DAZ1

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 DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of necroptotic process (GO:0060546)9.65068046
2labyrinthine layer blood vessel development (GO:0060716)8.84655784
3regulation of macrophage activation (GO:0043030)8.79676356
4negative regulation of Notch signaling pathway (GO:0045746)8.49014562
5embryonic digestive tract morphogenesis (GO:0048557)8.39009360
6glandular epithelial cell differentiation (GO:0002067)8.21547208
7regulation of keratinocyte differentiation (GO:0045616)8.04816203
8negative regulation of necrotic cell death (GO:0060547)7.82501771
9calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)7.53416609
10negative regulation of epithelial to mesenchymal transition (GO:0010719)7.46108899
11regulation of necroptotic process (GO:0060544)7.38077017
12regulation of keratinocyte proliferation (GO:0010837)7.33385911
13trabecula formation (GO:0060343)7.20286368
14receptor guanylyl cyclase signaling pathway (GO:0007168)6.77637563
15regulation of digestive system process (GO:0044058)6.59691434
16cellular response to arsenic-containing substance (GO:0071243)6.05100814
17morphogenesis of embryonic epithelium (GO:0016331)5.91495206
18regulation of cell maturation (GO:1903429)5.71453822
19placenta blood vessel development (GO:0060674)5.59869593
20cellular response to cadmium ion (GO:0071276)5.45690705
21digestion (GO:0007586)5.44714599
22negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)5.38855249
23lung epithelial cell differentiation (GO:0060487)5.29688480
24regulation of necrotic cell death (GO:0010939)5.28814484
25lung cell differentiation (GO:0060479)5.06420379
26negative regulation of meiotic cell cycle (GO:0051447)5.06228037
27histone H2B ubiquitination (GO:0033523)4.98993188
28chemokine-mediated signaling pathway (GO:0070098)4.98172782
29negative regulation of DNA-templated transcription, elongation (GO:0032785)4.82425097
30negative regulation of epithelial cell differentiation (GO:0030857)4.81603430
31cGMP biosynthetic process (GO:0006182)4.69932114
32regulation of epidermal cell differentiation (GO:0045604)4.69843709
33neural crest cell migration (GO:0001755)4.58575374
34tight junction assembly (GO:0070830)4.57030924
35negative regulation of stem cell differentiation (GO:2000737)4.27101753
36mitochondrial calcium ion transport (GO:0006851)4.19898540
37polyketide metabolic process (GO:0030638)4.19652445
38doxorubicin metabolic process (GO:0044598)4.19652445
39daunorubicin metabolic process (GO:0044597)4.19652445
40retinal metabolic process (GO:0042574)4.05755890
41positive regulation of protein homooligomerization (GO:0032464)4.01670730
42protein autoprocessing (GO:0016540)3.87073360
43positive regulation of prostaglandin secretion (GO:0032308)3.74692424
44regulation of Notch signaling pathway (GO:0008593)3.71337398
45aminoglycoside antibiotic metabolic process (GO:0030647)3.69706976
46cellular aldehyde metabolic process (GO:0006081)3.63005326
47positive regulation of NF-kappaB import into nucleus (GO:0042346)3.56314312
48primary alcohol catabolic process (GO:0034310)3.53048133
49natural killer cell mediated immunity (GO:0002228)3.52270986
50natural killer cell mediated cytotoxicity (GO:0042267)3.52270986
51positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.45970581
52columnar/cuboidal epithelial cell differentiation (GO:0002065)3.29181551
53regulation of phospholipase A2 activity (GO:0032429)3.21396768
54GDP-mannose metabolic process (GO:0019673)3.18230149
55regulation of prostaglandin secretion (GO:0032306)3.13676762
56histone H2A ubiquitination (GO:0033522)3.07233880
57Golgi transport vesicle coating (GO:0048200)3.06914137
