RAB40A

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 encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chromatin remodeling at centromere (GO:0031055)4.06261636
2CENP-A containing nucleosome assembly (GO:0034080)3.87219386
3histone exchange (GO:0043486)3.77172720
4DNA double-strand break processing (GO:0000729)3.68797871
5DNA strand renaturation (GO:0000733)3.61762319
6regulation of non-canonical Wnt signaling pathway (GO:2000050)3.61246001
7negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)3.49059564
8presynaptic membrane assembly (GO:0097105)3.47969521
9nonmotile primary cilium assembly (GO:0035058)3.34146353
10DNA integration (GO:0015074)3.32613481
11tongue development (GO:0043586)3.31707914
12intraciliary transport (GO:0042073)3.31015582
13DNA replication-dependent nucleosome assembly (GO:0006335)3.24114896
14DNA replication-dependent nucleosome organization (GO:0034723)3.24114896
15regulation of mesoderm development (GO:2000380)3.22368981
16presynaptic membrane organization (GO:0097090)3.21780894
17epithelial cilium movement (GO:0003351)3.17156328
18kinetochore assembly (GO:0051382)3.14682994
19epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.10567261
20mitochondrial DNA replication (GO:0006264)3.09473642
21DNA replication-independent nucleosome assembly (GO:0006336)3.08167570
22DNA replication-independent nucleosome organization (GO:0034724)3.08167570
23somite development (GO:0061053)3.02720852
24histone H2A acetylation (GO:0043968)3.01347853
25cerebral cortex radially oriented cell migration (GO:0021799)2.96696190
26kinetochore organization (GO:0051383)2.96536674
27negative regulation of keratinocyte proliferation (GO:0010839)2.91252331
28protein localization to kinetochore (GO:0034501)2.91217806
29positive regulation of mitochondrial fission (GO:0090141)2.90689666
30replication fork processing (GO:0031297)2.90464334
31cilium morphogenesis (GO:0060271)2.89555793
32paraxial mesoderm development (GO:0048339)2.86103916
33cilium assembly (GO:0042384)2.85992357
34DNA replication checkpoint (GO:0000076)2.83848418
35cilium organization (GO:0044782)2.83260116
36cilium movement (GO:0003341)2.82808025
37resolution of meiotic recombination intermediates (GO:0000712)2.82538931
38synapsis (GO:0007129)2.81380087
39negative regulation of cell cycle G2/M phase transition (GO:1902750)2.80780840
40substrate-independent telencephalic tangential migration (GO:0021826)2.79499406
41substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.79499406
42DNA-dependent DNA replication (GO:0006261)2.75950044
43centriole replication (GO:0007099)2.71135113
44smoothened signaling pathway (GO:0007224)2.69808839
45reciprocal DNA recombination (GO:0035825)2.69339663
46reciprocal meiotic recombination (GO:0007131)2.69339663
47metaphase plate congression (GO:0051310)2.68325070
48retinal ganglion cell axon guidance (GO:0031290)2.66915866
49regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.64831945
50mitotic sister chromatid segregation (GO:0000070)2.64722299
51double-strand break repair via homologous recombination (GO:0000724)2.60182202
52sister chromatid segregation (GO:0000819)2.59651253
53recombinational repair (GO:0000725)2.58198309
54microtubule depolymerization (GO:0007019)2.56366526
55regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.53958086
56neuron projection extension involved in neuron projection guidance (GO:1902284)2.52299369
57axon extension involved in axon guidance (GO:0048846)2.52299369
58telomere maintenance via semi-conservative replication (GO:0032201)2.50021829
