SRGAP2B

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 locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1presynaptic membrane assembly (GO:0097105)4.67158248
2presynaptic membrane organization (GO:0097090)4.06324222
3regulation of DNA endoreduplication (GO:0032875)3.72374824
4limb bud formation (GO:0060174)3.70204992
5DNA double-strand break processing (GO:0000729)3.69390557
6postsynaptic membrane organization (GO:0001941)3.68397336
7negative regulation of axon extension involved in axon guidance (GO:0048843)3.35247379
8replication fork processing (GO:0031297)3.34810247
9cell proliferation in forebrain (GO:0021846)3.25931681
10negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.20207828
11negative regulation of translation, ncRNA-mediated (GO:0040033)3.20207828
12regulation of translation, ncRNA-mediated (GO:0045974)3.20207828
13negative regulation of systemic arterial blood pressure (GO:0003085)3.18260106
14negative regulation of dendrite development (GO:2000171)3.08893260
15negative regulation of axon guidance (GO:1902668)3.07849857
16G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.06871692
17response to pheromone (GO:0019236)3.03491367
18transmission of nerve impulse (GO:0019226)3.02475686
19gamma-aminobutyric acid transport (GO:0015812)3.02118745
20kinetochore organization (GO:0051383)2.96784370
21pyrimidine nucleobase catabolic process (GO:0006208)2.95200667
22negative regulation of DNA-dependent DNA replication (GO:2000104)2.92977123
23synapsis (GO:0007129)2.89604105
24membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.79806552
25regulation of collateral sprouting (GO:0048670)2.79719376
26kinetochore assembly (GO:0051382)2.79426949
27behavioral response to nicotine (GO:0035095)2.74982660
28protein K6-linked ubiquitination (GO:0085020)2.72096489
29dorsal/ventral axis specification (GO:0009950)2.71438969
30retinal ganglion cell axon guidance (GO:0031290)2.71376461
31maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.70750101
32atrial cardiac muscle cell action potential (GO:0086014)2.69105651
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.68170235
34olfactory bulb development (GO:0021772)2.65630569
35vocalization behavior (GO:0071625)2.65538655
36neuron cell-cell adhesion (GO:0007158)2.64762327
37negative regulation of transcription regulatory region DNA binding (GO:2000678)2.63592102
38C4-dicarboxylate transport (GO:0015740)2.63575269
39mechanosensory behavior (GO:0007638)2.61017650
40microtubule depolymerization (GO:0007019)2.60942687
41positive regulation of cardiac muscle cell differentiation (GO:2000727)2.60495530
42positive regulation of protein autophosphorylation (GO:0031954)2.60093989
43regulation of timing of cell differentiation (GO:0048505)2.58552019
44recombinational repair (GO:0000725)2.56732895
45retinal cone cell development (GO:0046549)2.55649869
46cerebral cortex radially oriented cell migration (GO:0021799)2.54438016
47glycosphingolipid biosynthetic process (GO:0006688)2.53473809
48regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.51807930
49microtubule anchoring (GO:0034453)2.51350612
50double-strand break repair via homologous recombination (GO:0000724)2.50904357
51nucleobase catabolic process (GO:0046113)2.49551482
52resolution of meiotic recombination intermediates (GO:0000712)2.48911497
53photoreceptor cell development (GO:0042461)2.48430761
54ganglion development (GO:0061548)2.48252625
55histone exchange (GO:0043486)2.46302997
56proline transport (GO:0015824)2.45827604
57appendage development (GO:0048736)2.45274297
58limb development (GO:0060173)2.45274297
