TVP23C-CDRT4

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sequestering of actin monomers (GO:0042989)4.73565239
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.09572955
3establishment of integrated proviral latency (GO:0075713)4.02750573
4paraxial mesoderm development (GO:0048339)3.69954066
5lung-associated mesenchyme development (GO:0060484)3.56447899
6limb bud formation (GO:0060174)3.49212683
7dopaminergic neuron differentiation (GO:0071542)3.48045122
8establishment of viral latency (GO:0019043)3.38266044
9COPI coating of Golgi vesicle (GO:0048205)3.37901067
10Golgi transport vesicle coating (GO:0048200)3.37901067
11establishment of protein localization to mitochondrial membrane (GO:0090151)3.29535447
12lateral sprouting from an epithelium (GO:0060601)3.25038253
13axon extension involved in axon guidance (GO:0048846)3.24486770
14neuron projection extension involved in neuron projection guidance (GO:1902284)3.24486770
15primitive streak formation (GO:0090009)3.23002905
16notochord development (GO:0030903)3.08508771
17energy coupled proton transport, down electrochemical gradient (GO:0015985)3.07344400
18ATP synthesis coupled proton transport (GO:0015986)3.07344400
19cholesterol biosynthetic process (GO:0006695)2.92955534
20G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.88907150
21kidney morphogenesis (GO:0060993)2.88748157
22DNA damage response, detection of DNA damage (GO:0042769)2.84814271
23somite rostral/caudal axis specification (GO:0032525)2.81203158
24positive regulation of gastrulation (GO:2000543)2.79334292
25sterol biosynthetic process (GO:0016126)2.74690831
267-methylguanosine mRNA capping (GO:0006370)2.74374732
27protein maturation by protein folding (GO:0022417)2.72557182
28regulation of development, heterochronic (GO:0040034)2.72402969
29otic vesicle formation (GO:0030916)2.69198276
30cell migration involved in sprouting angiogenesis (GO:0002042)2.68242841
31presynaptic membrane assembly (GO:0097105)2.68052208
32RNA capping (GO:0036260)2.65868189
337-methylguanosine RNA capping (GO:0009452)2.65868189
34ribosomal small subunit assembly (GO:0000028)2.64473073
35midbrain development (GO:0030901)2.60470538
36digestive tract morphogenesis (GO:0048546)2.57990912
37mesenchymal cell proliferation (GO:0010463)2.53242692
38convergent extension (GO:0060026)2.52879321
39protein neddylation (GO:0045116)2.50410066
40cotranslational protein targeting to membrane (GO:0006613)2.47428066
41protein-cofactor linkage (GO:0018065)2.46832820
42nonmotile primary cilium assembly (GO:0035058)2.46270303
43regulation of mitochondrial translation (GO:0070129)2.46031283
44SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.44809459
45mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.43353454
46de novo protein folding (GO:0006458)2.41518859
47respiratory electron transport chain (GO:0022904)2.41474895
48spliceosomal snRNP assembly (GO:0000387)2.40793816
49protein targeting to ER (GO:0045047)2.40493576
50planar cell polarity pathway involved in neural tube closure (GO:0090179)2.40100782
51negative chemotaxis (GO:0050919)2.39888352
52anterior/posterior axis specification (GO:0009948)2.38998743
53negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.38595846
54positive regulation of RNA splicing (GO:0033120)2.38525308
55electron transport chain (GO:0022900)2.37941587
56ectodermal placode formation (GO:0060788)2.37637394
57regulation of gastrulation (GO:0010470)2.37615971
58mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.36753212
59retinal ganglion cell axon guidance (GO:0031290)2.36027252
60regulation of retinoic acid receptor signaling pathway (GO:0048385)2.35642797
