DSCAM

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 immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)6.40715500
2locomotory exploration behavior (GO:0035641)6.05119923
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.92140096
4vocalization behavior (GO:0071625)5.65721016
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.63863316
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.50213120
7regulation of glutamate receptor signaling pathway (GO:1900449)5.24498089
8ionotropic glutamate receptor signaling pathway (GO:0035235)5.06722628
9protein localization to synapse (GO:0035418)5.02228963
10synaptic vesicle exocytosis (GO:0016079)5.00288302
11exploration behavior (GO:0035640)4.79362085
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.72496982
13synaptic vesicle maturation (GO:0016188)4.70757800
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.69458634
15glutamate secretion (GO:0014047)4.64907583
16presynaptic membrane assembly (GO:0097105)4.64905292
17negative regulation of cytosolic calcium ion concentration (GO:0051481)4.64304381
18regulation of synaptic vesicle exocytosis (GO:2000300)4.52116495
19glutamate receptor signaling pathway (GO:0007215)4.50529857
20postsynaptic membrane organization (GO:0001941)4.35163819
21synaptic transmission, glutamatergic (GO:0035249)4.35092987
22sodium ion export (GO:0071436)4.21452771
23neurotransmitter-gated ion channel clustering (GO:0072578)4.21122776
24regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.18050920
25presynaptic membrane organization (GO:0097090)4.16135821
26neuronal action potential propagation (GO:0019227)4.13371327
27* neuron recognition (GO:0008038)4.11349816
28dendritic spine morphogenesis (GO:0060997)4.10263417
29neurotransmitter secretion (GO:0007269)4.10188823
30neuron-neuron synaptic transmission (GO:0007270)4.09907031
31regulation of synaptic vesicle transport (GO:1902803)4.06174636
32regulation of long-term neuronal synaptic plasticity (GO:0048169)4.00176928
33regulation of neuronal synaptic plasticity (GO:0048168)3.99625347
34limb bud formation (GO:0060174)3.98713181
35gamma-aminobutyric acid transport (GO:0015812)3.88512618
36axonal fasciculation (GO:0007413)3.82337650
37startle response (GO:0001964)3.81969251
38synaptic vesicle docking involved in exocytosis (GO:0016081)3.77096437
39layer formation in cerebral cortex (GO:0021819)3.76389014
40long-term memory (GO:0007616)3.76174478
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.76060911
42transmission of nerve impulse (GO:0019226)3.75713585
43positive regulation of membrane potential (GO:0045838)3.74367459
44gamma-aminobutyric acid signaling pathway (GO:0007214)3.67493296
45long-term synaptic potentiation (GO:0060291)3.64019643
46regulation of postsynaptic membrane potential (GO:0060078)3.63672423
47positive regulation of synapse assembly (GO:0051965)3.60313519
48regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.58805873
49negative regulation of sodium ion transport (GO:0010766)3.55649342
50regulation of synaptic transmission, glutamatergic (GO:0051966)3.55569121
51proline transport (GO:0015824)3.54072227
52regulation of synapse structural plasticity (GO:0051823)3.51405538
53negative regulation of synaptic transmission, GABAergic (GO:0032229)3.50360213
54positive regulation of synaptic transmission, GABAergic (GO:0032230)3.50262522
55positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.49476764
56amino acid import (GO:0043090)3.49129184
57neurotransmitter transport (GO:0006836)3.46609380
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.40573565
59regulation of synaptic plasticity (GO:0048167)3.39104338
60cerebellar granule cell differentiation (GO:0021707)3.37299736
61establishment of mitochondrion localization (GO:0051654)3.36087542
62synapse assembly (GO:0007416)3.35254493
63mechanosensory behavior (GO:0007638)3.33164610
64membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.32466724
65G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.32170471
66membrane hyperpolarization (GO:0060081)3.30644579
67negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.30354285
68positive regulation of synapse maturation (GO:0090129)3.29788293
69neuronal ion channel clustering (GO:0045161)3.26383674
70auditory behavior (GO:0031223)3.26314241
71regulation of vesicle fusion (GO:0031338)3.24096658
72neuronal action potential (GO:0019228)3.22241488
73synaptic vesicle endocytosis (GO:0048488)3.21806531
74regulation of neurotransmitter levels (GO:0001505)3.19486022
75regulation of dendritic spine morphogenesis (GO:0061001)3.18836322
76response to histamine (GO:0034776)3.17763881
