SPAM1

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: Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* cell-cell recognition (GO:0009988)9.82856305
2epithelial cilium movement (GO:0003351)9.73116112
3* plasma membrane fusion (GO:0045026)9.71202575
4axonemal dynein complex assembly (GO:0070286)9.65937650
5* reproduction (GO:0000003)9.62013176
6* binding of sperm to zona pellucida (GO:0007339)9.59645881
7motile cilium assembly (GO:0044458)8.97620649
8spermatid development (GO:0007286)8.79307685
9piRNA metabolic process (GO:0034587)8.54093911
10male meiosis (GO:0007140)8.15411414
11cilium movement (GO:0003341)8.04493314
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.67862735
13* single fertilization (GO:0007338)7.54052483
14regulation of cilium movement (GO:0003352)7.41227338
15synaptonemal complex assembly (GO:0007130)7.17808870
16synaptonemal complex organization (GO:0070193)7.17643621
17sperm capacitation (GO:0048240)6.77073967
18* fertilization (GO:0009566)6.44467437
19microtubule depolymerization (GO:0007019)6.44137856
20spermatogenesis (GO:0007283)6.16872300
21male gamete generation (GO:0048232)6.14808766
22gamete generation (GO:0007276)5.79852458
23DNA methylation involved in gamete generation (GO:0043046)5.57264364
24negative regulation of inclusion body assembly (GO:0090084)5.39399913
25* cellular process involved in reproduction in multicellular organism (GO:0022412)5.14816156
26organic cation transport (GO:0015695)5.11374361
27germ cell development (GO:0007281)5.11046406
28male meiosis I (GO:0007141)5.05952094
29microtubule severing (GO:0051013)5.04086257
30chromosome organization involved in meiosis (GO:0070192)5.03088212
31calcium ion-dependent exocytosis (GO:0017156)4.90832346
32spermatid nucleus differentiation (GO:0007289)4.89229662
33monoubiquitinated protein deubiquitination (GO:0035520)4.86709843
34ventricular system development (GO:0021591)4.80949375
35meiotic nuclear division (GO:0007126)4.75556978
36* cell recognition (GO:0008037)4.66928973
37regulation of inclusion body assembly (GO:0090083)4.57731583
38multicellular organismal reproductive process (GO:0048609)4.56296439
39glycerol ether metabolic process (GO:0006662)4.33173994
40meiotic cell cycle (GO:0051321)4.29670991
41regulation of microtubule-based movement (GO:0060632)4.24949038
42meiosis I (GO:0007127)4.13958557
43seminiferous tubule development (GO:0072520)4.09047260
44ether metabolic process (GO:0018904)3.99717222
45chromosome condensation (GO:0030261)3.92721337
46centriole assembly (GO:0098534)3.66606500
47protein K11-linked deubiquitination (GO:0035871)3.66202789
48microtubule polymerization or depolymerization (GO:0031109)3.66085274
49DNA packaging (GO:0006323)3.61967352
50centriole replication (GO:0007099)3.60288429
51single strand break repair (GO:0000012)3.60135317
52protein polyglutamylation (GO:0018095)3.56553055
53multicellular organismal development (GO:0007275)3.54729920
54genitalia morphogenesis (GO:0035112)3.53330472
55chaperone-mediated protein complex assembly (GO:0051131)3.39069180
56left/right pattern formation (GO:0060972)3.38330397
57regulation of spindle checkpoint (GO:0090231)3.29083708
58meiotic cell cycle process (GO:1903046)3.27449749
59gene silencing by RNA (GO:0031047)3.26007032
60protein localization to cilium (GO:0061512)3.20741056
61sequestering of actin monomers (GO:0042989)3.15150356
62regulation of centriole replication (GO:0046599)3.14764645
63mitotic sister chromatid cohesion (GO:0007064)3.09938728
64polyol catabolic process (GO:0046174)3.05420359
