EXOC6

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 is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.49726558
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.49726558
3antigen processing and presentation of endogenous antigen (GO:0019883)4.93193435
4interkinetic nuclear migration (GO:0022027)4.59254070
5neural tube formation (GO:0001841)4.15314754
6positive regulation of B cell differentiation (GO:0045579)4.07960681
7regulation of hexokinase activity (GO:1903299)3.98637975
8regulation of glucokinase activity (GO:0033131)3.98637975
9positive regulation of gamma-delta T cell activation (GO:0046645)3.82314469
10centriole replication (GO:0007099)3.81672213
11ribosomal small subunit assembly (GO:0000028)3.78001019
12definitive hemopoiesis (GO:0060216)3.77567792
13ether lipid metabolic process (GO:0046485)3.57916833
14protoporphyrinogen IX metabolic process (GO:0046501)3.57207712
15antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.57065820
16regulation of B cell receptor signaling pathway (GO:0050855)3.56038172
17DNA double-strand break processing (GO:0000729)3.55804456
18positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.50419611
19megakaryocyte development (GO:0035855)3.50347717
20monoubiquitinated protein deubiquitination (GO:0035520)3.46349919
21response to pheromone (GO:0019236)3.41281068
22protoporphyrinogen IX biosynthetic process (GO:0006782)3.38660844
23establishment of protein localization to Golgi (GO:0072600)3.33129061
24regulation of sarcomere organization (GO:0060297)3.32769541
25angiogenesis involved in wound healing (GO:0060055)3.29976863
26resolution of meiotic recombination intermediates (GO:0000712)3.29421343
27protein K11-linked deubiquitination (GO:0035871)3.28057167
28positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.27858175
29necroptotic process (GO:0070266)3.23927366
30regulation of meiosis I (GO:0060631)3.23578538
31regulation of gamma-delta T cell differentiation (GO:0045586)3.21410558
32protein targeting to Golgi (GO:0000042)3.16805251
33regulation of helicase activity (GO:0051095)3.15612979
34B cell receptor signaling pathway (GO:0050853)3.15037942
35antigen processing and presentation via MHC class Ib (GO:0002475)3.14703784
36regulation of B cell differentiation (GO:0045577)3.13766994
37DNA deamination (GO:0045006)3.13419017
38Arp2/3 complex-mediated actin nucleation (GO:0034314)3.13351937
39retrograde transport, vesicle recycling within Golgi (GO:0000301)3.12645950
40heme biosynthetic process (GO:0006783)3.09043278
41erythrocyte maturation (GO:0043249)3.07280970
42replication fork processing (GO:0031297)3.06586389
43DNA unwinding involved in DNA replication (GO:0006268)3.06275718
44double-strand break repair via homologous recombination (GO:0000724)3.05267105
45mast cell activation (GO:0045576)3.05166120
46telomere maintenance via semi-conservative replication (GO:0032201)3.04483153
47DNA damage response, detection of DNA damage (GO:0042769)3.02340201
48cellular response to ethanol (GO:0071361)3.01071192
49recombinational repair (GO:0000725)3.01036011
50DNA strand elongation involved in DNA replication (GO:0006271)3.00024801
51detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.99592068
52L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.98320769
53nucleotide transmembrane transport (GO:1901679)2.97848127
54regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.93744513
55negative regulation of erythrocyte differentiation (GO:0045647)2.92686982
56S-adenosylmethionine metabolic process (GO:0046500)2.92299246
57positive regulation of mitotic sister chromatid separation (GO:1901970)2.92028640
58positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.92028640
59positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.92028640
60histone H2A acetylation (GO:0043968)2.91200140
61lysine catabolic process (GO:0006554)2.90938737
62lysine metabolic process (GO:0006553)2.90938737
63signal peptide processing (GO:0006465)2.88804537
64DNA strand elongation (GO:0022616)2.87993627
65regulation of erythrocyte differentiation (GO:0045646)2.87137846
66valine metabolic process (GO:0006573)2.87010358
67synapsis (GO:0007129)2.85944285
68T cell homeostasis (GO:0043029)2.85056842
69kinetochore organization (GO:0051383)2.84965901
70non-recombinational repair (GO:0000726)2.82226373
71double-strand break repair via nonhomologous end joining (GO:0006303)2.82226373
72tricarboxylic acid metabolic process (GO:0072350)2.80648528
73misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.80229764
74Golgi to endosome transport (GO:0006895)2.80141664
75embryonic hemopoiesis (GO:0035162)2.80059399
76porphyrin-containing compound biosynthetic process (GO:0006779)2.79081339
77negative regulation of phagocytosis (GO:0050765)2.78061149
78mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.77014311
79positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.77014311
80prenylation (GO:0097354)2.76875504
81protein prenylation (GO:0018342)2.76875504
82regulation of gamma-delta T cell activation (GO:0046643)2.75430745
83purine-containing compound salvage (GO:0043101)2.74946266
84deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.74615030
85mast cell activation involved in immune response (GO:0002279)2.73973870
86mast cell degranulation (GO:0043303)2.73973870
87DNA integration (GO:0015074)2.73968652
88pancreas development (GO:0031016)2.73580430
89negative regulation of cell killing (GO:0031342)2.70907484
90negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.70907484
91NADH metabolic process (GO:0006734)2.69331920
92histone mRNA catabolic process (GO:0071044)2.68313056
93righting reflex (GO:0060013)2.67329797
94nucleus localization (GO:0051647)2.65780957
95telomere maintenance via recombination (GO:0000722)2.65125408
96IMP metabolic process (GO:0046040)2.64546271
97axoneme assembly (GO:0035082)2.64514896
98programmed necrotic cell death (GO:0097300)2.62010639
99oxaloacetate metabolic process (GO:0006107)2.61306401
100dopamine transport (GO:0015872)2.59885669
101regulation of acyl-CoA biosynthetic process (GO:0050812)2.59009085
102negative regulation of neurotransmitter transport (GO:0051589)2.58456404
103adenosine metabolic process (GO:0046085)2.57671780
104lymphocyte homeostasis (GO:0002260)2.56538920
105DNA ligation (GO:0006266)2.56122282
106response to interleukin-15 (GO:0070672)2.55986730
107response to protozoan (GO:0001562)2.55855343
108mRNA modification (GO:0016556)2.55586986
