HNRNPA1

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





Description: This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.17697420
2protein localization to kinetochore (GO:0034501)4.46669792
3nuclear pore organization (GO:0006999)4.21187009
4DNA strand elongation involved in DNA replication (GO:0006271)4.11037802
5regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.06641193
6negative regulation of mRNA splicing, via spliceosome (GO:0048025)4.01667908
7DNA ligation (GO:0006266)4.01345484
8nuclear pore complex assembly (GO:0051292)4.00227172
9kinetochore organization (GO:0051383)3.99232108
10mitotic metaphase plate congression (GO:0007080)3.96056345
11heterochromatin organization (GO:0070828)3.92511660
12DNA strand elongation (GO:0022616)3.92475151
13DNA replication initiation (GO:0006270)3.90992683
14mitotic nuclear envelope disassembly (GO:0007077)3.84411251
15protein localization to chromosome, centromeric region (GO:0071459)3.83716695
16ribosomal small subunit assembly (GO:0000028)3.79984216
17negative regulation of RNA splicing (GO:0033119)3.79918072
18DNA replication-dependent nucleosome organization (GO:0034723)3.73201481
19DNA replication-dependent nucleosome assembly (GO:0006335)3.73201481
20sister chromatid segregation (GO:0000819)3.71772102
21formation of translation preinitiation complex (GO:0001731)3.63857062
22IMP biosynthetic process (GO:0006188)3.63477025
23telomere maintenance via semi-conservative replication (GO:0032201)3.63465394
24mitotic sister chromatid segregation (GO:0000070)3.63130691
25pre-miRNA processing (GO:0031054)3.61796992
26maturation of SSU-rRNA (GO:0030490)3.60375143
27CENP-A containing nucleosome assembly (GO:0034080)3.58949383
28membrane disassembly (GO:0030397)3.58363724
29nuclear envelope disassembly (GO:0051081)3.58363724
30DNA replication-independent nucleosome organization (GO:0034724)3.58169943
31DNA replication-independent nucleosome assembly (GO:0006336)3.58169943
32mitotic sister chromatid cohesion (GO:0007064)3.58120219
33establishment of viral latency (GO:0019043)3.57662883
34nucleobase biosynthetic process (GO:0046112)3.56676497
35chromatin remodeling at centromere (GO:0031055)3.55035856
36metaphase plate congression (GO:0051310)3.54147414
37mitotic recombination (GO:0006312)3.48778740
38kinetochore assembly (GO:0051382)3.48776106
39negative regulation of mRNA processing (GO:0050686)3.48312612
40mitotic chromosome condensation (GO:0007076)3.47208670
41protein-DNA complex disassembly (GO:0032986)3.44899224
42nucleosome disassembly (GO:0006337)3.44899224
43regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.40630985
44non-recombinational repair (GO:0000726)3.39435781
45double-strand break repair via nonhomologous end joining (GO:0006303)3.39435781
46DNA duplex unwinding (GO:0032508)3.38095241
47DNA geometric change (GO:0032392)3.36734110
48paraxial mesoderm development (GO:0048339)3.36021555
49regulation of spindle organization (GO:0090224)3.36015997
50telomere maintenance via recombination (GO:0000722)3.35205975
51DNA replication checkpoint (GO:0000076)3.34503478
52DNA topological change (GO:0006265)3.30578166
53purine nucleobase biosynthetic process (GO:0009113)3.27966663
54* mRNA splicing, via spliceosome (GO:0000398)3.27672709
55* RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)3.27672709
56viral transcription (GO:0019083)3.26521051
57* RNA splicing, via transesterification reactions (GO:0000375)3.26474380
58ATP-dependent chromatin remodeling (GO:0043044)3.24535256
59dosage compensation (GO:0007549)3.23007476
60translational termination (GO:0006415)3.22313652
61regulation of sister chromatid cohesion (GO:0007063)3.21780983