65regulation of meiosis I (GO:0060631)3.03682451
66cilium organization (GO:0044782)3.02476895
67alditol metabolic process (GO:0019400)3.01858744
68lactate metabolic process (GO:0006089)2.98657105
69synapsis (GO:0007129)2.97306500
70cilium morphogenesis (GO:0060271)2.95219683
71cilium assembly (GO:0042384)2.93197489
72intraciliary transport (GO:0042073)2.91433265
73microtubule-based movement (GO:0007018)2.91082294
74cellular component assembly involved in morphogenesis (GO:0010927)2.88248429
75sexual reproduction (GO:0019953)2.85619882
76histone exchange (GO:0043486)2.81840479
77carnitine transport (GO:0015879)2.79827348
78amino-acid betaine transport (GO:0015838)2.79827348
79nucleoside diphosphate phosphorylation (GO:0006165)2.79102739
80negative regulation of organelle assembly (GO:1902116)2.78702590
81nucleus organization (GO:0006997)2.77743797
82sister chromatid cohesion (GO:0007062)2.76326859
83glycerol metabolic process (GO:0006071)2.73240538
84GTP biosynthetic process (GO:0006183)2.70178334
85protein localization to chromosome, centromeric region (GO:0071459)2.69615979
86glycolytic process (GO:0006096)2.66912052
87carnitine transmembrane transport (GO:1902603)2.64608559
88axoneme assembly (GO:0035082)2.63538995
89nuclear pore complex assembly (GO:0051292)2.59597773
90regulation of acrosome reaction (GO:0060046)2.51865137
91regulation of cilium assembly (GO:1902017)2.51544930
92cell wall macromolecule catabolic process (GO:0016998)13.9706048
93cell wall macromolecule metabolic process (GO:0044036)13.9706048
94* fusion of sperm to egg plasma membrane (GO:0007342)13.1229794
95acrosome assembly (GO:0001675)12.0937067
96sperm motility (GO:0030317)12.0432553
97* multicellular organism reproduction (GO:0032504)11.6493116
98* sperm-egg recognition (GO:0035036)11.0368152
99cilium or flagellum-dependent cell motility (GO:0001539)10.7000732
100acrosome reaction (GO:0007340)10.1776056

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.13001371
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.82999403
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.51719777
4EZH2_22144423_ChIP-Seq_EOC_Human3.42804262
5FLI1_27457419_Chip-Seq_LIVER_Mouse2.81851904
6PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.81691474
7STAT6_21828071_ChIP-Seq_BEAS2B_Human2.54071575
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.49712645
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.45277431
10PCGF2_27294783_Chip-Seq_ESCs_Mouse2.41540727
11KAP1_22055183_ChIP-Seq_ESCs_Mouse2.37455444
12KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse2.08448927
13CBX2_27304074_Chip-Seq_ESCs_Mouse2.03844663
14VDR_22108803_ChIP-Seq_LS180_Human1.98286056
15CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.96600635
16GATA1_26923725_Chip-Seq_HPCs_Mouse1.96455292
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.95940708
18CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.93003619
19TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.91034189
20EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.90242557
21ZNF274_21170338_ChIP-Seq_K562_Hela1.88217906
22RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.86635781
23STAT1_17558387_ChIP-Seq_HELA_Human1.82171446
24KDM2B_26808549_Chip-Seq_REH_Human1.72360970
25MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.69651487
26ELK4_26923725_Chip-Seq_MESODERM_Mouse1.69629206
27NFE2_27457419_Chip-Seq_LIVER_Mouse1.68185524
28SUZ12_27294783_Chip-Seq_NPCs_Mouse1.68074143
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.65057660