109postreplication repair (GO:0006301)2.55009941
110DNA replication initiation (GO:0006270)2.54847303
111regulation of sulfur metabolic process (GO:0042762)2.54589589
112negative regulation of heart rate (GO:0010459)2.53628779
113mitotic recombination (GO:0006312)2.53425438
114intraciliary transport (GO:0042073)2.53228926
115detection of light stimulus involved in visual perception (GO:0050908)2.53221795
116detection of light stimulus involved in sensory perception (GO:0050962)2.53221795
117platelet dense granule organization (GO:0060155)2.52669876
118keratinocyte development (GO:0003334)2.52648422
119succinate metabolic process (GO:0006105)2.51900492
120drug transmembrane transport (GO:0006855)2.51588034
121leukocyte homeostasis (GO:0001776)2.50885320
122heme metabolic process (GO:0042168)2.50520046
123blood vessel maturation (GO:0001955)2.50219837
124positive regulation of histone H3-K4 methylation (GO:0051571)2.49408422
125mismatch repair (GO:0006298)2.49088170
126negative regulation of DNA recombination (GO:0045910)2.49045812
127regulation of centriole replication (GO:0046599)2.48674277
128actin-myosin filament sliding (GO:0033275)2.48443509
129muscle filament sliding (GO:0030049)2.48443509
130pinocytosis (GO:0006907)2.47650731
131IMP biosynthetic process (GO:0006188)2.47573894
132defense response to protozoan (GO:0042832)2.47123779
133tetrapyrrole biosynthetic process (GO:0033014)2.46562863
134necrotic cell death (GO:0070265)2.46377207
135protein K6-linked ubiquitination (GO:0085020)2.46293678
136mitotic sister chromatid cohesion (GO:0007064)2.46079070
137peptidyl-lysine trimethylation (GO:0018023)2.45374299
138L-methionine biosynthetic process (GO:0071265)2.45333306
139amino acid salvage (GO:0043102)2.45333306
140L-methionine salvage (GO:0071267)2.45333306
141microtubule anchoring (GO:0034453)2.45096693
142positive regulation of lamellipodium assembly (GO:0010592)2.44877841
143regulation of protein glycosylation (GO:0060049)2.44683760
144photoreceptor cell maintenance (GO:0045494)2.43548666
145tachykinin receptor signaling pathway (GO:0007217)2.43257893
146somatic hypermutation of immunoglobulin genes (GO:0016446)2.42822958
147somatic diversification of immune receptors via somatic mutation (GO:0002566)2.42822958
148regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.41782111
149DNA catabolic process, exonucleolytic (GO:0000738)2.40796907
150kinetochore assembly (GO:0051382)2.40788579
151positive regulation of interferon-alpha production (GO:0032727)2.40662207
152regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.40358316
153regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.40086021
154purine nucleotide salvage (GO:0032261)2.39776187
155startle response (GO:0001964)2.39619978
156endothelium development (GO:0003158)2.39616740
157tricarboxylic acid cycle (GO:0006099)2.38878995
158endosome to pigment granule transport (GO:0043485)2.38780646
159endosome to melanosome transport (GO:0035646)2.38780646
160cellular ketone body metabolic process (GO:0046950)2.37718153
161negative regulation of cAMP-mediated signaling (GO:0043951)2.37288720
162glycerol ether metabolic process (GO:0006662)2.37024886
163regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.36196650
164microglial cell activation (GO:0001774)2.35679260
165regulation of DNA endoreduplication (GO:0032875)2.32841228
166neutrophil mediated immunity (GO:0002446)2.31909502
167protein K63-linked deubiquitination (GO:0070536)2.31615621
168translesion synthesis (GO:0019985)2.30536313
169urate metabolic process (GO:0046415)2.30294192
170mature B cell differentiation (GO:0002335)2.30286527
171myeloid cell development (GO:0061515)2.29589734
172response to interferon-beta (GO:0035456)2.29379770
173reciprocal meiotic recombination (GO:0007131)2.28953064
174reciprocal DNA recombination (GO:0035825)2.28953064
175pentose-phosphate shunt (GO:0006098)2.28819022
176dosage compensation (GO:0007549)2.28370695
177rRNA catabolic process (GO:0016075)2.27390926
178negative thymic T cell selection (GO:0045060)2.26928723
179porphyrin-containing compound metabolic process (GO:0006778)2.26538607
180secretory granule organization (GO:0033363)2.26367513
181drug transport (GO:0015893)2.24499217
182positive regulation of erythrocyte differentiation (GO:0045648)2.24378157
183histamine transport (GO:0051608)2.23893672
184positive regulation of granulocyte differentiation (GO:0030854)2.23691937
185oxidative phosphorylation (GO:0006119)2.23596304
186regulation of interferon-alpha production (GO:0032647)2.23039416
187regulation of response to interferon-gamma (GO:0060330)2.22822112
188actin nucleation (GO:0045010)2.21970470
1892-oxoglutarate metabolic process (GO:0006103)2.21813347
190immunoglobulin mediated immune response (GO:0016064)2.20383619
191killing of cells in other organism involved in symbiotic interaction (GO:0051883)2.20382285
192disruption of cells of other organism involved in symbiotic interaction (GO:0051818)2.20382285
193fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.19852504
194erythrocyte development (GO:0048821)2.19438986
195regulation of necroptotic process (GO:0060544)2.18756605
196CENP-A containing nucleosome assembly (GO:0034080)2.17880329
197mature B cell differentiation involved in immune response (GO:0002313)2.17519777

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.63354416
2GATA1_22025678_ChIP-Seq_K562_Human3.75936564
3SCL_19346495_ChIP-Seq_HPC-7_Human3.52625576
4* POU3F2_20337985_ChIP-ChIP_501MEL_Human3.50524355
5* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.25130409
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.08121853
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.07441977
8IGF1R_20145208_ChIP-Seq_DFB_Human3.03314053
9CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.90392069
10SALL1_21062744_ChIP-ChIP_HESCs_Human2.90256056
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.88426540
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.79509392
13GBX2_23144817_ChIP-Seq_PC3_Human2.74345411
14SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.66042232
15* TAF15_26573619_Chip-Seq_HEK293_Human2.55202197
16IRF8_21731497_ChIP-ChIP_J774_Mouse2.53835340
17FUS_26573619_Chip-Seq_HEK293_Human2.43618774
18EWS_26573619_Chip-Seq_HEK293_Human2.42682455
19RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.38840511
20MYC_22102868_ChIP-Seq_BL_Human2.35727568
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.35250886