59metaphase plate congression (GO:0051310)2.44957845
60auditory behavior (GO:0031223)2.44285117
61protein K11-linked deubiquitination (GO:0035871)2.43957714
62protein heterotetramerization (GO:0051290)2.43400562
63regulation of centriole replication (GO:0046599)2.41527439
64spinal cord development (GO:0021510)2.41287503
65negative chemotaxis (GO:0050919)2.41065786
66meiotic chromosome segregation (GO:0045132)2.40959752
67neurotransmitter-gated ion channel clustering (GO:0072578)2.40572905
68regulation of sarcomere organization (GO:0060297)2.40497644
69intraciliary transport (GO:0042073)2.40251273
70regulation of axon extension involved in axon guidance (GO:0048841)2.39983836
71cornea development in camera-type eye (GO:0061303)2.39618066
72otic vesicle formation (GO:0030916)2.39106272
73nonmotile primary cilium assembly (GO:0035058)2.39090745
74microtubule polymerization or depolymerization (GO:0031109)2.39086637
75protein polyglutamylation (GO:0018095)2.39036327
76regulation of hippo signaling (GO:0035330)2.38924331
77startle response (GO:0001964)2.37870684
78chromatin remodeling at centromere (GO:0031055)2.37552493
79cilium morphogenesis (GO:0060271)2.37234131
80sulfation (GO:0051923)2.37112622
81glutamate receptor signaling pathway (GO:0007215)2.35381629
82neuronal action potential propagation (GO:0019227)2.35050319
83detection of light stimulus involved in visual perception (GO:0050908)2.34624915
84detection of light stimulus involved in sensory perception (GO:0050962)2.34624915
85somite development (GO:0061053)2.33837306
86CENP-A containing nucleosome assembly (GO:0034080)2.33470315
87regulation of axon guidance (GO:1902667)2.33463503
88mitotic sister chromatid cohesion (GO:0007064)2.33123439
89eye photoreceptor cell development (GO:0042462)2.32936211
90regulation of dendritic spine development (GO:0060998)2.32284983
91negative regulation of astrocyte differentiation (GO:0048712)2.31804342
92negative regulation of synaptic transmission, GABAergic (GO:0032229)2.31788182
93sister chromatid segregation (GO:0000819)2.31524047
94microtubule organizing center organization (GO:0031023)2.31321573
95histone H2A acetylation (GO:0043968)2.30960003
96centriole replication (GO:0007099)2.30503983
97regulation of neuron migration (GO:2001222)2.29794371
98protein localization to cilium (GO:0061512)2.29761728
99mitotic sister chromatid segregation (GO:0000070)2.29430287
100sympathetic nervous system development (GO:0048485)2.28183721

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.36324887
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.22389320
3ZFP57_27257070_Chip-Seq_ESCs_Mouse2.95262975
4EZH2_22144423_ChIP-Seq_EOC_Human2.85093164
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.82295128
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.73581357
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.69667854
8FUS_26573619_Chip-Seq_HEK293_Human2.43606996
9TAF15_26573619_Chip-Seq_HEK293_Human2.41877530
10ZNF274_21170338_ChIP-Seq_K562_Hela2.39965912
11VDR_22108803_ChIP-Seq_LS180_Human2.38189660
12CTBP2_25329375_ChIP-Seq_LNCAP_Human2.33448851
13EWS_26573619_Chip-Seq_HEK293_Human2.25373614
14P300_19829295_ChIP-Seq_ESCs_Human2.23324170
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18442990
16AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.14581423
17ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.08147163
18CTBP1_25329375_ChIP-Seq_LNCAP_Human1.99040329
19PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.97771488
20SMAD4_21799915_ChIP-Seq_A2780_Human1.96671256