61pyrimidine nucleobase catabolic process (GO:0006208)2.34505538
62negative regulation of axon guidance (GO:1902668)2.33653726
63intraciliary transport (GO:0042073)2.33649069
64de novo posttranslational protein folding (GO:0051084)2.33506073
65proteasome assembly (GO:0043248)2.33333098
66establishment of protein localization to endoplasmic reticulum (GO:0072599)2.32411033
67epithelial tube branching involved in lung morphogenesis (GO:0060441)2.31380760
68regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.30352182
69regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.30067452
70cranial suture morphogenesis (GO:0060363)2.29981901
71regulation of non-canonical Wnt signaling pathway (GO:2000050)2.27961102
72regulation of cell-cell adhesion mediated by cadherin (GO:2000047)2.25166124
73protein localization to endoplasmic reticulum (GO:0070972)2.23350641
74post-anal tail morphogenesis (GO:0036342)2.22553777
75inner mitochondrial membrane organization (GO:0007007)2.22284896
76lens morphogenesis in camera-type eye (GO:0002089)2.22097437
77regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.21496364
78translational termination (GO:0006415)2.21071693
79craniofacial suture morphogenesis (GO:0097094)2.20734842
80peptidyl-cysteine modification (GO:0018198)2.20015509
81mesenchymal to epithelial transition (GO:0060231)2.18613891
82ribosomal large subunit biogenesis (GO:0042273)2.18253836
83branching involved in salivary gland morphogenesis (GO:0060445)2.17912467
84cellular copper ion homeostasis (GO:0006878)2.16765161
85L-ascorbic acid metabolic process (GO:0019852)2.16400936
86female gonad development (GO:0008585)2.16274692
87chaperone-mediated protein transport (GO:0072321)2.15864734
88regulation of hexokinase activity (GO:1903299)2.12540928
89regulation of glucokinase activity (GO:0033131)2.12540928
90regulation of timing of cell differentiation (GO:0048505)2.12386785
91rRNA modification (GO:0000154)2.12144015
92cell surface receptor signaling pathway involved in heart development (GO:0061311)2.11717134
93transcription elongation from RNA polymerase III promoter (GO:0006385)2.11623067
94termination of RNA polymerase III transcription (GO:0006386)2.11623067
95viral transcription (GO:0019083)2.11559385
96cullin deneddylation (GO:0010388)2.10746774
97establishment or maintenance of monopolar cell polarity (GO:0061339)2.10334003
98establishment of monopolar cell polarity (GO:0061162)2.10334003
99establishment of apical/basal cell polarity (GO:0035089)2.10168216
100mitochondrial respiratory chain complex assembly (GO:0033108)2.09557555

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.70552614
2RBPJ_22232070_ChIP-Seq_NCS_Mouse3.30688078
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.09134107
4GABP_17652178_ChIP-ChIP_JURKAT_Human2.98105069
5EST1_17652178_ChIP-ChIP_JURKAT_Human2.75065103
6NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.68919427
7WT1_19549856_ChIP-ChIP_CCG9911_Human2.48449078
8CREB1_15753290_ChIP-ChIP_HEK293T_Human2.43700249
9MYC_18555785_ChIP-Seq_MESCs_Mouse2.40970663
10NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.21077804
11CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.14545588
12TAF15_26573619_Chip-Seq_HEK293_Human2.11156526
13ELK1_19687146_ChIP-ChIP_HELA_Human2.08983556
14POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.99885175
15KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.97994105
16KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.97994105
17KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.97994105
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96351854
19HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.90053139
