RAD54L

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 DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)5.72981502
2DNA strand elongation (GO:0022616)5.46479740
3telomere maintenance via semi-conservative replication (GO:0032201)5.46435490
4DNA replication initiation (GO:0006270)5.31814336
5DNA unwinding involved in DNA replication (GO:0006268)5.30472379
6telomere maintenance via recombination (GO:0000722)5.01461289
7DNA replication checkpoint (GO:0000076)4.96442248
8mitotic recombination (GO:0006312)4.88559072
9protein localization to kinetochore (GO:0034501)4.61990055
10kinetochore organization (GO:0051383)4.42942078
11CENP-A containing nucleosome assembly (GO:0034080)4.41543563
12chromatin remodeling at centromere (GO:0031055)4.38261120
13telomere maintenance via telomere lengthening (GO:0010833)4.37803857
14establishment of integrated proviral latency (GO:0075713)4.33668844
15nucleotide-excision repair, DNA gap filling (GO:0006297)4.29301178
16mitotic metaphase plate congression (GO:0007080)4.19382747
17nucleobase biosynthetic process (GO:0046112)4.08954719
18regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.03291355
19chromosome condensation (GO:0030261)4.01528709
20DNA replication-independent nucleosome assembly (GO:0006336)4.01001001
21DNA replication-independent nucleosome organization (GO:0034724)4.01001001
22DNA replication-dependent nucleosome assembly (GO:0006335)4.00942174
23DNA replication-dependent nucleosome organization (GO:0034723)4.00942174
24kinetochore assembly (GO:0051382)3.97773580
25protein localization to chromosome, centromeric region (GO:0071459)3.94270333
26mitotic sister chromatid segregation (GO:0000070)3.93545044
27purine nucleobase biosynthetic process (GO:0009113)3.88956168
28mitotic chromosome condensation (GO:0007076)3.88857121
29IMP biosynthetic process (GO:0006188)3.85504501
30mitotic nuclear envelope disassembly (GO:0007077)3.85400578
31metaphase plate congression (GO:0051310)3.81679147
32heterochromatin organization (GO:0070828)3.80669220
33nuclear pore organization (GO:0006999)3.75304370
34meiotic chromosome segregation (GO:0045132)3.72280987
35regulation of translational fidelity (GO:0006450)3.67538289
36sister chromatid segregation (GO:0000819)3.66962488
37negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.66115342
38histone exchange (GO:0043486)3.64861806
39nuclear pore complex assembly (GO:0051292)3.63298622
40attachment of spindle microtubules to kinetochore (GO:0008608)3.59203531
41ribosomal small subunit assembly (GO:0000028)3.59175796
42DNA packaging (GO:0006323)3.57026954
43L-serine metabolic process (GO:0006563)3.55957324
44nuclear envelope disassembly (GO:0051081)3.52918154
45membrane disassembly (GO:0030397)3.52918154
46DNA geometric change (GO:0032392)3.51575705
47maturation of SSU-rRNA (GO:0030490)3.51550613
48regulation of double-strand break repair via homologous recombination (GO:0010569)3.50985508
49establishment of chromosome localization (GO:0051303)3.50918739
50DNA duplex unwinding (GO:0032508)3.49603117
51telomere maintenance (GO:0000723)3.46725185
52telomere organization (GO:0032200)3.45992462
53folic acid-containing compound biosynthetic process (GO:0009396)3.45614914
54mismatch repair (GO:0006298)3.41427879
55negative regulation of mRNA processing (GO:0050686)3.39357946
56regulation of spindle organization (GO:0090224)3.38814045
57maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.36182431
58non-recombinational repair (GO:0000726)3.33440170
59double-strand break repair via nonhomologous end joining (GO:0006303)3.33440170
60translesion synthesis (GO:0019985)3.30732834
61IMP metabolic process (GO:0046040)3.28875994
62ribosome assembly (GO:0042255)3.28585780
63transcription-coupled nucleotide-excision repair (GO:0006283)3.27266036
64somatic diversification of immune receptors via somatic mutation (GO:0002566)3.24859205
65somatic hypermutation of immunoglobulin genes (GO:0016446)3.24859205
66formation of translation preinitiation complex (GO:0001731)3.23090074
67protein complex localization (GO:0031503)3.22974711
68regulation of sister chromatid cohesion (GO:0007063)3.22604657
69regulation of centriole replication (GO:0046599)3.22264587
70establishment of viral latency (GO:0019043)3.18262994
71regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.16784293
72chromatin assembly or disassembly (GO:0006333)3.15507864
73negative regulation of RNA splicing (GO:0033119)3.14585146
74spindle checkpoint (GO:0031577)3.14086332
75ribosomal large subunit biogenesis (GO:0042273)3.13546724
76regulation of nuclear cell cycle DNA replication (GO:0033262)3.13525033