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.94952566
22IGF1R_20145208_ChIP-Seq_DFB_Human1.88512817
23SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.88132497
24SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87306614
25PIAS1_25552417_ChIP-Seq_VCAP_Human1.79615751
26BCAT_22108803_ChIP-Seq_LS180_Human1.76701489
27MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.74848486
28OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.72792551
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.72399911
30CBX2_27304074_Chip-Seq_ESCs_Mouse1.70279654
31SMAD3_21741376_ChIP-Seq_EPCs_Human1.68530287
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.68462765
33ER_23166858_ChIP-Seq_MCF-7_Human1.64266951
34FOXM1_23109430_ChIP-Seq_U2OS_Human1.60660605
35UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.56817441
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.56645202
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.56546062
38STAT3_23295773_ChIP-Seq_U87_Human1.56540180
39POU5F1_16153702_ChIP-ChIP_HESCs_Human1.54000525
40TOP2B_26459242_ChIP-Seq_MCF-7_Human1.53229138
41AR_25329375_ChIP-Seq_VCAP_Human1.52726130
42IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.45865539
43CBP_20019798_ChIP-Seq_JUKART_Human1.45865539
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.45212203
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.43829684
46TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.41068219
47TCF4_23295773_ChIP-Seq_U87_Human1.40927001
48NANOG_18555785_Chip-Seq_ESCs_Mouse1.39217666
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.35944748
50EZH2_27294783_Chip-Seq_NPCs_Mouse1.35845968
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.35674617
52RNF2_27304074_Chip-Seq_NSC_Mouse1.35368500
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.35340522
54TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35340522
55TCF4_22108803_ChIP-Seq_LS180_Human1.31499343
56E2F4_17652178_ChIP-ChIP_JURKAT_Human1.30347569
57SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27619730
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27193579
59BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.26259572
60AR_21572438_ChIP-Seq_LNCaP_Human1.25269714
61TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24836864
62TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.24574716
63FLI1_21867929_ChIP-Seq_TH2_Mouse1.23012059
64EZH2_27304074_Chip-Seq_ESCs_Mouse1.22721399
65EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22376359
66RUNX2_22187159_ChIP-Seq_PCA_Human1.21254415
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.20039136
68EED_16625203_ChIP-ChIP_MESCs_Mouse1.19360922
69SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.19128126
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18844629
71PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18569346
72CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18226540
73SOX9_26525672_Chip-Seq_HEART_Mouse1.17794747
74P53_22387025_ChIP-Seq_ESCs_Mouse1.17380882
75FOXM1_26456572_ChIP-Seq_MCF-7_Human1.17096311
76SMAD4_21741376_ChIP-Seq_EPCs_Human1.16800699
77KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.16616217
78TP53_16413492_ChIP-PET_HCT116_Human1.16239351
79TP53_18474530_ChIP-ChIP_U2OS_Human1.16118882
80SOX2_21211035_ChIP-Seq_LN229_Gbm1.14079357
81ELK1_19687146_ChIP-ChIP_HELA_Human1.12625063
82NFE2_27457419_Chip-Seq_LIVER_Mouse1.11968329
83E2F1_18555785_Chip-Seq_ESCs_Mouse1.11895390
84CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11752788
85PCGF2_27294783_Chip-Seq_NPCs_Mouse1.11288274
86STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11135614
87TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.10998779
88REST_21632747_ChIP-Seq_MESCs_Mouse1.10271664
89TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08781998
90CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.08484666
91KDM2B_26808549_Chip-Seq_REH_Human1.07941961
92RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07652719
93CMYC_18555785_Chip-Seq_ESCs_Mouse1.07531239
94RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.06576191
95BMI1_23680149_ChIP-Seq_NPCS_Mouse1.06471694
96TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05575764
97JUN_21703547_ChIP-Seq_K562_Human1.05047360
98CRX_20693478_ChIP-Seq_RETINA_Mouse1.04210737
99SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.04121070
100JARID2_20064375_ChIP-Seq_MESCs_Mouse1.04112097

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis2.99267548
2MP0003880_abnormal_central_pattern2.94670727
3MP0002736_abnormal_nociception_after2.45488761
4MP0000569_abnormal_digit_pigmentation2.38918309
5MP0006292_abnormal_olfactory_placode2.30232689
6MP0001485_abnormal_pinna_reflex2.24028229
7MP0001968_abnormal_touch/_nociception2.22089732
8MP0005367_renal/urinary_system_phenotyp2.07687356
9MP0000516_abnormal_urinary_system2.07687356
10MP0008877_abnormal_DNA_methylation2.04561078
11MP0005551_abnormal_eye_electrophysiolog1.93084963
12MP0002102_abnormal_ear_morphology1.93038085
13MP0001486_abnormal_startle_reflex1.89508478
14MP0003787_abnormal_imprinting1.85769382
15MP0000778_abnormal_nervous_system1.84590130
16MP0006054_spinal_hemorrhage1.83847944
17MP0002938_white_spotting1.82318716
18MP0009046_muscle_twitch1.77477970
19MP0004270_analgesia1.73587103
20MP0005171_absent_coat_pigmentation1.72688862
21MP0002734_abnormal_mechanical_nocicepti1.70503578
22MP0010094_abnormal_chromosome_stability1.69005900
23MP0009745_abnormal_behavioral_response1.67707435
24MP0004885_abnormal_endolymph1.63234580
25MP0002272_abnormal_nervous_system1.62897259
26MP0003890_abnormal_embryonic-extraembry1.58749405
27MP0005253_abnormal_eye_physiology1.57220587
28MP0002735_abnormal_chemical_nociception1.53458799
29MP0008789_abnormal_olfactory_epithelium1.51484805
30MP0003937_abnormal_limbs/digits/tail_de1.51383959
31MP0003136_yellow_coat_color1.47248977
32MP0003635_abnormal_synaptic_transmissio1.46060495
33MP0005084_abnormal_gallbladder_morpholo1.45983489
34MP0005646_abnormal_pituitary_gland1.44403369
35MP0002233_abnormal_nose_morphology1.43224173
36MP0000372_irregular_coat_pigmentation1.41915385
37MP0000049_abnormal_middle_ear1.41750826
38MP0000631_abnormal_neuroendocrine_gland1.40954256
39MP0003755_abnormal_palate_morphology1.38656731
40MP0001984_abnormal_olfaction1.37892185
41MP0006072_abnormal_retinal_apoptosis1.34135354
42MP0002064_seizures1.31279916
43MP0004859_abnormal_synaptic_plasticity1.29407066
44MP0002572_abnormal_emotion/affect_behav1.28738594
45MP0009250_abnormal_appendicular_skeleto1.27417716
46MP0002751_abnormal_autonomic_nervous1.26127298
47MP0008058_abnormal_DNA_repair1.25139759
48MP0003119_abnormal_digestive_system1.24968899
49MP0002638_abnormal_pupillary_reflex1.24865390
50MP0005174_abnormal_tail_pigmentation1.24031623
51MP0002653_abnormal_ependyma_morphology1.23846287
52MP0005394_taste/olfaction_phenotype1.23490781
53MP0005499_abnormal_olfactory_system1.23490781
54MP0002063_abnormal_learning/memory/cond1.21682952
55MP0001529_abnormal_vocalization1.21495374
56MP0002557_abnormal_social/conspecific_i1.20908194
57MP0004215_abnormal_myocardial_fiber1.20230208
58MP0003718_maternal_effect1.17969446
59MP0002282_abnormal_trachea_morphology1.15668838
