrio cholerae infection_Homo sapiens_hsa051100.94584880
57Dorso-ventral axis formation_Homo sapiens_hsa043200.94500105
58Butanoate metabolism_Homo sapiens_hsa006500.91023457
59Pancreatic secretion_Homo sapiens_hsa049720.89902508
60Arginine and proline metabolism_Homo sapiens_hsa003300.87457102
61ErbB signaling pathway_Homo sapiens_hsa040120.86317731
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85236059
63Phosphatidylinositol signaling system_Homo sapiens_hsa040700.84727144
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84376223
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.78423136
66Endocytosis_Homo sapiens_hsa041440.78148991
67Inositol phosphate metabolism_Homo sapiens_hsa005620.75994749
68Tight junction_Homo sapiens_hsa045300.75873512
69Estrogen signaling pathway_Homo sapiens_hsa049150.74950065
70Oxidative phosphorylation_Homo sapiens_hsa001900.71455398
71Type II diabetes mellitus_Homo sapiens_hsa049300.71342575
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70073421
73Glioma_Homo sapiens_hsa052140.68453608
74Thyroid hormone synthesis_Homo sapiens_hsa049180.68353449
75Alzheimers disease_Homo sapiens_hsa050100.66716087
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.65970731
77Fatty acid biosynthesis_Homo sapiens_hsa000610.65684460
78Ras signaling pathway_Homo sapiens_hsa040140.65517625
79Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.64419770
80Melanogenesis_Homo sapiens_hsa049160.64097346
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.63853631
82Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.63327767
83Sulfur metabolism_Homo sapiens_hsa009200.63079797
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.60765727
85Glycerophospholipid metabolism_Homo sapiens_hsa005640.59684587
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59502994
87Arginine biosynthesis_Homo sapiens_hsa002200.58146914
88Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.57645363
89Ovarian steroidogenesis_Homo sapiens_hsa049130.57520577
90alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.55644360
91Circadian rhythm_Homo sapiens_hsa047100.54159336
92Linoleic acid metabolism_Homo sapiens_hsa005910.51888341
93ABC transporters_Homo sapiens_hsa020100.51791313
94Parkinsons disease_Homo sapiens_hsa050120.51280980
95Bile secretion_Homo sapiens_hsa049760.50359226
96Phototransduction_Homo sapiens_hsa047440.48701451
97MAPK signaling pathway_Homo sapiens_hsa040100.47252198
98Oocyte meiosis_Homo sapiens_hsa041140.46866829
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46264057
100Mineral absorption_Homo sapiens_hsa049780.45455076
101Dilated cardiomyopathy_Homo sapiens_hsa054140.44674617
102Rap1 signaling pathway_Homo sapiens_hsa040150.44360365
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43967118
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.43475365
105Neurotrophin signaling pathway_Homo sapiens_hsa047220.41983821
106Glucagon signaling pathway_Homo sapiens_hsa049220.40932959
107Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40149225
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38733647
109Platelet activation_Homo sapiens_hsa046110.38332450
110Alcoholism_Homo sapiens_hsa050340.35732761
111Cyanoamino acid metabolism_Homo sapiens_hsa004600.35576856
112VEGF signaling pathway_Homo sapiens_hsa043700.34810715
113Hedgehog signaling pathway_Homo sapiens_hsa043400.33750466
114Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33372756
115Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33099548
116Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32462650
117Chemokine signaling pathway_Homo sapiens_hsa040620.31779584
118Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30408959
119Phenylalanine metabolism_Homo sapiens_hsa003600.27542041
120Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.27230840
121PPAR signaling pathway_Homo sapiens_hsa033200.24175731

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