77membrane depolarization (GO:0051899)3.17738357
78* dendrite morphogenesis (GO:0048813)3.13223135
79regulation of respiratory system process (GO:0044065)3.12304455
80cerebellar Purkinje cell differentiation (GO:0021702)3.12006877
81neurotransmitter uptake (GO:0001504)3.11173101
82regulation of neurotransmitter secretion (GO:0046928)3.08307143
83response to auditory stimulus (GO:0010996)3.08079429
84synapse organization (GO:0050808)3.07401897
85innervation (GO:0060384)3.06942990
86learning (GO:0007612)3.05893959
87positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.05849884
88cell migration in hindbrain (GO:0021535)3.05303753
89relaxation of cardiac muscle (GO:0055119)3.03912707
90C4-dicarboxylate transport (GO:0015740)3.00583285
91central nervous system myelination (GO:0022010)3.00109945
92axon ensheathment in central nervous system (GO:0032291)3.00109945
93cerebellar Purkinje cell layer development (GO:0021680)2.98868276
94righting reflex (GO:0060013)2.97020826
95regulation of glutamate secretion (GO:0014048)2.96160723
96regulation of synapse assembly (GO:0051963)2.95921818
97L-amino acid import (GO:0043092)2.95621806
98pyrimidine nucleobase catabolic process (GO:0006208)2.94870378
99cellular potassium ion homeostasis (GO:0030007)2.94632275
100behavioral defense response (GO:0002209)2.93695508
101behavioral fear response (GO:0001662)2.93695508
102positive regulation of synaptic transmission (GO:0050806)2.93305143
103dendrite development (GO:0016358)2.93067725
104potassium ion homeostasis (GO:0055075)2.92901599
105central nervous system projection neuron axonogenesis (GO:0021952)2.92874199
106establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.92873059
107mitochondrion transport along microtubule (GO:0047497)2.92873059
108regulation of synaptic transmission (GO:0050804)2.92759027
109intraspecies interaction between organisms (GO:0051703)2.92741618
110social behavior (GO:0035176)2.92741618
111activation of protein kinase A activity (GO:0034199)2.91451382
112adult walking behavior (GO:0007628)2.90863306
113neuromuscular process controlling balance (GO:0050885)2.90860222
114regulation of synaptic transmission, GABAergic (GO:0032228)2.90302911
115cellular sodium ion homeostasis (GO:0006883)2.89386096
116regulation of respiratory gaseous exchange (GO:0043576)2.88780839
117cardiac right ventricle morphogenesis (GO:0003215)2.87884977
118prepulse inhibition (GO:0060134)2.87501405
119synaptic transmission (GO:0007268)2.86810156
120cell communication by electrical coupling (GO:0010644)2.84337281
121cerebral cortex radially oriented cell migration (GO:0021799)2.83655080
122membrane depolarization during action potential (GO:0086010)2.83420284
123central nervous system neuron axonogenesis (GO:0021955)2.83026495
124regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.83019124
125regulation of neurotransmitter transport (GO:0051588)2.81840919
126regulation of dendritic spine development (GO:0060998)2.81578148
127cell communication involved in cardiac conduction (GO:0086065)2.73033619
128regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.71026206
129potassium ion import (GO:0010107)2.65786106
130vascular smooth muscle contraction (GO:0014829)2.65478898
131regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.64494043
132regulation of cell communication by electrical coupling (GO:0010649)2.61332664
133retina layer formation (GO:0010842)2.60820281
134positive regulation of dendritic spine development (GO:0060999)2.60204054

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.14795105
2GBX2_23144817_ChIP-Seq_PC3_Human4.02774381
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12422141
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08133494
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97669246
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.62850950
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62321912
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62321912
9* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59677990
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.58848402
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.56145400
12* REST_21632747_ChIP-Seq_MESCs_Mouse2.52837355
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41895825
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37818402
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.37543556
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36200222
17AR_21572438_ChIP-Seq_LNCaP_Human2.25038654
18DROSHA_22980978_ChIP-Seq_HELA_Human2.21816656
19TAF15_26573619_Chip-Seq_HEK293_Human2.21111728
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21086509