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.84789937
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.82379324
22ETS1_20019798_ChIP-Seq_JURKAT_Human1.80526597
23NANOG_16153702_ChIP-ChIP_HESCs_Human1.80270622
24SALL1_21062744_ChIP-ChIP_HESCs_Human1.76626976
25JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.73801599
26SOX2_16153702_ChIP-ChIP_HESCs_Human1.72832307
27FUS_26573619_Chip-Seq_HEK293_Human1.72488854
28NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.71371255
29POU5F1_16153702_ChIP-ChIP_HESCs_Human1.70369010
30ZNF274_21170338_ChIP-Seq_K562_Hela1.70312751
31NELFA_20434984_ChIP-Seq_ESCs_Mouse1.69058905
32TTF2_22483619_ChIP-Seq_HELA_Human1.66282395
33THAP11_20581084_ChIP-Seq_MESCs_Mouse1.64193349
34MYC_19079543_ChIP-ChIP_MESCs_Mouse1.63021316
35SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.61399499
36DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.61119714
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.59833564
38MYC_19030024_ChIP-ChIP_MESCs_Mouse1.55126602
39E2F1_18555785_ChIP-Seq_MESCs_Mouse1.52780003
40EWS_26573619_Chip-Seq_HEK293_Human1.50761322
41XRN2_22483619_ChIP-Seq_HELA_Human1.47700917
42ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.46773253
43SOX2_18555785_ChIP-Seq_MESCs_Mouse1.43505498
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42319104
45ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.42088187
46AR_21909140_ChIP-Seq_LNCAP_Human1.41630042
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39517410
48ESR1_15608294_ChIP-ChIP_MCF-7_Human1.38889919
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37977000
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37926310
51KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.37904310
52DCP1A_22483619_ChIP-Seq_HELA_Human1.37489790
53TCF3_18692474_ChIP-Seq_MEFs_Mouse1.35646740
54MYC_18358816_ChIP-ChIP_MESCs_Mouse1.35268089
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.35073717
56MYC_18940864_ChIP-ChIP_HL60_Human1.33660316
57SOX17_20123909_ChIP-Seq_XEN_Mouse1.33527547
58PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.30662957
59HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.28540315
60NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.27594427
61MYCN_18555785_ChIP-Seq_MESCs_Mouse1.25552814
62EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.22724498
63POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.22383032
64RNF2_27304074_Chip-Seq_NSC_Mouse1.21644098
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.21073457
66SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.20756256
67CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.19910287
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19683994
69NANOG_21062744_ChIP-ChIP_HESCs_Human1.18059370
70GABP_19822575_ChIP-Seq_HepG2_Human1.17528446
71HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.16106183
72HIF1A_21447827_ChIP-Seq_MCF-7_Human1.16018610
73PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.15434580
74POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14922513
75CLOCK_20551151_ChIP-Seq_293T_Human1.14906469
76CTBP2_25329375_ChIP-Seq_LNCAP_Human1.13348802
77P300_19829295_ChIP-Seq_ESCs_Human1.13018442
78EOMES_21245162_ChIP-Seq_HESCs_Human1.12951411
79YY1_21170310_ChIP-Seq_MESCs_Mouse1.12879595
80NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.12669542
81MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11627212
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.09236031
83ZFX_18555785_ChIP-Seq_MESCs_Mouse1.07625646
84ZNF263_19887448_ChIP-Seq_K562_Human1.06257974
85TBX3_20139965_ChIP-Seq_MESCs_Mouse1.05933360