30PCGF2_27294783_Chip-Seq_NPCs_Mouse1.65037983
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.63154969
32GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.61998517
33* TAL1_26923725_Chip-Seq_HPCs_Mouse1.61855002
34TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.60915792
35NANOG_18555785_Chip-Seq_ESCs_Mouse1.48219966
36WDR5_24793694_ChIP-Seq_LNCAP_Human1.45207796
37FLI1_21867929_ChIP-Seq_TH2_Mouse1.43967726
38RNF2_27304074_Chip-Seq_NSC_Mouse1.43846457
39MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41704598
40FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41036729
41EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.39934077
42GATA3_21867929_ChIP-Seq_TH1_Mouse1.39548139
43CRX_20693478_ChIP-Seq_RETINA_Mouse1.38787817
44GATA3_21867929_ChIP-Seq_CD8_Mouse1.37607309
45CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37010844
46ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.34648224
47EZH2_27294783_Chip-Seq_NPCs_Mouse1.32587534
48SOX2_22085726_ChIP-Seq_NPCs_Mouse1.32545827
49NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.31817396
50CBP_20019798_ChIP-Seq_JUKART_Human1.30700361
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.30700361
52CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30171236
53OCT4_18555785_Chip-Seq_ESCs_Mouse1.30136863
54CMYC_18555785_Chip-Seq_ESCs_Mouse1.28688996
55RUNX1_26923725_Chip-Seq_HPCs_Mouse1.26003880
56P53_22387025_ChIP-Seq_ESCs_Mouse1.25884860
57EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.23959805
58LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.23580398
59KLF4_18555785_Chip-Seq_ESCs_Mouse1.23492128
60P300_18555785_Chip-Seq_ESCs_Mouse1.21555909
61TAF15_26573619_Chip-Seq_HEK293_Human1.21522701
62CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.20240068
63GF1_26923725_Chip-Seq_HPCs_Mouse1.19943200
64SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.18604459
65TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17093530
66ESRRB_18555785_Chip-Seq_ESCs_Mouse1.16755810
67SUZ12_18555785_Chip-Seq_ESCs_Mouse1.15546877
68STAT3_18555785_Chip-Seq_ESCs_Mouse1.15377298
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15232582
70TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15232582
71OCT4_21477851_ChIP-Seq_ESCs_Mouse1.14604058
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.14218336
73SOX2_18555785_Chip-Seq_ESCs_Mouse1.11234059
74P53_21459846_ChIP-Seq_SAOS-2_Human1.09076165
75CTCF_18555785_Chip-Seq_ESCs_Mouse1.07849679
76GF1B_26923725_Chip-Seq_HPCs_Mouse1.06915615
77FUS_26573619_Chip-Seq_HEK293_Human1.06212064
78CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04974178
79ESET_19884257_ChIP-Seq_ESCs_Mouse1.03396949
80REST_21632747_ChIP-Seq_MESCs_Mouse1.01660057
81NMYC_18555785_Chip-Seq_ESCs_Mouse1.01158366
82ERG_20517297_ChIP-Seq_VCAP_Human1.01017210
83E2F1_18555785_Chip-Seq_ESCs_Mouse1.00545412
84RUNX1_27457419_Chip-Seq_LIVER_Mouse1.00510017
85FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99149230
86PU1_27457419_Chip-Seq_LIVER_Mouse0.98367130
87SOX9_26525672_Chip-Seq_HEART_Mouse0.97989310
88SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97625492
89SMAD1_18555785_Chip-Seq_ESCs_Mouse0.97363814
90ZFX_18555785_Chip-Seq_ESCs_Mouse0.96624828
91PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96153447
92AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96146500
93SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96076375
94SPI1_26923725_Chip-Seq_HPCs_Mouse0.95754862
95PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.94667061