58COPI coating of Golgi vesicle (GO:0048205)3.06914137
59ethanol oxidation (GO:0006069)3.04788233
60regulation of epidermis development (GO:0045682)3.03914955
61protein retention in ER lumen (GO:0006621)2.96648745
62regulation of epithelial to mesenchymal transition (GO:0010717)2.90475992
63cGMP metabolic process (GO:0046068)2.89724234
64glycoside metabolic process (GO:0016137)2.81577612
65fucose catabolic process (GO:0019317)2.81553093
66L-fucose metabolic process (GO:0042354)2.81553093
67L-fucose catabolic process (GO:0042355)2.81553093
68positive regulation of protein oligomerization (GO:0032461)2.81231395
69negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.78687691
70regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 2.76138924
71negative regulation of fatty acid biosynthetic process (GO:0045717)2.72211811
72termination of RNA polymerase I transcription (GO:0006363)2.65707590
73cyclooxygenase pathway (GO:0019371)2.65514528
74positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.64385611
75response to arsenic-containing substance (GO:0046685)2.62174052
76maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.58969646
77calcium-mediated signaling (GO:0019722)2.58678520
78maintenance of gastrointestinal epithelium (GO:0030277)2.57902836
79barbed-end actin filament capping (GO:0051016)2.56473450
80transcription elongation from RNA polymerase I promoter (GO:0006362)2.55351648
81succinate metabolic process (GO:0006105)2.55315613
82behavioral defense response (GO:0002209)2.53961335
83behavioral fear response (GO:0001662)2.53961335
84heart looping (GO:0001947)2.53199743
85regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.52972243
86nucleoside diphosphate biosynthetic process (GO:0009133)2.49798073
87bone development (GO:0060348)2.49584615
88negative regulation of hormone metabolic process (GO:0032351)2.49199327
89potassium ion export (GO:0071435)2.47416887
90secretion by tissue (GO:0032941)2.47359935
91positive regulation of DNA repair (GO:0045739)2.45355700
92dendritic spine organization (GO:0097061)2.42905998
93nucleotide-sugar biosynthetic process (GO:0009226)2.42116925
94negative regulation of transcription by competitive promoter binding (GO:0010944)19.9150890
95negative regulation of digestive system process (GO:0060457)19.6338499
96negative regulation of epidermal cell differentiation (GO:0045605)14.7594757
97lung secretory cell differentiation (GO:0061140)12.3368852
98heart trabecula formation (GO:0060347)11.6239779
99negative regulation of epidermis development (GO:0045683)11.5584684
100morphogenesis of an epithelial fold (GO:0060571)11.3912702

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CDX2_20551321_ChIP-Seq_CACO-2_Human4.82069628
2ESR1_20079471_ChIP-ChIP_T-47D_Human4.69743747
3ZNF263_19887448_ChIP-Seq_K562_Human4.29533987
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.54307824
5SOX2_27498859_Chip-Seq_STOMACH_Mouse3.52240471
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.47155041
7STAT6_21828071_ChIP-Seq_BEAS2B_Human3.33267349
8TFAP2C_20629094_ChIP-Seq_MCF-7_Human3.12769500
9RXR_22158963_ChIP-Seq_LIVER_Mouse2.94070640
10ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse2.75903204
11KLF5_25053715_ChIP-Seq_YYC3_Human2.74338960
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.73100083
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.58903227
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.35830239
15GATA4_25053715_ChIP-Seq_YYC3_Human2.34933086
16ESR1_21235772_ChIP-Seq_MCF-7_Human2.31568944
17NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.23859291
18PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.19202422