77DNA replication (GO:0006260)3.12575975
78negative regulation of mRNA metabolic process (GO:1903312)3.11828470
79ATP-dependent chromatin remodeling (GO:0043044)3.11637663
80DNA ligation (GO:0006266)3.10961303
81regulation of mitotic sister chromatid separation (GO:0010965)3.09966362
82regulation of mitotic sister chromatid segregation (GO:0033047)3.09966362
83regulation of sister chromatid segregation (GO:0033045)3.09966362
84regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.09889581
85DNA conformation change (GO:0071103)3.07846852
86regulation of mitotic spindle organization (GO:0060236)3.07142708
87chromosome segregation (GO:0007059)3.06671179
88postreplication repair (GO:0006301)3.06053782
89deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.05584411
90base-excision repair (GO:0006284)3.05385201
91spliceosomal snRNP assembly (GO:0000387)3.05363643
92negative regulation of chromosome segregation (GO:0051985)3.03524117
93deoxyribonucleotide biosynthetic process (GO:0009263)3.03514771
94positive regulation of chromosome segregation (GO:0051984)3.03325894
95regulation of chromosome segregation (GO:0051983)3.02929444
96DNA topological change (GO:0006265)3.02497706
97protein K6-linked ubiquitination (GO:0085020)3.02235530
98negative regulation of mitotic sister chromatid separation (GO:2000816)3.01767396
99negative regulation of mitotic sister chromatid segregation (GO:0033048)3.01767396
100negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.01767396
101negative regulation of sister chromatid segregation (GO:0033046)3.01767396
102spindle assembly checkpoint (GO:0071173)3.01284714
103regulation of mitotic metaphase/anaphase transition (GO:0030071)3.00193751
104regulation of centrosome cycle (GO:0046605)2.99169653
105intra-S DNA damage checkpoint (GO:0031573)2.97164353
106pore complex assembly (GO:0046931)2.96754607
107replication fork processing (GO:0031297)2.95640707
108mitotic cell cycle (GO:0000278)2.95167199
109DNA synthesis involved in DNA repair (GO:0000731)2.95130608
110DNA deamination (GO:0045006)2.95052098
111ribonucleoprotein complex biogenesis (GO:0022613)2.94361402
112regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.94251436
113mitotic sister chromatid cohesion (GO:0007064)2.94233162
114negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.94031058
115mitotic spindle assembly checkpoint (GO:0007094)2.93180517
116mitotic spindle checkpoint (GO:0071174)2.91450386
117ribosome biogenesis (GO:0042254)2.90921399
118negative regulation of DNA-dependent DNA replication (GO:2000104)2.90391202
119protein localization to chromosome (GO:0034502)2.89952088
120rRNA processing (GO:0006364)2.89440244
121viral mRNA export from host cell nucleus (GO:0046784)2.89431008

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human4.91912925
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.48679517
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.06847916
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.73078731
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.18264953
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.13586190
7EST1_17652178_ChIP-ChIP_JURKAT_Human2.81673337
8MYC_19079543_ChIP-ChIP_MESCs_Mouse2.79709846
9MYC_19030024_ChIP-ChIP_MESCs_Mouse2.73681040
10* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.62862811
11GABP_17652178_ChIP-ChIP_JURKAT_Human2.53483388
12* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.45513633
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.44879584
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.40605407
15E2F1_21310950_ChIP-Seq_MCF-7_Human2.37681744
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.33017820
17AR_21909140_ChIP-Seq_LNCAP_Human2.30743700
18* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.23534036
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.18523987
20* XRN2_22483619_ChIP-Seq_HELA_Human2.17387561
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.16398942
22MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.12504483
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.10098806
24* VDR_23849224_ChIP-Seq_CD4+_Human2.07656578
25* E2F7_22180533_ChIP-Seq_HELA_Human11.3318614
26KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.99164249
27MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.97046160
28ELF1_17652178_ChIP-ChIP_JURKAT_Human1.96655393
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.95837128
30* FOXP3_21729870_ChIP-Seq_TREG_Human1.90155836
31NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.88025141
32E2F1_18555785_ChIP-Seq_MESCs_Mouse1.83403195
33* TTF2_22483619_ChIP-Seq_HELA_Human1.83344432
34MYCN_18555785_ChIP-Seq_MESCs_Mouse1.81647094