59axonemal dynein complex assembly (GO:0070286)2.47718059
60translesion synthesis (GO:0019985)2.47407957
61limb bud formation (GO:0060174)2.44609443
62mitotic recombination (GO:0006312)2.44193285
63mitotic metaphase plate congression (GO:0007080)2.43254000
64cilium or flagellum-dependent cell motility (GO:0001539)2.43142529
65DNA strand elongation involved in DNA replication (GO:0006271)2.43126952
66centrosome organization (GO:0051297)2.42744046
67heterochromatin organization (GO:0070828)2.42613185
68spindle checkpoint (GO:0031577)2.42533553
69attachment of spindle microtubules to kinetochore (GO:0008608)2.40147590
70pre-miRNA processing (GO:0031054)2.39191276
71ATP-dependent chromatin remodeling (GO:0043044)2.38862528
72regulation of acyl-CoA biosynthetic process (GO:0050812)2.35503062
73embryonic foregut morphogenesis (GO:0048617)2.35164558
74embryonic pattern specification (GO:0009880)2.34422749
75nucleotide-excision repair, DNA gap filling (GO:0006297)2.33257698
76microtubule organizing center organization (GO:0031023)2.32119789
77telomere maintenance via recombination (GO:0000722)2.32027721
78regulation of centriole replication (GO:0046599)2.31642029
79positive regulation of gastrulation (GO:2000543)2.31074776
80acrosome assembly (GO:0001675)2.30883070
81DNA strand elongation (GO:0022616)2.28576638
82striatum development (GO:0021756)2.28227140
83negative regulation of DNA recombination (GO:0045910)2.27991621
84cellular component assembly involved in morphogenesis (GO:0010927)2.27852476
85postreplication repair (GO:0006301)2.26228680
86regulation of cofactor metabolic process (GO:0051193)2.26211468
87regulation of coenzyme metabolic process (GO:0051196)2.26211468
88mitotic sister chromatid cohesion (GO:0007064)2.24772511
89protein localization to chromosome, centromeric region (GO:0071459)2.24279403
90regulation of keratinocyte proliferation (GO:0010837)2.23716995
91determination of left/right symmetry (GO:0007368)2.21447240
92left/right axis specification (GO:0070986)2.20748045
93UDP-N-acetylglucosamine metabolic process (GO:0006047)2.20459828
94acrosome reaction (GO:0007340)2.19986080
95regulation of cilium movement (GO:0003352)2.19935063
96positive regulation of catecholamine secretion (GO:0033605)2.19925471
97negative regulation of axon guidance (GO:1902668)2.19654306
98male meiosis (GO:0007140)2.19294335
99cell proliferation in forebrain (GO:0021846)2.18960614
100protein heterotetramerization (GO:0051290)2.17824390

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.25033715
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.31134666
3SALL1_21062744_ChIP-ChIP_HESCs_Human3.04208596
4IGF1R_20145208_ChIP-Seq_DFB_Human2.90264571
5GBX2_23144817_ChIP-Seq_PC3_Human2.86666435
6EZH2_22144423_ChIP-Seq_EOC_Human2.84514662
7ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.72873501
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.71971132
9FUS_26573619_Chip-Seq_HEK293_Human2.69999723
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.50810428
11EWS_26573619_Chip-Seq_HEK293_Human2.34602536
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.25279786
13P300_19829295_ChIP-Seq_ESCs_Human2.13983397
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.11276513
15CTBP2_25329375_ChIP-Seq_LNCAP_Human2.11184705
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.10270874
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.06542573
18ZNF274_21170338_ChIP-Seq_K562_Hela2.05441063
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.02327739
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.81755963
21FOXM1_23109430_ChIP-Seq_U2OS_Human1.80182725