62histone exchange (GO:0043486)3.20145934
63peptidyl-arginine omega-N-methylation (GO:0035247)3.18281211
64regulation of helicase activity (GO:0051095)3.17869008
65spindle checkpoint (GO:0031577)3.17734482
66L-serine metabolic process (GO:0006563)3.16819509
67establishment of chromosome localization (GO:0051303)3.16744880
68attachment of spindle microtubules to kinetochore (GO:0008608)3.15746203
69regulation of centriole replication (GO:0046599)3.14363417
70negative regulation of chromosome segregation (GO:0051985)3.13246716
71positive regulation of chromosome segregation (GO:0051984)3.12573705
72DNA damage response, detection of DNA damage (GO:0042769)3.12323647
73negative regulation of mitotic sister chromatid separation (GO:2000816)3.12182138
74negative regulation of mitotic sister chromatid segregation (GO:0033048)3.12182138
75negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.12182138
76negative regulation of sister chromatid segregation (GO:0033046)3.12182138
77regulation of chromosome segregation (GO:0051983)3.12007414
78spindle assembly checkpoint (GO:0071173)3.11440473
79IMP metabolic process (GO:0046040)3.09807016
80mitotic spindle checkpoint (GO:0071174)3.09518608
81mitotic spindle assembly checkpoint (GO:0007094)3.09254410
82spliceosomal snRNP assembly (GO:0000387)3.08811554
83telomere maintenance via telomere lengthening (GO:0010833)3.08163796
84ribosomal large subunit biogenesis (GO:0042273)3.07969377
85translational initiation (GO:0006413)3.06548696
86ribosome assembly (GO:0042255)3.04980343
87nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.04395440
88termination of RNA polymerase II transcription (GO:0006369)3.03587577
89regulation of mitotic metaphase/anaphase transition (GO:0030071)3.03066747
90negative regulation of mRNA metabolic process (GO:1903312)3.02394716
91negative regulation of histone methylation (GO:0031061)3.01931110
92negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.01778025
93pore complex assembly (GO:0046931)3.01328514
94chromatin assembly or disassembly (GO:0006333)3.00762626
95folic acid-containing compound biosynthetic process (GO:0009396)3.00401196
96regulation of translational fidelity (GO:0006450)2.99554935
97nucleotide-excision repair, DNA gap filling (GO:0006297)2.98998988
98V(D)J recombination (GO:0033151)2.98744958
99protein localization to chromosome (GO:0034502)2.98301938
100translational elongation (GO:0006414)2.97077893
101regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.96531393
102regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.95234374
103DNA conformation change (GO:0071103)2.91365477
104regulation of mitotic sister chromatid separation (GO:0010965)2.91188534
105regulation of mitotic sister chromatid segregation (GO:0033047)2.91188534
106regulation of sister chromatid segregation (GO:0033045)2.91188534
107establishment of integrated proviral latency (GO:0075713)2.90868784
108histone H2A acetylation (GO:0043968)2.90858748
109ribosome biogenesis (GO:0042254)2.90669907
110regulation of centrosome cycle (GO:0046605)2.90636868
111mRNA splice site selection (GO:0006376)2.89752117
112somatic hypermutation of immunoglobulin genes (GO:0016446)2.89532171
113somatic diversification of immune receptors via somatic mutation (GO:0002566)2.89532171
114spliceosomal complex assembly (GO:0000245)2.88854926
115regulation of histone H3-K9 methylation (GO:0051570)2.88533969
116peptidyl-arginine N-methylation (GO:0035246)2.88505280
117peptidyl-arginine methylation (GO:0018216)2.88505280
118ribonucleoprotein complex biogenesis (GO:0022613)2.87759734
119DNA strand renaturation (GO:0000733)2.87488967
120ribosomal small subunit biogenesis (GO:0042274)2.86855287
121SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.83271700

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.88708050
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.22507794
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.41328985
4E2F4_17652178_ChIP-ChIP_JURKAT_Human4.31891510
5* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.57560023
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.37663484
7MYC_19079543_ChIP-ChIP_MESCs_Mouse3.18327416
8MYC_19030024_ChIP-ChIP_MESCs_Mouse2.84738694
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.82033401
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.59628022
11KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.55426019
12MYC_18358816_ChIP-ChIP_MESCs_Mouse2.53091194
13* XRN2_22483619_ChIP-Seq_HELA_Human2.47466904
14AR_21909140_ChIP-Seq_LNCAP_Human2.47148151
15NELFA_20434984_ChIP-Seq_ESCs_Mouse2.43229643
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.37505617
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.36877801
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.36799558
19TP63_19390658_ChIP-ChIP_HaCaT_Human2.36172032
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.27370712
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.24155260
22E2F1_21310950_ChIP-Seq_MCF-7_Human2.23651968
23MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.12890917
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.11622498
25RBPJ_22232070_ChIP-Seq_NCS_Mouse2.11491545
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.06642245
27GABP_17652178_ChIP-ChIP_JURKAT_Human2.05022518
28MYC_22102868_ChIP-Seq_BL_Human2.04673735
29TTF2_22483619_ChIP-Seq_HELA_Human2.00397539
30CIITA_25753668_ChIP-Seq_RAJI_Human1.93084330
31MYCN_18555785_ChIP-Seq_MESCs_Mouse1.92536201
32YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.90740664
33JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.87773484
34* VDR_23849224_ChIP-Seq_CD4+_Human1.83754774
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.79288375
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.75480851
37FOXP3_21729870_ChIP-Seq_TREG_Human1.72807833
38ELF1_17652178_ChIP-ChIP_JURKAT_Human1.71922333
39* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.71825525
40E2F1_18555785_ChIP-Seq_MESCs_Mouse1.71202295
41ELK1_19687146_ChIP-ChIP_HELA_Human1.66533067
42THAP11_20581084_ChIP-Seq_MESCs_Mouse1.62226475
43KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.62186458
44KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.62186458
45KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.62186458
46DCP1A_22483619_ChIP-Seq_HELA_Human1.61994949
47ZFX_18555785_ChIP-Seq_MESCs_Mouse1.61810858
48CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.61807590
49SOX2_18555785_ChIP-Seq_MESCs_Mouse1.61563726
50GABP_19822575_ChIP-Seq_HepG2_Human1.59866948
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.58293246
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.51935211
53KDM5A_27292631_Chip-Seq_BREAST_Human1.45377730
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45327628
55ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42937433
56KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.42105996
57SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.38550844
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.34515435
59HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.34299496
60POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32542431
61SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.30886907
62* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.28748920
63E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26747800
64ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.26505868
65HOXB4_20404135_ChIP-ChIP_EML_Mouse1.25572083
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.23155135
67* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20277325
68POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.19813580
69SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18898500
70EWS_26573619_Chip-Seq_HEK293_Human1.17656306
71* NANOG_21062744_ChIP-ChIP_HESCs_Human1.13902756
72YY1_21170310_ChIP-Seq_MESCs_Mouse1.13625908
73* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.13300871
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12633783
75NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.11589558
76CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.10139786
77TCF3_18692474_ChIP-Seq_MEFs_Mouse1.07518493
78FUS_26573619_Chip-Seq_HEK293_Human1.04619790
79ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03066230
80DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.02862401
81HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.01554608
82SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.00795017
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.97142047
84CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.96534168
85SOX2_16153702_ChIP-ChIP_HESCs_Human0.96457504
86* MYC_18940864_ChIP-ChIP_HL60_Human0.96046666
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95939616
88VDR_21846776_ChIP-Seq_THP-1_Human0.95597147
89NANOG_16153702_ChIP-ChIP_HESCs_Human0.95305911
90SOX17_20123909_ChIP-Seq_XEN_Mouse0.94879814
91TFEB_21752829_ChIP-Seq_HELA_Human0.93428710
92ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.93306007
93DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.93197717
94STAT3_1855785_ChIP-Seq_MESCs_Mouse0.92499072
95CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.90747557
96SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.89526287
97TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.89127893
98ERG_20887958_ChIP-Seq_HPC-7_Mouse0.89105987
99CHD1_26751641_Chip-Seq_LNCaP_Human0.87743065
100ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.87712155
101PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.86718629
102KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.86117725
103IRF1_19129219_ChIP-ChIP_H3396_Human0.85953225
104CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.85906172
105ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.85242229
106* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.84271443
107NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.82691596
108POU5F1_16153702_ChIP-ChIP_HESCs_Human0.81446947
109SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.81125035
110NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.80403493
111TCF3_18692474_ChIP-Seq_MESCs_Mouse0.80231216
112OCT4_18692474_ChIP-Seq_MEFs_Mouse0.79553891

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching3.91820140
2MP0010094_abnormal_chromosome_stability3.82583513
3MP0003111_abnormal_nucleus_morphology3.62232651
4MP0004957_abnormal_blastocyst_morpholog3.48025432
5MP0003077_abnormal_cell_cycle3.35873880
6MP0008057_abnormal_DNA_replication3.19258185
7MP0003123_paternal_imprinting3.02545407
8MP0010030_abnormal_orbit_morphology2.68836879
9MP0008007_abnormal_cellular_replicative2.56882739
10MP0000537_abnormal_urethra_morphology2.50644423
11MP0008058_abnormal_DNA_repair2.49184829
12MP0009053_abnormal_anal_canal2.36853218
13MP0008932_abnormal_embryonic_tissue2.35314626
14MP0003121_genomic_imprinting2.34451308
15MP0001730_embryonic_growth_arrest2.20871220
16MP0000350_abnormal_cell_proliferation2.13576977