60MP0003121_genomic_imprinting1.14564303
61MP0002184_abnormal_innervation1.14481313
62MP0005187_abnormal_penis_morphology1.14051849
63MP0002067_abnormal_sensory_capabilities1.12562320
64MP0002160_abnormal_reproductive_system1.12001786
65MP0001293_anophthalmia1.11541696
66MP0005248_abnormal_Harderian_gland1.11494775
67MP0000427_abnormal_hair_cycle1.11487877
68MP0009053_abnormal_anal_canal1.11160570
69MP0004142_abnormal_muscle_tone1.10923508
70MP0001970_abnormal_pain_threshold1.09944446
71MP0006276_abnormal_autonomic_nervous1.09897329
72MP0002928_abnormal_bile_duct1.08458193
73MP0004133_heterotaxia1.06975609
74MP0001177_atelectasis1.06530406
75MP0008872_abnormal_physiological_respon1.04806412
76MP0005195_abnormal_posterior_eye1.02974072
77MP0000647_abnormal_sebaceous_gland1.01857111
78MP0002752_abnormal_somatic_nervous0.99274525
79MP0002733_abnormal_thermal_nociception0.96654127
80MP0001986_abnormal_taste_sensitivity0.96226586
81MP0005386_behavior/neurological_phenoty0.94371896
82MP0004924_abnormal_behavior0.94371896
83MP0003935_abnormal_craniofacial_develop0.94112489
84MP0003011_delayed_dark_adaptation0.92758825
85MP0005423_abnormal_somatic_nervous0.92480168
86MP0000955_abnormal_spinal_cord0.92063804
87MP0003861_abnormal_nervous_system0.91136728
88MP0001501_abnormal_sleep_pattern0.91097424
89MP0000026_abnormal_inner_ear0.90905564
90MP0002882_abnormal_neuron_morphology0.89953078
91MP0001324_abnormal_eye_pigmentation0.88957533
92MP0005391_vision/eye_phenotype0.87472708
93MP0001963_abnormal_hearing_physiology0.87350607
94MP0002152_abnormal_brain_morphology0.86286932
95MP0002234_abnormal_pharynx_morphology0.86221100
96MP0003385_abnormal_body_wall0.83681855
97MP0009780_abnormal_chondrocyte_physiolo0.83399857
98MP0001440_abnormal_grooming_behavior0.81851908
99MP0005389_reproductive_system_phenotype0.80163407
100MP0001286_abnormal_eye_development0.80011847

Predicted human phenotypes

RankGene SetZ-score
1True hermaphroditism (HP:0010459)3.53374652
2Hyperventilation (HP:0002883)3.46052290
3Pancreatic cysts (HP:0001737)3.39193269
4Volvulus (HP:0002580)3.33870154
5Pancreatic fibrosis (HP:0100732)3.28089036
6Ectopic kidney (HP:0000086)2.88266203
7Molar tooth sign on MRI (HP:0002419)2.79659490
8Abnormality of midbrain morphology (HP:0002418)2.79659490
9Hemiparesis (HP:0001269)2.78950087
10Progressive cerebellar ataxia (HP:0002073)2.75589411
11Aplasia/Hypoplasia of the uvula (HP:0010293)2.74417544
12Nephronophthisis (HP:0000090)2.69595295
13Intestinal atresia (HP:0011100)2.62411366
14Genetic anticipation (HP:0003743)2.61163425
15Abnormality of the labia minora (HP:0012880)2.60484654
16Abnormality of chromosome stability (HP:0003220)2.59200463
17Meckel diverticulum (HP:0002245)2.49573121
18Chromosomal breakage induced by crosslinking agents (HP:0003221)2.48949128
19Increased corneal curvature (HP:0100692)2.48841857
20Keratoconus (HP:0000563)2.48841857
21Abnormality of the ileum (HP:0001549)2.46443020
22Oligodactyly (hands) (HP:0001180)2.46120925
23Focal motor seizures (HP:0011153)2.44093542
24Focal seizures (HP:0007359)2.40274911
25Gaze-evoked nystagmus (HP:0000640)2.39240103
26Aplasia/Hypoplasia of the tongue (HP:0010295)2.37631544
27Febrile seizures (HP:0002373)2.34381354
28Small hand (HP:0200055)2.32825425
29Aplasia/Hypoplasia of the tibia (HP:0005772)2.32434900
30Pendular nystagmus (HP:0012043)2.32163467
31Abnormality of the renal medulla (HP:0100957)2.30171837
32Medial flaring of the eyebrow (HP:0010747)2.28169647
33Sclerocornea (HP:0000647)2.26232717
34Abnormality of the astrocytes (HP:0100707)2.20398062
35Astrocytoma (HP:0009592)2.20398062