19ZNF217_24962896_ChIP-Seq_MCF-7_Human2.16667699
20SOX2_20726797_ChIP-Seq_SW620_Human2.08512881
21EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.05154031
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.03073700
23MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.91587875
24SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.84661882
25KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.83488772
26ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.82495205
27GATA6_25053715_ChIP-Seq_YYC3_Human1.80631464
28FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.73634647
29SMAD4_21741376_ChIP-Seq_HESCs_Human1.71084021
30MYC_18555785_ChIP-Seq_MESCs_Mouse1.65004567
31PPAR_26484153_Chip-Seq_NCI-H1993_Human1.59998416
32NOTCH1_21737748_ChIP-Seq_TLL_Human1.57557545
33FOXH1_21741376_ChIP-Seq_EPCs_Human1.55916022
34EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.55404807
35IRF1_19129219_ChIP-ChIP_H3396_Human1.51253361
36ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.51248829
37AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.51120234
38KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.49271007
39NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.45280533
40PPARA_22158963_ChIP-Seq_LIVER_Mouse1.44106579
41SMAD4_21741376_ChIP-Seq_EPCs_Human1.41085756
42CEBPB_22108803_ChIP-Seq_LS180_Human1.40563408
43PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.40416601
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.39095139
45MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.39018191
46HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.37597737
47LXR_22158963_ChIP-Seq_LIVER_Mouse1.37475539
48RUNX1_27514584_Chip-Seq_MCF-7_Human1.36875930
49SOX2_21211035_ChIP-Seq_LN229_Human1.31995943
50TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.30795823
51FOXO3_23340844_ChIP-Seq_DLD1_Human1.29292923
52P53_22127205_ChIP-Seq_FIBROBLAST_Human1.29179975
53FOXA1_25552417_ChIP-Seq_VCAP_Human1.27925161
54CDX2_22108803_ChIP-Seq_LS180_Human1.27575589
55RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.27277392
56EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.26928953
57ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.26581232
58P63_26484246_Chip-Seq_KERATINOCYTES_Human1.26274358
59CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23684380
60SMAD3_21741376_ChIP-Seq_HESCs_Human1.23330878
61RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.23098040
62GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22560959
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.22147125
64TCF3_18692474_ChIP-Seq_MEFs_Mouse1.21996751
65SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.21966951
66AR_21909140_ChIP-Seq_LNCAP_Human1.21543557
67TDRD3_21172665_ChIP-Seq_MCF-7_Human1.20416556
68FOXA2_19822575_ChIP-Seq_HepG2_Human1.19544159
69RACK7_27058665_Chip-Seq_MCF-7_Human1.16313283
70EP300_21415370_ChIP-Seq_HL-1_Mouse1.14443373
71THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11841337
72FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.09932248
73SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.09074191
74FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.08679605
75MYB_21317192_ChIP-Seq_ERMYB_Mouse1.07885843
76SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.07628655
77SOX3_22085726_ChIP-Seq_MUSCLE_Mouse1.05567492
78NFIB_24661679_ChIP-Seq_LUNG_Mouse1.05082970
79ISL1_27105846_Chip-Seq_CPCs_Mouse1.04775828
80TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.04068652
81FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.02673735
82SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.02124223
83SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.02124223
84P53_21459846_ChIP-Seq_SAOS-2_Human1.01710776
85TP53_22127205_ChIP-Seq_IMR90_Human1.01499356
86TCF4_18268006_ChIP-ChIP_LS174T_Human0.99801736
87ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99745153
88GATA3_24758297_ChIP-Seq_MCF-7_Human0.98089247
89SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.96028727
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94788335
91TP63_22573176_ChIP-Seq_HFKS_Human0.93976735
92FOXA1_25329375_ChIP-Seq_VCAP_Human0.93837598
93FOXA1_27270436_Chip-Seq_PROSTATE_Human0.93837598
94GATA1_22383799_ChIP-Seq_G1ME_Mouse0.92719198
95DCP1A_22483619_ChIP-Seq_HELA_Human0.90545749
96RAD21_21589869_ChIP-Seq_MESCs_Mouse0.88824570
97THAP11_20581084_ChIP-Seq_MESCs_Mouse0.88519195
98TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.87956543
99SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.85486414
100IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.84757599

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000462_abnormal_digestive_system7.14689515
2MP0001664_abnormal_digestion6.45307655
3MP0000490_abnormal_crypts_of6.34967511
4MP0008004_abnormal_stomach_pH5.43578638
5MP0005381_digestive/alimentary_phenotyp5.32185256
6MP0005083_abnormal_biliary_tract4.88655853
7MP0005165_increased_susceptibility_to4.82304942
8MP0003938_abnormal_ear_development4.79514933
9MP0000470_abnormal_stomach_morphology4.48993922
10MP0001663_abnormal_digestive_system4.24839632
11MP0002089_abnormal_postnatal_growth/wei3.58765927
12MP0003119_abnormal_digestive_system3.49955754
13MP0010234_abnormal_vibrissa_follicle2.46796136
14MP0009379_abnormal_foot_pigmentation2.42781344
15MP0010155_abnormal_intestine_physiology2.36163619
16MP0004185_abnormal_adipocyte_glucose1.99120629
17MP0004036_abnormal_muscle_relaxation1.84352647
18MP0002909_abnormal_adrenal_gland1.80175718
19MP0003806_abnormal_nucleotide_metabolis1.74019395
20MP0005085_abnormal_gallbladder_physiolo1.65646661
21MP0005666_abnormal_adipose_tissue1.59655817
22MP0001873_stomach_inflammation1.36229886
23MP0006054_spinal_hemorrhage1.31603373
24MP0003763_abnormal_thymus_physiology1.29545235
25MP0005409_darkened_coat_color1.24514336
26MP0008438_abnormal_cutaneous_collagen1.21703014
27MP0001270_distended_abdomen1.18897639
28MP0002233_abnormal_nose_morphology1.18811086
29MP0003191_abnormal_cellular_cholesterol1.03058001
30MP0009250_abnormal_appendicular_skeleto1.02607586
31MP0000003_abnormal_adipose_tissue0.99598581
32MP0000477_abnormal_intestine_morphology0.98132693
33MP0000428_abnormal_craniofacial_morphol0.96721370
34MP0002877_abnormal_melanocyte_morpholog0.92774468
35MP0001286_abnormal_eye_development0.91867695
36MP0005275_abnormal_skin_tensile0.88090673
37MP0000343_altered_response_to0.85457164
38MP0005501_abnormal_skin_physiology0.80099035
39MP0010630_abnormal_cardiac_muscle0.76224643
40MP0005310_abnormal_salivary_gland0.76197791
41MP0002735_abnormal_chemical_nociception0.71297606
42MP0002163_abnormal_gland_morphology0.70686004
43MP0001666_abnormal_nutrient_absorption0.70285029
44MP0001346_abnormal_lacrimal_gland0.69697902
45MP0003959_abnormal_lean_body0.67161304
46MP0005503_abnormal_tendon_morphology0.66828083
47MP0002796_impaired_skin_barrier0.66648148
48MP0005408_hypopigmentation0.66400876
49MP0000566_synostosis0.62994904
50MP0000613_abnormal_salivary_gland0.60737132
51MP0000681_abnormal_thyroid_gland0.58113529
52MP0004858_abnormal_nervous_system0.56151846
53MP0001243_abnormal_dermal_layer0.55842528
54MP0004484_altered_response_of0.54735910
55MP0005375_adipose_tissue_phenotype0.54390478
56MP0001188_hyperpigmentation0.53274971
57MP0003705_abnormal_hypodermis_morpholog0.50684287