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.17583413
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.17369384
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.13186156
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07654824
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.00378890
26RARB_27405468_Chip-Seq_BRAIN_Mouse1.99661039
27* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.96048234
28* REST_18959480_ChIP-ChIP_MESCs_Mouse1.94613752
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93631970
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.85888604
31* CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.84477133
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.77894577
33SMAD4_21799915_ChIP-Seq_A2780_Human1.76515788
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.73332861
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.68161529
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.67909006
37P300_19829295_ChIP-Seq_ESCs_Human1.58468493
38SALL1_21062744_ChIP-ChIP_HESCs_Human1.54044422
39PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53823465
40RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.51810354
41* SMAD3_21741376_ChIP-Seq_EPCs_Human1.51323676
42IGF1R_20145208_ChIP-Seq_DFB_Human1.50547755
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.48350925
44ZNF274_21170338_ChIP-Seq_K562_Hela1.48058834
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43780318
46* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42839996
47* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40629328
48BMI1_23680149_ChIP-Seq_NPCS_Mouse1.39797745
49* ESR1_21235772_ChIP-Seq_MCF-7_Human1.39272579
50POU3F2_20337985_ChIP-ChIP_501MEL_Human1.39116834
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.38635013
52* ESR2_21235772_ChIP-Seq_MCF-7_Human1.35031885
53* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35019139
54RNF2_27304074_Chip-Seq_NSC_Mouse1.34861347
55GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33997294
56RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.33514864
57* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33195844
58* AR_25329375_ChIP-Seq_VCAP_Human1.32074078
59FUS_26573619_Chip-Seq_HEK293_Human1.31708221
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.31423627
61RING1B_27294783_Chip-Seq_ESCs_Mouse1.30981303
62EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30702833
63ERG_21242973_ChIP-ChIP_JURKAT_Human1.29616336
64STAT3_23295773_ChIP-Seq_U87_Human1.27149287
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26254722
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.26023907
67ESR1_20079471_ChIP-ChIP_T-47D_Human1.25602939
68ESR1_15608294_ChIP-ChIP_MCF-7_Human1.24952557
69MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.21537896
70* ER_23166858_ChIP-Seq_MCF-7_Human1.19399954
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.18189235
72* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17769117
73* ARNT_22903824_ChIP-Seq_MCF-7_Human1.15979293
74TCF4_23295773_ChIP-Seq_U87_Human1.15487779
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15210483
76CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.14770616
77RING1B_27294783_Chip-Seq_NPCs_Mouse1.13983660
78* AR_19668381_ChIP-Seq_PC3_Human1.13778814
79* AHR_22903824_ChIP-Seq_MCF-7_Human1.12698533
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.12527529
81* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12291912
82* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12099670
83* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11037593
84* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11037593
85* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10921792
86P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10602974
87FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10205007
88* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09223027
89VDR_22108803_ChIP-Seq_LS180_Human1.09097748
90TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08662754
91STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.07919134
92* RUNX2_22187159_ChIP-Seq_PCA_Human1.07014881
93* PRDM14_20953172_ChIP-Seq_ESCs_Human1.06965727
94CTNNB1_20460455_ChIP-Seq_HCT116_Human1.05761041
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.04488239
96NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03369711
97* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02678990
98RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.02471195
99YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02421032
100TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00837029
101* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00813482
102SOX9_26525672_Chip-Seq_HEART_Mouse1.00535916
103NANOG_18555785_Chip-Seq_ESCs_Mouse0.97738433
104* SMAD3_21741376_ChIP-Seq_ESCs_Human0.95514349
105* JUN_21703547_ChIP-Seq_K562_Human0.95132525
106TP53_18474530_ChIP-ChIP_U2OS_Human0.93473240
107BCAT_22108803_ChIP-Seq_LS180_Human0.88345535
108SMAD4_21741376_ChIP-Seq_HESCs_Human0.88155706
109KDM2B_26808549_Chip-Seq_REH_Human0.87179474
110TP53_16413492_ChIP-PET_HCT116_Human0.87177408
111SMAD3_21741376_ChIP-Seq_HESCs_Human0.86417992
112TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85947934
113* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83692074

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.76919575
2* MP0003880_abnormal_central_pattern4.77095418
3MP0003635_abnormal_synaptic_transmissio4.09061395
4MP0009745_abnormal_behavioral_response3.44351909
5MP0004270_analgesia3.30459735
6MP0002063_abnormal_learning/memory/cond3.27273532
7* MP0002064_seizures3.18857961
8MP0009046_muscle_twitch3.07206973
9MP0001968_abnormal_touch/_nociception3.05454108
10MP0002572_abnormal_emotion/affect_behav2.89706054
11MP0001486_abnormal_startle_reflex2.70159026
12MP0002272_abnormal_nervous_system2.64820021
13* MP0005423_abnormal_somatic_nervous2.57016876
14MP0002734_abnormal_mechanical_nocicepti2.54835911
15MP0002735_abnormal_chemical_nociception2.42959379
16MP0002736_abnormal_nociception_after2.37773406
17MP0003890_abnormal_embryonic-extraembry2.37494740
18MP0001501_abnormal_sleep_pattern2.29510113
19MP0000778_abnormal_nervous_system2.28592606
20MP0001440_abnormal_grooming_behavior2.22295348
21MP0006276_abnormal_autonomic_nervous2.15197581
22MP0002067_abnormal_sensory_capabilities2.13792941
23MP0002184_abnormal_innervation2.05923644
24MP0005645_abnormal_hypothalamus_physiol2.02016665
25MP0002733_abnormal_thermal_nociception2.01318527
26MP0001970_abnormal_pain_threshold1.92999366
27MP0005646_abnormal_pituitary_gland1.92117200
28MP0002557_abnormal_social/conspecific_i1.89510085
29MP0003787_abnormal_imprinting1.83572107
30MP0002822_catalepsy1.79819572
31MP0004924_abnormal_behavior1.78536555
32MP0005386_behavior/neurological_phenoty1.78536555
33MP0003329_amyloid_beta_deposits1.76343873
34MP0001984_abnormal_olfaction1.75148157
35MP0001529_abnormal_vocalization1.67012286
36MP0008569_lethality_at_weaning1.65598054
37MP0004811_abnormal_neuron_physiology1.64952164
38MP0000955_abnormal_spinal_cord1.59784166
39MP0004858_abnormal_nervous_system1.58589891
40MP0004133_heterotaxia1.58314510
41* MP0002882_abnormal_neuron_morphology1.56784578
42MP0004142_abnormal_muscle_tone1.55587213
43MP0001905_abnormal_dopamine_level1.55447713
44MP0004742_abnormal_vestibular_system1.51140890
45MP0003122_maternal_imprinting1.48890656
46MP0001986_abnormal_taste_sensitivity1.47895532
47MP0000579_abnormal_nail_morphology1.46801366
48* MP0002066_abnormal_motor_capabilities/c1.46095774
49MP0004885_abnormal_endolymph1.45072026
50MP0001502_abnormal_circadian_rhythm1.42623921
51MP0009780_abnormal_chondrocyte_physiolo1.38025877
52MP0000462_abnormal_digestive_system1.36748499
53MP0003879_abnormal_hair_cell1.35406590
54MP0001188_hyperpigmentation1.32788902
55MP0002909_abnormal_adrenal_gland1.27332450
56MP0000383_abnormal_hair_follicle1.25022048
57* MP0002152_abnormal_brain_morphology1.23112863
58* MP0005551_abnormal_eye_electrophysiolog1.21822305
59MP0003633_abnormal_nervous_system1.10035921
60MP0002229_neurodegeneration1.08136462
61MP0000631_abnormal_neuroendocrine_gland1.06425397
62MP0000920_abnormal_myelination1.06415109
63MP0003634_abnormal_glial_cell1.04049115
64MP0003631_nervous_system_phenotype1.03343891
65MP0001963_abnormal_hearing_physiology1.01186375
66MP0005409_darkened_coat_color0.99871411
67MP0000569_abnormal_digit_pigmentation0.98129298
68MP0003690_abnormal_glial_cell0.98031281
69* MP0002752_abnormal_somatic_nervous0.97149089
70MP0002069_abnormal_eating/drinking_beha0.92880170
71MP0000751_myopathy0.88850808
72MP0003632_abnormal_nervous_system0.87259052
73MP0008872_abnormal_physiological_respon0.84834342
74MP0005394_taste/olfaction_phenotype0.84315502
75MP0005499_abnormal_olfactory_system0.84315502
76MP0001177_atelectasis0.83192948
77MP0005171_absent_coat_pigmentation0.81960499
78MP0004147_increased_porphyrin_level0.80797803
79MP0004085_abnormal_heartbeat0.77993246
80MP0000604_amyloidosis0.77917891
81MP0010678_abnormal_skin_adnexa0.77271956
82MP0006072_abnormal_retinal_apoptosis0.77069525
83MP0001485_abnormal_pinna_reflex0.76908020
84MP0003119_abnormal_digestive_system0.73145342
85MP0000026_abnormal_inner_ear0.72758313
86MP0000538_abnormal_urinary_bladder0.72555508