86TBX3_20139965_ChIP-Seq_ESCs_Mouse1.04844370
87VDR_23849224_ChIP-Seq_CD4+_Human1.04399330
88RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.04352851
89ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04186538
90MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.03707167
91TP63_19390658_ChIP-ChIP_HaCaT_Human1.03382885
92FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.03370482
93SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.02508257
94POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.01273344
95ELK1_22589737_ChIP-Seq_MCF10A_Human1.00348562
96FOXP3_21729870_ChIP-Seq_TREG_Human0.99941320
97TCF4_18268006_ChIP-ChIP_LS174T_Human0.99200962
98SMAD3_21741376_ChIP-Seq_EPCs_Human0.96984524
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96385250
100SRF_21415370_ChIP-Seq_HL-1_Mouse0.96000636

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000566_synostosis3.69251537
2MP0003122_maternal_imprinting3.54649519
3MP0010030_abnormal_orbit_morphology3.33026444
4MP0000537_abnormal_urethra_morphology2.61462583
5MP0003890_abnormal_embryonic-extraembry2.50183485
6MP0003941_abnormal_skin_development2.14378840
7MP0001529_abnormal_vocalization2.13572910
8MP0004133_heterotaxia2.09223011
9MP0003283_abnormal_digestive_organ2.06431322
10MP0001299_abnormal_eye_distance/2.04190016
11MP0004272_abnormal_basement_membrane2.03338921
12MP0003136_yellow_coat_color1.93426441
13MP0002697_abnormal_eye_size1.88853580
14MP0002938_white_spotting1.88430637
15MP0003121_genomic_imprinting1.88162106
16MP0005394_taste/olfaction_phenotype1.87559568
17MP0005499_abnormal_olfactory_system1.87559568
18MP0001293_anophthalmia1.86081614
19MP0003937_abnormal_limbs/digits/tail_de1.84062468
20MP0003315_abnormal_perineum_morphology1.79140758
21MP0002102_abnormal_ear_morphology1.74434921
22MP0001286_abnormal_eye_development1.73478338
23MP0008789_abnormal_olfactory_epithelium1.69391152
24MP0001346_abnormal_lacrimal_gland1.68219988
25MP0003123_paternal_imprinting1.62913427
26MP0003567_abnormal_fetal_cardiomyocyte1.61683491
27MP0003119_abnormal_digestive_system1.60744628
28MP0001188_hyperpigmentation1.60416391
29MP0002233_abnormal_nose_morphology1.55096059
30MP0000778_abnormal_nervous_system1.54778930
31MP0003385_abnormal_body_wall1.53668586
32MP0005367_renal/urinary_system_phenotyp1.52952804
33MP0000516_abnormal_urinary_system1.52952804
34MP0005257_abnormal_intraocular_pressure1.39390089
35MP0005084_abnormal_gallbladder_morpholo1.38336657
36MP0003942_abnormal_urinary_system1.31166049
37MP0005623_abnormal_meninges_morphology1.31137278
38MP0006292_abnormal_olfactory_placode1.29699191
39MP0004957_abnormal_blastocyst_morpholog1.28863272
40MP0002282_abnormal_trachea_morphology1.24726884
41MP0009697_abnormal_copulation1.21355915
42MP0002751_abnormal_autonomic_nervous1.20011806
43MP0003880_abnormal_central_pattern1.19408194
44MP0000579_abnormal_nail_morphology1.18016718
45MP0002092_abnormal_eye_morphology1.17051370
46MP0002084_abnormal_developmental_patter1.14581956
47MP0000462_abnormal_digestive_system1.11473371
48MP0009672_abnormal_birth_weight1.10941555
49MP0003755_abnormal_palate_morphology1.09537654
50MP0003861_abnormal_nervous_system1.08310754
51MP0002277_abnormal_respiratory_mucosa1.07306968
52MP0002085_abnormal_embryonic_tissue1.06869460
53MP0005187_abnormal_penis_morphology1.06473205
54MP0000049_abnormal_middle_ear1.06071910
55MP0000631_abnormal_neuroendocrine_gland1.04744046
56MP0000534_abnormal_ureter_morphology1.03970263
57MP0000647_abnormal_sebaceous_gland1.03515714
58MP0003938_abnormal_ear_development1.02539500
59MP0001984_abnormal_olfaction1.01070989
60MP0008932_abnormal_embryonic_tissue1.00231201