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.34800414
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.34589660
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.31709203
25MYB_21317192_ChIP-Seq_ERMYB_Mouse2.29228017
26SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.23347877
27TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.22603951
28FLI1_27457419_Chip-Seq_LIVER_Mouse2.21934414
29ELF1_17652178_ChIP-ChIP_JURKAT_Human2.21806645
30FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.12099085
31BP1_19119308_ChIP-ChIP_Hs578T_Human2.08835740
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02567471
33FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.02476001
34P300_19829295_ChIP-Seq_ESCs_Human1.98379977
35SPI1_23547873_ChIP-Seq_NB4_Human1.93307962
36MYC_18555785_ChIP-Seq_MESCs_Mouse1.89946233
37ER_23166858_ChIP-Seq_MCF-7_Human1.89272905
38FOXM1_23109430_ChIP-Seq_U2OS_Human1.88916876
39CIITA_25753668_ChIP-Seq_RAJI_Human1.88518318
40IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.88435921
41ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.88224888
42* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.87897262
43ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.87771726
44ERG_20887958_ChIP-Seq_HPC-7_Mouse1.87280054
45TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.86484993
46RBPJ_22232070_ChIP-Seq_NCS_Mouse1.85448466
47HOXB4_20404135_ChIP-ChIP_EML_Mouse1.85235949
48VDR_21846776_ChIP-Seq_THP-1_Human1.83956473
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.81530374
50LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.80784364
51HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.78253471
52EGR1_19374776_ChIP-ChIP_THP-1_Human1.77933815
53MYB_26560356_Chip-Seq_TH2_Human1.77694291
54NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.76236228
55PCGF2_27294783_Chip-Seq_ESCs_Mouse1.73984795
56BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.73697732
57NOTCH1_21737748_ChIP-Seq_TLL_Human1.73061866
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.73055041
59VDR_22108803_ChIP-Seq_LS180_Human1.70138014
60SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.68486034
61ZNF274_21170338_ChIP-Seq_K562_Hela1.68250543
62* GATA1_19941827_ChIP-Seq_MEL_Mouse1.68081382
63* IRF8_27001747_Chip-Seq_BMDM_Mouse1.67833371
64* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.66506365
65GATA1_22383799_ChIP-Seq_G1ME_Mouse1.66383903
66STAT4_19710469_ChIP-ChIP_TH1__Mouse1.66145817
67SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65257543
68RUNX1_22412390_ChIP-Seq_EML_Mouse1.64617760
69SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.63935097
70LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.62512075
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.60541007
72E2F1_21310950_ChIP-Seq_MCF-7_Human1.60430935
73PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60187745
74* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.59637327
75EST1_17652178_ChIP-ChIP_JURKAT_Human1.57676595
76SMAD_19615063_ChIP-ChIP_OVARY_Human1.57473933
77FOXP3_21729870_ChIP-Seq_TREG_Human1.57306687
78* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.56036014
79SUZ12_27294783_Chip-Seq_NPCs_Mouse1.55765122
80BRD4_27068464_Chip-Seq_AML-cells_Mouse1.55525444
81MAF_26560356_Chip-Seq_TH1_Human1.55183361
82VDR_23849224_ChIP-Seq_CD4+_Human1.54994445
83FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.54057539
84IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.52691223
85CBP_20019798_ChIP-Seq_JUKART_Human1.52691223
86SMAD4_21799915_ChIP-Seq_A2780_Human1.51797529
87PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.51515703
88KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.50081937
89RUNX_20019798_ChIP-Seq_JUKART_Human1.50008420
90CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.49398357
91CTBP2_25329375_ChIP-Seq_LNCAP_Human1.49345843
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.48465328
93MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.47739740
94GATA2_22383799_ChIP-Seq_G1ME_Mouse1.47328936
95* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.47117520
96MYB_26560356_Chip-Seq_TH1_Human1.46799994
97TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.46124864
98* STAT3_23295773_ChIP-Seq_U87_Human1.43938517
99NFE2_27457419_Chip-Seq_LIVER_Mouse1.43895079
100PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43632559
101FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.41876421
102HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.40782677
103FLI1_21867929_ChIP-Seq_TH2_Mouse1.39487445
104HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.37978181
105EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.37595687
106GABP_17652178_ChIP-ChIP_JURKAT_Human1.37113652
107E2F1_18555785_Chip-Seq_ESCs_Mouse1.35556901
108UTX_26944678_Chip-Seq_JUKART_Human1.34751122
109TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.34640543
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.34087562
111SPI1_23127762_ChIP-Seq_K562_Human1.33582944
112* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.33513458
113RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.32885069
114P53_22387025_ChIP-Seq_ESCs_Mouse1.32537105
115CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32535502
116NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.32107648
117* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.31937164
118* TCF4_23295773_ChIP-Seq_U87_Human1.31399972
119* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.31240488
120MYC_18358816_ChIP-ChIP_MESCs_Mouse1.30192153
121SRF_21415370_ChIP-Seq_HL-1_Mouse1.30135258
122* STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.28170237
123CRX_20693478_ChIP-Seq_RETINA_Mouse1.27837344
124SUZ12_18555785_Chip-Seq_ESCs_Mouse1.27656037
125OCT4_21477851_ChIP-Seq_ESCs_Mouse1.27218424
126CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.25393744
127JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.24695582
128TCF7_22412390_ChIP-Seq_EML_Mouse1.24251060
129MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24212660
130NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.23853130
131CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.23122901
132CMYC_18555785_Chip-Seq_ESCs_Mouse1.22347971
133STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.21855621
134TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21601324
135MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20135390
136VDR_24763502_ChIP-Seq_THP-1_Human1.20117459