96STAT3_18555785_ChIP-Seq_MESCs_Mouse0.91814351
97NFYB_21822215_ChIP-Seq_K562_Human0.91046730
98CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89656156
99LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89633357
100SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.87414457

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0003698_abnormal_male_reproductive5.90603098
2MP0001929_abnormal_gametogenesis5.87387826
3MP0008877_abnormal_DNA_methylation5.35771812
4MP0002210_abnormal_sex_determination3.88650674
5MP0002653_abnormal_ependyma_morphology3.50330089
6MP0002161_abnormal_fertility/fecundity3.49876048
7MP0001145_abnormal_male_reproductive3.22897895
8MP0000653_abnormal_sex_gland3.08619482
9MP0003646_muscle_fatigue2.25970856
10MP0005670_abnormal_white_adipose2.19548904
11* MP0005410_abnormal_fertilization14.4784032
12MP0002102_abnormal_ear_morphology1.93646251
13MP0004233_abnormal_muscle_weight1.65848829
14MP0002160_abnormal_reproductive_system1.61860285
15MP0010094_abnormal_chromosome_stability1.56284642
16MP0005623_abnormal_meninges_morphology1.45931433
17MP0008058_abnormal_DNA_repair1.37677343
18MP0002282_abnormal_trachea_morphology1.35631087
19MP0005451_abnormal_body_composition1.32858510
20MP0005647_abnormal_sex_gland1.27696643
21MP0003718_maternal_effect1.21596262
22MP0003699_abnormal_female_reproductive1.18771067
23MP0008057_abnormal_DNA_replication1.14764492
24MP0001765_abnormal_ion_homeostasis1.11948040
25MP0001119_abnormal_female_reproductive1.11483864
26MP0005389_reproductive_system_phenotype1.02256735
27MP0003111_abnormal_nucleus_morphology0.97816777
28MP0001984_abnormal_olfaction0.90418223
29MP0008995_early_reproductive_senescence0.90380726
30MP0009046_muscle_twitch0.90361329
31MP0003950_abnormal_plasma_membrane0.85981049
32MP0003077_abnormal_cell_cycle0.82277892
33MP0003011_delayed_dark_adaptation0.69370782
34MP0008007_abnormal_cellular_replicative0.67478714
35MP0002234_abnormal_pharynx_morphology0.62709794
36MP0003787_abnormal_imprinting0.60027831
37MP0003786_premature_aging0.55935881
38MP0005636_abnormal_mineral_homeostasis0.53638851
39MP0001730_embryonic_growth_arrest0.52855410
40MP0005395_other_phenotype0.52621020
41MP0003693_abnormal_embryo_hatching0.51115814
42MP0002928_abnormal_bile_duct0.49239304
43MP0004036_abnormal_muscle_relaxation0.48491016
44MP0001529_abnormal_vocalization0.46045217
45MP0006072_abnormal_retinal_apoptosis0.44803795
46MP0005551_abnormal_eye_electrophysiolog0.44486007
47MP0002269_muscular_atrophy0.43528997
48MP0010307_abnormal_tumor_latency0.41899279
49MP0004957_abnormal_blastocyst_morpholog0.41771486
50MP0003115_abnormal_respiratory_system0.41711814
51MP0000462_abnormal_digestive_system0.40208213
52MP0002084_abnormal_developmental_patter0.38502515
53MP0005253_abnormal_eye_physiology0.38359183
54MP0008932_abnormal_embryonic_tissue0.37075710
55MP0004145_abnormal_muscle_electrophysio0.37050351
56MP0002085_abnormal_embryonic_tissue0.36995588
57MP0002139_abnormal_hepatobiliary_system0.36782555
58MP0003861_abnormal_nervous_system0.36603754
59MP0001697_abnormal_embryo_size0.35691069
60MP0000358_abnormal_cell_content/0.35597738
61MP0005666_abnormal_adipose_tissue0.35262680
62MP0001324_abnormal_eye_pigmentation0.34939957
63MP0000579_abnormal_nail_morphology0.33941234
64MP0005646_abnormal_pituitary_gland0.33323376
65MP0005397_hematopoietic_system_phenotyp0.31881263
66MP0001545_abnormal_hematopoietic_system0.31881263
67MP0003329_amyloid_beta_deposits0.31860290
68MP0003937_abnormal_limbs/digits/tail_de0.31233888
