MAP7D3

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: The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of protein localization to mitochondrial membrane (GO:0090151)4.92312769
2chromatin remodeling at centromere (GO:0031055)4.76040569
3CENP-A containing nucleosome assembly (GO:0034080)4.65987988
4proteasome assembly (GO:0043248)4.21117614
5synapsis (GO:0007129)4.01115980
6histone exchange (GO:0043486)3.98248291
7mitotic metaphase plate congression (GO:0007080)3.86393305
8regulation of DNA endoreduplication (GO:0032875)3.85613340
9regulation of meiosis I (GO:0060631)3.85181128
10kinetochore organization (GO:0051383)3.77061243
11DNA replication checkpoint (GO:0000076)3.72757581
12chaperone-mediated protein transport (GO:0072321)3.66545938
13negative regulation of DNA-dependent DNA replication (GO:2000104)3.61324938
14mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.60558592
15purine nucleobase biosynthetic process (GO:0009113)3.53318879
16metaphase plate congression (GO:0051310)3.52014924
17male meiosis I (GO:0007141)3.49748046
18regulation of mitochondrial translation (GO:0070129)3.48893258
19DNA strand elongation involved in DNA replication (GO:0006271)3.45197819
20maturation of 5.8S rRNA (GO:0000460)3.44092038
21meiotic chromosome segregation (GO:0045132)3.44034699
22telomere maintenance via semi-conservative replication (GO:0032201)3.39632241
23DNA replication-independent nucleosome assembly (GO:0006336)3.37034617
24DNA replication-independent nucleosome organization (GO:0034724)3.37034617
25rRNA modification (GO:0000154)3.36775581
26rRNA processing (GO:0006364)3.36450978
27regulation of nuclear cell cycle DNA replication (GO:0033262)3.33802888
28replication fork processing (GO:0031297)3.32649440
29DNA strand elongation (GO:0022616)3.31614316
30cullin deneddylation (GO:0010388)3.30438293
31ribosomal large subunit biogenesis (GO:0042273)3.29675473
32nucleobase biosynthetic process (GO:0046112)3.26370191
33peptidyl-histidine modification (GO:0018202)3.25508473
34maturation of SSU-rRNA (GO:0030490)3.24436031
35rRNA metabolic process (GO:0016072)3.24270276
36mitotic sister chromatid cohesion (GO:0007064)3.23894152
37kinetochore assembly (GO:0051382)3.23778378
38pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.21610825
39regulation of centriole replication (GO:0046599)3.19726406
40mitochondrial respiratory chain complex assembly (GO:0033108)3.18910608
41spliceosomal snRNP assembly (GO:0000387)3.18824883
42negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.15918711
43exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.14981439
44pseudouridine synthesis (GO:0001522)3.14143024
45regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.12425027
46protein localization to kinetochore (GO:0034501)3.12171235
47protein complex biogenesis (GO:0070271)3.09710467
48mitotic sister chromatid segregation (GO:0000070)3.09242352
49nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.08091272
50mitotic recombination (GO:0006312)3.07858800
51meiosis I (GO:0007127)3.07057400
52DNA replication-dependent nucleosome assembly (GO:0006335)3.05418041
53DNA replication-dependent nucleosome organization (GO:0034723)3.05418041
54ATP synthesis coupled proton transport (GO:0015986)3.05353439
55energy coupled proton transport, down electrochemical gradient (GO:0015985)3.05353439
56telomere maintenance via recombination (GO:0000722)3.04974497
57ribosomal small subunit assembly (GO:0000028)3.04844248
58establishment of integrated proviral latency (GO:0075713)3.04177241
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.03604922
60inner mitochondrial membrane organization (GO:0007007)3.02604338