137ETS1_20019798_ChIP-Seq_JURKAT_Human1.19508978
138TP53_22573176_ChIP-Seq_HFKS_Human1.19400537
139CREB1_15753290_ChIP-ChIP_HEK293T_Human1.19324454
140SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.19242542
141GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.18827683
142* TCF4_22108803_ChIP-Seq_LS180_Human1.18551226
143* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18509082
144BCAT_22108803_ChIP-Seq_LS180_Human1.17431358
145AR_25329375_ChIP-Seq_VCAP_Human1.17174011
146SOX2_19829295_ChIP-Seq_ESCs_Human1.16792060
147NANOG_19829295_ChIP-Seq_ESCs_Human1.16792060
148MYC_19030024_ChIP-ChIP_MESCs_Mouse1.16304792
149GATA1_19941826_ChIP-Seq_K562_Human1.16275246
150GATA3_27048872_Chip-Seq_THYMUS_Human1.16128990
151E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.15266250
152P300_18555785_Chip-Seq_ESCs_Mouse1.13796460
153STAT3_18555785_Chip-Seq_ESCs_Mouse1.13626466
154EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.13606094
155TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.13229184
156PCGF2_27294783_Chip-Seq_NPCs_Mouse1.13092275
157* SMAD3_21741376_ChIP-Seq_EPCs_Human1.12352124
158ELK1_19687146_ChIP-ChIP_HELA_Human1.12071756
159KDM5A_27292631_Chip-Seq_BREAST_Human1.11666793
160* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.10446260
161IRF1_19129219_ChIP-ChIP_H3396_Human1.10325185
162RUNX2_22187159_ChIP-Seq_PCA_Human1.10243877
163NELFA_20434984_ChIP-Seq_ESCs_Mouse1.10177024
164EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.09955671
165* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.09814551
166HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.09207333
167SALL4_22934838_ChIP-ChIP_CD34+_Human1.08721702
168EGR1_23403033_ChIP-Seq_LIVER_Mouse1.08665390
169* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.07238398
170NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06675549
171* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.04728846
172EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.04221435
173PIAS1_25552417_ChIP-Seq_VCAP_Human1.03721279
174RXR_22158963_ChIP-Seq_LIVER_Mouse1.02969016
175DCP1A_22483619_ChIP-Seq_HELA_Human1.01570248
176TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01235017
177POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01235017
178AR_21909140_ChIP-Seq_LNCAP_Human1.01147431
179GATA3_26560356_Chip-Seq_TH2_Human1.00482514
180TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.98933606
181THAP11_20581084_ChIP-Seq_MESCs_Mouse0.98892904
182GABP_19822575_ChIP-Seq_HepG2_Human0.98718964
183CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.97201183
184XRN2_22483619_ChIP-Seq_HELA_Human0.97071438

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002396_abnormal_hematopoietic_system3.50675912
2* MP0004147_increased_porphyrin_level3.23836622
3MP0003787_abnormal_imprinting3.06392246
4MP0003656_abnormal_erythrocyte_physiolo2.97426039
5MP0008877_abnormal_DNA_methylation2.84576257
6MP0000569_abnormal_digit_pigmentation2.79053224
7MP0005360_urolithiasis2.75993180
8MP0004145_abnormal_muscle_electrophysio2.65775844
9MP0001835_abnormal_antigen_presentation2.64300385
10MP0003880_abnormal_central_pattern2.43577773
11MP0005671_abnormal_response_to2.20097801
12MP0005464_abnormal_platelet_physiology2.17524775
13MP0004808_abnormal_hematopoietic_stem2.11374847
14MP0002009_preneoplasia2.10837769
15MP0003195_calcinosis2.08397586
16MP0003763_abnormal_thymus_physiology2.07352214
17* MP0002398_abnormal_bone_marrow2.03984151
18MP0005397_hematopoietic_system_phenotyp2.03086192
19MP0001545_abnormal_hematopoietic_system2.03086192
20MP0004484_altered_response_of2.02449458
21MP0001800_abnormal_humoral_immune1.98012999
22MP0002163_abnormal_gland_morphology1.90175528
23MP0000372_irregular_coat_pigmentation1.88460486
24MP0009785_altered_susceptibility_to1.88260246
25MP0001853_heart_inflammation1.86733286
26MP0003724_increased_susceptibility_to1.81622192
27* MP0000689_abnormal_spleen_morphology1.80847950
28MP0003191_abnormal_cellular_cholesterol1.77331540
29MP0002166_altered_tumor_susceptibility1.76779373
30MP0005025_abnormal_response_to1.76401146
31MP0001529_abnormal_vocalization1.76201760
32MP0000685_abnormal_immune_system1.74417942
33MP0002420_abnormal_adaptive_immunity1.74018816
34MP0001819_abnormal_immune_cell1.71353653
35MP0002723_abnormal_immune_serum1.70419218
36MP0005174_abnormal_tail_pigmentation1.68887075
37MP0006036_abnormal_mitochondrial_physio1.68865614
38MP0002452_abnormal_antigen_presenting1.67698878
39* MP0002722_abnormal_immune_system1.64023266
40MP0000716_abnormal_immune_system1.60139848
41MP0006276_abnormal_autonomic_nervous1.59207619
42MP0010094_abnormal_chromosome_stability1.56434035
43MP0002139_abnormal_hepatobiliary_system1.55952316
44MP0005000_abnormal_immune_tolerance1.54857654
45* MP0002429_abnormal_blood_cell1.54382900
46MP0003436_decreased_susceptibility_to1.53764220
47MP0005084_abnormal_gallbladder_morpholo1.53443145
48MP0002419_abnormal_innate_immunity1.51703601
49MP0006054_spinal_hemorrhage1.48729901
50MP0002148_abnormal_hypersensitivity_rea1.48198273
51MP0005646_abnormal_pituitary_gland1.47012766
52MP0002332_abnormal_exercise_endurance1.44640270
53MP0003183_abnormal_peptide_metabolism1.43112193
54MP0009697_abnormal_copulation1.41043350
55MP0002138_abnormal_hepatobiliary_system1.40105479
56MP0003121_genomic_imprinting1.39810278
57MP0002160_abnormal_reproductive_system1.38508776
58MP0005085_abnormal_gallbladder_physiolo1.35923188
59MP0002837_dystrophic_cardiac_calcinosis1.35579756
60MP0005387_immune_system_phenotype1.35365683
61MP0001790_abnormal_immune_system1.35365683
62MP0005365_abnormal_bile_salt1.34892201
63MP0005187_abnormal_penis_morphology1.34688002
64MP0005379_endocrine/exocrine_gland_phen1.33542815
65MP0000465_gastrointestinal_hemorrhage1.32557695
66MP0008469_abnormal_protein_level1.31692307
67MP0000703_abnormal_thymus_morphology1.29942886
68MP0003300_gastrointestinal_ulcer1.29335208
69MP0003172_abnormal_lysosome_physiology1.27518399
70MP0000015_abnormal_ear_pigmentation1.26412458
71MP0008057_abnormal_DNA_replication1.25613177
72MP0001486_abnormal_startle_reflex1.25587140
73MP0001764_abnormal_homeostasis1.24526166
74MP0003828_pulmonary_edema1.23266831
75MP0001845_abnormal_inflammatory_respons1.23170301
76MP0003567_abnormal_fetal_cardiomyocyte1.23112448
77MP0001873_stomach_inflammation1.22669544
78MP0005386_behavior/neurological_phenoty1.22224534
79MP0004924_abnormal_behavior1.22224534
80MP0005266_abnormal_metabolism1.21214876