87MP0004130_abnormal_muscle_cell0.72021187
88* MP0003861_abnormal_nervous_system0.71829432
89MP0004264_abnormal_extraembryonic_tissu0.71640751
90MP0008874_decreased_physiological_sensi0.71596415
91MP0000647_abnormal_sebaceous_gland0.69981235
92MP0004145_abnormal_muscle_electrophysio0.69763266
93MP0003136_yellow_coat_color0.69293195
94MP0002837_dystrophic_cardiac_calcinosis0.69048491
95MP0005379_endocrine/exocrine_gland_phen0.68263622
96MP0010386_abnormal_urinary_bladder0.66546481
97MP0000427_abnormal_hair_cycle0.66413116
98MP0002876_abnormal_thyroid_physiology0.66229570
99MP0005535_abnormal_body_temperature0.65945480
100MP0003137_abnormal_impulse_conducting0.65735186
101MP0002102_abnormal_ear_morphology0.65018068
102MP0002090_abnormal_vision0.64288314
103MP0000516_abnormal_urinary_system0.64171992
104MP0005367_renal/urinary_system_phenotyp0.64171992
105MP0001664_abnormal_digestion0.64013737
106MP0003172_abnormal_lysosome_physiology0.63782720
107MP0003183_abnormal_peptide_metabolism0.63295278
108MP0003123_paternal_imprinting0.62982117
109* MP0001943_abnormal_respiration0.62939115
110MP0001299_abnormal_eye_distance/0.62371581
111MP0004215_abnormal_myocardial_fiber0.60888294
112MP0004043_abnormal_pH_regulation0.60110380
113MP0003121_genomic_imprinting0.59943171
114MP0008877_abnormal_DNA_methylation0.59940040
115MP0002638_abnormal_pupillary_reflex0.59931062
116MP0004381_abnormal_hair_follicle0.59893012
117MP0005253_abnormal_eye_physiology0.59162289
118MP0003938_abnormal_ear_development0.58901082
119* MP0002082_postnatal_lethality0.58747213
120* MP0010770_preweaning_lethality0.58747213
121MP0005623_abnormal_meninges_morphology0.58666635
122MP0002751_abnormal_autonomic_nervous0.58408710
123* MP0010769_abnormal_survival0.57675191
124* MP0010768_mortality/aging0.54195678

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.19428012
2Myokymia (HP:0002411)5.57559487
3Focal seizures (HP:0007359)5.45862776
4Epileptic encephalopathy (HP:0200134)4.97122994
5Atonic seizures (HP:0010819)4.66888235
6Visual hallucinations (HP:0002367)4.48564445
7Febrile seizures (HP:0002373)4.34093632
8Progressive cerebellar ataxia (HP:0002073)4.23807712
9Hyperventilation (HP:0002883)4.05874166
10Absence seizures (HP:0002121)4.01555258
11Dialeptic seizures (HP:0011146)3.75865216
12Broad-based gait (HP:0002136)3.75625198
13Generalized tonic-clonic seizures (HP:0002069)3.60319574
14Supranuclear gaze palsy (HP:0000605)3.55721364
15Drooling (HP:0002307)3.23391032
16Excessive salivation (HP:0003781)3.23391032
17Action tremor (HP:0002345)3.12695656
18Amblyopia (HP:0000646)3.04553745
19Progressive inability to walk (HP:0002505)3.01016462
20Obstructive sleep apnea (HP:0002870)2.96398122
21Gaze-evoked nystagmus (HP:0000640)2.96329440
22Mutism (HP:0002300)2.96277302
23Ankle clonus (HP:0011448)2.93979882
24Dysdiadochokinesis (HP:0002075)2.92070199
25Truncal ataxia (HP:0002078)2.89087715
26Poor eye contact (HP:0000817)2.88091793
27Abnormal eating behavior (HP:0100738)2.87142333
28Limb dystonia (HP:0002451)2.86885809
29Dysmetria (HP:0001310)2.81420711
30Absent speech (HP:0001344)2.78395240
31Abnormality of the corticospinal tract (HP:0002492)2.76402850
32Polyphagia (HP:0002591)2.73944024
33Fetal akinesia sequence (HP:0001989)2.73447317
34Impaired vibration sensation in the lower limbs (HP:0002166)2.71454899
35Impaired social interactions (HP:0000735)2.65696276
36Abnormal social behavior (HP:0012433)2.65696276
37Hemiparesis (HP:0001269)2.65268819
38Neurofibrillary tangles (HP:0002185)2.63752284
39Spastic gait (HP:0002064)2.62880384
40Oligodactyly (hands) (HP:0001180)2.59824337
41Depression (HP:0000716)2.59022657
42Akinesia (HP:0002304)2.58860846
43Postural instability (HP:0002172)2.58441845
44Urinary bladder sphincter dysfunction (HP:0002839)2.58005495
45Epileptiform EEG discharges (HP:0011182)2.57286868
46Anxiety (HP:0000739)2.55723234
47Blue irides (HP:0000635)2.55326154
48Hip dysplasia (HP:0001385)2.53035924
49Cerebral inclusion bodies (HP:0100314)2.51353005
50Pheochromocytoma (HP:0002666)2.47044671
51Congenital malformation of the right heart (HP:0011723)2.44622562
52Double outlet right ventricle (HP:0001719)2.44622562
53EEG with generalized epileptiform discharges (HP:0011198)2.42134150
54Gait imbalance (HP:0002141)2.36966782
55Aqueductal stenosis (HP:0002410)2.35233680
56Protruding tongue (HP:0010808)2.35228297
57Urinary urgency (HP:0000012)2.33342925
58Carpal bone hypoplasia (HP:0001498)2.33219516
59Hand muscle atrophy (HP:0009130)2.31033159
60Concave nail (HP:0001598)2.30563461
61Inability to walk (HP:0002540)2.28900247
62Hypsarrhythmia (HP:0002521)2.28601553
63Aplasia/Hypoplasia of the tibia (HP:0005772)2.28097137