35* DCP1A_22483619_ChIP-Seq_HELA_Human1.79935365
36E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.76465219
37ELK1_19687146_ChIP-ChIP_HELA_Human1.73649868
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.70080552
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.67305226
40* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.67187786
41CIITA_25753668_ChIP-Seq_RAJI_Human1.66853699
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66493180
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.65943774
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65260195
45GABP_19822575_ChIP-Seq_HepG2_Human1.64871575
46TP63_19390658_ChIP-ChIP_HaCaT_Human1.59122603
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.58487786
48* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.54568388
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.52697491
50YY1_21170310_ChIP-Seq_MESCs_Mouse1.47881574
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.44259532
52TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.42337542
53CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.37990938
54ZFX_18555785_ChIP-Seq_MESCs_Mouse1.35009187
55KDM5A_27292631_Chip-Seq_BREAST_Human1.34430016
56ESR1_15608294_ChIP-ChIP_MCF-7_Human1.33641344
57HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.31886948
58MYC_22102868_ChIP-Seq_BL_Human1.29880190
59SRF_21415370_ChIP-Seq_HL-1_Mouse1.27056520
60ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24926726
61SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.23423507
62CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20992619
63POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.20294983
64* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.20267348
65ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.20068562
66PADI4_21655091_ChIP-ChIP_MCF-7_Human1.18739947
67SOX2_18555785_ChIP-Seq_MESCs_Mouse1.17425707
68FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.11057212
69SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.08665215
70SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.08417500
71MYC_18940864_ChIP-ChIP_HL60_Human1.07721142
72KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.05455455
73TFEB_21752829_ChIP-Seq_HELA_Human1.04912768
74RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02931186
75NOTCH1_21737748_ChIP-Seq_TLL_Human1.01734896
76* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97383065
77* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.95616624
78ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95202174
79GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.94565542
80VDR_21846776_ChIP-Seq_THP-1_Human0.92297999
81ZNF263_19887448_ChIP-Seq_K562_Human0.91848575
82SPI1_23547873_ChIP-Seq_NB4_Human0.91641436
83DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.89709853
84CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89028999
85CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.86783572
86SALL1_21062744_ChIP-ChIP_HESCs_Human0.86705242
87CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.86371720
88* SOX17_20123909_ChIP-Seq_XEN_Mouse0.86094366
89STAT3_1855785_ChIP-Seq_MESCs_Mouse0.85837652
90DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.85104681
91POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.84229195
92CHD1_26751641_Chip-Seq_LNCaP_Human0.84086914
93PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.82382442
94CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.79687731
95HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.77541133
96TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.77197224
97BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.76795285
98SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.76190454
99NANOG_21062744_ChIP-ChIP_HESCs_Human0.73705397
100CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.73634520
101CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.73467306
102CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.72713651
103TBX5_21415370_ChIP-Seq_HL-1_Mouse0.70012133
104SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.69721504
105KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.69297893
106ELK1_22589737_ChIP-Seq_MCF10A_Human0.68613479
107TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.68329119
108NANOG_16153702_ChIP-ChIP_HESCs_Human0.64972977
109IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.64963880
110TCF3_18692474_ChIP-Seq_MEFs_Mouse0.64358751
111* NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.63454083
112PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.63073412