61protein deneddylation (GO:0000338)3.00758296
62resolution of meiotic recombination intermediates (GO:0000712)3.00153361
63positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.00038601
64sister chromatid cohesion (GO:0007062)2.99525015
65ribosome assembly (GO:0042255)2.98904625
66attachment of spindle microtubules to kinetochore (GO:0008608)2.97338951
67DNA ligation (GO:0006266)2.96651518
68formation of translation preinitiation complex (GO:0001731)2.96231258
69regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.95908003
70regulation of mitotic spindle checkpoint (GO:1903504)2.95908003
71rRNA methylation (GO:0031167)2.95119965
72IMP biosynthetic process (GO:0006188)2.95079688
73chromosome organization involved in meiosis (GO:0070192)2.95068008
74protein K6-linked ubiquitination (GO:0085020)2.94999831
75ribonucleoprotein complex biogenesis (GO:0022613)2.94102190
76mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.94041048
77mitochondrial respiratory chain complex I assembly (GO:0032981)2.94041048
78NADH dehydrogenase complex assembly (GO:0010257)2.94041048
79spindle checkpoint (GO:0031577)2.92350874
80ribosome biogenesis (GO:0042254)2.92058392
81double-strand break repair via homologous recombination (GO:0000724)2.91893871
82positive regulation of histone H3-K4 methylation (GO:0051571)2.91297084
83recombinational repair (GO:0000725)2.91078572
84centriole replication (GO:0007099)2.89632029
85negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.88715949
86negative regulation of ligase activity (GO:0051352)2.88715949
87nucleotide-excision repair, DNA gap filling (GO:0006297)2.88496925
88mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.87881137
89reciprocal meiotic recombination (GO:0007131)2.87692632
90reciprocal DNA recombination (GO:0035825)2.87692632
91DNA catabolic process, exonucleolytic (GO:0000738)2.87440114
92transcription elongation from RNA polymerase III promoter (GO:0006385)2.86869028
93termination of RNA polymerase III transcription (GO:0006386)2.86869028
94sister chromatid segregation (GO:0000819)2.86035276
95RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.85917183
96DNA double-strand break processing (GO:0000729)2.84100611
97negative regulation of mitotic sister chromatid separation (GO:2000816)2.83742775
98negative regulation of sister chromatid segregation (GO:0033046)2.83742775
99negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.83742775
100negative regulation of mitotic sister chromatid segregation (GO:0033048)2.83742775

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.28029864
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.60888903
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.07399256
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.04661944
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.60302018
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.59561101
7ELK1_19687146_ChIP-ChIP_HELA_Human3.12873802
8FOXM1_23109430_ChIP-Seq_U2OS_Human2.96588448
9CREB1_15753290_ChIP-ChIP_HEK293T_Human2.92825963
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.92422571
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.78897660
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.77610424
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.72891049
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.70011442
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.64470233
16VDR_23849224_ChIP-Seq_CD4+_Human2.52458939
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.29164975
18FOXP3_21729870_ChIP-Seq_TREG_Human2.26017636
19PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.25293277
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.23682317