58MP0000858_altered_metastatic_potential0.50644111
59MP0003186_abnormal_redox_activity0.43882122
60MP0003448_altered_tumor_morphology0.43704346
61MP0002128_abnormal_blood_circulation0.43287844
62MP0003283_abnormal_digestive_organ0.42838212
63MP0005508_abnormal_skeleton_morphology0.42363527
64MP0005365_abnormal_bile_salt0.42140822
65MP0001845_abnormal_inflammatory_respons0.39225342
66MP0000313_abnormal_cell_death0.38574538
67MP0006036_abnormal_mitochondrial_physio0.37746268
68MP0002019_abnormal_tumor_incidence0.37112216
69MP0003252_abnormal_bile_duct0.36253479
70MP0009764_decreased_sensitivity_to0.35488848
71MP0009840_abnormal_foam_cell0.35419650
72MP0002249_abnormal_larynx_morphology0.34771692
73MP0002098_abnormal_vibrissa_morphology0.34520016
74MP0000163_abnormal_cartilage_morphology0.34128237
75MP0002419_abnormal_innate_immunity0.33389998
76MP0003935_abnormal_craniofacial_develop0.32240180
77MP0000367_abnormal_coat/_hair0.32092931
78MP0010094_abnormal_chromosome_stability0.31922324
79MP0004233_abnormal_muscle_weight0.31256372
80MP0005058_abnormal_lysosome_morphology0.30968708
81MP0000627_abnormal_mammary_gland0.29827221
82MP0002095_abnormal_skin_pigmentation0.29226046
83MP0001849_ear_inflammation0.29211637
84MP0005164_abnormal_response_to0.27587033
85MP0003633_abnormal_nervous_system0.27525544
86MP0005023_abnormal_wound_healing0.26612667
87MP0001731_abnormal_postnatal_growth0.26521674
88MP0002282_abnormal_trachea_morphology0.26103012
89MP0008260_abnormal_autophagy0.26102047
90MP0003795_abnormal_bone_structure0.25928315
91MP0004883_abnormal_blood_vessel0.25192450
92MP0008875_abnormal_xenobiotic_pharmacok0.24855654
93MP0001697_abnormal_embryo_size0.24513866
94MP0005330_cardiomyopathy0.24487195
95MP0002084_abnormal_developmental_patter0.22431395
96MP0005332_abnormal_amino_acid0.21551601
97MP0003984_embryonic_growth_retardation0.20933432
98MP0002080_prenatal_lethality0.20094509
99MP0002722_abnormal_immune_system0.20086341
100MP0003941_abnormal_skin_development0.19596867

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the lumbar spine (HP:0100712)8.37061774
2Mesomelia (HP:0003027)8.25580867
3Beaking of vertebral bodies (HP:0004568)7.76851970
4Thoracic kyphosis (HP:0002942)7.34067632
5Radial bowing (HP:0002986)7.18748975
6Redundant skin (HP:0001582)6.65927229
7Long toe (HP:0010511)6.14048720
8Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)5.60338711
9Abnormality of the thoracic spine (HP:0100711)5.26776338
10Bowing of the arm (HP:0006488)5.09936437
11Bowed forearm bones (HP:0003956)5.09936437
12Tubulointerstitial nephritis (HP:0001970)4.55357775
13Ovoid vertebral bodies (HP:0003300)4.55165118
14Abnormal tarsal ossification (HP:0008369)4.51050609
15Broad hallux (HP:0010055)4.28655758
16Gout (HP:0001997)4.14024532
17Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)4.05614044
18Ventricular fibrillation (HP:0001663)3.83395259
19Flared metaphyses (HP:0003015)3.76666020
20Exercise-induced myalgia (HP:0003738)3.65304369
21Limited elbow extension (HP:0001377)3.59815198
22Hypoplasia of the radius (HP:0002984)3.57057200
23Abnormality of the epiphyses of the hand (HP:0005924)3.54935445
24Broad toe (HP:0001837)3.47596287
25Abnormality involving the epiphyses of the upper limbs (HP:0003839)3.38414421
26Amyloidosis (HP:0011034)3.17690142
27Abnormal foot bone ossification (HP:0010675)3.04986743
28Short metatarsal (HP:0010743)2.97257389
29Follicular hyperkeratosis (HP:0007502)2.78610266
30Lumbar hyperlordosis (HP:0002938)2.70150979
31Aplasia/Hypoplasia of metatarsal bones (HP:0001964)2.55673509
32Forearm undergrowth (HP:0009821)2.54136862
33Ankle clonus (HP:0011448)2.52478022
34Renal salt wasting (HP:0000127)2.50647308