113SOX2_16153702_ChIP-ChIP_HESCs_Human0.62247859

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.24458951
2MP0003693_abnormal_embryo_hatching5.10164311
3MP0008057_abnormal_DNA_replication4.85473897
4* MP0003111_abnormal_nucleus_morphology4.66103371
5MP0003077_abnormal_cell_cycle4.06194043
6MP0004957_abnormal_blastocyst_morpholog3.95499882
7MP0008058_abnormal_DNA_repair3.53524797
8MP0008007_abnormal_cellular_replicative2.95738464
9MP0008932_abnormal_embryonic_tissue2.75374244
10MP0008877_abnormal_DNA_methylation2.54772368
11MP0002396_abnormal_hematopoietic_system2.37502159
12MP0003123_paternal_imprinting2.26124645
13MP0000350_abnormal_cell_proliferation2.19670062
14MP0001730_embryonic_growth_arrest2.07480094
15MP0003786_premature_aging1.89834392
16MP0000490_abnormal_crypts_of1.80575896
17MP0010307_abnormal_tumor_latency1.69243438
18MP0006292_abnormal_olfactory_placode1.67896818
19MP0003121_genomic_imprinting1.65579753
20MP0001672_abnormal_embryogenesis/_devel1.63741456
21MP0005380_embryogenesis_phenotype1.63741456
22MP0010352_gastrointestinal_tract_polyps1.59154476
23MP0001346_abnormal_lacrimal_gland1.56530581
24MP0001697_abnormal_embryo_size1.55991836
25MP0004808_abnormal_hematopoietic_stem1.52690633
26MP0000313_abnormal_cell_death1.48685275
27MP0002085_abnormal_embryonic_tissue1.48007765
28MP0003984_embryonic_growth_retardation1.43894448
29MP0002080_prenatal_lethality1.43005459
30MP0002088_abnormal_embryonic_growth/wei1.40563576
31MP0002019_abnormal_tumor_incidence1.38596858
32MP0002210_abnormal_sex_determination1.33988554
33MP0003890_abnormal_embryonic-extraembry1.32526915
34MP0003315_abnormal_perineum_morphology1.31922957
35MP0002084_abnormal_developmental_patter1.29227268
36MP0002697_abnormal_eye_size1.29167882
37MP0003718_maternal_effect1.23324733
38MP0005076_abnormal_cell_differentiation1.22516548
39MP0004233_abnormal_muscle_weight1.21378890
40MP0003567_abnormal_fetal_cardiomyocyte1.19578318
41MP0003806_abnormal_nucleotide_metabolis1.18644158
42MP0006035_abnormal_mitochondrial_morpho1.18578465
43MP0004197_abnormal_fetal_growth/weight/1.16506397
44MP0001293_anophthalmia1.15104759
45MP0002086_abnormal_extraembryonic_tissu1.14555873
46MP0000703_abnormal_thymus_morphology1.13825727
47MP0002653_abnormal_ependyma_morphology1.11032572
48MP0004185_abnormal_adipocyte_glucose1.09490482
49MP0001545_abnormal_hematopoietic_system1.09249573
50MP0005397_hematopoietic_system_phenotyp1.09249573
51MP0002398_abnormal_bone_marrow1.08995822
52MP0003763_abnormal_thymus_physiology1.07436780
53MP0001145_abnormal_male_reproductive1.07236764
54MP0005174_abnormal_tail_pigmentation1.04444914
55MP0009333_abnormal_splenocyte_physiolog1.04134882
56MP0001661_extended_life_span1.03781446
57MP0010030_abnormal_orbit_morphology1.02631091
58MP0002160_abnormal_reproductive_system1.01616575
59MP0002163_abnormal_gland_morphology1.00970768
60MP0000358_abnormal_cell_content/1.00927668
61MP0003705_abnormal_hypodermis_morpholog0.98072048
62MP0002877_abnormal_melanocyte_morpholog0.97974466
63MP0002722_abnormal_immune_system0.96008780
64MP0001929_abnormal_gametogenesis0.94619846
65MP0001119_abnormal_female_reproductive0.92681976
66MP0000689_abnormal_spleen_morphology0.92342240
67MP0003937_abnormal_limbs/digits/tail_de0.91830342
68MP0008995_early_reproductive_senescence0.91122993
69MP0000653_abnormal_sex_gland0.90787901
70MP0000858_altered_metastatic_potential0.90743607
71MP0008789_abnormal_olfactory_epithelium0.90653315
72MP0003941_abnormal_skin_development0.90257386
73MP0000015_abnormal_ear_pigmentation0.85736617
74MP0002095_abnormal_skin_pigmentation0.85555744
75MP0005075_abnormal_melanosome_morpholog0.85372110
76MP0002938_white_spotting0.84594688
77MP0002092_abnormal_eye_morphology0.83169610
78* MP0002429_abnormal_blood_cell0.82814605
79MP0009672_abnormal_birth_weight0.82290091
80MP0000372_irregular_coat_pigmentation0.81626667
81MP0000566_synostosis0.81427072
82MP0005389_reproductive_system_phenotype0.81048992
83MP0003861_abnormal_nervous_system0.80803949
84MP0005501_abnormal_skin_physiology0.80103791
85MP0000049_abnormal_middle_ear0.79664067
86MP0009053_abnormal_anal_canal0.79459994
87MP0006054_spinal_hemorrhage0.78248783
88MP0002111_abnormal_tail_morphology0.76747429
89MP0003119_abnormal_digestive_system0.76428952
90MP0004147_increased_porphyrin_level0.76226737
91MP0000569_abnormal_digit_pigmentation0.75435245
92MP0004133_heterotaxia0.75009238
93MP0001286_abnormal_eye_development0.73419491
94MP0009278_abnormal_bone_marrow0.72425647
95MP0000678_abnormal_parathyroid_gland0.71696006
96MP0009703_decreased_birth_body0.71579684
97MP0002075_abnormal_coat/hair_pigmentati0.71535485
98MP0002102_abnormal_ear_morphology0.71494299