22VDR_22108803_ChIP-Seq_LS180_Human1.75508926
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72060455
24CTBP1_25329375_ChIP-Seq_LNCAP_Human1.70901817
25SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.66555630
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.61599496
27HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.61391882
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.60810145
29TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60156001
30POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.60156001
31TAF15_26573619_Chip-Seq_HEK293_Human1.59827134
32SMAD3_21741376_ChIP-Seq_EPCs_Human1.59770991
33KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.58669082
34GABP_17652178_ChIP-ChIP_JURKAT_Human1.54992607
35FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.53556549
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50983025
37AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.48635715
38SMAD4_21799915_ChIP-Seq_A2780_Human1.48468734
39TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47565532
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.47346969
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45137101
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.38645507
43MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.38040923
44UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37567401
45ELK1_19687146_ChIP-ChIP_HELA_Human1.37076219
46AR_21909140_ChIP-Seq_LNCAP_Human1.36612661
47MYC_18940864_ChIP-ChIP_HL60_Human1.36494026
48ER_23166858_ChIP-Seq_MCF-7_Human1.35698391
49EST1_17652178_ChIP-ChIP_JURKAT_Human1.33588881
50STAT3_23295773_ChIP-Seq_U87_Human1.32923437
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31168445
52IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.30532875
53CBP_20019798_ChIP-Seq_JUKART_Human1.30532875
54RUNX2_22187159_ChIP-Seq_PCA_Human1.30331566
55POU5F1_16153702_ChIP-ChIP_HESCs_Human1.30006150
56AR_25329375_ChIP-Seq_VCAP_Human1.28715040
57CREB1_15753290_ChIP-ChIP_HEK293T_Human1.28272494
58WT1_19549856_ChIP-ChIP_CCG9911_Human1.27599584
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27021882
60MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26716626
61BCAT_22108803_ChIP-Seq_LS180_Human1.23148138
62PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21020292
63SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20012437
64SOX9_26525672_Chip-Seq_HEART_Mouse1.18781083
65TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16186016
66NR3C1_21868756_ChIP-Seq_MCF10A_Human1.15362800
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14837415
68GATA1_26923725_Chip-Seq_HPCs_Mouse1.14175112
69PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14072707
70TCF4_23295773_ChIP-Seq_U87_Human1.14062531
71CBX2_27304074_Chip-Seq_ESCs_Mouse1.12297454
72RNF2_27304074_Chip-Seq_NSC_Mouse1.11872593
73KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.11544231
74SMAD4_21741376_ChIP-Seq_EPCs_Human1.11515810
75SMAD3_21741376_ChIP-Seq_HESCs_Human1.09549507
76GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.09342939
77TCF4_22108803_ChIP-Seq_LS180_Human1.09152214
78FLI1_27457419_Chip-Seq_LIVER_Mouse1.09096791
79AR_21572438_ChIP-Seq_LNCaP_Human1.08476516
80TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07971391
81TBX3_20139965_ChIP-Seq_ESCs_Mouse1.06477230
82TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.06105644
83TBX3_20139965_ChIP-Seq_MESCs_Mouse1.06031538
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.05680540
85CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.01043405