17MP0010352_gastrointestinal_tract_polyps1.95882965
18MP0003567_abnormal_fetal_cardiomyocyte1.87402330
19MP0005380_embryogenesis_phenotype1.84115405
20MP0001672_abnormal_embryogenesis/_devel1.84115405
21MP0003890_abnormal_embryonic-extraembry1.83589337
22MP0002085_abnormal_embryonic_tissue1.81929744
23MP0002084_abnormal_developmental_patter1.81605105
24MP0004197_abnormal_fetal_growth/weight/1.79551350
25MP0001697_abnormal_embryo_size1.78605908
26MP0001293_anophthalmia1.76276305
27MP0008877_abnormal_DNA_methylation1.73362610
28MP0003315_abnormal_perineum_morphology1.70702091
29MP0003984_embryonic_growth_retardation1.66122634
30MP0002088_abnormal_embryonic_growth/wei1.64504644
31MP0002396_abnormal_hematopoietic_system1.63347403
32MP0005076_abnormal_cell_differentiation1.61647265
33MP0003119_abnormal_digestive_system1.60052969
34MP0003122_maternal_imprinting1.59594171
35MP0002653_abnormal_ependyma_morphology1.54256017
36MP0009697_abnormal_copulation1.54081816
37MP0003937_abnormal_limbs/digits/tail_de1.53207166
38MP0002080_prenatal_lethality1.51706916
39MP0002938_white_spotting1.49681951
40MP0002009_preneoplasia1.48770598
41MP0004808_abnormal_hematopoietic_stem1.42515057
42MP0000049_abnormal_middle_ear1.41535847
43MP0002086_abnormal_extraembryonic_tissu1.40732420
44MP0010307_abnormal_tumor_latency1.39523355
45MP0008789_abnormal_olfactory_epithelium1.37420000
46MP0003136_yellow_coat_color1.36639939
47MP0006292_abnormal_olfactory_placode1.36616661
48MP0003786_premature_aging1.32743360
49MP0001346_abnormal_lacrimal_gland1.31293268
50MP0000428_abnormal_craniofacial_morphol1.30846196
51MP0003942_abnormal_urinary_system1.29646655
52MP0003385_abnormal_body_wall1.29493938
53MP0009672_abnormal_birth_weight1.22802414
54MP0001529_abnormal_vocalization1.21334379
55MP0002111_abnormal_tail_morphology1.20678382
56MP0003115_abnormal_respiratory_system1.19140532
57MP0000566_synostosis1.16651494
58MP0008995_early_reproductive_senescence1.16337110
59MP0000313_abnormal_cell_death1.15679954
60MP0000490_abnormal_crypts_of1.13921453
61MP0001286_abnormal_eye_development1.13552765
62MP0003935_abnormal_craniofacial_develop1.13102040
63MP0003941_abnormal_skin_development1.12069121
64MP0003705_abnormal_hypodermis_morpholog1.11223164
65MP0002932_abnormal_joint_morphology1.10919508
66MP0006054_spinal_hemorrhage1.10227035
67MP0002092_abnormal_eye_morphology1.09916576
68MP0003755_abnormal_palate_morphology1.07625248
69MP0003861_abnormal_nervous_system1.07564247
70MP0009703_decreased_birth_body1.06152573
71MP0002697_abnormal_eye_size1.03895040
72MP0000778_abnormal_nervous_system1.03402016
73MP0009379_abnormal_foot_pigmentation1.02612435
74MP0001849_ear_inflammation1.02138060
75MP0000733_abnormal_muscle_development1.01796882
76MP0000432_abnormal_head_morphology1.01790081
77MP0006072_abnormal_retinal_apoptosis1.01585595
78MP0000631_abnormal_neuroendocrine_gland1.01308992
79MP0001188_hyperpigmentation1.00955302
80MP0002282_abnormal_trachea_morphology1.00664238
81MP0002233_abnormal_nose_morphology0.98550046
82MP0002249_abnormal_larynx_morphology0.98011595
83MP0000516_abnormal_urinary_system0.97378671
84MP0005367_renal/urinary_system_phenotyp0.97378671
85MP0004133_heterotaxia0.96390042
86MP0001299_abnormal_eye_distance/0.96260581
87MP0005499_abnormal_olfactory_system0.96036368
88MP0005394_taste/olfaction_phenotype0.96036368
89MP0009250_abnormal_appendicular_skeleto0.95350034
90MP0002116_abnormal_craniofacial_bone0.93919948
91MP0003938_abnormal_ear_development0.93733119
92MP0000534_abnormal_ureter_morphology0.93560557
93MP0005391_vision/eye_phenotype0.93097758
94MP0002751_abnormal_autonomic_nervous0.92910407
95MP0002210_abnormal_sex_determination0.92824780