99* MP0005384_cellular_phenotype0.70707485
100MP0000716_abnormal_immune_system0.70315923
101MP0006036_abnormal_mitochondrial_physio0.70168484
102MP0003699_abnormal_female_reproductive0.69102817
103MP0002161_abnormal_fertility/fecundity0.68239669
104MP0003698_abnormal_male_reproductive0.67921467
105MP0005451_abnormal_body_composition0.67493185
106MP0001915_intracranial_hemorrhage0.67328910
107* MP0005621_abnormal_cell_physiology0.66612398
108MP0000537_abnormal_urethra_morphology0.66532318
109MP0002233_abnormal_nose_morphology0.65767893
110MP0003942_abnormal_urinary_system0.64355856
111MP0003935_abnormal_craniofacial_develop0.63909798
112MP0003943_abnormal_hepatobiliary_system0.63305402
113MP0001881_abnormal_mammary_gland0.63202206
114MP0002751_abnormal_autonomic_nervous0.63067163
115MP0001919_abnormal_reproductive_system0.62373449
116MP0001186_pigmentation_phenotype0.62254543
117MP0000428_abnormal_craniofacial_morphol0.62113499
118MP0002249_abnormal_larynx_morphology0.61416774
119MP0009697_abnormal_copulation0.61317109
120MP0005394_taste/olfaction_phenotype0.61034120
121MP0005499_abnormal_olfactory_system0.61034120
122MP0003136_yellow_coat_color0.60674335
123MP0003755_abnormal_palate_morphology0.60392644
124MP0001800_abnormal_humoral_immune0.59824574
125MP0003385_abnormal_body_wall0.59739613
126MP0003787_abnormal_imprinting0.59210419
127MP0002132_abnormal_respiratory_system0.57750122
128MP0000432_abnormal_head_morphology0.57657614
129MP0002420_abnormal_adaptive_immunity0.56950367
130MP0001849_ear_inflammation0.56268075
131MP0001819_abnormal_immune_cell0.55848903
132MP0002452_abnormal_antigen_presenting0.55816282
133MP0003938_abnormal_ear_development0.55616611
134MP0000647_abnormal_sebaceous_gland0.54413254
135MP0003115_abnormal_respiratory_system0.54260355
136MP0002796_impaired_skin_barrier0.53941159
137MP0003186_abnormal_redox_activity0.52997183

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)5.39391380
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.25454324
3Birth length less than 3rd percentile (HP:0003561)4.91576211
4Reticulocytopenia (HP:0001896)4.17412166
5Abnormality of chromosome stability (HP:0003220)3.95745173
6Meckel diverticulum (HP:0002245)3.83717019
7Abnormality of the preputium (HP:0100587)3.77112867
8Aplasia/Hypoplasia of the uvula (HP:0010293)3.69851042
9Abnormality of the ileum (HP:0001549)3.64059911
10Patellar aplasia (HP:0006443)3.48566855
11Breast hypoplasia (HP:0003187)3.32695496
12Aplasia/Hypoplasia of the patella (HP:0006498)3.29665073
13Ectopic kidney (HP:0000086)3.26046235
14Duplicated collecting system (HP:0000081)3.09845432
15Impulsivity (HP:0100710)3.07260074
16Medulloblastoma (HP:0002885)3.07219338
17Small intestinal stenosis (HP:0012848)3.06876369
18Duodenal stenosis (HP:0100867)3.06876369
19Abnormality of cochlea (HP:0000375)2.98057721
20Oral leukoplakia (HP:0002745)2.94275900
21Myelodysplasia (HP:0002863)2.93592624
22Agnosia (HP:0010524)2.92407257
23Bone marrow hypocellularity (HP:0005528)2.89016022
24Abnormality of the renal collecting system (HP:0004742)2.86048925
25Absent thumb (HP:0009777)2.84022390
26Colon cancer (HP:0003003)2.82440713
27Absent radius (HP:0003974)2.81959510
28Multiple enchondromatosis (HP:0005701)2.79988310
29Microvesicular hepatic steatosis (HP:0001414)2.78341869
30Abnormality of cells of the erythroid lineage (HP:0012130)2.78091540
31Abnormal number of erythroid precursors (HP:0012131)2.73477268
32Abnormality of glycolysis (HP:0004366)2.71998192
33Selective tooth agenesis (HP:0001592)2.71870988
34Ependymoma (HP:0002888)2.64128918
35Absent forearm bone (HP:0003953)2.63353178
36Aplasia involving forearm bones (HP:0009822)2.63353178
37Hypoplasia of the capital femoral epiphysis (HP:0003090)2.63057754
38Abnormality of the anterior horn cell (HP:0006802)2.62987887
39Degeneration of anterior horn cells (HP:0002398)2.62987887
40Sloping forehead (HP:0000340)2.56148080
4111 pairs of ribs (HP:0000878)2.56100296
42Abnormal number of incisors (HP:0011064)2.55933118
43Abnormality of the carotid arteries (HP:0005344)2.55823924
44Triphalangeal thumb (HP:0001199)2.53685914
45Carpal bone hypoplasia (HP:0001498)2.53207849
46Aplastic anemia (HP:0001915)2.51934478
47Clubbing of toes (HP:0100760)2.51892285
48Cortical dysplasia (HP:0002539)2.51460926
49Rough bone trabeculation (HP:0100670)2.50138090
50Abnormal lung lobation (HP:0002101)2.49162832
51Abnormality of the duodenum (HP:0002246)2.49044910
52Premature graying of hair (HP:0002216)2.48144066
53Horseshoe kidney (HP:0000085)2.45777740
54Abnormality of DNA repair (HP:0003254)2.44886370
55Abnormality of the labia minora (HP:0012880)2.38125918