64Bradykinesia (HP:0002067)2.25633910
65Termporal pattern (HP:0011008)2.25384087
66Insidious onset (HP:0003587)2.25384087
67Abnormality of salivation (HP:0100755)2.24921650
68Scanning speech (HP:0002168)2.23926965
69Degeneration of the lateral corticospinal tracts (HP:0002314)2.23631649
70Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.23631649
71Down-sloping shoulders (HP:0200021)2.22519914
72Spinal muscular atrophy (HP:0007269)2.21151286
73Diplopia (HP:0000651)2.20961157
74Abnormality of binocular vision (HP:0011514)2.20961157
75Genetic anticipation (HP:0003743)2.20116070
76Hemiplegia (HP:0002301)2.13645558
77Lower limb muscle weakness (HP:0007340)2.13610638
78Specific learning disability (HP:0001328)2.13572170
79Neuroendocrine neoplasm (HP:0100634)2.13137038
80Generalized myoclonic seizures (HP:0002123)2.12730276
81Aplasia of the musculature (HP:0100854)2.10821395
82Intention tremor (HP:0002080)2.09399161
83Stereotypic behavior (HP:0000733)2.09041378
84Diaphragmatic weakness (HP:0009113)2.08931141
85Midline defect of the nose (HP:0004122)2.06788181
86Esotropia (HP:0000565)2.06764499
87Papilledema (HP:0001085)2.05799031
88Short tibia (HP:0005736)2.04030855
89Status epilepticus (HP:0002133)2.02679844
90Torticollis (HP:0000473)2.00662014
91Morphological abnormality of the pyramidal tract (HP:0002062)1.99843905
92Retinal atrophy (HP:0001105)1.98844307
93Retinal dysplasia (HP:0007973)1.98462792
94Peripheral hypomyelination (HP:0007182)1.97310368
95Impaired smooth pursuit (HP:0007772)1.95529647
96Dynein arm defect of respiratory motile cilia (HP:0012255)1.92452404
97Absent/shortened dynein arms (HP:0200106)1.92452404
98Agitation (HP:0000713)1.92347283
99Hypoplasia of the brainstem (HP:0002365)1.92073847
100Aplasia/Hypoplasia of the brainstem (HP:0007362)1.92073847
101J-shaped sella turcica (HP:0002680)1.90443162
102Neoplasm of the peripheral nervous system (HP:0100007)1.88751963
103Widely spaced teeth (HP:0000687)1.88287704
104Abnormality of the middle phalanges of the toes (HP:0010183)1.87430547
105Stridor (HP:0010307)1.86663371
106Congenital primary aphakia (HP:0007707)1.85581875
107Inappropriate behavior (HP:0000719)1.85210411
108Abnormality of the parathyroid morphology (HP:0011766)1.85092909
109Hyperthyroidism (HP:0000836)1.84970130
110Abnormality of the lower motor neuron (HP:0002366)1.84958681
111Oligodactyly (HP:0012165)1.84822201
112Focal dystonia (HP:0004373)1.84723209
113Hip contracture (HP:0003273)1.84583615
114Pachygyria (HP:0001302)1.84582640
115Type II lissencephaly (HP:0007260)1.83510933
116Narrow nasal bridge (HP:0000446)1.83345073
117Medial flaring of the eyebrow (HP:0010747)1.80882059
118Failure to thrive in infancy (HP:0001531)1.80468689
119Gastroesophageal reflux (HP:0002020)1.79917685
120Exotropia (HP:0000577)1.79323257
121Sporadic (HP:0003745)1.78294514
122Abnormality of ocular smooth pursuit (HP:0000617)1.78199719
123Hypoventilation (HP:0002791)1.77909520
124Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.77837013
125Lower limb asymmetry (HP:0100559)1.77706211
126Intestinal atresia (HP:0011100)1.77638341
127Megalencephaly (HP:0001355)1.76788162
128Lissencephaly (HP:0001339)1.76596704
129Sleep apnea (HP:0010535)1.75712527
130Optic nerve hypoplasia (HP:0000609)1.75681748
131Psychosis (HP:0000709)1.75369442
132Nephrogenic diabetes insipidus (HP:0009806)1.75104580
133Absent septum pellucidum (HP:0001331)1.73081877
134Increased circulating renin level (HP:0000848)1.72303141
135Limb-girdle muscle atrophy (HP:0003797)1.70958190
136Aplasia/Hypoplasia involving the musculature (HP:0001460)1.69923521
137Disproportionate short-trunk short stature (HP:0003521)1.67266500
138Vaginal atresia (HP:0000148)1.67210824
139Genital tract atresia (HP:0001827)1.67042705
140Abnormality of the astrocytes (HP:0100707)1.65995239
141Astrocytoma (HP:0009592)1.65995239
142Hepatoblastoma (HP:0002884)1.65684625
143Intellectual disability, severe (HP:0010864)1.65627409
144Papillary thyroid carcinoma (HP:0002895)1.64494942
145Amelogenesis imperfecta (HP:0000705)1.63732507
146Heterotopia (HP:0002282)1.61907055
147Spinal cord compression (HP:0002176)1.61111655
148Muscle fiber splitting (HP:0003555)1.60743631
149Distal upper limb amyotrophy (HP:0007149)1.59158346
150Upper limb amyotrophy (HP:0009129)1.59158346

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.73641645
2MARK14.00492830
3CASK3.74355719
4EPHA43.22137853
5MAP3K93.06281412
6MAP3K43.04057338
7NTRK22.67908959
8MAP2K72.66573313
9TNIK2.39332675
10MINK12.36782178
11MAP3K122.34584734
12MAPK132.04812800
13PIK3CA2.00278257
14FRK1.98259859
15PNCK1.96312548
16PAK61.93381513
17PINK11.84591425