35Broad finger (HP:0001500)2.40623398
36Tubulointerstitial fibrosis (HP:0005576)2.39725573
37Sprengel anomaly (HP:0000912)2.31655959
38Congenital ichthyosiform erythroderma (HP:0007431)2.30233209
39Abnormality of carpal bone ossification (HP:0006257)2.26711755
40Rhabdomyolysis (HP:0003201)2.24316919
41Broad phalanx (HP:0006009)2.20448254
42Muscle stiffness (HP:0003552)2.16022232
43Opisthotonus (HP:0002179)2.13368141
44Hepatocellular necrosis (HP:0001404)2.10102365
45Pili torti (HP:0003777)2.08680903
46Broad long bones (HP:0005622)2.06821011
47Arachnodactyly (HP:0001166)2.06032959
48Increased purine levels (HP:0004368)2.05548654
49Hyperuricemia (HP:0002149)2.05548654
50Myoglobinuria (HP:0002913)2.01934573
51Tubular atrophy (HP:0000092)2.01437986
52Broad metatarsal (HP:0001783)11.7417643
53Vertebral arch anomaly (HP:0008438)11.6931536
54Short nail (HP:0001799)10.7254339
55Hepatic necrosis (HP:0002605)1.93970918
56Abdominal situs inversus (HP:0003363)1.85528934
57Abnormality of abdominal situs (HP:0011620)1.85528934
58Conjugated hyperbilirubinemia (HP:0002908)1.83575223
59Abnormality of fatty-acid metabolism (HP:0004359)1.83101778
60High anterior hairline (HP:0009890)1.77476491
61Joint laxity (HP:0001388)1.76302625
62Disproportionate tall stature (HP:0001519)1.76234068
63Hyperammonemia (HP:0001987)1.71989331
64Soft skin (HP:0000977)1.68156808
65Ankle contracture (HP:0006466)1.67856127
66Abnormal pupillary function (HP:0007686)1.67479598
67Abnormal hand bone ossification (HP:0010660)1.62722350
68Periodontitis (HP:0000704)1.62077421
69Hypotension (HP:0002615)1.61563737
70Abnormal ossification of hand bones (HP:0005921)1.59913757
71Abnormality of dentin (HP:0010299)1.58106054
72Tubulointerstitial abnormality (HP:0001969)1.56383548
73Glomerulosclerosis (HP:0000096)1.52760280
74Dilated cardiomyopathy (HP:0001644)1.52374450
75Increased density of long bones (HP:0006392)1.49503249
76Osteopenia (HP:0000938)1.48824650
77Abnormality of glycolysis (HP:0004366)1.48096607
78Ventricular arrhythmia (HP:0004308)1.47917601
79Abnormality of the renal cortex (HP:0011035)1.47120361
80Hyperphosphatemia (HP:0002905)1.40554223
81Urinary glycosaminoglycan excretion (HP:0003541)1.40357939
82Mucopolysacchariduria (HP:0008155)1.40357939
83Abnormality of polysaccharide metabolism (HP:0011012)1.40178341
84Abnormality of glycosaminoglycan metabolism (HP:0004371)1.40178341
85Abnormality of mucopolysaccharide metabolism (HP:0011020)1.40178341
86Prominent forehead (HP:0011220)1.39100422
87Diaphragmatic weakness (HP:0009113)1.38162854
88Abnormality of dicarboxylic acid metabolism (HP:0010995)1.38085126
89Dicarboxylic aciduria (HP:0003215)1.38085126
90Poor head control (HP:0002421)1.37212956
91Syncope (HP:0001279)1.36833688
92Abnormality of purine metabolism (HP:0004352)1.36250892
93Bulbar palsy (HP:0001283)1.33663498
94Bilateral sensorineural hearing impairment (HP:0008619)1.29976572
95Intrahepatic cholestasis (HP:0001406)1.29058084
96Sparse eyelashes (HP:0000653)1.27146959
97Spastic tetraparesis (HP:0001285)1.25527948
98Distal upper limb amyotrophy (HP:0007149)1.23677914
99Upper limb amyotrophy (HP:0009129)1.23677914
100Abnormality of renal excretion (HP:0011036)1.22485002

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK4.94416109
2ERN12.43386168
3NEK115.7840101
4ZAP701.67289809
5TRIB31.56012174
6MST1R1.55128058
7CDK81.44926945
8TAOK11.31607031
9NME11.20354019
10STK161.15844700
11IRAK30.81810017
12EPHA20.69875344
13EEF2K0.66754851
14PKN20.64609957
15DMPK0.63318069
16PIK3CG0.62210852
17SCYL20.61507984
18PDGFRB0.59100699
19MST40.59062073
20RIPK10.58449050
21STK40.57517151
22PASK0.57497586
23NME20.56206899
24EPHB20.51504158