86SOX2_19829295_ChIP-Seq_ESCs_Human1.01000365
87NANOG_19829295_ChIP-Seq_ESCs_Human1.01000365
88YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.00359110
89EZH2_27304074_Chip-Seq_ESCs_Mouse0.98392414
90* SMAD4_21741376_ChIP-Seq_HESCs_Human0.97447951
91IRF1_19129219_ChIP-ChIP_H3396_Human0.97184947
92FOXM1_26456572_ChIP-Seq_MCF-7_Human0.95393215
93RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.94960580
94DCP1A_22483619_ChIP-Seq_HELA_Human0.94197881
95E2F1_21310950_ChIP-Seq_MCF-7_Human0.92224212
96BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.91842277
97BMI1_23680149_ChIP-Seq_NPCS_Mouse0.90975474
98NANOG_16153702_ChIP-ChIP_HESCs_Human0.90955120
99SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.89802007
100CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.89797077

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.89070194
2MP0010030_abnormal_orbit_morphology3.61468537
3MP0003890_abnormal_embryonic-extraembry3.54170844
4MP0003880_abnormal_central_pattern2.83691074
5MP0003122_maternal_imprinting2.22216238
6MP0003136_yellow_coat_color2.21485553
7MP0002234_abnormal_pharynx_morphology2.14647580
8MP0002938_white_spotting2.02983378
9MP0005394_taste/olfaction_phenotype2.00420762
10MP0005499_abnormal_olfactory_system2.00420762
11MP0001293_anophthalmia1.99091141
12MP0003693_abnormal_embryo_hatching1.95207001
13MP0008789_abnormal_olfactory_epithelium1.94334602
14MP0001529_abnormal_vocalization1.83233596
15MP0002233_abnormal_nose_morphology1.81438121
16MP0001984_abnormal_olfaction1.81236459
17MP0002736_abnormal_nociception_after1.80799020
18MP0004133_heterotaxia1.80362179
19MP0005248_abnormal_Harderian_gland1.75877037
20MP0010094_abnormal_chromosome_stability1.75034174
21MP0003937_abnormal_limbs/digits/tail_de1.73247713
22MP0002102_abnormal_ear_morphology1.70193225
23MP0003121_genomic_imprinting1.61706862
24MP0006072_abnormal_retinal_apoptosis1.61647001
25MP0003119_abnormal_digestive_system1.61290370
26MP0008058_abnormal_DNA_repair1.60818209
27MP0000778_abnormal_nervous_system1.60562752
28MP0003315_abnormal_perineum_morphology1.60188112
29MP0003385_abnormal_body_wall1.54355852
30MP0000049_abnormal_middle_ear1.48963542
31MP0008004_abnormal_stomach_pH1.48251245
32MP0008932_abnormal_embryonic_tissue1.35233406
33MP0001968_abnormal_touch/_nociception1.32686697
34MP0001286_abnormal_eye_development1.31734624
35MP0005551_abnormal_eye_electrophysiolog1.31532462
36MP0005423_abnormal_somatic_nervous1.29285630
37MP0009697_abnormal_copulation1.28216456
38MP0000569_abnormal_digit_pigmentation1.24905591
39MP0002697_abnormal_eye_size1.23927289
40MP0004147_increased_porphyrin_level1.19031958
41MP0004272_abnormal_basement_membrane1.18895937
42MP0000566_synostosis1.18431854
43MP0003938_abnormal_ear_development1.17039634
44MP0002653_abnormal_ependyma_morphology1.15727814
45MP0005187_abnormal_penis_morphology1.14429737
46MP0003755_abnormal_palate_morphology1.13492778
47MP0000631_abnormal_neuroendocrine_gland1.11981425
48MP0008995_early_reproductive_senescence1.11098218
49MP0008877_abnormal_DNA_methylation1.09789022
50MP0006276_abnormal_autonomic_nervous1.09773299
51MP0003718_maternal_effect1.07590163
52MP0000428_abnormal_craniofacial_morphol1.07189745
53MP0002111_abnormal_tail_morphology1.06754834
54MP0005391_vision/eye_phenotype1.06033125
55MP0001299_abnormal_eye_distance/1.05475412
56MP0003861_abnormal_nervous_system1.04879926
57MP0002160_abnormal_reproductive_system1.04128592
58MP0003077_abnormal_cell_cycle1.03452655
59MP0005253_abnormal_eye_physiology1.03202361
60MP0002210_abnormal_sex_determination1.02615045