36Cystic liver disease (HP:0006706)2.19256425
37Abnormal lung lobation (HP:0002101)2.18115244
38Chronic hepatic failure (HP:0100626)2.17773321
39Genital tract atresia (HP:0001827)2.16864218
40Renal hypoplasia (HP:0000089)2.14651083
41Chromsome breakage (HP:0040012)2.13655753
42Absent speech (HP:0001344)2.11854061
43Abolished electroretinogram (ERG) (HP:0000550)2.11152334
44Vaginal atresia (HP:0000148)2.08702185
45Preaxial hand polydactyly (HP:0001177)2.07996719
46Sloping forehead (HP:0000340)2.06244410
47Chorioretinal atrophy (HP:0000533)2.04777548
48Gait imbalance (HP:0002141)2.03710549
49Glioma (HP:0009733)2.02889276
50Optic nerve hypoplasia (HP:0000609)2.02506475
51Anencephaly (HP:0002323)2.02015953
52Action tremor (HP:0002345)2.00645027
53Postaxial hand polydactyly (HP:0001162)1.98344946
54Congenital stationary night blindness (HP:0007642)1.97428224
55Drooling (HP:0002307)1.97100567
56Atonic seizures (HP:0010819)1.96534933
57Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.96506655
58Postaxial foot polydactyly (HP:0001830)1.95706986
59Astigmatism (HP:0000483)1.95650360
60Neoplasm of the adrenal cortex (HP:0100641)1.95285896
61Ependymoma (HP:0002888)1.92952504
62Hypoplastic pelvis (HP:0008839)1.92096252
63Congenital primary aphakia (HP:0007707)1.91792599
64Tented upper lip vermilion (HP:0010804)1.90367498
65Congenital sensorineural hearing impairment (HP:0008527)1.90262357
66Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.89518787
67Short 1st metacarpal (HP:0010034)1.89518787
68Abnormality of the preputium (HP:0100587)1.88502451
69Abnormality of the duodenum (HP:0002246)1.87984320
70Small intestinal stenosis (HP:0012848)1.86873485
71Duodenal stenosis (HP:0100867)1.86873485
72Congenital hepatic fibrosis (HP:0002612)1.86680187
73Abnormality of the renal cortex (HP:0011035)1.85789351
74Gastrointestinal atresia (HP:0002589)1.85425086
75Septo-optic dysplasia (HP:0100842)1.83962269
76Aplasia/Hypoplasia of the sternum (HP:0006714)1.82981638
77Decreased central vision (HP:0007663)1.82637766
78Oligodactyly (HP:0012165)1.82393564
79Short tibia (HP:0005736)1.82291809
80Abnormality of the phalanges of the 2nd finger (HP:0009541)1.82272836
81Methylmalonic acidemia (HP:0002912)1.81700286
82Stenosis of the external auditory canal (HP:0000402)1.81695732
83Colon cancer (HP:0003003)1.80691876
84Abnormality of the carotid arteries (HP:0005344)1.80656044
85Aqueductal stenosis (HP:0002410)1.79356759
86Broad-based gait (HP:0002136)1.76997453
87Nephrogenic diabetes insipidus (HP:0009806)1.76723611
88Intellectual disability, moderate (HP:0002342)1.76281233
89Clubbing of toes (HP:0100760)1.75339315
90Dandy-Walker malformation (HP:0001305)1.75018905
91Megalencephaly (HP:0001355)1.74182957
92Abnormality of the ischium (HP:0003174)1.73384071
93Male pseudohermaphroditism (HP:0000037)1.72548392
94Hypothermia (HP:0002045)1.72248026
95Bifid tongue (HP:0010297)1.71317330
96Hypoplastic iliac wings (HP:0002866)1.70557889
97Long clavicles (HP:0000890)1.69885324
98Narrow forehead (HP:0000341)1.69647765
99Furrowed tongue (HP:0000221)1.69615039
100Excessive salivation (HP:0003781)1.68369511

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.67311771
2CASK2.97200166
3WNK32.80394019
4TNIK2.80326438
5TRIM282.75508044
6BMPR1B2.69409746
7MAPK132.29157932
8MKNK22.14315203
9NUAK12.04823247
10INSRR2.02493548
11BUB11.99543681
12PNCK1.99122829
13MARK11.97081911
14ACVR1B1.88861462
15PLK21.85603245
16BRSK21.78297068
17WEE11.77428894
18EIF2AK31.75363507
19MAP4K21.55842524
20BCR1.53044741
21PLK31.50122913
22ERBB31.49770862
23STK391.46643736
24EPHA41.44818551