81MP0008875_abnormal_xenobiotic_pharmacok1.20828702
82MP0006292_abnormal_olfactory_placode1.19713770
83MP0002928_abnormal_bile_duct1.19650438
84MP0000631_abnormal_neuroendocrine_gland1.18628140
85MP0003943_abnormal_hepatobiliary_system1.18432651
86MP0002736_abnormal_nociception_after1.18103714
87MP0005167_abnormal_blood-brain_barrier1.17917615
88MP0010155_abnormal_intestine_physiology1.17838499
89MP0004130_abnormal_muscle_cell1.16893737
90MP0003890_abnormal_embryonic-extraembry1.16362693
91MP0002006_tumorigenesis1.16163497
92MP0005645_abnormal_hypothalamus_physiol1.16155697
93* MP0005584_abnormal_enzyme/coenzyme_acti1.15593940
94MP0003866_abnormal_defecation1.12770328
95MP0003303_peritoneal_inflammation1.12578569
96MP0006072_abnormal_retinal_apoptosis1.12256326
97MP0003077_abnormal_cell_cycle1.11829622
98MP0000609_abnormal_liver_physiology1.10155555
99MP0004510_myositis1.09623336
100MP0005319_abnormal_enzyme/_coenzyme1.08577739
101MP0004084_abnormal_cardiac_muscle1.08263083
102MP0002127_abnormal_cardiovascular_syste1.08091671
103MP0003806_abnormal_nucleotide_metabolis1.07780044
104MP0002405_respiratory_system_inflammati1.07540876
105MP0003221_abnormal_cardiomyocyte_apopto1.07052454
106MP0006035_abnormal_mitochondrial_morpho1.06979470
107MP0009643_abnormal_urine_homeostasis1.06496997
108MP0009764_decreased_sensitivity_to1.06348926
109MP0008872_abnormal_physiological_respon1.04708448
110MP0001986_abnormal_taste_sensitivity1.04493131
111* MP0005636_abnormal_mineral_homeostasis1.04047563
112MP0004883_abnormal_blood_vessel1.03612041
113MP0005075_abnormal_melanosome_morpholog1.02394996
114MP0002693_abnormal_pancreas_physiology1.01899945
115MP0000013_abnormal_adipose_tissue1.01785015
116MP0000749_muscle_degeneration1.01556916
117MP0005389_reproductive_system_phenotype1.00912136
118MP0004142_abnormal_muscle_tone1.00287363
119MP0005670_abnormal_white_adipose0.99852142
120MP0004036_abnormal_muscle_relaxation0.99394074
121MP0003111_abnormal_nucleus_morphology0.98587193
122MP0003252_abnormal_bile_duct0.98437315
123MP0009333_abnormal_splenocyte_physiolog0.98254521
124MP0005220_abnormal_exocrine_pancreas0.98168610
125MP0002095_abnormal_skin_pigmentation0.97945159
126MP0003693_abnormal_embryo_hatching0.97915276
127MP0010329_abnormal_lipoprotein_level0.97250178
128MP0005058_abnormal_lysosome_morphology0.96253388
129MP0005376_homeostasis/metabolism_phenot0.95619830
130MP0002019_abnormal_tumor_incidence0.94407255
131MP0000490_abnormal_crypts_of0.94370441
132MP0004215_abnormal_myocardial_fiber0.94330091
133MP0004233_abnormal_muscle_weight0.93894049
134MP0001919_abnormal_reproductive_system0.92279342
135MP0000427_abnormal_hair_cycle0.91954186
136MP0003646_muscle_fatigue0.90195514
137MP0009046_muscle_twitch0.90143688
138MP0004043_abnormal_pH_regulation0.89779343
139MP0004134_abnormal_chest_morphology0.89483783
140MP0009840_abnormal_foam_cell0.88989229
141MP0001968_abnormal_touch/_nociception0.88830628
142MP0000598_abnormal_liver_morphology0.88467642
143MP0005253_abnormal_eye_physiology0.88089804
144MP0002106_abnormal_muscle_physiology0.87981495
145MP0009780_abnormal_chondrocyte_physiolo0.87876070
146MP0008058_abnormal_DNA_repair0.86489532
147MP0010307_abnormal_tumor_latency0.86004070
148MP0005551_abnormal_eye_electrophysiolog0.85465924
149MP0008004_abnormal_stomach_pH0.85329334
150MP0003186_abnormal_redox_activity0.85296824
151MP0005367_renal/urinary_system_phenotyp0.83509070
152MP0000516_abnormal_urinary_system0.83509070
153MP0000343_altered_response_to0.83200885
154MP0005332_abnormal_amino_acid0.81272494
155MP0009763_increased_sensitivity_to0.80503060
156MP0001929_abnormal_gametogenesis0.80048348
157MP0010386_abnormal_urinary_bladder0.79288941
158MP0004270_analgesia0.79130165
159MP0002822_catalepsy0.78512095
160MP0005620_abnormal_muscle_contractility0.76799807
161MP0008775_abnormal_heart_ventricle0.72196089
162MP0010678_abnormal_skin_adnexa0.71588915
163MP0005248_abnormal_Harderian_gland0.71503296
164MP0010368_abnormal_lymphatic_system0.70987665
165MP0002078_abnormal_glucose_homeostasis0.70815856
166MP0000383_abnormal_hair_follicle0.70149639
167MP0001944_abnormal_pancreas_morphology0.69575744
168MP0002972_abnormal_cardiac_muscle0.69506933
169MP0004085_abnormal_heartbeat0.68554323
170MP0005451_abnormal_body_composition0.67941391
171MP0000647_abnormal_sebaceous_gland0.66292350

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the heme biosynthetic pathway (HP:0010472)5.03828797
2IgM deficiency (HP:0002850)3.82741371
3Petechiae (HP:0000967)3.73304902
4Nemaline bodies (HP:0003798)3.39379901
5Muscle fiber inclusion bodies (HP:0100299)3.37752633
6Abnormal number of erythroid precursors (HP:0012131)3.34433214
7Poikilocytosis (HP:0004447)3.30882349
8Prolonged bleeding time (HP:0003010)3.29466036
9Thrombocytosis (HP:0001894)3.23045296
10Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.19122247
11Renal cortical cysts (HP:0000803)3.18047861
12Papillary thyroid carcinoma (HP:0002895)3.10908797
13Abnormality of cells of the erythroid lineage (HP:0012130)3.03567912
14Hyperinsulinemic hypoglycemia (HP:0000825)2.95005531
15Epistaxis (HP:0000421)2.84016421
16Recurrent abscess formation (HP:0002722)2.83354423
17Long clavicles (HP:0000890)2.83063089
18Chronic otitis media (HP:0000389)2.82871045
19Abnormality of chromosome stability (HP:0003220)2.74120332
20Recurrent bacterial skin infections (HP:0005406)2.72524543
21Abnormal platelet function (HP:0011869)2.71933039
22Impaired platelet aggregation (HP:0003540)2.71933039
23Acanthocytosis (HP:0001927)2.68157504
24Muscle hypertrophy of the lower extremities (HP:0008968)2.67407201
25Calf muscle hypertrophy (HP:0008981)2.65656578
26Volvulus (HP:0002580)2.59131338
27Elevated erythrocyte sedimentation rate (HP:0003565)2.54593096
28Recurrent bronchitis (HP:0002837)2.53885392
29Hypothermia (HP:0002045)2.52577263
30Recurrent viral infections (HP:0004429)2.48646252
31Thyroid carcinoma (HP:0002890)2.47996792
32Birth length less than 3rd percentile (HP:0003561)2.46015061
33Abnormality of the renal cortex (HP:0011035)2.45951337
34Increased neuronal autofluorescent lipopigment (HP:0002074)2.41444985
35Aplastic anemia (HP:0001915)2.39346039
36Medial flaring of the eyebrow (HP:0010747)2.39052079
37Increased serum ferritin (HP:0003281)2.37845541
38Hyperventilation (HP:0002883)2.37446721
39Febrile seizures (HP:0002373)2.37368105
40Amaurosis fugax (HP:0100576)2.35604938
41Hyperbilirubinemia (HP:0002904)2.35331468
42Papilledema (HP:0001085)2.35191749