25STK240.49366217
26ZAK0.45810092
27PRKCI0.44984004
28MAPKAPK50.43862462
29MAP3K30.42576158
30LMTK20.40513511
31TAOK20.39256874
32TESK10.38870653
33BLK0.36426004
34PIM20.34986121
35BMPR20.34901482
36DDR20.34359507
37MYLK0.34053279
38MET0.32737067
39MAP2K60.32451336
40PTK20.31759472
41EIF2AK30.31093392
42IRAK10.30903976
43IRAK20.28315710
44MAP3K120.26696304
45CSK0.26419454
46ERBB40.25787794
47STK390.24611548
48PRPF4B0.21978569
49MAP3K50.21633048
50MAPK110.20907650
51ILK0.20825937
52MAP2K30.20822677
53PDK20.19937682
54CSNK1G30.19584585
55MAPKAPK30.19282036
56PRKD20.19153746
57MAP3K60.18382696
58MAP3K100.17574407
59PRKD30.17524249
60PTK60.16679674
61CSNK1G10.16656767
62CCNB10.15956017
63IRAK40.14812750
64MARK20.14739110
65TGFBR10.14704654
66CSNK1A1L0.13557566
67MAP2K70.12946068
68PAK40.12509822
69ALK0.11993000
70BCKDK0.11117725
71CSNK1E0.10800043
72PRKCD0.09228332
73EGFR0.08974397
74ERBB30.08744701
75MAP3K70.07988371
76CDK11A0.07126661
77CDK150.06867993
78HIPK20.06748056
79CDK90.06739273
80CSNK1G20.06730689
81TYRO30.06673459
82ABL20.06193893
83ADRBK10.05083459
84CDK180.04975148
85RPS6KB10.04675622
86PAK10.04615414
87OXSR10.04135311
88RPS6KA20.02402150
89BUB10.02226785
90CDK140.02000179
91RET0.00887942
92PRKD10.00816501
93SRC0.00722234
94MELK0.00230843
95CDK70.00201547
96AKT2-0.0052357
97PRKCB-0.0040155
98PRKCZ-0.0037936
99NEK2-0.0021925
100RPS6KB2-0.0012604

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006034.72667389
2Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.29821822
3Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005123.00625263
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.96686973
5Tight junction_Homo sapiens_hsa045302.75614351
6Hepatitis C_Homo sapiens_hsa051602.74874610
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.63846306
8Fatty acid degradation_Homo sapiens_hsa000712.47202517
9Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.38283199
10Leukocyte transendothelial migration_Homo sapiens_hsa046702.38252962
11Fructose and mannose metabolism_Homo sapiens_hsa000512.36501149
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.35340109
13Steroid biosynthesis_Homo sapiens_hsa001002.28015492
14Maturity onset diabetes of the young_Homo sapiens_hsa049502.24899794
15Propanoate metabolism_Homo sapiens_hsa006402.19652724
16Arachidonic acid metabolism_Homo sapiens_hsa005902.04789367
17Other glycan degradation_Homo sapiens_hsa005111.94206248
18Glycosaminoglycan degradation_Homo sapiens_hsa005311.91816251
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.90209893
20Vibrio cholerae infection_Homo sapiens_hsa051101.88263407
21Glutathione metabolism_Homo sapiens_hsa004801.66706138
22Retinol metabolism_Homo sapiens_hsa008301.61524711
23Sulfur metabolism_Homo sapiens_hsa009201.51088508
24RNA polymerase_Homo sapiens_hsa030201.48534195
25Taste transduction_Homo sapiens_hsa047421.39744173
26cGMP-PKG signaling pathway_Homo sapiens_hsa040221.26683118
27Protein digestion and absorption_Homo sapiens_hsa049741.25900708
28N-Glycan biosynthesis_Homo sapiens_hsa005101.25396215
29Vascular smooth muscle contraction_Homo sapiens_hsa042701.24840479
30Linoleic acid metabolism_Homo sapiens_hsa005911.24414016
31Mineral absorption_Homo sapiens_hsa049781.23554916
32Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.21621683
33Lysosome_Homo sapiens_hsa041421.21141281
34Fatty acid metabolism_Homo sapiens_hsa012121.20229070
35Arginine and proline metabolism_Homo sapiens_hsa003301.19638346
36Pyrimidine metabolism_Homo sapiens_hsa002401.14501136
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09726825
38One carbon pool by folate_Homo sapiens_hsa006701.01647875