61MP0009703_decreased_birth_body0.99414026
62MP0003115_abnormal_respiratory_system0.99099627
63MP0008058_abnormal_DNA_repair0.98300756
64MP0001324_abnormal_eye_pigmentation0.97492327
65MP0002111_abnormal_tail_morphology0.97412400
66MP0005380_embryogenesis_phenotype0.96513050
67MP0001672_abnormal_embryogenesis/_devel0.96513050
68MP0000762_abnormal_tongue_morphology0.95122083
69MP0005197_abnormal_uvea_morphology0.94905942
70MP0006035_abnormal_mitochondrial_morpho0.94076183
71MP0003984_embryonic_growth_retardation0.94053495
72MP0005391_vision/eye_phenotype0.93373120
73MP0002909_abnormal_adrenal_gland0.93267553
74MP0003935_abnormal_craniofacial_develop0.92924482
75MP0003693_abnormal_embryo_hatching0.92712309
76MP0003718_maternal_effect0.91144853
77MP0002088_abnormal_embryonic_growth/wei0.90578757
78MP0006072_abnormal_retinal_apoptosis0.90577871
79MP0000372_irregular_coat_pigmentation0.89185981
80MP0009379_abnormal_foot_pigmentation0.88060490
81MP0001697_abnormal_embryo_size0.87801129
82MP0002295_abnormal_pulmonary_circulatio0.86996138
83MP0002184_abnormal_innervation0.86301785
84MP0004270_analgesia0.84981496
85MP0002735_abnormal_chemical_nociception0.82231466
86MP0008438_abnormal_cutaneous_collagen0.82220833
87MP0000428_abnormal_craniofacial_morphol0.80287068
88MP0003195_calcinosis0.79977495
89MP0002090_abnormal_vision0.78264012
90MP0000955_abnormal_spinal_cord0.76091299
91MP0001666_abnormal_nutrient_absorption0.75969606
92MP0008995_early_reproductive_senescence0.75176553
93MP0001730_embryonic_growth_arrest0.75014628
94MP0004197_abnormal_fetal_growth/weight/0.74386983
95MP0003943_abnormal_hepatobiliary_system0.73035867
96MP0009053_abnormal_anal_canal0.72711923
97MP0005408_hypopigmentation0.72214998
98MP0003011_delayed_dark_adaptation0.71594186
99MP0008961_abnormal_basal_metabolism0.70139709
100MP0002081_perinatal_lethality0.69559981

Predicted human phenotypes

RankGene SetZ-score
1Intestinal atresia (HP:0011100)3.39113715
2Esophageal atresia (HP:0002032)3.33478751
3Absent eyebrow (HP:0002223)3.31104765
4Anophthalmia (HP:0000528)3.18641502
5Bilateral microphthalmos (HP:0007633)2.71868174
6Gastrointestinal atresia (HP:0002589)2.70942701
7Stenosis of the external auditory canal (HP:0000402)2.64848824
8Partial duplication of thumb phalanx (HP:0009944)2.60221241
9Septo-optic dysplasia (HP:0100842)2.59915611
10Myelomeningocele (HP:0002475)2.54134050
11Labial hypoplasia (HP:0000066)2.52414385
12Anal stenosis (HP:0002025)2.47411224
13Abnormality of the labia minora (HP:0012880)2.46162021
14Hypothermia (HP:0002045)2.43734478
15Hypoplastic female external genitalia (HP:0012815)2.42130844
16Aqueductal stenosis (HP:0002410)2.39176940
17Vaginal atresia (HP:0000148)2.33094804
18Abnormality of the anterior horn cell (HP:0006802)2.30772779
19Degeneration of anterior horn cells (HP:0002398)2.30772779
20Genital tract atresia (HP:0001827)2.26247594
21Split foot (HP:0001839)2.23400004
22Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.23062212
23Hypoplastic pelvis (HP:0008839)2.19839993
24Aplasia involving bones of the upper limbs (HP:0009823)2.18873662
25Aplasia of the phalanges of the hand (HP:0009802)2.18873662
26Aplasia involving bones of the extremities (HP:0009825)2.18873662
27Partial duplication of the phalanx of hand (HP:0009999)2.17951830
28Hepatoblastoma (HP:0002884)2.17636765
29Absent eyelashes (HP:0000561)2.14416394
30Cortical dysplasia (HP:0002539)2.13934236
31Bifid tongue (HP:0010297)2.08678077
32Abnormality of dentin (HP:0010299)2.07116879
33Occipital encephalocele (HP:0002085)2.05764569
34Hyperinsulinemic hypoglycemia (HP:0000825)2.03701282
35Hemivertebrae (HP:0002937)1.99278775
36Hypoglycemic coma (HP:0001325)1.98842696