43Distal arthrogryposis (HP:0005684)2.33501369
44Absence seizures (HP:0002121)2.29572859
45Gingival bleeding (HP:0000225)2.28425750
46IgG deficiency (HP:0004315)2.27929461
47Fair hair (HP:0002286)2.27427232
48Spontaneous hematomas (HP:0007420)2.26608421
49Abnormality of iron homeostasis (HP:0011031)2.26179886
50Generalized aminoaciduria (HP:0002909)2.25711033
51Atonic seizures (HP:0010819)2.24347881
52Curly hair (HP:0002212)2.23795711
53Increased cerebral lipofuscin (HP:0011813)2.23639767
54Microcytic anemia (HP:0001935)2.20421686
55Abnormality of T cell physiology (HP:0011840)2.19551176
56Hematochezia (HP:0002573)2.19494119
57Difficulty running (HP:0009046)2.15618292
58Agnosia (HP:0010524)2.14153580
59Acute necrotizing encephalopathy (HP:0006965)2.12806988
60Myoglobinuria (HP:0002913)2.12375231
61Abnormality of endocrine pancreas physiology (HP:0012093)2.12079065
62Abnormality of the pancreatic islet cells (HP:0006476)2.12079065
63Rhabdomyosarcoma (HP:0002859)2.11694375
64Rimmed vacuoles (HP:0003805)2.11247473
65Hepatic necrosis (HP:0002605)2.11224115
66Methylmalonic acidemia (HP:0002912)2.10818911
67Progressive macrocephaly (HP:0004481)2.10704569
68Biliary tract neoplasm (HP:0100574)2.08959388
69Pancreatic islet-cell hyperplasia (HP:0004510)2.08645155
70Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.07680991
71Abnormality of alanine metabolism (HP:0010916)2.07680991
72Hyperalaninemia (HP:0003348)2.07680991
73Reticulocytosis (HP:0001923)2.07451228
74Abnormality of B cell number (HP:0010975)2.07145421
75B lymphocytopenia (HP:0010976)2.07145421
76Abnormality of T cells (HP:0002843)2.06593474
77Abnormal platelet volume (HP:0011876)2.06472457
78Gaze-evoked nystagmus (HP:0000640)2.05731926
79Abnormal biliary tract morphology (HP:0012440)2.04813981
80Focal motor seizures (HP:0011153)2.04252607
81Recurrent fungal infections (HP:0002841)2.04225303
82Chest pain (HP:0100749)2.03813691
83Medulloblastoma (HP:0002885)2.02800698
84Ketosis (HP:0001946)2.01279015
85Abnormality of midbrain morphology (HP:0002418)2.01191271
86Molar tooth sign on MRI (HP:0002419)2.01191271
87Recurrent gram-negative bacterial infections (HP:0005420)2.00392710
88Hypoglycemic coma (HP:0001325)2.00164655
89Abnormality of transition element cation homeostasis (HP:0011030)2.00096084
90Gastrointestinal inflammation (HP:0004386)2.00000036
91Rhabdomyolysis (HP:0003201)1.99721141
92Acute myeloid leukemia (HP:0004808)1.99521674
93Subaortic stenosis (HP:0001682)1.97922234
94Abnormality of the left ventricular outflow tract (HP:0011103)1.97922234
95Myositis (HP:0100614)1.97318729
96Lymphopenia (HP:0001888)1.97165521
97Abnormality of fatty-acid metabolism (HP:0004359)1.97018150
98Dialeptic seizures (HP:0011146)1.96922588
99Exercise-induced muscle cramps (HP:0003710)1.96385410
100Abnormality of the fingertips (HP:0001211)1.96290434
101Verrucae (HP:0200043)1.94792384
102Papilloma (HP:0012740)1.94792384
103Abnormality of reticulocytes (HP:0004312)1.94467246
104Hepatocellular necrosis (HP:0001404)1.93887059
105Sex reversal (HP:0012245)1.93462787
106Abnormal sex determination (HP:0012244)1.93462787
107IgA deficiency (HP:0002720)1.93268226
108Lymphoma (HP:0002665)1.93163165
109Hyperammonemia (HP:0001987)1.91996415
110Hypoglycemic seizures (HP:0002173)1.91379432
111Hypoplasia of the thymus (HP:0000778)1.91348186
112Gastrointestinal stroma tumor (HP:0100723)1.90611813
113Increased CSF lactate (HP:0002490)1.88636865
114Purpura (HP:0000979)1.88024872
115Cellulitis (HP:0100658)1.87645290
116Meningitis (HP:0001287)1.86397002
117Abnormality of cells of the lymphoid lineage (HP:0012140)1.86151452
118Myelodysplasia (HP:0002863)1.85344700
119Cystic hygroma (HP:0000476)1.85236883
120Mediastinal lymphadenopathy (HP:0100721)1.84753532
121Neoplasm of the small intestine (HP:0100833)1.84361841
122Nausea (HP:0002018)1.83690721
123Ketoacidosis (HP:0001993)1.83481853
124Metabolic acidosis (HP:0001942)1.83034498
125Abnormality of dicarboxylic acid metabolism (HP:0010995)1.82796991
126Dicarboxylic aciduria (HP:0003215)1.82796991
127Colon cancer (HP:0003003)1.82780091
128Eczematoid dermatitis (HP:0000976)1.82416612
129Drooling (HP:0002307)1.82145427
130Acute encephalopathy (HP:0006846)1.81604734
131Abnormality of the prostate (HP:0008775)1.81148405
132Cutaneous melanoma (HP:0012056)1.80366806
133Increased muscle lipid content (HP:0009058)1.80343245
134Cone-rod dystrophy (HP:0000548)1.80287892
135Reduced subcutaneous adipose tissue (HP:0003758)1.80098806
136Central scotoma (HP:0000603)1.79328439
137Cerebral hemorrhage (HP:0001342)1.79295938
138Inflammation of the large intestine (HP:0002037)1.78976051
139Colitis (HP:0002583)1.78402765
140Abnormal mitochondria in muscle tissue (HP:0008316)1.77758685
141Gout (HP:0001997)1.77413276
142Exercise-induced myalgia (HP:0003738)1.77068545
143Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.76847937
144Increased mean platelet volume (HP:0011877)1.76491962
145Albinism (HP:0001022)1.75980469
146Aplasia/Hypoplasia of the tibia (HP:0005772)1.75807145
147Hypochromic microcytic anemia (HP:0004840)1.74971396
148Autoimmune thrombocytopenia (HP:0001973)1.74785778
149Polycythemia (HP:0001901)1.74324165
150Type I transferrin isoform profile (HP:0003642)1.73984544
151Nephronophthisis (HP:0000090)1.73232372
152Pancreatic cysts (HP:0001737)1.73226138
153Aplasia/Hypoplasia of the uvula (HP:0010293)1.72091402
154Decreased activity of mitochondrial respiratory chain (HP:0008972)1.71400937
155Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.71400937
156Areflexia of lower limbs (HP:0002522)1.71389428
157Reticulocytopenia (HP:0001896)1.71384611
158Poor eye contact (HP:0000817)1.70819574
159Neurodegeneration (HP:0002180)1.70104504
160Agammaglobulinemia (HP:0004432)1.69992065
161Respiratory difficulties (HP:0002880)1.68807552
162Excessive salivation (HP:0003781)1.67897561
163Hypoplasia of the fovea (HP:0007750)1.67710910
164Aplasia/Hypoplasia of the fovea (HP:0008060)1.67710910
165Recurrent skin infections (HP:0001581)1.67209514
166Cholelithiasis (HP:0001081)1.66950930
167Neutropenia (HP:0001875)1.66893807
168Oligodactyly (hands) (HP:0001180)1.66594660
169Abnormality of the renal medulla (HP:0100957)1.66509964
170Thrombophlebitis (HP:0004418)1.66437979
171Chromsome breakage (HP:0040012)1.66099752
172Generalized hypopigmentation of hair (HP:0011358)1.65578311
173Increased IgE level (HP:0003212)1.64984617
174Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.63824134