96MP0005187_abnormal_penis_morphology0.92774767
97MP0002019_abnormal_tumor_incidence0.90590557
98MP0002114_abnormal_axial_skeleton0.88314661
99MP0003283_abnormal_digestive_organ0.84448221
100MP0001915_intracranial_hemorrhage0.84066252
101MP0000579_abnormal_nail_morphology0.83677749
102MP0003787_abnormal_imprinting0.82102801
103MP0001145_abnormal_male_reproductive0.78074430
104MP0002925_abnormal_cardiovascular_devel0.77848964
105MP0000703_abnormal_thymus_morphology0.77489610
106MP0002081_perinatal_lethality0.77322094
107MP0001929_abnormal_gametogenesis0.76956528
108MP0002234_abnormal_pharynx_morphology0.76326583
109MP0001177_atelectasis0.74648130
110MP0003221_abnormal_cardiomyocyte_apopto0.74017797
111MP0000647_abnormal_sebaceous_gland0.72398857
112MP0002160_abnormal_reproductive_system0.71249916
113MP0005248_abnormal_Harderian_gland0.70667393
114MP0009278_abnormal_bone_marrow0.70114765
115MP0001340_abnormal_eyelid_morphology0.69936606
116MP0002109_abnormal_limb_morphology0.69797946
117MP0003718_maternal_effect0.67940359
118MP0002102_abnormal_ear_morphology0.66600798
119MP0001119_abnormal_female_reproductive0.65988284
120MP0000653_abnormal_sex_gland0.65966832

Predicted human phenotypes

RankGene SetZ-score
1Short 4th metacarpal (HP:0010044)3.64696467
2Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.64696467
3Colon cancer (HP:0003003)3.52013319
4Cortical dysplasia (HP:0002539)3.40192974
5Birth length less than 3rd percentile (HP:0003561)3.23348783
6Selective tooth agenesis (HP:0001592)3.17429408
7Medulloblastoma (HP:0002885)3.13266425
8Patellar aplasia (HP:0006443)3.08701500
9Aplasia/Hypoplasia of the patella (HP:0006498)3.00425566
10Increased nuchal translucency (HP:0010880)2.94714075
11Reticulocytopenia (HP:0001896)2.92679594
12Ependymoma (HP:0002888)2.90273859
13Abnormal number of incisors (HP:0011064)2.88071861
14Degeneration of anterior horn cells (HP:0002398)2.82335000
15Abnormality of the anterior horn cell (HP:0006802)2.82335000
16Abnormality of the 4th metacarpal (HP:0010012)2.77371558
17Renal duplication (HP:0000075)2.72781649
18Proximal placement of thumb (HP:0009623)2.66111829
19Deviation of the thumb (HP:0009603)2.60332041
20Atresia of the external auditory canal (HP:0000413)2.59241776
21Volvulus (HP:0002580)2.57404620
22Abnormal lung lobation (HP:0002101)2.54021966
23Septo-optic dysplasia (HP:0100842)2.52023399
24Breast hypoplasia (HP:0003187)2.47925484
25Abnormality of the labia minora (HP:0012880)2.45267584
26Triphalangeal thumb (HP:0001199)2.43497534
27Abnormality of cells of the erythroid lineage (HP:0012130)2.40674417
28Chromsome breakage (HP:0040012)2.38692125
29Aplasia/Hypoplasia of the sternum (HP:0006714)2.36457281
30Ectopic kidney (HP:0000086)2.36128943
31Hepatoblastoma (HP:0002884)2.31656592
32Bilateral microphthalmos (HP:0007633)2.25639699
33Rhabdomyosarcoma (HP:0002859)2.22543186
34Meckel diverticulum (HP:0002245)2.19936872
35Spastic diplegia (HP:0001264)2.17988706
36Chromosomal breakage induced by crosslinking agents (HP:0003221)2.15598054
37Abnormal number of erythroid precursors (HP:0012131)2.14072210
38Oral leukoplakia (HP:0002745)2.10234647
39Abnormality of the astrocytes (HP:0100707)2.09229360
40Astrocytoma (HP:0009592)2.09229360
41Multiple enchondromatosis (HP:0005701)2.09175924
42Abnormality of the ileum (HP:0001549)2.08499882
43Pelvic girdle muscle weakness (HP:0003749)2.05667554
44Abnormality of cochlea (HP:0000375)2.05585617
45Absent radius (HP:0003974)2.04569186
46High anterior hairline (HP:0009890)2.03674315
47Facial hemangioma (HP:0000329)2.03586319
48Neoplasm of the pancreas (HP:0002894)2.02931003
49Duplication of thumb phalanx (HP:0009942)2.02030403