69MP0001919_abnormal_reproductive_system0.30837805
70MP0002971_abnormal_brown_adipose0.30427061
71MP0002736_abnormal_nociception_after0.30033430
72MP0001672_abnormal_embryogenesis/_devel0.28385164
73MP0005380_embryogenesis_phenotype0.28385164
74MP0000427_abnormal_hair_cycle0.28260259
75MP0000313_abnormal_cell_death0.28112771
76MP0000432_abnormal_head_morphology0.27781725
77MP0000569_abnormal_digit_pigmentation0.26732049
78MP0005408_hypopigmentation0.26630276
79MP0005391_vision/eye_phenotype0.26598611
80MP0009115_abnormal_fat_cell0.25687615
81MP0001293_anophthalmia0.25387709
82MP0004270_analgesia0.24261103
83MP0000639_abnormal_adrenal_gland0.23943998
84MP0002152_abnormal_brain_morphology0.23716738
85MP0006036_abnormal_mitochondrial_physio0.23605928
86MP0009697_abnormal_copulation0.22658340
87MP0005377_hearing/vestibular/ear_phenot0.21730050
88MP0003878_abnormal_ear_physiology0.21730050
89MP0002295_abnormal_pulmonary_circulatio0.21464350
90MP0000534_abnormal_ureter_morphology0.20439510
91MP0005195_abnormal_posterior_eye0.20344464
92MP0004133_heterotaxia0.20150132
93MP0002169_no_abnormal_phenotype0.19992833
94MP0002873_normal_phenotype0.19803455
95MP0009250_abnormal_appendicular_skeleto0.19581144
96MP0001851_eye_inflammation0.19498461
97MP0004019_abnormal_vitamin_homeostasis0.19464500
98MP0002109_abnormal_limb_morphology0.18516412
99MP0005187_abnormal_penis_morphology0.18350104
100MP0003315_abnormal_perineum_morphology0.18314907

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.47980165
2Abnormal respiratory motile cilium morphology (HP:0005938)8.78753119
3Abnormal respiratory epithelium morphology (HP:0012253)8.78753119
4Abnormal ciliary motility (HP:0012262)7.75223109
5Rhinitis (HP:0012384)7.59957723
6Chronic bronchitis (HP:0004469)7.59704081
7Infertility (HP:0000789)6.52520121
8Nasal polyposis (HP:0100582)5.86888828
9Male infertility (HP:0003251)5.21393291
10Abnormality of the nasal mucosa (HP:0000433)4.77765894
11Bronchiectasis (HP:0002110)4.43478915
12Bronchitis (HP:0012387)4.37109228
13Nephronophthisis (HP:0000090)4.34771014
14Recurrent sinusitis (HP:0011108)3.54888655
15Abnormal spermatogenesis (HP:0008669)3.44945018
16Abnormality of the renal medulla (HP:0100957)3.32481356
17Medial flaring of the eyebrow (HP:0010747)3.15052836
18Recurrent otitis media (HP:0000403)3.13699964
19Molar tooth sign on MRI (HP:0002419)2.92557749
20Abnormality of midbrain morphology (HP:0002418)2.92557749
21Tubulointerstitial nephritis (HP:0001970)2.60690485
22Azoospermia (HP:0000027)2.54655101
23Gait imbalance (HP:0002141)2.27974904
24Tubular atrophy (HP:0000092)2.27493899
25Congenital primary aphakia (HP:0007707)2.26770939
26Impulsivity (HP:0100710)2.23163355
27Recurrent bronchitis (HP:0002837)2.22045992
28Tubulointerstitial abnormality (HP:0001969)2.18140313
29Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.5493861
30Dynein arm defect of respiratory motile cilia (HP:0012255)12.8537054
31Absent/shortened dynein arms (HP:0200106)12.8537054
32Nephrogenic diabetes insipidus (HP:0009806)1.95512822
33Pancreatic fibrosis (HP:0100732)1.94149538
34Gonadotropin excess (HP:0000837)1.91645739
35Postaxial foot polydactyly (HP:0001830)1.89369733
36Genital tract atresia (HP:0001827)1.85762589
37Vaginal atresia (HP:0000148)1.83265764
38Abnormal gallbladder physiology (HP:0012438)1.82873296
39Cholecystitis (HP:0001082)1.82873296
40Stage 5 chronic kidney disease (HP:0003774)1.82459175
41Poor coordination (HP:0002370)1.80830364
42Supernumerary spleens (HP:0009799)1.73833272
43Microglossia (HP:0000171)1.73789167