61MP0001486_abnormal_startle_reflex0.99909787
62MP0002092_abnormal_eye_morphology0.99517466
63MP0002084_abnormal_developmental_patter0.98411243
64MP0003123_paternal_imprinting0.97669637
65MP0001929_abnormal_gametogenesis0.96796740
66MP0009053_abnormal_anal_canal0.95631904
67MP0008057_abnormal_DNA_replication0.95343083
68MP0004957_abnormal_blastocyst_morpholog0.95112991
69MP0003935_abnormal_craniofacial_develop0.94653067
70MP0003567_abnormal_fetal_cardiomyocyte0.93776387
71MP0003283_abnormal_digestive_organ0.92819979
72MP0003698_abnormal_male_reproductive0.89349325
73MP0003942_abnormal_urinary_system0.89100598
74MP0002163_abnormal_gland_morphology0.88083568
75MP0000383_abnormal_hair_follicle0.86043114
76MP0002085_abnormal_embryonic_tissue0.84588068
77MP0002557_abnormal_social/conspecific_i0.83501618
78MP0000647_abnormal_sebaceous_gland0.83477777
79MP0002752_abnormal_somatic_nervous0.83292104
80MP0003936_abnormal_reproductive_system0.83238189
81MP0000026_abnormal_inner_ear0.82498387
82MP0009250_abnormal_appendicular_skeleto0.82327867
83MP0005380_embryogenesis_phenotype0.82214708
84MP0001672_abnormal_embryogenesis/_devel0.82214708
85MP0000427_abnormal_hair_cycle0.81696640
86MP0002184_abnormal_innervation0.79817914
87MP0000653_abnormal_sex_gland0.79303261
88MP0002152_abnormal_brain_morphology0.78835352
89MP0000534_abnormal_ureter_morphology0.78411672
90MP0002751_abnormal_autonomic_nervous0.78318515
91MP0003786_premature_aging0.78213609
92MP0003111_abnormal_nucleus_morphology0.77194162
93MP0000762_abnormal_tongue_morphology0.76971397
94MP0005195_abnormal_posterior_eye0.76607026
95MP0003137_abnormal_impulse_conducting0.76383934
96MP0001145_abnormal_male_reproductive0.76193505
97MP0002109_abnormal_limb_morphology0.76050675
98MP0001346_abnormal_lacrimal_gland0.75172388
99MP0001697_abnormal_embryo_size0.75119946
100MP0006054_spinal_hemorrhage0.73796905

Predicted human phenotypes

RankGene SetZ-score
1True hermaphroditism (HP:0010459)3.52529423
2Pancreatic fibrosis (HP:0100732)3.45885420
3Pancreatic cysts (HP:0001737)2.97529020
4Bifid tongue (HP:0010297)2.96921561
5Molar tooth sign on MRI (HP:0002419)2.90300767
6Abnormality of midbrain morphology (HP:0002418)2.90300767
7Colon cancer (HP:0003003)2.83410918
8Aplasia/Hypoplasia of the tongue (HP:0010295)2.79992494
9Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.79886619
10Hepatoblastoma (HP:0002884)2.75426195
11Renal hypoplasia (HP:0000089)2.64546743
12Aplasia/Hypoplasia of the uvula (HP:0010293)2.64485557
13Anencephaly (HP:0002323)2.53900494
14Aplasia/Hypoplasia of the sacrum (HP:0008517)2.52804285
15High anterior hairline (HP:0009890)2.51906215
16Meckel diverticulum (HP:0002245)2.51690367
17Nephrogenic diabetes insipidus (HP:0009806)2.51521756
18Anophthalmia (HP:0000528)2.50735440
19Abnormal lung lobation (HP:0002101)2.48352412
20Abnormality of the ileum (HP:0001549)2.48176544
21Postaxial foot polydactyly (HP:0001830)2.47827596
22Rib fusion (HP:0000902)2.43205975
23Septo-optic dysplasia (HP:0100842)2.41702084
24Progressive inability to walk (HP:0002505)2.41675410
25Genital tract atresia (HP:0001827)2.41436855
26Preaxial foot polydactyly (HP:0001841)2.39903497
27Congenital primary aphakia (HP:0007707)2.39070921
28Nephronophthisis (HP:0000090)2.38188289
29Medial flaring of the eyebrow (HP:0010747)2.36911261
30Oligodactyly (hands) (HP:0001180)2.34947036
31Gait imbalance (HP:0002141)2.34476294
32Sclerocornea (HP:0000647)2.34248000
33Vaginal atresia (HP:0000148)2.33910250
34Abnormality of abdominal situs (HP:0011620)2.23242604
35Abdominal situs inversus (HP:0003363)2.23242604
36Cystic liver disease (HP:0006706)2.22994345