37Absent septum pellucidum (HP:0001331)1.98585392
38Increased hepatocellular lipid droplets (HP:0006565)1.96633763
39Renal hypoplasia (HP:0000089)1.96077276
40Anteriorly placed anus (HP:0001545)1.91585469
41Bifid scrotum (HP:0000048)1.91511849
42Generalized hypotonia (HP:0001290)1.90805916
43Humeroradial synostosis (HP:0003041)1.89569860
44Synostosis involving the elbow (HP:0003938)1.89569860
45Abnormality of the lacrimal duct (HP:0011481)1.88359002
46Absent hair (HP:0002298)1.87361176
47Gait imbalance (HP:0002141)1.86557096
48Choanal stenosis (HP:0000452)1.83483051
49Double outlet right ventricle (HP:0001719)1.83109306
50Congenital malformation of the right heart (HP:0011723)1.83109306
51Oligodactyly (hands) (HP:0001180)1.82713016
52Anterior segment dysgenesis (HP:0007700)1.82229989
53True hermaphroditism (HP:0010459)1.81490892
54Hypoglycemic seizures (HP:0002173)1.81271970
55Limb dystonia (HP:0002451)1.81239380
563-Methylglutaconic aciduria (HP:0003535)1.81166586
57Alacrima (HP:0000522)1.80752811
58Abnormal lung lobation (HP:0002101)1.80081778
59Vertebral hypoplasia (HP:0008417)1.79368649
60Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.79368649
61Pancreatic fibrosis (HP:0100732)1.77655011
62Abnormality of methionine metabolism (HP:0010901)1.77364645
63Maternal diabetes (HP:0009800)1.76539078
64Anencephaly (HP:0002323)1.75810596
65Neonatal short-limb short stature (HP:0008921)1.75274618
66Acute necrotizing encephalopathy (HP:0006965)1.74855788
67Mixed hearing impairment (HP:0000410)1.74368719
68Congenital primary aphakia (HP:0007707)1.74171015
69Premature rupture of membranes (HP:0001788)1.73871387
70Trigonocephaly (HP:0000243)1.72534068
71Abnormal respiratory epithelium morphology (HP:0012253)1.72272562
72Abnormal respiratory motile cilium morphology (HP:0005938)1.72272562
73Scrotal hypoplasia (HP:0000046)1.72255140
74Pancreatic islet-cell hyperplasia (HP:0004510)1.70748554
75Acute encephalopathy (HP:0006846)1.68611208
76Aplasia/hypoplasia of the humerus (HP:0006507)1.68249333
77Preaxial hand polydactyly (HP:0001177)1.68071443
78Cutaneous finger syndactyly (HP:0010554)1.66503784
79Short tibia (HP:0005736)1.66104921
80Congenital, generalized hypertrichosis (HP:0004540)1.65789813
81Abnormality of the septum pellucidum (HP:0007375)1.65579353
82Decreased testicular size (HP:0008734)1.65532803
83Broad alveolar ridges (HP:0000187)1.65421076
84Abnormality of the labia (HP:0000058)1.65275900
85Abnormal respiratory motile cilium physiology (HP:0012261)1.64831545
86Vaginal fistula (HP:0004320)1.63589871
87Rectovaginal fistula (HP:0000143)1.62974983
88Rectal fistula (HP:0100590)1.62974983
89Ectopic anus (HP:0004397)1.62535383
90Absent radius (HP:0003974)1.59964911
91Microvesicular hepatic steatosis (HP:0001414)1.59642478
92Aplasia involving forearm bones (HP:0009822)1.59436798
93Absent forearm bone (HP:0003953)1.59436798
94Cupped ear (HP:0000378)1.59424571
95Abnormality of the nasolacrimal system (HP:0000614)1.58599611
96Abnormality of pain sensation (HP:0010832)1.57524987
97Impaired pain sensation (HP:0007328)1.57524987
98Short humerus (HP:0005792)1.56987498
99Abnormality of the parathyroid morphology (HP:0011766)1.56956784
100Rhinitis (HP:0012384)1.55324090

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TSSK63.71975404
2PNCK3.20765720
3MAP4K22.77463250
4TNIK2.70566487
5FGFR22.63463733
6VRK22.62249299
7SRPK12.39890827
8MAP3K122.19254575
9MAP3K42.14674771
10DYRK22.14238615
11BCR2.14001331
12MAP2K71.96578288
13DYRK31.93956737
14MARK11.88719153
15MAPK151.87952889
16STK161.87338820
17EPHA21.79646083
18NME11.77245223
19MST41.73366560
20CASK1.70910196
21PLK31.70895448
22LATS21.68431086