175Abnormal protein N-linked glycosylation (HP:0012347)1.63824134
176Abnormal protein glycosylation (HP:0012346)1.63824134
177Abnormal glycosylation (HP:0012345)1.63824134
178Congenital sensorineural hearing impairment (HP:0008527)1.62682297
179Type II lissencephaly (HP:0007260)1.62145936
180Thyroiditis (HP:0100646)1.61987285
181Nephrogenic diabetes insipidus (HP:0009806)1.61953273
182Mitochondrial inheritance (HP:0001427)1.61575892
183Intestinal atresia (HP:0011100)1.59011921
184Tubulointerstitial nephritis (HP:0001970)1.57349070
185Reduced antithrombin III activity (HP:0001976)1.57298104
186Neuroendocrine neoplasm (HP:0100634)1.56750344
187Attenuation of retinal blood vessels (HP:0007843)1.56306939
188Short tibia (HP:0005736)1.55782750

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K24.13156607
2ACVR1B3.83920597
3FRK3.60619561
4MAP4K13.44917972
5KIT2.87693098
6PNCK2.73687184
7FLT32.47689240
8TGFBR12.41014163
9MAP2K32.34178796
10TRIM282.26008659
11TAOK32.24564098
12TEC2.05386808
13BTK2.05002709
14TYK21.97026105
15ERBB31.87501962
16PINK11.82374384
17SYK1.81999004
18EEF2K1.80990452
19BCKDK1.78685519
20CSF1R1.78462926
21BCR1.77365500
22CCNB11.74613221
23ZAP701.74016975
24WEE11.72108381
25MAPK131.66990426
26CDC71.66012603
27PKN21.60730524
28MAP3K41.57629529
29GRK61.55669908
30TIE11.54720692
31MAP3K61.54677333
32JAK31.54185838
33TXK1.53799158
34GRK11.49859649
35NUAK11.48283040
36STK101.47522003
37SCYL21.42212721
38MST41.41479898
39EIF2AK11.40684076
40PHKG21.39489491
41PHKG11.39489491
42MAP3K121.38546581
43NEK11.38459036
44ITK1.35390708
45TGFBR21.31040025
46BMPR1B1.31008793
47PIM11.28983140
48BMPR21.28587034
49NLK1.27807970
50NME21.27143899
51VRK11.25809922
52AKT31.25779431
53IRAK41.25536828
54ZAK1.24497434
55MAP3K131.23071536
56TSSK61.22790798
57DAPK11.17187525
58TBK11.10629711
59BRSK21.08762838
60JAK11.08616880
61KDR1.08514489
62BLK1.08105134
63FES1.06867773
64IRAK11.04894691
65CASK1.01342225
66NEK91.00599442
67TNIK0.99405187
68INSRR0.97193658
69TRPM70.96969408
70PIK3CG0.93253212
71TLK10.92972864
72JAK20.90516295
73IKBKE0.90112381
74MATK0.89850925
75RPS6KA40.89731834
76MAP3K70.89626454
77YES10.89481048
78NEK20.88573382
79STK40.88137559
80OXSR10.87021469
81BRSK10.86447262
82IRAK20.85848228
83CDK190.85595916
84MKNK20.84431021
85LCK0.82143353
86KSR10.81284007
87LYN0.80900127
88OBSCN0.80804905
89RIPK40.80239024
90PTK2B0.76603452
91TNK20.75475686
92MAP2K60.74926845
93SIK30.74356972
94CDK90.72893190
95MAPK40.72468862
96MAPK110.72216599
97PLK40.69689247
98LRRK20.69311951
99PRKCE0.69261109
100MKNK10.69089793
101PDK10.69049009
102MINK10.68913220
103TTN0.67365733
104TTK0.66979844
105MAP3K50.65843386
106MARK30.64359443
107MAP3K140.64175010
108CDK40.63747866
109PLK20.63284508
110CSNK1G10.62841564
111ATR0.62753314
112MAPKAPK30.61949570
113RAF10.61777435
114ADRBK20.60185499
115CDK30.59971142
116STK390.59496971
117STK160.59485043
118RPS6KB20.57631341
119EPHA40.57609329
120GRK70.57539990
121MAP3K20.56614306
122SRPK10.56561748
123HCK0.55189665
124DYRK30.53241945
125STK240.52966377
126ERN10.51217253
127PAK30.50984803
128MAPK120.50788346
129SGK20.49944335
130SIK20.49584306
131CSNK1G20.49147417
132MUSK0.48554357
133ATM0.47446652
134MAP2K70.47079655
135PLK30.45948873
136FGFR40.45696684
137FGFR30.45407360
138FER0.45349860
139EIF2AK30.44301725
140STK38L0.44174586
141PRKACB0.43751178
142BRD40.43565784
143PIM20.43432659
144CSNK1G30.42641569
145SGK30.42047773
146RPS6KA50.41419026
147IKBKB0.40619681
148CSNK1A1L0.39489058
149MAP2K40.39124173
150AURKB0.38991367
151PRKAA20.37444429
152TAOK20.36730137
153DAPK20.36578247
154STK110.34552585
155CDK60.34340549
156MELK0.31965731
157WNK30.31417593
158RPS6KA60.31334550
159CAMKK20.30767603
160PASK0.30119181
161RPS6KB10.29997223

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.16019404
2DNA replication_Homo sapiens_hsa030303.83852359
3Protein export_Homo sapiens_hsa030603.60336763
4Fanconi anemia pathway_Homo sapiens_hsa034603.28401020
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.27043906
6Pantothenate and CoA biosynthesis_Homo sapiens_hsa007703.00526412
7Butanoate metabolism_Homo sapiens_hsa006502.88394625
8Mismatch repair_Homo sapiens_hsa034302.85341059
9Base excision repair_Homo sapiens_hsa034102.57907418
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.42095243
11Caffeine metabolism_Homo sapiens_hsa002322.26880484
12Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.19023391
13Primary immunodeficiency_Homo sapiens_hsa053402.09723094
14Regulation of autophagy_Homo sapiens_hsa041402.04394351
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.97353883
16B cell receptor signaling pathway_Homo sapiens_hsa046621.97139324
17Nitrogen metabolism_Homo sapiens_hsa009101.96545785
18Circadian rhythm_Homo sapiens_hsa047101.91600515
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.86774537
20Phototransduction_Homo sapiens_hsa047441.66816578
21Basal transcription factors_Homo sapiens_hsa030221.62516326
22Fatty acid degradation_Homo sapiens_hsa000711.57481600
23Non-homologous end-joining_Homo sapiens_hsa034501.55475781
24Propanoate metabolism_Homo sapiens_hsa006401.54097113
25One carbon pool by folate_Homo sapiens_hsa006701.53945410
26Homologous recombination_Homo sapiens_hsa034401.53886922
27Pentose phosphate pathway_Homo sapiens_hsa000301.53388212
28Hematopoietic cell lineage_Homo sapiens_hsa046401.52746433
29Carbon metabolism_Homo sapiens_hsa012001.51276419
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.46718546
31Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.38806051
32Intestinal immune network for IgA production_Homo sapiens_hsa046721.37136558
33Oxidative phosphorylation_Homo sapiens_hsa001901.36666635
34Systemic lupus erythematosus_Homo sapiens_hsa053221.36575443
35Measles_Homo sapiens_hsa051621.36065704
36Selenocompound metabolism_Homo sapiens_hsa004501.35422223
37Dorso-ventral axis formation_Homo sapiens_hsa043201.32997652
38Leishmaniasis_Homo sapiens_hsa051401.30571958
39Antigen processing and presentation_Homo sapiens_hsa046121.30456564
40Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.29989397
41Pyrimidine metabolism_Homo sapiens_hsa002401.27725558
42Herpes simplex infection_Homo sapiens_hsa051681.26023098
43N-Glycan biosynthesis_Homo sapiens_hsa005101.25041372
44Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.24680640
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.23538466
46Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.21428912
47Nucleotide excision repair_Homo sapiens_hsa034201.20437414