56Pallor (HP:0000980)2.37709785
57Tracheoesophageal fistula (HP:0002575)2.37675940
58Cholecystitis (HP:0001082)2.37235833
59Abnormal gallbladder physiology (HP:0012438)2.37235833
60Rhabdomyosarcoma (HP:0002859)2.34396328
61High anterior hairline (HP:0009890)2.31161369
62Morphological abnormality of the inner ear (HP:0011390)2.26772595
63Neoplasm of the pancreas (HP:0002894)2.24191178
64Short thumb (HP:0009778)2.24122780
65Increased serum pyruvate (HP:0003542)2.23881358
66Nephroblastoma (Wilms tumor) (HP:0002667)2.23657189
67Progressive muscle weakness (HP:0003323)2.22048901
68Choanal atresia (HP:0000453)2.19517285
69Aplasia/Hypoplasia of the sacrum (HP:0008517)2.17424438
70Increased nuchal translucency (HP:0010880)2.15173247
71Cellular immunodeficiency (HP:0005374)2.12645895
72Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.12168417
73Absent epiphyses (HP:0010577)2.12168417
74Embryonal renal neoplasm (HP:0011794)2.11957957
75Broad distal phalanx of finger (HP:0009836)2.10779615
76Abnormality of reticulocytes (HP:0004312)2.10567576
77Macrocytic anemia (HP:0001972)2.05549162
78Cerebral hypomyelination (HP:0006808)2.04839674
79Atresia of the external auditory canal (HP:0000413)2.04190260
80Supernumerary spleens (HP:0009799)2.03608889
81Cafe-au-lait spot (HP:0000957)2.00532754
82Squamous cell carcinoma (HP:0002860)2.00156831
83Embryonal neoplasm (HP:0002898)1.96611042
84* Lymphoma (HP:0002665)1.95477993
85Irregular epiphyses (HP:0010582)1.92370578
86Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.91394434
87Abnormal trabecular bone morphology (HP:0100671)1.88879407
88Cleft eyelid (HP:0000625)1.87995993
89Proximal placement of thumb (HP:0009623)1.86867834
90Basal cell carcinoma (HP:0002671)1.84331645
91Pancytopenia (HP:0001876)1.84206798
92Prominent nose (HP:0000448)1.82563677
93Volvulus (HP:0002580)1.81759982
94Aplasia/Hypoplasia of the sternum (HP:0006714)1.81582527
95Abnormality of chromosome segregation (HP:0002916)1.80820763
96Facial cleft (HP:0002006)1.80444762
97IgM deficiency (HP:0002850)1.79986540
98Premature ovarian failure (HP:0008209)1.79744945
99High pitched voice (HP:0001620)1.78239094
100Deviation of the thumb (HP:0009603)1.77748643
101Progressive external ophthalmoplegia (HP:0000590)1.75827843
102Overlapping toe (HP:0001845)1.75782997
103Abnormality of the fetal cardiovascular system (HP:0010948)1.74247272
104Abnormal umbilical cord blood vessels (HP:0011403)1.74247272
105Single umbilical artery (HP:0001195)1.74247272
106Amaurosis fugax (HP:0100576)1.74224752
107Ureteral duplication (HP:0000073)1.72803593
108Glioma (HP:0009733)1.72648117
109Hypoplastic pelvis (HP:0008839)1.71940958
110Secondary amenorrhea (HP:0000869)1.71543118
111Rectal fistula (HP:0100590)1.71461956
112Rectovaginal fistula (HP:0000143)1.71461956
113Duplication of thumb phalanx (HP:0009942)1.70333048
114Abnormality of homocysteine metabolism (HP:0010919)1.69934365
115Homocystinuria (HP:0002156)1.69934365
116Facial hemangioma (HP:0000329)1.69606782
117Slender long bone (HP:0003100)1.68508631
118Abnormality of pyrimidine metabolism (HP:0004353)1.68507051
119Short middle phalanx of the 5th finger (HP:0004220)1.68173550
120Aplasia/Hypoplasia of the earlobes (HP:0009906)1.67757357
121Optic nerve coloboma (HP:0000588)1.67507332
122Abdominal situs inversus (HP:0003363)1.67477166
123Abnormality of abdominal situs (HP:0011620)1.67477166
124Missing ribs (HP:0000921)1.67200628
125Intestinal fistula (HP:0100819)1.66228376
126Overriding aorta (HP:0002623)1.64823725
127Hyperacusis (HP:0010780)1.64480603
128Leukopenia (HP:0001882)1.64000940
129Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.63496338
130Short 4th metacarpal (HP:0010044)1.63496338
131Long eyelashes (HP:0000527)1.63226733
132Microretrognathia (HP:0000308)1.62803934
133Arteriovenous malformation (HP:0100026)1.62730859
134Neoplasm of striated muscle (HP:0009728)1.61986652

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.18763096
2WEE14.47071606
3BUB13.78928862
4EIF2AK13.76866306
5SRPK13.23040980
6VRK23.08711938
7NEK22.67623494
8BRSK22.50420989
9SMG12.49775509
10TTK2.49145655
11TLK12.44162609
12MKNK12.35852264
13PLK12.14922074
14ATR2.04765361
15PLK42.03752882
16ACVR1B2.02266191
17VRK11.99589935
18MKNK21.96498479
19TSSK61.87385848
20CDK71.86492685
21PASK1.83879382
22PLK31.79475076
23STK161.79176086
24AURKB1.74377084
25EIF2AK31.71699831
26BRSK11.61232900
27CCNB11.59171119
28CDK121.56906651
29NME21.53837611
30CHEK21.53188149
31NEK11.51435079
32TAF11.50329918
33ZAK1.45280454
34DYRK31.38912684
35EIF2AK21.38061540
36CLK11.32588980
37STK41.31910429
38CHEK11.25894288
39CDK81.25248766
40NME11.24666130
41CDK41.24249973
42AURKA1.23682226