18DAPK21.83161235
19MAP2K41.77888084
20TRIM281.61634305
21ERBB41.56695744
22FES1.54385964
23KSR11.52267485
24PLK21.48540987
25CDK51.47884328
26TYRO31.43169305
27NTRK11.41285640
28RIPK41.35296073
29PHKG11.35091795
30PHKG21.35091795
31SIK21.32311278
32GRK51.29254495
33UHMK11.27062238
34PRPF4B1.25451979
35CDK191.24210518
36PKN21.17404306
37OXSR11.14654839
38KSR21.13993778
39CAMK2A1.11485060
40PRKCG1.09648326
41DAPK11.09303733
42BMPR1B1.02077798
43CAMKK10.97176613
44SIK10.96426216
45PRKD30.95769702
46PKN10.92972897
47RPS6KB10.92935158
48CAMK2B0.90876555
49CSNK1G20.90713286
50SGK4940.89217495
51SGK2230.89217495
52TNK20.88617982
53MAP4K20.86925998
54FGR0.86466512
55GRK70.86280749
56STK110.85199012
57PAK30.84399304
58STK390.81077628
59DYRK1A0.80881748
60CDK180.77447607
61MAP3K130.76640660
62CAMK1G0.75241950
63STK380.75133323
64BCR0.74992319
65SIK30.74528107
66CDK150.73486064
67CAMK10.72655994
68RET0.72429135
69CDK140.72421185
70SGK20.72151321
71SGK10.70267511
72ARAF0.69734824
73NME10.69652782
74GRK10.69473849
75LATS20.69094586
76CCNB10.67864254
77PTK2B0.66768590
78MARK20.65315482
79MUSK0.65219461
80CAMK40.64972742
81DYRK20.63195915
82CSNK1D0.62910366
83CDK11A0.62376717
84WNK30.61033665
85MAP3K20.60737811
86PRKCE0.60690718
87MAP2K10.59637871
88BMPR20.59339780
89FGFR20.59213855
90ICK0.56234435
91PRKCH0.54495060
92NEK60.54470281
93CAMK2D0.53216436
94PRKCZ0.52335324
95CLK10.51668507
96SGK30.50494484
97AKT30.50314782
98MAP3K60.48365928
99ADRBK20.47616594
100MAP3K70.47351498
101FYN0.47243233
102ROCK20.46682437
103CSNK1G30.45946748
104RPS6KA30.45907084
105FER0.45197435
106TAOK30.44878693
107ROCK10.44804200
108PRKCI0.44751355
109CAMK2G0.44190013
110ADRBK10.40569282
111CHUK0.40270135
112MKNK20.39801601
113GSK3B0.39629026
114EIF2AK20.39542161
115MAPK40.38884220
116MAPK80.37798468
117IRAK20.37570779
118MAPKAPK50.36771592
119MAPK100.36357508
120PBK0.35992630
121CAMKK20.35466084
122WNK40.35423921
123CSNK1A10.35201631
124PRKCB0.35102190
125PRKG10.34999921
126PRKACA0.34965189
127RAF10.34772113
128MAP3K10.34678677
129ERBB30.34431498
130CDK30.34382800
131TAOK10.34018395
132PDPK10.33898335

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.13807779
2Synaptic vesicle cycle_Homo sapiens_hsa047213.14586241
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.84075794
4GABAergic synapse_Homo sapiens_hsa047272.75883269
5Glutamatergic synapse_Homo sapiens_hsa047242.71625981
6Circadian entrainment_Homo sapiens_hsa047132.64302661
7Morphine addiction_Homo sapiens_hsa050322.55708890
8Olfactory transduction_Homo sapiens_hsa047402.54387624
9Long-term potentiation_Homo sapiens_hsa047202.37972653
10Amphetamine addiction_Homo sapiens_hsa050312.32342320
11Dopaminergic synapse_Homo sapiens_hsa047282.13511426
12Salivary secretion_Homo sapiens_hsa049702.05712053
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.89482782
14Serotonergic synapse_Homo sapiens_hsa047261.88827248
15Cholinergic synapse_Homo sapiens_hsa047251.88186622
16Insulin secretion_Homo sapiens_hsa049111.84461995
17Taste transduction_Homo sapiens_hsa047421.82502657
18Long-term depression_Homo sapiens_hsa047301.82189627
19Gastric acid secretion_Homo sapiens_hsa049711.75420935
20Collecting duct acid secretion_Homo sapiens_hsa049661.73388101
21Cocaine addiction_Homo sapiens_hsa050301.69547791
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68562580
23Renin secretion_Homo sapiens_hsa049241.65471342
24Oxytocin signaling pathway_Homo sapiens_hsa049211.59689177
25Calcium signaling pathway_Homo sapiens_hsa040201.56517027
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.55733386
27Axon guidance_Homo sapiens_hsa043601.55175200
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55131728
29GnRH signaling pathway_Homo sapiens_hsa049121.44430455
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.33930770
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32442113
32Gap junction_Homo sapiens_hsa045401.32239276
33Phototransduction_Homo sapiens_hsa047441.29795693
34Cardiac muscle contraction_Homo sapiens_hsa042601.21697732
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.18096424
36cAMP signaling pathway_Homo sapiens_hsa040241.16413105
37Vibrio cholerae infection_Homo sapiens_hsa051101.14004235
38Estrogen signaling pathway_Homo sapiens_hsa049151.13671398
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11936109
40ErbB signaling pathway_Homo sapiens_hsa040121.09458657
41Glioma_Homo sapiens_hsa052141.08634352
42Type II diabetes mellitus_Homo sapiens_hsa049301.08199392
43Nitrogen metabolism_Homo sapiens_hsa009101.02634593
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01871134
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.97357319
46Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.96782362
47Melanogenesis_Homo sapiens_hsa049160.96614559
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.96201827
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.95868693
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89978862
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89061717
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88794282
53Bile secretion_Homo sapiens_hsa049760.88645795
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.87638692
55Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.87469396
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.86496337
57Dorso-ventral axis formation_Homo sapiens_hsa043200.86329853
58Oxidative phosphorylation_Homo sapiens_hsa001900.81230378
59MAPK signaling pathway_Homo sapiens_hsa040100.81123131
60beta-Alanine metabolism_Homo sapiens_hsa004100.80382751
61Alzheimers disease_Homo sapiens_hsa050100.77302931
62Choline metabolism in cancer_Homo sapiens_hsa052310.76534529
63Vitamin B6 metabolism_Homo sapiens_hsa007500.76191950
64Longevity regulating pathway - mammal_Homo sapiens_hsa042110.76057085
65ABC transporters_Homo sapiens_hsa020100.75372143
66Dilated cardiomyopathy_Homo sapiens_hsa054140.75300153
67Pancreatic secretion_Homo sapiens_hsa049720.72496061
68Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.71103906
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69369204
70Propanoate metabolism_Homo sapiens_hsa006400.68671485
71Regulation of autophagy_Homo sapiens_hsa041400.66765566
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66685878
73mTOR signaling pathway_Homo sapiens_hsa041500.65843954
74Ras signaling pathway_Homo sapiens_hsa040140.65480401
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.65039634
76Thyroid hormone synthesis_Homo sapiens_hsa049180.64090649
77Oocyte meiosis_Homo sapiens_hsa041140.60429674
78Tight junction_Homo sapiens_hsa045300.58443867
79Renal cell carcinoma_Homo sapiens_hsa052110.57477294
80Hippo signaling pathway_Homo sapiens_hsa043900.54942640
81Neurotrophin signaling pathway_Homo sapiens_hsa047220.54066829
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53557757
83Alcoholism_Homo sapiens_hsa050340.53365521
84Parkinsons disease_Homo sapiens_hsa050120.51901354
85Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.51622657
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.51353239
87Type I diabetes mellitus_Homo sapiens_hsa049400.49579964
88Fatty acid metabolism_Homo sapiens_hsa012120.49287664
89Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48986361
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.48603745
91Prion diseases_Homo sapiens_hsa050200.46813384
92Rap1 signaling pathway_Homo sapiens_hsa040150.46769716
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46623914
94Lysine degradation_Homo sapiens_hsa003100.45951101
95VEGF signaling pathway_Homo sapiens_hsa043700.45559048
96Ovarian steroidogenesis_Homo sapiens_hsa049130.44948229
97AMPK signaling pathway_Homo sapiens_hsa041520.44044812
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43881505
99Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.43839707
100Rheumatoid arthritis_Homo sapiens_hsa053230.43734218
101Histidine metabolism_Homo sapiens_hsa003400.43335567
102Melanoma_Homo sapiens_hsa052180.42800366
103Wnt signaling pathway_Homo sapiens_hsa043100.42719711
104Glucagon signaling pathway_Homo sapiens_hsa049220.40068647
105Protein export_Homo sapiens_hsa030600.40051625
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39467879
107TGF-beta signaling pathway_Homo sapiens_hsa043500.38591896
108African trypanosomiasis_Homo sapiens_hsa051430.37558565
109Endocytosis_Homo sapiens_hsa041440.37431492
110Inositol phosphate metabolism_Homo sapiens_hsa005620.37299162
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36717486
112Huntingtons disease_Homo sapiens_hsa050160.36457311
113Circadian rhythm_Homo sapiens_hsa047100.36076381
114Ether lipid metabolism_Homo sapiens_hsa005650.34612574
115Chemokine signaling pathway_Homo sapiens_hsa040620.34101454
116Endometrial cancer_Homo sapiens_hsa052130.32871804
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32367330
118SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31439687
119Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.30380736
120Butanoate metabolism_Homo sapiens_hsa006500.27588442
121Hedgehog signaling pathway_Homo sapiens_hsa043400.27222562
122Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26934445
123Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.26587224

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