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.20561447
22ZNF274_21170338_ChIP-Seq_K562_Hela2.20160209
23SALL1_21062744_ChIP-ChIP_HESCs_Human2.10051314
24FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.06287670
25KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.05137527
26MYC_19079543_ChIP-ChIP_MESCs_Mouse2.02865905
27EWS_26573619_Chip-Seq_HEK293_Human2.00440437
28E2F1_21310950_ChIP-Seq_MCF-7_Human1.97406334
29SRF_21415370_ChIP-Seq_HL-1_Mouse1.92792909
30FUS_26573619_Chip-Seq_HEK293_Human1.92774454
31AR_21909140_ChIP-Seq_LNCAP_Human1.86589587
32PADI4_21655091_ChIP-ChIP_MCF-7_Human1.86543738
33DCP1A_22483619_ChIP-Seq_HELA_Human1.85361181
34MYC_18940864_ChIP-ChIP_HL60_Human1.82616444
35TTF2_22483619_ChIP-Seq_HELA_Human1.80633397
36HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.79971393
37EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.79102578
38ELF1_17652178_ChIP-ChIP_JURKAT_Human1.77955714
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.77938333
40YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75629299
41NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.74807926
42E2F1_18555785_ChIP-Seq_MESCs_Mouse1.72946379
43NELFA_20434984_ChIP-Seq_ESCs_Mouse1.66051467
44NOTCH1_21737748_ChIP-Seq_TLL_Human1.64739331
45THAP11_20581084_ChIP-Seq_MESCs_Mouse1.63915638
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.61007887
47VDR_22108803_ChIP-Seq_LS180_Human1.59642985
48GABP_19822575_ChIP-Seq_HepG2_Human1.58805423
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.56691886
50FLI1_27457419_Chip-Seq_LIVER_Mouse1.54639040
51MYCN_18555785_ChIP-Seq_MESCs_Mouse1.52709494
52POU3F2_20337985_ChIP-ChIP_501MEL_Human1.37007894
53XRN2_22483619_ChIP-Seq_HELA_Human1.36788522
54HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.34215179
55IRF1_19129219_ChIP-ChIP_H3396_Human1.33704920
56ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.30399335
57PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30211378
58POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.25313001
59SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.24666173
60POU5F1_16153702_ChIP-ChIP_HESCs_Human1.23275114
61TP63_19390658_ChIP-ChIP_HaCaT_Human1.22768500
62ELK1_22589737_ChIP-Seq_MCF10A_Human1.10391727
63KDM5A_27292631_Chip-Seq_BREAST_Human1.10290899
64ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.09552434
65E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.09488262
66TP53_22573176_ChIP-Seq_HFKS_Human1.09340057
67CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.06274068
68MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05186328
69P300_19829295_ChIP-Seq_ESCs_Human1.03643836
70PCGF2_27294783_Chip-Seq_ESCs_Mouse1.02931432
71POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.02653620
72IGF1R_20145208_ChIP-Seq_DFB_Human1.02217503
73NANOG_16153702_ChIP-ChIP_HESCs_Human1.01588024
74ZFX_18555785_ChIP-Seq_MESCs_Mouse0.99826590
75EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.99367630
76YY1_21170310_ChIP-Seq_MESCs_Mouse0.97404362
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.94152904
78RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.93380316
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.91275194
80ZFP57_27257070_Chip-Seq_ESCs_Mouse0.89815388
81ERG_20887958_ChIP-Seq_HPC-7_Mouse0.88530788
82CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.87827412
83TAF15_26573619_Chip-Seq_HEK293_Human0.87061428
84SOX2_16153702_ChIP-ChIP_HESCs_Human0.82561406
85CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82326673
86CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.81173051
87SOX17_20123909_ChIP-Seq_XEN_Mouse0.79955643
88RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79462941
89CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.78826690
90HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.77661925
91TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77572529
92HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.76807933
93CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.76542889
94EZH2_27294783_Chip-Seq_NPCs_Mouse0.76297676
95BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.72924077
96SOX2_18555785_ChIP-Seq_MESCs_Mouse0.71776177
97FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.71079821
98PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.69483480
99TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.67629818
100CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.67369712

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.51230969
2MP0010094_abnormal_chromosome_stability3.96769504
3MP0008058_abnormal_DNA_repair3.85914572
4MP0003693_abnormal_embryo_hatching3.76675124
5MP0004957_abnormal_blastocyst_morpholog2.86220459
6MP0003111_abnormal_nucleus_morphology2.86011561
7MP0003077_abnormal_cell_cycle2.84551052
8MP0008877_abnormal_DNA_methylation2.81905619
9MP0008007_abnormal_cellular_replicative2.53925217
10MP0006292_abnormal_olfactory_placode2.53020370
11MP0009697_abnormal_copulation2.52865378
12MP0003786_premature_aging2.44345757
13MP0008932_abnormal_embryonic_tissue2.13508908
14MP0003806_abnormal_nucleotide_metabolis2.08417496
15MP0003718_maternal_effect2.05243102
16MP0002160_abnormal_reproductive_system2.03862127
17MP0003646_muscle_fatigue1.99387105
18MP0003941_abnormal_skin_development1.97528648
19MP0009379_abnormal_foot_pigmentation1.95176519
20MP0000372_irregular_coat_pigmentation1.75263015
21MP0002837_dystrophic_cardiac_calcinosis1.72820634
22MP0003186_abnormal_redox_activity1.69832418
23MP0002938_white_spotting1.68208384
24MP0006036_abnormal_mitochondrial_physio1.62993687
25MP0002102_abnormal_ear_morphology1.59698314
26MP0005503_abnormal_tendon_morphology1.59473215
27MP0009250_abnormal_appendicular_skeleto1.57872515
28MP0006072_abnormal_retinal_apoptosis1.54910541
29MP0002210_abnormal_sex_determination1.54192544
30MP0005389_reproductive_system_phenotype1.53991135
31MP0005174_abnormal_tail_pigmentation1.49552096
32MP0006035_abnormal_mitochondrial_morpho1.41818024
33MP0003937_abnormal_limbs/digits/tail_de1.41422564
34MP0001293_anophthalmia1.40914778
35MP0003950_abnormal_plasma_membrane1.39153351
36MP0001929_abnormal_gametogenesis1.26977391
37MP0000653_abnormal_sex_gland1.24288435
38MP0002163_abnormal_gland_morphology1.24261299
39MP0010030_abnormal_orbit_morphology1.22361436
40MP0010307_abnormal_tumor_latency1.21514309
41MP0001145_abnormal_male_reproductive1.21304539
42MP0000350_abnormal_cell_proliferation1.19917866
43MP0000358_abnormal_cell_content/1.19269422
44MP0003136_yellow_coat_color1.16292858
45MP0001697_abnormal_embryo_size1.13921756
46MP0005670_abnormal_white_adipose1.13028554
47MP0001730_embryonic_growth_arrest1.12391128
48MP0002095_abnormal_skin_pigmentation1.11991804
49MP0001661_extended_life_span1.08700271
50MP0004036_abnormal_muscle_relaxation1.08137204
51MP0002234_abnormal_pharynx_morphology1.00310934
52MP0001119_abnormal_female_reproductive0.99656536
53MP0002233_abnormal_nose_morphology0.99341632
54MP0002084_abnormal_developmental_patter0.95452525
55MP0002396_abnormal_hematopoietic_system0.94760894
56MP0000749_muscle_degeneration0.93582368
57MP0002085_abnormal_embryonic_tissue0.93300150
58MP0000049_abnormal_middle_ear0.92374866
59MP0001542_abnormal_bone_strength0.91153495
60MP0008789_abnormal_olfactory_epithelium0.91138393
61MP0004084_abnormal_cardiac_muscle0.90261380