43TRIM281.21458426
44TESK21.21015075
45RPS6KB21.19994889
46ICK1.17969406
47RPS6KA41.14955863
48MAP3K81.12885941
49STK101.06637469
50ATM1.05663661
51PBK1.01180196
52BRD40.95001590
53CDK20.91026672
54SCYL20.89280080
55MELK0.86977993
56TGFBR10.86036497
57PIM10.81525224
58PDK20.75594763
59YES10.74676277
60CDK10.73700283
61MAP2K30.72319500
62IRAK40.71480682
63TRIB30.71225195
64CSNK2A10.68908367
65STK30.67365120
66PAK40.67043883
67CSNK2A20.63817640
68STK38L0.61499525
69RPS6KA50.59630417
70BRAF0.58230054
71MAP4K10.55812478
72CDK90.54674698
73EEF2K0.54316325
74PIM20.53755056
75PNCK0.52445831
76PAK10.50342226
77TEC0.49942796
78MTOR0.49235368
79CDK11A0.48523901
80NUAK10.47428522
81CAMK1D0.47340545
82MST40.47069451
83MAP3K100.46467781
84BTK0.46136659
85CDK60.45497374
86CAMK1G0.45259714
87CDK150.45059147
88MST1R0.45001070
89CDK180.44085185
90EPHA20.41439199
91IRAK30.40095437
92FGFR10.39713610
93PRKCI0.39328808
94ALK0.38448065
95KIT0.38303887
96PRKDC0.37951464
97BLK0.36665226
98DAPK10.36123462
99CDK30.35630970
100MET0.35201952
101MAPKAPK50.34174763
102MAPK140.33921130
103DYRK20.33223195
104TAOK20.33107437
105ERBB40.33095082
106CDK140.32780458
107AKT10.32359940
108FLT30.31860197
109MARK30.31551139
110BMX0.28498733
111LATS20.27586360
112AKT20.27529200
113CSNK1D0.27323288
114NEK90.26733378
115LYN0.26623014
116MAPK110.25137672
117STK240.24941133
118RAF10.23550117
119TESK10.21657948
120CSNK1E0.20681932
121SIK30.19350993
122RPS6KC10.19288158
123RPS6KL10.19288158
124RPS6KA60.19239215
125GSK3B0.19224624
126TXK0.18523240
127PAK20.18489379
128ERBB30.17541269
129FGFR40.17469446
130JAK30.17024594
131AKT30.15928535

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.70652314
2Mismatch repair_Homo sapiens_hsa034304.89858126
3* Homologous recombination_Homo sapiens_hsa034403.54311275
4Base excision repair_Homo sapiens_hsa034103.35017374
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.17897676
6Spliceosome_Homo sapiens_hsa030403.15523960
7Nucleotide excision repair_Homo sapiens_hsa034203.10880417
8Cell cycle_Homo sapiens_hsa041102.97126801
9Fanconi anemia pathway_Homo sapiens_hsa034602.89764520
10RNA polymerase_Homo sapiens_hsa030202.86488219
11RNA transport_Homo sapiens_hsa030132.85576018
12One carbon pool by folate_Homo sapiens_hsa006702.83162071
13Ribosome_Homo sapiens_hsa030102.81645292
14Proteasome_Homo sapiens_hsa030502.51422696
15Non-homologous end-joining_Homo sapiens_hsa034502.51182090
16Pyrimidine metabolism_Homo sapiens_hsa002402.44750619
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.03552736
18Basal transcription factors_Homo sapiens_hsa030221.91274122
19RNA degradation_Homo sapiens_hsa030181.89732560
20Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.82354906
21mRNA surveillance pathway_Homo sapiens_hsa030151.76160704
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.65036809
23p53 signaling pathway_Homo sapiens_hsa041151.63424876
24Carbon metabolism_Homo sapiens_hsa012001.31863781
25Purine metabolism_Homo sapiens_hsa002301.31369238
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.28471933
27Systemic lupus erythematosus_Homo sapiens_hsa053221.28160189
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.21964048
29Pyruvate metabolism_Homo sapiens_hsa006201.20492344
30Epstein-Barr virus infection_Homo sapiens_hsa051691.15714777
31Herpes simplex infection_Homo sapiens_hsa051681.10550731
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.07743489
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.00126360
34Viral carcinogenesis_Homo sapiens_hsa052030.95782267
35Oocyte meiosis_Homo sapiens_hsa041140.94769129
36Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88627880
37Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.87948594
38Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85710243
39Fatty acid elongation_Homo sapiens_hsa000620.80781683
40Steroid biosynthesis_Homo sapiens_hsa001000.79944970
41HTLV-I infection_Homo sapiens_hsa051660.77061762
42Antigen processing and presentation_Homo sapiens_hsa046120.76291598
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.75890737
44MicroRNAs in cancer_Homo sapiens_hsa052060.71556715
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.65741157
46Primary immunodeficiency_Homo sapiens_hsa053400.65309881
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.64943329
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.63885466
49Central carbon metabolism in cancer_Homo sapiens_hsa052300.61742166
50Protein export_Homo sapiens_hsa030600.61539700
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.59912155
52Folate biosynthesis_Homo sapiens_hsa007900.57252065