37Male pseudohermaphroditism (HP:0000037)2.22943517
38Abnormal respiratory motile cilium physiology (HP:0012261)2.22489141
39Oligodactyly (HP:0012165)2.21000405
40Optic nerve hypoplasia (HP:0000609)2.20907948
41Broad foot (HP:0001769)2.20290629
42Median cleft lip (HP:0000161)2.20223478
43Preaxial hand polydactyly (HP:0001177)2.19012574
44Retinal dysplasia (HP:0007973)2.17717137
45Postaxial hand polydactyly (HP:0001162)2.16640227
46Hypoplastic pelvis (HP:0008839)2.13574729
47Vitreoretinal degeneration (HP:0000655)2.11836719
48Supernumerary spleens (HP:0009799)2.06257025
49Occipital encephalocele (HP:0002085)2.06249426
50Abnormality of the aortic arch (HP:0012303)2.05511422
51Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.05045834
52Facial hemangioma (HP:0000329)2.04379853
53Abnormal ciliary motility (HP:0012262)2.02777332
54Cerebellar dysplasia (HP:0007033)2.00374568
55Abnormality of chromosome stability (HP:0003220)2.00270301
56Chromsome breakage (HP:0040012)1.99953174
57Inability to walk (HP:0002540)1.99821428
58Poor coordination (HP:0002370)1.98849658
59Dandy-Walker malformation (HP:0001305)1.98784881
60Ectopic kidney (HP:0000086)1.97168973
61Small hand (HP:0200055)1.96307981
62Volvulus (HP:0002580)1.95708185
63Micropenis (HP:0000054)1.94815801
64Sloping forehead (HP:0000340)1.94404943
65Multicystic kidney dysplasia (HP:0000003)1.94037731
66Absent eyebrow (HP:0002223)1.92942290
67Chromosomal breakage induced by crosslinking agents (HP:0003221)1.91872431
68Cutaneous finger syndactyly (HP:0010554)1.86521400
69Hypoplastic nipples (HP:0002557)1.85195897
70Abnormality of the renal medulla (HP:0100957)1.84872794
71Bifid scrotum (HP:0000048)1.84673859
72Abnormal respiratory epithelium morphology (HP:0012253)1.83983459
73Abnormal respiratory motile cilium morphology (HP:0005938)1.83983459
74Triphalangeal thumb (HP:0001199)1.83108224
75Cortical dysplasia (HP:0002539)1.82234874
76Narrow forehead (HP:0000341)1.81365365
77Wide intermamillary distance (HP:0006610)1.80499091
78Congenital hepatic fibrosis (HP:0002612)1.78139047
79Chronic hepatic failure (HP:0100626)1.77854313
80Abnormality of the astrocytes (HP:0100707)1.77801203
81Astrocytoma (HP:0009592)1.77801203
82Rhinitis (HP:0012384)1.77750226
83Myelomeningocele (HP:0002475)1.77301998
84Bile duct proliferation (HP:0001408)1.76120447
85Abnormal biliary tract physiology (HP:0012439)1.76120447
86Aganglionic megacolon (HP:0002251)1.74320058
87Midline defect of the nose (HP:0004122)1.73647482
88Absent radius (HP:0003974)1.73137593
89Dynein arm defect of respiratory motile cilia (HP:0012255)1.71526644
90Absent/shortened dynein arms (HP:0200106)1.71526644
91Increased number of teeth (HP:0011069)1.71420462
92Abolished electroretinogram (ERG) (HP:0000550)1.71398192
93Drooling (HP:0002307)1.71042055
94Aplasia/Hypoplasia of the tibia (HP:0005772)1.70518823
95Type II lissencephaly (HP:0007260)1.69721320
96Absent forearm bone (HP:0003953)1.66912050
97Aplasia involving forearm bones (HP:0009822)1.66912050
98Small intestinal stenosis (HP:0012848)1.66250201
99Duodenal stenosis (HP:0100867)1.66250201
100Ependymoma (HP:0002888)1.65600072

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERBB43.69679891
2PINK12.82743849
3CASK2.64037197
4BMPR1B2.49572477
5FRK2.46418172
6WEE12.29880818
7PDK22.27045755
8TNIK2.20208333
9NUAK12.11693829
10BRSK22.09328844
11EPHA42.02971655
12WNK32.01120208
13ZAK1.99689753
14PLK41.93858272
15BUB11.89040716
16PBK1.86966778
17NEK11.86142858
18MAP4K21.85414475
19MKNK21.68470548
20LATS11.67586122
21EPHB21.66436658
22TRIM281.57068371
23STK38L1.54901088