62MP0003936_abnormal_reproductive_system0.89625787
63MP0005084_abnormal_gallbladder_morpholo0.89575933
64MP0001919_abnormal_reproductive_system0.89461629
65MP0000313_abnormal_cell_death0.89343621
66MP0004215_abnormal_myocardial_fiber0.88801294
67MP0004808_abnormal_hematopoietic_stem0.86364348
68MP0001286_abnormal_eye_development0.85530200
69MP0010368_abnormal_lymphatic_system0.84973316
70MP0001188_hyperpigmentation0.84474054
71MP0003119_abnormal_digestive_system0.81175118
72MP0005380_embryogenesis_phenotype0.79920973
73MP0001672_abnormal_embryogenesis/_devel0.79920973
74MP0005330_cardiomyopathy0.78511169
75MP0003698_abnormal_male_reproductive0.77917382
76MP0009053_abnormal_anal_canal0.77474618
77MP0002080_prenatal_lethality0.76282074
78MP0003755_abnormal_palate_morphology0.76167882
79MP0008775_abnormal_heart_ventricle0.75692204
80MP0005171_absent_coat_pigmentation0.75402261
81MP0010352_gastrointestinal_tract_polyps0.75339321
82MP0004197_abnormal_fetal_growth/weight/0.75037107
83MP0005266_abnormal_metabolism0.74484824
84MP0002751_abnormal_autonomic_nervous0.74435627
85MP0005075_abnormal_melanosome_morpholog0.74097514
86MP0003011_delayed_dark_adaptation0.73910485
87MP0005253_abnormal_eye_physiology0.73688889
88MP0003984_embryonic_growth_retardation0.72708211
89MP0005623_abnormal_meninges_morphology0.72547045
90MP0002111_abnormal_tail_morphology0.71488958
91MP0003567_abnormal_fetal_cardiomyocyte0.71479737
92MP0002109_abnormal_limb_morphology0.71151017
93MP0000631_abnormal_neuroendocrine_gland0.70960315
94MP0000015_abnormal_ear_pigmentation0.69845077
95MP0002932_abnormal_joint_morphology0.69750235
96MP0002088_abnormal_embryonic_growth/wei0.69335099
97MP0004272_abnormal_basement_membrane0.69105511
98MP0001764_abnormal_homeostasis0.69003437
99MP0002177_abnormal_outer_ear0.68660291
100MP0005275_abnormal_skin_tensile0.67813974

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)4.30922722
2Lipid accumulation in hepatocytes (HP:0006561)4.06955692
3Chromosomal breakage induced by crosslinking agents (HP:0003221)3.97226321
4Colon cancer (HP:0003003)3.53414294
5Abnormality of chromosome stability (HP:0003220)3.43918503
6Volvulus (HP:0002580)3.33764996
7Acute necrotizing encephalopathy (HP:0006965)3.28399163
8Increased hepatocellular lipid droplets (HP:0006565)3.17091160
9Acute encephalopathy (HP:0006846)3.13471197
10Increased CSF lactate (HP:0002490)3.11256848
11Aplasia/Hypoplasia of the uvula (HP:0010293)3.07913890
12Mitochondrial inheritance (HP:0001427)3.05276557
13Meckel diverticulum (HP:0002245)2.98851419
14Abnormal mitochondria in muscle tissue (HP:0008316)2.86814316
15Abnormality of the ileum (HP:0001549)2.84484757
16Ectopic kidney (HP:0000086)2.78239637
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.71117215
18Decreased activity of mitochondrial respiratory chain (HP:0008972)2.71117215
19Progressive macrocephaly (HP:0004481)2.70255841
20Hepatocellular necrosis (HP:0001404)2.67261935
21Duodenal stenosis (HP:0100867)2.67244285
22Small intestinal stenosis (HP:0012848)2.67244285
23Absent thumb (HP:0009777)2.66799121
24Reticulocytopenia (HP:0001896)2.66599775
25Abnormality of the preputium (HP:0100587)2.59463417
26Abnormality of midbrain morphology (HP:0002418)2.56566540
27Molar tooth sign on MRI (HP:0002419)2.56566540
28Type I transferrin isoform profile (HP:0003642)2.52251583
29Renal Fanconi syndrome (HP:0001994)2.49593957
30Congenital, generalized hypertrichosis (HP:0004540)2.44378014
31Pancreatic fibrosis (HP:0100732)2.42485368
32Hepatic necrosis (HP:0002605)2.40716779
33Sloping forehead (HP:0000340)2.37229034
34Abnormal lung lobation (HP:0002101)2.35454163
35Abnormality of the duodenum (HP:0002246)2.35294083