39Steroid hormone biosynthesis_Homo sapiens_hsa001401.01402266
40Pentose and glucuronate interconversions_Homo sapiens_hsa000401.00816667
41Tyrosine metabolism_Homo sapiens_hsa003500.99506663
42Purine metabolism_Homo sapiens_hsa002300.99182895
43Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.98740031
44p53 signaling pathway_Homo sapiens_hsa041150.97991261
45Proteasome_Homo sapiens_hsa030500.97076361
46Nitrogen metabolism_Homo sapiens_hsa009100.94003307
47Influenza A_Homo sapiens_hsa051640.92532564
48Pentose phosphate pathway_Homo sapiens_hsa000300.91022348
49Histidine metabolism_Homo sapiens_hsa003400.89741052
50Shigellosis_Homo sapiens_hsa051310.88815680
51Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.84863370
52Carbon metabolism_Homo sapiens_hsa012000.83467574
53Chemical carcinogenesis_Homo sapiens_hsa052040.80297795
54Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.78303748
55Pancreatic secretion_Homo sapiens_hsa049720.74197494
56Parkinsons disease_Homo sapiens_hsa050120.72062301
57Ether lipid metabolism_Homo sapiens_hsa005650.71710635
58Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69165709
59Pyruvate metabolism_Homo sapiens_hsa006200.67855423
60Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.67473861
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.66585064
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66579933
63Metabolic pathways_Homo sapiens_hsa011000.66178655
64Peroxisome_Homo sapiens_hsa041460.63533980
65Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61354704
66Galactose metabolism_Homo sapiens_hsa000520.60971742
67Fat digestion and absorption_Homo sapiens_hsa049750.60546776
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.59110910
69Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55930605
70Glycerolipid metabolism_Homo sapiens_hsa005610.54548425
71Cyanoamino acid metabolism_Homo sapiens_hsa004600.53562762
72Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53422744
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.53004163
74Calcium signaling pathway_Homo sapiens_hsa040200.49122983
75Fatty acid biosynthesis_Homo sapiens_hsa000610.48645996
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.48341720
77Lysine degradation_Homo sapiens_hsa003100.47884370
78Vitamin digestion and absorption_Homo sapiens_hsa049770.46213311
79Phenylalanine metabolism_Homo sapiens_hsa003600.45886195
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.43589718
81Protein export_Homo sapiens_hsa030600.42343942
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41904442
83Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41451650
84Chronic myeloid leukemia_Homo sapiens_hsa052200.41421442
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.40245862
86Nucleotide excision repair_Homo sapiens_hsa034200.36517623
87Insulin signaling pathway_Homo sapiens_hsa049100.33212852
88Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.33096070
89Sphingolipid metabolism_Homo sapiens_hsa006000.31671964
90Biosynthesis of amino acids_Homo sapiens_hsa012300.31608546
91Gastric acid secretion_Homo sapiens_hsa049710.31138472
92Pancreatic cancer_Homo sapiens_hsa052120.30957231
93Apoptosis_Homo sapiens_hsa042100.29969229
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29641716
95Tryptophan metabolism_Homo sapiens_hsa003800.29156750
96Inositol phosphate metabolism_Homo sapiens_hsa005620.27992429
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27877311
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.25962669
99Adherens junction_Homo sapiens_hsa045200.25795205
100Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.17776207

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