24SRPK11.54877733
25CDC71.52686328
26TGFBR11.51587945
27NEK21.50676663
28CCNB11.48474672
29PNCK1.47646482
30ACVR1B1.45490824
31MKNK11.44624966
32BCR1.41322416
33INSRR1.41316122
34TTK1.34309008
35TAF11.33207081
36PLK31.28911297
37PLK11.23921845
38VRK21.15290041
39MAPK131.15139881
40MARK31.09021518
41PLK21.06832720
42BCKDK1.05627469
43MAP2K71.05532743
44STK31.04374913
45BRSK11.01330667
46OBSCN0.97952176
47MYLK0.97804427
48CHEK20.97302351
49CDK30.93161523
50ATR0.92040386
51DYRK20.90668815
52DYRK30.88994175
53MAP3K40.87949017
54MINK10.85274208
55CSNK1G10.85126226
56MET0.83709223
57WNK40.83453504
58MST40.82082388
59AURKB0.81678129
60CSNK1A1L0.79984620
61GRK10.78836881
62MARK10.74706206
63MELK0.74689296
64ATM0.70785672
65DMPK0.68227042
66CSNK1G30.65296551
67CSNK1G20.63711226
68FGFR10.62482989
69PRKCE0.61804489
70VRK10.60490443
71CDK80.55164992
72CAMK1G0.54072487
73PRKCG0.53844516
74RPS6KA40.51875665
75NLK0.51199879
76PAK30.50104287
77ROCK10.49864661
78CDK180.49745106
79PKN10.49354419
80SGK2230.49342361
81SGK4940.49342361
82CHEK10.49290620
83CDK140.48850621
84ADRBK10.46937148
85CDK150.46822974
86NTRK20.45710382
87FLT30.44179733
88ADRBK20.44096448
89CDK11A0.43725012
90FGFR20.43714500
91EIF2AK30.42904092
92SGK20.40069374
93AURKA0.38018197
94STK390.37580461
95STK110.37418002
96TIE10.35657382
97MAP3K100.35565731
98CAMK1D0.35443535
99TLK10.35067160
100MAPKAPK50.34614930

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034302.78458358
2Homologous recombination_Homo sapiens_hsa034402.68733167
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.58828179
4Fanconi anemia pathway_Homo sapiens_hsa034602.57350916
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.45445923
6Propanoate metabolism_Homo sapiens_hsa006402.30389583
7Non-homologous end-joining_Homo sapiens_hsa034502.23880130
8Protein export_Homo sapiens_hsa030602.18632233
9Hedgehog signaling pathway_Homo sapiens_hsa043402.15597796
10DNA replication_Homo sapiens_hsa030302.14634025
11Basal cell carcinoma_Homo sapiens_hsa052171.91237646
12Basal transcription factors_Homo sapiens_hsa030221.88392854
13RNA polymerase_Homo sapiens_hsa030201.81862726
14Steroid biosynthesis_Homo sapiens_hsa001001.76400945
15Pyruvate metabolism_Homo sapiens_hsa006201.60055351
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.59453477
17Phototransduction_Homo sapiens_hsa047441.53298743
18Butanoate metabolism_Homo sapiens_hsa006501.52651023
19Nucleotide excision repair_Homo sapiens_hsa034201.52300898
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.49103303
21Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.49092297
22RNA degradation_Homo sapiens_hsa030181.43975129
23Nicotine addiction_Homo sapiens_hsa050331.42046281
24Olfactory transduction_Homo sapiens_hsa047401.41898982
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.40668772
26Cell cycle_Homo sapiens_hsa041101.34991257
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.30432941
28One carbon pool by folate_Homo sapiens_hsa006701.26608990
29Folate biosynthesis_Homo sapiens_hsa007901.25636015
30Cysteine and methionine metabolism_Homo sapiens_hsa002701.24945419
31Base excision repair_Homo sapiens_hsa034101.24204254
32Hippo signaling pathway_Homo sapiens_hsa043901.22132320
33Huntingtons disease_Homo sapiens_hsa050161.19535632
34Wnt signaling pathway_Homo sapiens_hsa043101.16808792
35Spliceosome_Homo sapiens_hsa030401.15997025
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.15421175
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.10233356
38TGF-beta signaling pathway_Homo sapiens_hsa043501.08765778