23PBK1.68403617
24LATS11.67534974
25EPHB21.66281736
26PASK1.65989899
27ERBB41.65699945
28RPS6KA41.54947901
29NEK11.54489419
30MKNK11.52034389
31BUB11.50843539
32WNK31.49267168
33TRIM281.47448852
34VRK11.43885470
35TAF11.40057464
36TTK1.32851300
37FGFR11.28108352
38TIE11.26216565
39TESK11.19490760
40MAP2K41.18558386
41STK38L1.12748698
42PLK41.09856061
43YES11.04736645
44MKNK21.04677551
45CDC71.03843079
46LIMK10.98101818
47AKT30.96598439
48WEE10.92346292
49NUAK10.92262511
50NEK20.89609144
51CSNK1G20.89557422
52KSR10.86271229
53BRD40.86163944
54PLK20.84979006
55CSNK1G10.82078176
56ERBB30.79260393
57PDK20.73502571
58BMPR1B0.71021312
59FLT30.65855303
60PAK40.65752389
61PRKCG0.64418399
62PRKCE0.62408876
63CDK190.61657970
64MAP3K50.59975522
65CSNK1G30.59595352
66PKN20.58112474
67TYRO30.57231335
68EPHA40.56579231
69PLK10.55083913
70NTRK10.54383436
71DYRK1B0.53898893
72CSNK1E0.52230077
73MAP3K60.52170942
74DYRK1A0.50641818
75CSNK1A1L0.50413691
76NTRK20.50196373
77MINK10.48936440
78TGFBR10.44317006
79CSNK2A20.43657794
80MAPKAPK50.43070930
81INSRR0.42271910
82MAP3K90.42015449
83EIF2AK10.41334565
84MAPK130.41095271
85CDK70.40066202
86EPHA30.38807893
87MAPKAPK30.38547053
88CDK140.37210835
89CDK180.36963765
90GRK10.36093695
91CSNK2A10.35272469
92PTK20.34947390
93ROCK20.33883321
94CDK11A0.33154814
95BRSK20.32366748
96CAMK2D0.31821862
97MET0.31418057
98AURKB0.31107188
99CDK150.30452816
100PRKACB0.29403250

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.50348961
2Steroid biosynthesis_Homo sapiens_hsa001002.87792840
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.74206946
4Oxidative phosphorylation_Homo sapiens_hsa001902.68577617
5Proteasome_Homo sapiens_hsa030502.60688263
6Ribosome_Homo sapiens_hsa030102.48300746
7Parkinsons disease_Homo sapiens_hsa050122.45093133
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.01816631
9Huntingtons disease_Homo sapiens_hsa050161.97571427
10Maturity onset diabetes of the young_Homo sapiens_hsa049501.94253175
11Spliceosome_Homo sapiens_hsa030401.88405062
12RNA polymerase_Homo sapiens_hsa030201.83336322
13Fatty acid elongation_Homo sapiens_hsa000621.72355638
14Basal cell carcinoma_Homo sapiens_hsa052171.68316129
15Alzheimers disease_Homo sapiens_hsa050101.59740266
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.48726747
17Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.46634099
18Basal transcription factors_Homo sapiens_hsa030221.43695243
19Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.40072629
20RNA transport_Homo sapiens_hsa030131.39833787
21Folate biosynthesis_Homo sapiens_hsa007901.37366365
22Non-homologous end-joining_Homo sapiens_hsa034501.33586514
23Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.31018828
24RNA degradation_Homo sapiens_hsa030181.30532121
25Propanoate metabolism_Homo sapiens_hsa006401.30475966
26Cardiac muscle contraction_Homo sapiens_hsa042601.27147878
27Pyruvate metabolism_Homo sapiens_hsa006201.21205314
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.21064857
29Hedgehog signaling pathway_Homo sapiens_hsa043401.17588568
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13959204
31Biosynthesis of amino acids_Homo sapiens_hsa012301.13346857
32Vitamin B6 metabolism_Homo sapiens_hsa007501.12633963
33Vitamin digestion and absorption_Homo sapiens_hsa049771.11690698
34Butanoate metabolism_Homo sapiens_hsa006501.10536675
35Nicotine addiction_Homo sapiens_hsa050331.09891518
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.09183183
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.07501212
38Mismatch repair_Homo sapiens_hsa034301.07315163
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03365054