36Cerebral edema (HP:0002181)2.34386030
37Methylmalonic acidemia (HP:0002912)2.31992035
38Pancreatic cysts (HP:0001737)2.28190160
39Short tibia (HP:0005736)2.28129153
40Triphalangeal thumb (HP:0001199)2.27959916
41Abnormality of cells of the erythroid lineage (HP:0012130)2.26454241
42Aplasia/Hypoplasia of the tibia (HP:0005772)2.23139997
43Abnormal glycosylation (HP:0012345)2.22363789
44Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22363789
45Abnormal protein N-linked glycosylation (HP:0012347)2.22363789
46Abnormal protein glycosylation (HP:0012346)2.22363789
47Short middle phalanx of the 5th finger (HP:0004220)2.20888571
48Increased serum lactate (HP:0002151)2.20350536
49Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.19630671
50Increased muscle lipid content (HP:0009058)2.17723907
51Abnormal number of erythroid precursors (HP:0012131)2.16165012
52Abnormality of the labia minora (HP:0012880)2.13314786
53Birth length less than 3rd percentile (HP:0003561)2.08362643
54Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.06656716
55Exertional dyspnea (HP:0002875)2.06574728
56Nephronophthisis (HP:0000090)2.04643267
57Methylmalonic aciduria (HP:0012120)2.04608259
58Lactic acidosis (HP:0003128)2.03779375
59Degeneration of anterior horn cells (HP:0002398)2.03153535
60Abnormality of the anterior horn cell (HP:0006802)2.03153535
61Respiratory failure (HP:0002878)2.01487163
62Clubbing of toes (HP:0100760)2.00670471
633-Methylglutaconic aciduria (HP:0003535)1.99669927
64Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.98534285
65True hermaphroditism (HP:0010459)1.98217436
66Abnormality of the carotid arteries (HP:0005344)1.97114467
67Myelodysplasia (HP:0002863)1.96940537
68Abnormality of DNA repair (HP:0003254)1.95971287
69Small hand (HP:0200055)1.94801193
70Macrocytic anemia (HP:0001972)1.91931776
71Abnormality of the phalanges of the 5th finger (HP:0004213)1.89500810
72Respiratory difficulties (HP:0002880)1.86869374
73Postaxial foot polydactyly (HP:0001830)1.84406434
74Abnormal number of incisors (HP:0011064)1.84267183
75Abnormal biliary tract physiology (HP:0012439)1.80174043
76Bile duct proliferation (HP:0001408)1.80174043
77Neoplasm of the colon (HP:0100273)1.79059136
78Reduced antithrombin III activity (HP:0001976)1.77736826
79Aplasia/Hypoplasia of the tongue (HP:0010295)1.77024374
80Abnormality of alanine metabolism (HP:0010916)1.75927602
81Hyperalaninemia (HP:0003348)1.75927602
82Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75927602
83Sclerocornea (HP:0000647)1.74710092
84Increased nuchal translucency (HP:0010880)1.73435110
85Supernumerary spleens (HP:0009799)1.72766516
86Horseshoe kidney (HP:0000085)1.72351591
87Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.72324234
88Oligodactyly (hands) (HP:0001180)1.72156733
89Congenital stationary night blindness (HP:0007642)1.71923226
90Stenosis of the external auditory canal (HP:0000402)1.71509795
91Absent radius (HP:0003974)1.70710560
92Facial diplegia (HP:0001349)1.69724664
93Increased intramyocellular lipid droplets (HP:0012240)1.69192674
94Abnormality of the fovea (HP:0000493)1.67841607
95Preaxial hand polydactyly (HP:0001177)1.67418824
96Median cleft lip (HP:0000161)1.66797094
97Aplastic anemia (HP:0001915)1.65501431
98Absent forearm bone (HP:0003953)1.64738271
99Aplasia involving forearm bones (HP:0009822)1.64738271
100Sensory axonal neuropathy (HP:0003390)1.64528373

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.10284521
2CDC73.32570383
3PLK42.94850882
4VRK22.87590439
5NEK12.76344254
6NUAK12.61269443
7TTK2.47033515
8MST42.24311740
9PNCK2.20975240
10ZAK2.18547381
11PLK32.16714916
12EIF2AK12.16412740
13SRPK12.05133454
14WEE12.03145574