39RNA transport_Homo sapiens_hsa030131.07423520
40Parkinsons disease_Homo sapiens_hsa050121.05757077
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.03929562
42Oxidative phosphorylation_Homo sapiens_hsa001901.01256455
43Oocyte meiosis_Homo sapiens_hsa041140.97677379
44Pyrimidine metabolism_Homo sapiens_hsa002400.96708929
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.95287937
46Proteasome_Homo sapiens_hsa030500.94986650
47Ribosome_Homo sapiens_hsa030100.93173410
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.92481903
49Nitrogen metabolism_Homo sapiens_hsa009100.92162635
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.91957822
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.89420064
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.88855050
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88835630
54Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86932730
55Purine metabolism_Homo sapiens_hsa002300.85815895
56Tryptophan metabolism_Homo sapiens_hsa003800.84297126
57Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83194318
58Taste transduction_Homo sapiens_hsa047420.82551124
59Peroxisome_Homo sapiens_hsa041460.82231856
60Fatty acid degradation_Homo sapiens_hsa000710.81759920
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.81018766
622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75561876
63Lysine degradation_Homo sapiens_hsa003100.73213719
64Gap junction_Homo sapiens_hsa045400.73175694
65Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72975266
66beta-Alanine metabolism_Homo sapiens_hsa004100.72833375
67Glutathione metabolism_Homo sapiens_hsa004800.71471787
68Axon guidance_Homo sapiens_hsa043600.71419502
69mRNA surveillance pathway_Homo sapiens_hsa030150.69824679
70Adherens junction_Homo sapiens_hsa045200.68740027
71Tight junction_Homo sapiens_hsa045300.68427689
72Fatty acid metabolism_Homo sapiens_hsa012120.67771923
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.67417574
74Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.64788012
75Cocaine addiction_Homo sapiens_hsa050300.64531860
76Biosynthesis of amino acids_Homo sapiens_hsa012300.63126446
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.63014937
78Vitamin B6 metabolism_Homo sapiens_hsa007500.62214345
79Chemical carcinogenesis_Homo sapiens_hsa052040.60631735
80Alzheimers disease_Homo sapiens_hsa050100.59711864
81Metabolic pathways_Homo sapiens_hsa011000.57597422
82Carbon metabolism_Homo sapiens_hsa012000.57396356
83Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56391838
84Circadian entrainment_Homo sapiens_hsa047130.56023090
85Melanogenesis_Homo sapiens_hsa049160.55605691
86Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54684878
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52855235
88N-Glycan biosynthesis_Homo sapiens_hsa005100.51691323
89Fatty acid elongation_Homo sapiens_hsa000620.51328862
90Arginine and proline metabolism_Homo sapiens_hsa003300.50003071
91Cardiac muscle contraction_Homo sapiens_hsa042600.46126693
92Glutamatergic synapse_Homo sapiens_hsa047240.46087153
93Circadian rhythm_Homo sapiens_hsa047100.45136513
94Dopaminergic synapse_Homo sapiens_hsa047280.45038619
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44550178
96Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44248962
97p53 signaling pathway_Homo sapiens_hsa041150.42603163
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.41741367
99Selenocompound metabolism_Homo sapiens_hsa004500.41338597
100Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39919407

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