25CCNB11.44617088
26PLK41.37204390
27TIE11.36915563
28GRK11.36660750
29TAF11.35843666
30PAK31.25536514
31FGFR21.25116878
32MKNK11.20838494
33ADRBK21.19495568
34NTRK31.19332289
35NEK11.17824818
36NTRK21.15415732
37ZAK1.13977472
38MINK11.07315494
39CSNK1G11.04294991
40STK38L1.03760650
41CSNK1G21.00331761
42MAP3K41.00104924
43OXSR10.99074039
44FER0.91471046
45SIK30.90484619
46SGK20.89959945
47PKN10.89565665
48PLK10.87503831
49PRKCE0.86471328
50TTK0.84557849
51CDC70.83724619
52PAK60.80066936
53BRSK10.79635167
54CSNK1A1L0.76239377
55PRKCG0.75016382
56CSNK1G30.74890669
57DYRK20.74456937
58EIF2AK10.74002102
59PRKD30.72568148
60TGFBR10.72475476
61VRK10.72170158
62PINK10.67105120
63AKT30.65465030
64TSSK60.64954155
65STK30.63287004
66NLK0.59953637
67DAPK20.57715876
68SGK4940.57555883
69SGK2230.57555883
70MARK30.56999750
71ADRBK10.55459139
72CAMKK20.53933465
73CAMK2A0.53358081
74NEK20.52518137
75EIF2AK20.51831313
76CDK30.51739949
77ATM0.51060759
78WNK40.49819617
79MST40.49599495
80PTK2B0.49566357
81BRD40.49073289
82PBK0.48729303
83EPHB20.47034677
84MAP2K70.45370606
85KSR10.45330578
86ROCK10.44775766
87FGFR10.44291927
88GRK50.44191969
89UHMK10.43216913
90ATR0.42500730
91SGK30.41617087
92YES10.37588757
93MUSK0.36152924
94MELK0.35283868
95ERBB40.34863925
96GSK3A0.33849471
97DYRK1A0.33750344
98CHEK20.33418751
99MAPKAPK50.32636247
100CSNK1D0.32251235

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.21767914
2Fanconi anemia pathway_Homo sapiens_hsa034602.83029609
3Homologous recombination_Homo sapiens_hsa034402.81139643
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.44979183
5Phototransduction_Homo sapiens_hsa047442.37964940
6Protein export_Homo sapiens_hsa030602.27961969
7Non-homologous end-joining_Homo sapiens_hsa034502.13087067
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.11208338
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.95659067
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.87970605
11Glutamatergic synapse_Homo sapiens_hsa047241.86074474
12Steroid biosynthesis_Homo sapiens_hsa001001.81231807
13Butanoate metabolism_Homo sapiens_hsa006501.73598948
14Circadian entrainment_Homo sapiens_hsa047131.70669556
15Morphine addiction_Homo sapiens_hsa050321.69964746
16Propanoate metabolism_Homo sapiens_hsa006401.69008450
17GABAergic synapse_Homo sapiens_hsa047271.67543840
18Basal transcription factors_Homo sapiens_hsa030221.66982429
19Taste transduction_Homo sapiens_hsa047421.64309086
20Hedgehog signaling pathway_Homo sapiens_hsa043401.59857624
21Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.57487461
22Nitrogen metabolism_Homo sapiens_hsa009101.53267914
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.50819262
24Basal cell carcinoma_Homo sapiens_hsa052171.44589759
25Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.44412345
26Maturity onset diabetes of the young_Homo sapiens_hsa049501.35851717
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.35012789
28Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.33301011
29Oocyte meiosis_Homo sapiens_hsa041141.32945644
30Dopaminergic synapse_Homo sapiens_hsa047281.32171675
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.30252452
32Selenocompound metabolism_Homo sapiens_hsa004501.30056464
33Hippo signaling pathway_Homo sapiens_hsa043901.27988649
34Insulin secretion_Homo sapiens_hsa049111.25002642
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.20649156
36RNA degradation_Homo sapiens_hsa030181.13342113
37Amphetamine addiction_Homo sapiens_hsa050311.10195583
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09055523