15FRK2.00271625
16EIF2AK31.97527729
17MKNK21.85278191
18STK161.79247788
19VRK11.78349441
20MKNK11.73235036
21BMPR1B1.72514919
22TAF11.71249916
23BRSK21.70274858
24PLK11.67111204
25TNIK1.48215538
26PBK1.46733357
27MAP4K21.45446914
28ADRBK21.34197713
29CHEK21.33223090
30PLK21.28921711
31NEK21.25777229
32ACVR1B1.25374184
33ATR1.23396203
34WNK31.21325658
35NLK1.14659787
36TSSK61.13267410
37AURKB1.12634795
38STK31.05365198
39PDK21.04054957
40CSNK1G11.01618484
41NME10.99416792
42TLK10.98693195
43CDK80.97670540
44CSNK1G30.97494290
45STK38L0.96968771
46ATM0.95306249
47NME20.94212611
48TRIM280.93616992
49GRK10.93223581
50STK100.93004047
51CSNK1A1L0.91791131
52CHEK10.88191780
53EIF2AK20.85812311
54BCKDK0.84902067
55STK390.83797633
56TIE10.81344920
57FLT30.77716030
58CSNK1G20.76159902
59MYLK0.75871945
60LIMK10.71962816
61ADRBK10.71573898
62TGFBR10.70350620
63CCNB10.68323396
64CSNK2A20.67643658
65WNK40.67476845
66MELK0.66817216
67CDK190.66667106
68CSNK2A10.65474881
69BRSK10.64908929
70CDK70.59179218
71DYRK20.56101496
72ERBB30.55740467
73AURKA0.54803949
74MAP3K120.53553989
75CSNK1E0.52865009
76MAP3K80.52723638
77TEC0.49338718
78PAK20.49119266
79MAP2K20.48613632
80ILK0.47257785
81OXSR10.47149204
82NEK90.46445664
83ABL20.44699987
84CLK10.43399208
85CDK40.43368376
86CDK10.42513766
87STK40.42125593
88MUSK0.41561287
89ERBB40.41327270
90KDR0.40684963
91BRAF0.40621319
92CDK60.39185885
93PRKCI0.39127851
94CDK20.38509359
95CDK90.38350547
96MET0.37909481
97PRKCE0.37370563
98RPS6KA50.35174346
99PINK10.33959525
100MAPKAPK50.32939033

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.73227966
2DNA replication_Homo sapiens_hsa030303.72271480
3Homologous recombination_Homo sapiens_hsa034403.67086160
4Mismatch repair_Homo sapiens_hsa034303.65233444
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.33291172
6Ribosome_Homo sapiens_hsa030103.28313947
7Non-homologous end-joining_Homo sapiens_hsa034503.16418750
8RNA polymerase_Homo sapiens_hsa030202.74791683
9Nucleotide excision repair_Homo sapiens_hsa034202.73034182
10Protein export_Homo sapiens_hsa030602.70905072
11Fanconi anemia pathway_Homo sapiens_hsa034602.55476241
12Oxidative phosphorylation_Homo sapiens_hsa001902.42657515
13One carbon pool by folate_Homo sapiens_hsa006702.40753133
14RNA transport_Homo sapiens_hsa030132.35626298
15Parkinsons disease_Homo sapiens_hsa050122.27207831
16Basal transcription factors_Homo sapiens_hsa030222.17274701
17Spliceosome_Homo sapiens_hsa030402.16467695
18Base excision repair_Homo sapiens_hsa034102.14271031
19RNA degradation_Homo sapiens_hsa030182.10487300
20Cell cycle_Homo sapiens_hsa041102.01513714
21Pyrimidine metabolism_Homo sapiens_hsa002401.92988299
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.86191004
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.84238684
24Huntingtons disease_Homo sapiens_hsa050161.74052551
25Selenocompound metabolism_Homo sapiens_hsa004501.65146737
26Propanoate metabolism_Homo sapiens_hsa006401.56272371
27Purine metabolism_Homo sapiens_hsa002301.45286870
28Alzheimers disease_Homo sapiens_hsa050101.35143526
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.31217574
30Cysteine and methionine metabolism_Homo sapiens_hsa002701.26147754
31Sulfur relay system_Homo sapiens_hsa041221.25146087
32Folate biosynthesis_Homo sapiens_hsa007901.24038720
33p53 signaling pathway_Homo sapiens_hsa041151.20422518
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09872485
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.08280364
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04480527
37Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03875225
38Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.98786962