53Fructose and mannose metabolism_Homo sapiens_hsa000510.55989196
54Small cell lung cancer_Homo sapiens_hsa052220.55881655
55Measles_Homo sapiens_hsa051620.55810583
56Legionellosis_Homo sapiens_hsa051340.55188133
57NF-kappa B signaling pathway_Homo sapiens_hsa040640.55099701
58Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54978375
59Propanoate metabolism_Homo sapiens_hsa006400.54142249
60Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53144870
61Cyanoamino acid metabolism_Homo sapiens_hsa004600.53034714
62Oxidative phosphorylation_Homo sapiens_hsa001900.52413873
63Pentose phosphate pathway_Homo sapiens_hsa000300.48481765
64Alcoholism_Homo sapiens_hsa050340.47833701
65Drug metabolism - other enzymes_Homo sapiens_hsa009830.47220045
66Thyroid cancer_Homo sapiens_hsa052160.47122799
67Sulfur relay system_Homo sapiens_hsa041220.46926832
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.45411502
69Galactose metabolism_Homo sapiens_hsa000520.44166005
70Hepatitis B_Homo sapiens_hsa051610.43855038
71Apoptosis_Homo sapiens_hsa042100.43655711
72Basal cell carcinoma_Homo sapiens_hsa052170.43134739
73NOD-like receptor signaling pathway_Homo sapiens_hsa046210.41381499
74Notch signaling pathway_Homo sapiens_hsa043300.40531373
75Cysteine and methionine metabolism_Homo sapiens_hsa002700.40294829
76Huntingtons disease_Homo sapiens_hsa050160.39353933
77N-Glycan biosynthesis_Homo sapiens_hsa005100.39170011
78Influenza A_Homo sapiens_hsa051640.38778179
79RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.38441451
80Fatty acid metabolism_Homo sapiens_hsa012120.37679332
81Hematopoietic cell lineage_Homo sapiens_hsa046400.37111774
82Glutathione metabolism_Homo sapiens_hsa004800.36893683
83Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.36457609
84Arginine and proline metabolism_Homo sapiens_hsa003300.35860628
85Shigellosis_Homo sapiens_hsa051310.35089303
86Intestinal immune network for IgA production_Homo sapiens_hsa046720.34914229
87TGF-beta signaling pathway_Homo sapiens_hsa043500.34868791
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.34867066
89Selenocompound metabolism_Homo sapiens_hsa004500.33169184
90Vitamin digestion and absorption_Homo sapiens_hsa049770.32306821
91Biosynthesis of amino acids_Homo sapiens_hsa012300.31617321
92Adherens junction_Homo sapiens_hsa045200.31122017
93Chronic myeloid leukemia_Homo sapiens_hsa052200.30755034
94Colorectal cancer_Homo sapiens_hsa052100.29117158
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.27729181
96Hippo signaling pathway_Homo sapiens_hsa043900.27254588
97Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.26639166
98Viral myocarditis_Homo sapiens_hsa054160.26218206
99Pathways in cancer_Homo sapiens_hsa052000.24649690
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.23768030
101Allograft rejection_Homo sapiens_hsa053300.23514402
102Asthma_Homo sapiens_hsa053100.23259347
103Bladder cancer_Homo sapiens_hsa052190.23161242
104Vitamin B6 metabolism_Homo sapiens_hsa007500.22452883
105Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.21714184
106Leishmaniasis_Homo sapiens_hsa051400.21601182
107Arginine biosynthesis_Homo sapiens_hsa002200.20540753
108Prostate cancer_Homo sapiens_hsa052150.20202274
109Alzheimers disease_Homo sapiens_hsa050100.19824572
110Arachidonic acid metabolism_Homo sapiens_hsa005900.19101576
111Hedgehog signaling pathway_Homo sapiens_hsa043400.17975189
112Lysine degradation_Homo sapiens_hsa003100.17723772
113Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17552118
114Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.17161937
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.16689007
116Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.15997955
117Autoimmune thyroid disease_Homo sapiens_hsa053200.15723131
118Wnt signaling pathway_Homo sapiens_hsa043100.13066468
119Pancreatic cancer_Homo sapiens_hsa052120.12676211
120HIF-1 signaling pathway_Homo sapiens_hsa040660.11479530
121Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.10889321
122Melanoma_Homo sapiens_hsa052180.10864900
123Acute myeloid leukemia_Homo sapiens_hsa052210.10662294
124Metabolic pathways_Homo sapiens_hsa011000.10610143
125Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.10124819
126Jak-STAT signaling pathway_Homo sapiens_hsa046300.09866954
127Parkinsons disease_Homo sapiens_hsa050120.09846208
128Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.09328368
129Non-small cell lung cancer_Homo sapiens_hsa052230.08215125
130Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.07962319
131Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.07229626

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