48Osteoclast differentiation_Homo sapiens_hsa043801.18807136
49RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.18742658
50Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.14808853
51Ribosome_Homo sapiens_hsa030101.14394694
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.14133776
53ABC transporters_Homo sapiens_hsa020101.12826728
54Parkinsons disease_Homo sapiens_hsa050121.12645245
55Drug metabolism - other enzymes_Homo sapiens_hsa009831.09596915
56Pyruvate metabolism_Homo sapiens_hsa006201.07978496
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.07776163
58Cell cycle_Homo sapiens_hsa041101.06791803
59Biosynthesis of amino acids_Homo sapiens_hsa012301.06506066
60Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.05777179
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04221327
62Oocyte meiosis_Homo sapiens_hsa041141.03144151
63Viral myocarditis_Homo sapiens_hsa054161.00855598
64Peroxisome_Homo sapiens_hsa041460.99419345
65Platelet activation_Homo sapiens_hsa046110.99124833
66Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.97792748
67RNA degradation_Homo sapiens_hsa030180.96509809
68Staphylococcus aureus infection_Homo sapiens_hsa051500.93292494
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.92076744
70RNA polymerase_Homo sapiens_hsa030200.89957731
71Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.89094737
72Acute myeloid leukemia_Homo sapiens_hsa052210.88995531
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87273773
74Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.86470749
75Olfactory transduction_Homo sapiens_hsa047400.85729578
76Primary bile acid biosynthesis_Homo sapiens_hsa001200.85421766
77Long-term depression_Homo sapiens_hsa047300.83364646
78Starch and sucrose metabolism_Homo sapiens_hsa005000.82900844
79Hepatitis B_Homo sapiens_hsa051610.82519685
80NF-kappa B signaling pathway_Homo sapiens_hsa040640.81143034
81Folate biosynthesis_Homo sapiens_hsa007900.80754289
82Non-small cell lung cancer_Homo sapiens_hsa052230.80372312
83Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.80259105
84Asthma_Homo sapiens_hsa053100.79709128
85Toll-like receptor signaling pathway_Homo sapiens_hsa046200.79207214
86Influenza A_Homo sapiens_hsa051640.78718785
87T cell receptor signaling pathway_Homo sapiens_hsa046600.76249191
88Type I diabetes mellitus_Homo sapiens_hsa049400.75803664
89Nicotine addiction_Homo sapiens_hsa050330.74802535
90Steroid hormone biosynthesis_Homo sapiens_hsa001400.73792910
91Ether lipid metabolism_Homo sapiens_hsa005650.73283888
92NOD-like receptor signaling pathway_Homo sapiens_hsa046210.72225378
93Alzheimers disease_Homo sapiens_hsa050100.72167713
94Insulin resistance_Homo sapiens_hsa049310.71641358
95Jak-STAT signaling pathway_Homo sapiens_hsa046300.71492807
96Legionellosis_Homo sapiens_hsa051340.70764196
97Sulfur metabolism_Homo sapiens_hsa009200.69649158
98Fatty acid metabolism_Homo sapiens_hsa012120.69554415
99Purine metabolism_Homo sapiens_hsa002300.69099120
100Salivary secretion_Homo sapiens_hsa049700.68350827
101Viral carcinogenesis_Homo sapiens_hsa052030.67791516
102RNA transport_Homo sapiens_hsa030130.67286103
103Epstein-Barr virus infection_Homo sapiens_hsa051690.66162922
104Other glycan degradation_Homo sapiens_hsa005110.65127092
105Taste transduction_Homo sapiens_hsa047420.64478147
106Toxoplasmosis_Homo sapiens_hsa051450.63771772
107Spliceosome_Homo sapiens_hsa030400.62850623
108Alcoholism_Homo sapiens_hsa050340.62621703
109Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62598152
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60648929
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59642223
112Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59054995
113Adipocytokine signaling pathway_Homo sapiens_hsa049200.58867455
114Serotonergic synapse_Homo sapiens_hsa047260.58820850
115FoxO signaling pathway_Homo sapiens_hsa040680.58733741
116Renin secretion_Homo sapiens_hsa049240.58460633
117Allograft rejection_Homo sapiens_hsa053300.58268117
118SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57988404
119Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.57843267
120Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.57741032
121Pancreatic cancer_Homo sapiens_hsa052120.56911407
122Glucagon signaling pathway_Homo sapiens_hsa049220.56827521
123Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.56594953
124Tuberculosis_Homo sapiens_hsa051520.56497217
125Apoptosis_Homo sapiens_hsa042100.56234752
126Transcriptional misregulation in cancer_Homo sapiens_hsa052020.56228573
127Tryptophan metabolism_Homo sapiens_hsa003800.55763973
128Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55395169
129Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54350332
130Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.54182909
131Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53267984
132Shigellosis_Homo sapiens_hsa051310.51362412
133PPAR signaling pathway_Homo sapiens_hsa033200.50961397
134Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49938112
135Galactose metabolism_Homo sapiens_hsa000520.49834633
136Cyanoamino acid metabolism_Homo sapiens_hsa004600.49257759
137Dopaminergic synapse_Homo sapiens_hsa047280.49128327
138Proteasome_Homo sapiens_hsa030500.49000751
139Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.48418658
140beta-Alanine metabolism_Homo sapiens_hsa004100.47542766
141Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47112329
142Pertussis_Homo sapiens_hsa051330.45841642
143Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.45776848
144Circadian entrainment_Homo sapiens_hsa047130.38773573
145Huntingtons disease_Homo sapiens_hsa050160.38686224
146Lysine degradation_Homo sapiens_hsa003100.37548467
147Calcium signaling pathway_Homo sapiens_hsa040200.37102883
148Pancreatic secretion_Homo sapiens_hsa049720.36383287
149Fatty acid biosynthesis_Homo sapiens_hsa000610.35771194
150TGF-beta signaling pathway_Homo sapiens_hsa043500.35658930
151Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33397128
152Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.33177895
153Type II diabetes mellitus_Homo sapiens_hsa049300.32209459
154Metabolic pathways_Homo sapiens_hsa011000.31859404
155Amphetamine addiction_Homo sapiens_hsa050310.31556467
156Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.30878428
157Cardiac muscle contraction_Homo sapiens_hsa042600.30219413

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