44Aplasia/Hypoplasia of the lens (HP:0008063)1.71649905
45Congenital hepatic fibrosis (HP:0002612)1.71230867
46Papillary thyroid carcinoma (HP:0002895)1.70157572
47Tubulointerstitial fibrosis (HP:0005576)1.70129728
48Postaxial hand polydactyly (HP:0001162)1.66687838
49Aplasia/Hypoplasia of the tongue (HP:0010295)1.65857264
50Hypoplasia of the capital femoral epiphysis (HP:0003090)1.62427649
51Abnormality of the renal cortex (HP:0011035)1.61183827
52Abnormality of permanent molar morphology (HP:0011071)1.60949032
53Abnormality of the dental root (HP:0006486)1.60949032
54Taurodontia (HP:0000679)1.60949032
55Cystic liver disease (HP:0006706)1.60456612
56Heterotopia (HP:0002282)1.59117234
57Abnormal biliary tract physiology (HP:0012439)1.58630815
58Bile duct proliferation (HP:0001408)1.58630815
59Tongue fasciculations (HP:0001308)1.52604248
60True hermaphroditism (HP:0010459)1.50959207
61Abnormality of molar (HP:0011077)1.48842871
62Abnormality of molar morphology (HP:0011070)1.48842871
63Oculomotor apraxia (HP:0000657)1.48044355
64Short ribs (HP:0000773)1.47563874
65Abnormality of the dental pulp (HP:0006479)1.46636273
66Abnormal drinking behavior (HP:0030082)1.44998810
67Polydipsia (HP:0001959)1.44998810
68Chronic sinusitis (HP:0011109)1.44111031
69Renal dysplasia (HP:0000110)1.43853735
70Fibular hypoplasia (HP:0003038)1.43130729
71Abnormality of renal excretion (HP:0011036)1.43084472
72Decreased central vision (HP:0007663)1.42959340
73Spastic tetraparesis (HP:0001285)1.42834441
74Pancreatic cysts (HP:0001737)1.42194261
75Dyschromatopsia (HP:0007641)1.41207034
76Muscle fibrillation (HP:0010546)1.38066759
77Abnormality of dentin (HP:0010299)1.33661530
78Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.33012436
79Abnormality of the lower motor neuron (HP:0002366)1.32788177
80Facial cleft (HP:0002006)1.32624712
81Asymmetric septal hypertrophy (HP:0001670)1.30467556
82Absent frontal sinuses (HP:0002688)1.29648062
83Chronic hepatic failure (HP:0100626)1.26979084
84Absent epiphyses (HP:0010577)1.25376859
85Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.25376859
86Sloping forehead (HP:0000340)1.24453961
87Bundle branch block (HP:0011710)1.23276924
88Median cleft lip (HP:0000161)1.21025719
89Amyotrophic lateral sclerosis (HP:0007354)1.20593292
90Abnormality of the neuromuscular junction (HP:0003398)1.19633592
91Fatigable weakness (HP:0003473)1.19633592
92Nephroblastoma (Wilms tumor) (HP:0002667)1.19533858
93Abnormality of saccadic eye movements (HP:0000570)1.18752027
94Easy fatigability (HP:0003388)1.18406257
95Cerebellar dysplasia (HP:0007033)1.14474436
96Type 2 muscle fiber atrophy (HP:0003554)1.13398688
97Occipital encephalocele (HP:0002085)1.13206909
98Breast carcinoma (HP:0003002)1.11641189
99Broad foot (HP:0001769)1.11479594
100Optic nerve hypoplasia (HP:0000609)1.10292285

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK38.78425922
2PDK48.78425922
3PDK25.64863872
4TESK14.04199914
5PRKD33.97669287
6ICK2.69839355
7PTK2B1.96841462
8STK391.94490533
9WNK41.79765845
10NEK21.78205695
11PLK41.77310720
12PNCK1.56620947
13TTK1.53881922
14STK381.51404610
15STK38L1.36167010
16LATS11.29574645
17MUSK1.15981924
18STK31.15047770
19CHEK21.06318122
20MAP3K61.03406477
21TYRO31.01298672
22PDK10.99520600
23EEF2K0.95473398
24CDC70.92472374
25BRAF0.82327083
26DYRK1B0.77989448
27LATS20.75945722
28ERBB40.74293756
29DYRK30.69651296
30LMTK20.69589077
31MOS0.65773370
32TAOK30.61829345
33TESK20.61260770
34CCNB10.59709517
35PLK10.57365474
36CHEK10.55950947
37WNK10.53380844
38STK100.52733399