39mRNA surveillance pathway_Homo sapiens_hsa030150.89592158
40Pyruvate metabolism_Homo sapiens_hsa006200.88738027
41Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.85650473
42Fatty acid elongation_Homo sapiens_hsa000620.85569385
43Cardiac muscle contraction_Homo sapiens_hsa042600.80378537
44Oocyte meiosis_Homo sapiens_hsa041140.78166056
45Phototransduction_Homo sapiens_hsa047440.72161873
46TGF-beta signaling pathway_Homo sapiens_hsa043500.71474098
47Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.70063738
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.63484703
49Vitamin B6 metabolism_Homo sapiens_hsa007500.57973514
50Olfactory transduction_Homo sapiens_hsa047400.57641553
51Metabolic pathways_Homo sapiens_hsa011000.57276242
52Tryptophan metabolism_Homo sapiens_hsa003800.52959183
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.52111502
54Glutathione metabolism_Homo sapiens_hsa004800.51944225
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51172417
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49127591
57Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48372608
58Primary immunodeficiency_Homo sapiens_hsa053400.44250354
59Lysine degradation_Homo sapiens_hsa003100.42459711
60Asthma_Homo sapiens_hsa053100.40541061
61Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.39593766
62Drug metabolism - other enzymes_Homo sapiens_hsa009830.38608218
63Regulation of autophagy_Homo sapiens_hsa041400.37045267
64N-Glycan biosynthesis_Homo sapiens_hsa005100.36139125
65Hedgehog signaling pathway_Homo sapiens_hsa043400.35524505
66Nitrogen metabolism_Homo sapiens_hsa009100.34200688
67Epstein-Barr virus infection_Homo sapiens_hsa051690.33739262
68Caffeine metabolism_Homo sapiens_hsa002320.33620834
69Butanoate metabolism_Homo sapiens_hsa006500.33357690
70Sulfur metabolism_Homo sapiens_hsa009200.32679406
71Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32620686
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.32511681
73Wnt signaling pathway_Homo sapiens_hsa043100.31844059
74Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30634705
75Basal cell carcinoma_Homo sapiens_hsa052170.30522183
76Peroxisome_Homo sapiens_hsa041460.29361863
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28881435
78Intestinal immune network for IgA production_Homo sapiens_hsa046720.28575881
79Hippo signaling pathway_Homo sapiens_hsa043900.28116519
80Carbon metabolism_Homo sapiens_hsa012000.27337858
81Fatty acid metabolism_Homo sapiens_hsa012120.26348145
82Fatty acid degradation_Homo sapiens_hsa000710.26190518
83Systemic lupus erythematosus_Homo sapiens_hsa053220.25773885
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24463727
85beta-Alanine metabolism_Homo sapiens_hsa004100.22454567
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.22383973
87Melanoma_Homo sapiens_hsa052180.21013237
88HTLV-I infection_Homo sapiens_hsa051660.16090868
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15815525
90Steroid biosynthesis_Homo sapiens_hsa001000.15669935
91ECM-receptor interaction_Homo sapiens_hsa045120.14939655
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.14677280
93Arachidonic acid metabolism_Homo sapiens_hsa005900.14002923
94Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.12577282
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.11217873
96Retinol metabolism_Homo sapiens_hsa008300.11041067
972-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.10234393
98Linoleic acid metabolism_Homo sapiens_hsa005910.09856708
99Herpes simplex infection_Homo sapiens_hsa051680.09706358
100PI3K-Akt signaling pathway_Homo sapiens_hsa041510.08995166

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