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.06799722
40Olfactory transduction_Homo sapiens_hsa047401.06114274
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05149109
42Cocaine addiction_Homo sapiens_hsa050301.04207882
43Dorso-ventral axis formation_Homo sapiens_hsa043201.03155896
44Serotonergic synapse_Homo sapiens_hsa047261.02069748
45TGF-beta signaling pathway_Homo sapiens_hsa043501.01761650
46Wnt signaling pathway_Homo sapiens_hsa043100.99303205
47Cell cycle_Homo sapiens_hsa041100.98248107
48Axon guidance_Homo sapiens_hsa043600.97731578
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.97293327
50Tryptophan metabolism_Homo sapiens_hsa003800.91466530
51Circadian rhythm_Homo sapiens_hsa047100.90609706
52Calcium signaling pathway_Homo sapiens_hsa040200.90244720
53Salivary secretion_Homo sapiens_hsa049700.88330000
54Ether lipid metabolism_Homo sapiens_hsa005650.88251961
55Regulation of autophagy_Homo sapiens_hsa041400.88231499
56Long-term depression_Homo sapiens_hsa047300.82565944
57Fatty acid elongation_Homo sapiens_hsa000620.82119843
58Melanoma_Homo sapiens_hsa052180.80052914
59Renin secretion_Homo sapiens_hsa049240.79856234
60cAMP signaling pathway_Homo sapiens_hsa040240.79625831
61Lysine degradation_Homo sapiens_hsa003100.79152366
62Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78173121
63Mismatch repair_Homo sapiens_hsa034300.75907309
64Cholinergic synapse_Homo sapiens_hsa047250.73772920
65Fatty acid metabolism_Homo sapiens_hsa012120.70227656
66p53 signaling pathway_Homo sapiens_hsa041150.67760715
67Gastric acid secretion_Homo sapiens_hsa049710.67712303
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66954678
69Linoleic acid metabolism_Homo sapiens_hsa005910.66883927
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64949908
71beta-Alanine metabolism_Homo sapiens_hsa004100.63517591
72Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62628925
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60254572
74Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59224590
75RNA polymerase_Homo sapiens_hsa030200.58265867
76Nucleotide excision repair_Homo sapiens_hsa034200.58058338
77Melanogenesis_Homo sapiens_hsa049160.57067092
78MicroRNAs in cancer_Homo sapiens_hsa052060.56623595
79Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.56305872
80Oxytocin signaling pathway_Homo sapiens_hsa049210.56278062
81Gap junction_Homo sapiens_hsa045400.55142793
82Retinol metabolism_Homo sapiens_hsa008300.53259483
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.51745058
84Chemical carcinogenesis_Homo sapiens_hsa052040.51021967
85Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.50022380
86Vitamin B6 metabolism_Homo sapiens_hsa007500.50012944
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49233489
88Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.49015359
89Glycerolipid metabolism_Homo sapiens_hsa005610.47303234
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.46521458
91Ovarian steroidogenesis_Homo sapiens_hsa049130.44435123
92Collecting duct acid secretion_Homo sapiens_hsa049660.42879566
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42864779
94Primary bile acid biosynthesis_Homo sapiens_hsa001200.42008651
95Ras signaling pathway_Homo sapiens_hsa040140.41393043
96Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38932567
97Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37145379
98Peroxisome_Homo sapiens_hsa041460.36470138
99Alcoholism_Homo sapiens_hsa050340.36270365
100Rap1 signaling pathway_Homo sapiens_hsa040150.34947133

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