40Hippo signaling pathway_Homo sapiens_hsa043901.00741171
41Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.99747925
42N-Glycan biosynthesis_Homo sapiens_hsa005100.97788259
43Wnt signaling pathway_Homo sapiens_hsa043100.97027260
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.96709290
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.95225530
46Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.94487286
47mRNA surveillance pathway_Homo sapiens_hsa030150.94136649
48Axon guidance_Homo sapiens_hsa043600.93910101
49Nucleotide excision repair_Homo sapiens_hsa034200.92554012
50Carbon metabolism_Homo sapiens_hsa012000.92060764
51TGF-beta signaling pathway_Homo sapiens_hsa043500.88493121
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.87049794
53Glutathione metabolism_Homo sapiens_hsa004800.84931699
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.82352181
55Selenocompound metabolism_Homo sapiens_hsa004500.81934602
562-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.81187880
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.80761501
58Vibrio cholerae infection_Homo sapiens_hsa051100.80705383
59Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.80671133
60Base excision repair_Homo sapiens_hsa034100.78802173
61Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77920611
62Primary bile acid biosynthesis_Homo sapiens_hsa001200.77394099
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.77205501
64Peroxisome_Homo sapiens_hsa041460.76613376
65Fat digestion and absorption_Homo sapiens_hsa049750.74856314
66Tight junction_Homo sapiens_hsa045300.74829591
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.72800529
68Metabolic pathways_Homo sapiens_hsa011000.71323747
69Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.71163864
70Fatty acid metabolism_Homo sapiens_hsa012120.70459710
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70258962
72Tyrosine metabolism_Homo sapiens_hsa003500.68167402
73Phenylalanine metabolism_Homo sapiens_hsa003600.65228162
74Pyrimidine metabolism_Homo sapiens_hsa002400.60575675
75Cocaine addiction_Homo sapiens_hsa050300.60343955
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60304785
77Central carbon metabolism in cancer_Homo sapiens_hsa052300.59827930
78Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59046644
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58861569
80Purine metabolism_Homo sapiens_hsa002300.57930058
81Adherens junction_Homo sapiens_hsa045200.56659310
82ECM-receptor interaction_Homo sapiens_hsa045120.54505409
83Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53649605
84Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.52919555
85Protein digestion and absorption_Homo sapiens_hsa049740.52636108
86Galactose metabolism_Homo sapiens_hsa000520.50042535
87Thyroid cancer_Homo sapiens_hsa052160.49833915
88Phototransduction_Homo sapiens_hsa047440.48423457
89Cell cycle_Homo sapiens_hsa041100.47893415
90Fructose and mannose metabolism_Homo sapiens_hsa000510.47416644
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.45058043
92Arginine and proline metabolism_Homo sapiens_hsa003300.44822381
93One carbon pool by folate_Homo sapiens_hsa006700.44286812
94Collecting duct acid secretion_Homo sapiens_hsa049660.42967623
95Starch and sucrose metabolism_Homo sapiens_hsa005000.42965113
96DNA replication_Homo sapiens_hsa030300.42520737
97Arginine biosynthesis_Homo sapiens_hsa002200.41127012
98Sulfur metabolism_Homo sapiens_hsa009200.40536915
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40129427
100Retinol metabolism_Homo sapiens_hsa008300.39015735

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