39IRAK10.52396888
40CDK120.52002071
41BMPR20.51763287
42WEE10.50064026
43PDPK10.44483371
44ATM0.43478417
45PASK0.42687316
46MAP2K70.42346937
47MAP3K40.41092797
48MAPKAPK50.40189923
49BRSK20.39531311
50TAOK10.38361277
51MAP2K60.38286996
52PINK10.37703806
53PAK10.37196170
54MAPK150.36225365
55PAK60.35792260
56PRKAA10.34860647
57ATR0.33684892
58DYRK20.33566004
59KSR20.33059060
60MELK0.30913263
61MARK20.30548636
62NTRK20.30246381
63MAP3K90.24847036
64MAPKAPK30.21824966
65CAMK1G0.20201511
66CDK150.18813178
67NEK60.18810466
68AURKA0.18488595
69CDK90.17625966
70PKN10.16380345
71CSNK1D0.16096665
72BRSK10.15892962
73CDK180.15608078
74AURKB0.14346537
75MAP3K50.14143942
76MTOR0.13872000
77CDK30.13818798
78CDK11A0.13159811
79PRKG20.13052458
80CDK10.12230173
81CAMK2A0.12159337
82PAK20.11834953
83MAP3K80.10853569
84PRKG10.10055552
85CDK20.09241786
86CDK140.07770655
87BUB10.07463884
88RPS6KB10.06396528
89IRAK20.06341449
90PRKCG0.06215181
91RIPK40.06211781
92GSK3B0.05658656
93PRKCQ0.04238676
94CDK40.04158140
95PRKAA20.02789228
96CSNK2A10.02618661
97BMPR1B0.02437849
98MAPK130.01491064
99STK11-0.0069373
100RAF1-0.0034062

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.34590978
2Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.01740248
3Basal transcription factors_Homo sapiens_hsa030223.72146683
4Pyruvate metabolism_Homo sapiens_hsa006203.71570127
5Fatty acid biosynthesis_Homo sapiens_hsa000613.37414780
6Propanoate metabolism_Homo sapiens_hsa006403.08170592
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.04943569
8Linoleic acid metabolism_Homo sapiens_hsa005913.00519360
9Fanconi anemia pathway_Homo sapiens_hsa034602.69796718
10Oocyte meiosis_Homo sapiens_hsa041142.54951049
11Glucagon signaling pathway_Homo sapiens_hsa049222.52785844
12Pentose phosphate pathway_Homo sapiens_hsa000302.27698920
13Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.94416544
14Selenocompound metabolism_Homo sapiens_hsa004501.87330447
15Dorso-ventral axis formation_Homo sapiens_hsa043201.81327220
16Glycerolipid metabolism_Homo sapiens_hsa005611.80291224
17Cysteine and methionine metabolism_Homo sapiens_hsa002701.80276777
18Ether lipid metabolism_Homo sapiens_hsa005651.74129848
19Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.60725664
20PPAR signaling pathway_Homo sapiens_hsa033201.59377687
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.57536418
22Glycerophospholipid metabolism_Homo sapiens_hsa005641.50790777
23Carbohydrate digestion and absorption_Homo sapiens_hsa049731.50037291
24Cell cycle_Homo sapiens_hsa041101.47631257
25RNA transport_Homo sapiens_hsa030131.44528233
26mRNA surveillance pathway_Homo sapiens_hsa030151.30032496
27Purine metabolism_Homo sapiens_hsa002301.22682443
28Amphetamine addiction_Homo sapiens_hsa050311.21365507
29Ovarian steroidogenesis_Homo sapiens_hsa049131.19458718
30Huntingtons disease_Homo sapiens_hsa050161.17544973
31RNA degradation_Homo sapiens_hsa030181.16643404
32Mineral absorption_Homo sapiens_hsa049781.16152863
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.13460466
34Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.10863465
35Carbon metabolism_Homo sapiens_hsa012001.08775853
36Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.07592016
37Biosynthesis of amino acids_Homo sapiens_hsa012300.97945698
38Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.91648563
39Renin secretion_Homo sapiens_hsa049240.90397522
40Cardiac muscle contraction_Homo sapiens_hsa042600.89473574
41Homologous recombination_Homo sapiens_hsa034400.84706484
42Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.83565629
43Glutathione metabolism_Homo sapiens_hsa004800.82727167
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81556462
45Fructose and mannose metabolism_Homo sapiens_hsa000510.78928162
46Arachidonic acid metabolism_Homo sapiens_hsa005900.76717702
47Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.75483850
48Inositol phosphate metabolism_Homo sapiens_hsa005620.71384919
49Fatty acid metabolism_Homo sapiens_hsa012120.69031099
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68899169
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.68113221
52Hedgehog signaling pathway_Homo sapiens_hsa043400.67442219
53Fatty acid degradation_Homo sapiens_hsa000710.65926649
54Collecting duct acid secretion_Homo sapiens_hsa049660.65484236
55Fat digestion and absorption_Homo sapiens_hsa049750.65092696
56Estrogen signaling pathway_Homo sapiens_hsa049150.64907095
57Renin-angiotensin system_Homo sapiens_hsa046140.58121761
58Long-term potentiation_Homo sapiens_hsa047200.56301281
59Chemical carcinogenesis_Homo sapiens_hsa052040.55622316
60Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55598145
61VEGF signaling pathway_Homo sapiens_hsa043700.55056629
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54823674
63cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53794456
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.53371274
65Antigen processing and presentation_Homo sapiens_hsa046120.52729521
66Insulin secretion_Homo sapiens_hsa049110.50155867
67Calcium signaling pathway_Homo sapiens_hsa040200.42927359
68p53 signaling pathway_Homo sapiens_hsa041150.42917162
69Pyrimidine metabolism_Homo sapiens_hsa002400.42852293
70Bile secretion_Homo sapiens_hsa049760.41991504
71Thyroid hormone synthesis_Homo sapiens_hsa049180.40183955
72AMPK signaling pathway_Homo sapiens_hsa041520.35765491
73* Metabolic pathways_Homo sapiens_hsa011000.34530502
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.34513258
75cAMP signaling pathway_Homo sapiens_hsa040240.34212214
76Circadian rhythm_Homo sapiens_hsa047100.31870592
77Vascular smooth muscle contraction_Homo sapiens_hsa042700.31852500
78Non-homologous end-joining_Homo sapiens_hsa034500.30474945
79Endocytosis_Homo sapiens_hsa041440.30381608
80Protein digestion and absorption_Homo sapiens_hsa049740.30016491
81Central carbon metabolism in cancer_Homo sapiens_hsa052300.29453127
82N-Glycan biosynthesis_Homo sapiens_hsa005100.27439752
83Taste transduction_Homo sapiens_hsa047420.27421102
84Systemic lupus erythematosus_Homo sapiens_hsa053220.25758784
85Synaptic vesicle cycle_Homo sapiens_hsa047210.25326061
86Pancreatic secretion_Homo sapiens_hsa049720.24708023
87Wnt signaling pathway_Homo sapiens_hsa043100.24062716
88ABC transporters_Homo sapiens_hsa020100.23942627
89Base excision repair_Homo sapiens_hsa034100.23919478
90Steroid hormone biosynthesis_Homo sapiens_hsa001400.21705367
91DNA replication_Homo sapiens_hsa030300.17162494
92Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.17036092
93Salivary secretion_Homo sapiens_hsa049700.16964480
94Glutamatergic synapse_Homo sapiens_hsa047240.16319997
95Viral carcinogenesis_Homo sapiens_hsa052030.15693245
96Retinol metabolism_Homo sapiens_hsa008300.14470264
97Nucleotide excision repair_Homo sapiens_hsa034200.13968786
98Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.12987994
99Gastric acid secretion_Homo sapiens_hsa049710.11882913
100Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.09332017

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