50Long eyelashes (HP:0000527)2.01928823
51Supernumerary spleens (HP:0009799)2.01397081
52Nephroblastoma (Wilms tumor) (HP:0002667)2.01301010
53Abnormality of chromosome stability (HP:0003220)2.00566701
54Carpal bone hypoplasia (HP:0001498)1.99994555
55Small intestinal stenosis (HP:0012848)1.99571915
56Duodenal stenosis (HP:0100867)1.99571915
57Missing ribs (HP:0000921)1.98372585
58Anophthalmia (HP:0000528)1.97688449
59Short middle phalanx of the 5th finger (HP:0004220)1.96742133
60Trigonocephaly (HP:0000243)1.96400291
61Shoulder girdle muscle weakness (HP:0003547)1.95499017
62Abnormality of the septum pellucidum (HP:0007375)1.94864996
63Glioma (HP:0009733)1.94822449
64Macrocytic anemia (HP:0001972)1.94662207
6511 pairs of ribs (HP:0000878)1.94429448
66Microvesicular hepatic steatosis (HP:0001414)1.94039785
67Aplasia involving forearm bones (HP:0009822)1.93969078
68Absent forearm bone (HP:0003953)1.93969078
69Rib fusion (HP:0000902)1.93899502
70Impulsivity (HP:0100710)1.91716919
71Embryonal renal neoplasm (HP:0011794)1.91565093
72Aplasia/Hypoplasia of the uvula (HP:0010293)1.91205503
73Spinal cord lesions (HP:0100561)1.90807856
74Syringomyelia (HP:0003396)1.90807856
75Broad thumb (HP:0011304)1.89606424
76Hemivertebrae (HP:0002937)1.88647991
77Myelodysplasia (HP:0002863)1.86635970
78Hyperacusis (HP:0010780)1.86100882
79Tracheoesophageal fistula (HP:0002575)1.85781565
80Abdominal situs inversus (HP:0003363)1.85742973
81Abnormality of abdominal situs (HP:0011620)1.85742973
82Neoplasm of striated muscle (HP:0009728)1.85643793
83Morphological abnormality of the inner ear (HP:0011390)1.84445271
84Supernumerary bones of the axial skeleton (HP:0009144)1.83656720
85Esophageal atresia (HP:0002032)1.83196445
86Absent septum pellucidum (HP:0001331)1.83124670
87Supernumerary ribs (HP:0005815)1.82967045
88Preauricular skin tag (HP:0000384)1.81593544
89Agnosia (HP:0010524)1.81379660
90Irregular epiphyses (HP:0010582)1.80677343
91Intestinal atresia (HP:0011100)1.80343955
92Skin tags (HP:0010609)1.80339074
93Absent thumb (HP:0009777)1.80256816
94Abnormality of the preputium (HP:0100587)1.80082924
95Optic nerve coloboma (HP:0000588)1.80041914
96Atrophy/Degeneration involving motor neurons (HP:0007373)1.78336573
97Abnormality of the duodenum (HP:0002246)1.77853956
98Sloping forehead (HP:0000340)1.77660687
99Gastrointestinal carcinoma (HP:0002672)1.77405477
100Malignant gastrointestinal tract tumors (HP:0006749)1.77405477
101Short 5th finger (HP:0009237)1.76919076
102Broad phalanges of the hand (HP:0009768)1.76576318
103Basal cell carcinoma (HP:0002671)1.76019768
104Neoplasm of the oral cavity (HP:0100649)1.75507214
105Embryonal neoplasm (HP:0002898)1.74791480
106Skull defect (HP:0001362)1.72759376
107Hyperglycinemia (HP:0002154)1.72651566
108Aplastic anemia (HP:0001915)1.72597755
109Urethral obstruction (HP:0000796)1.72531599
110Horseshoe kidney (HP:0000085)1.71518960
111Oligodactyly (HP:0012165)1.70981891
112Hypoplastic pelvis (HP:0008839)1.70524712
113Short thumb (HP:0009778)1.69977718
114Abnormality of the hip-girdle musculature (HP:0001445)1.68906068
115Abnormality of the musculature of the pelvis (HP:0001469)1.68906068
116Overlapping toe (HP:0001845)1.67825459
117Facial cleft (HP:0002006)1.67349924
118Abnormality of the carotid arteries (HP:0005344)1.66813826
119Choanal atresia (HP:0000453)1.66443949
120Deep philtrum (HP:0002002)1.66210936
121Stenosis of the external auditory canal (HP:0000402)1.66024752
122Neoplasm of the colon (HP:0100273)1.65760288
123Aplasia/Hypoplasia of the breasts (HP:0010311)1.65319955
124Ovarian neoplasm (HP:0100615)1.64721760
125Cutaneous syndactyly (HP:0012725)1.64562205
126Shawl scrotum (HP:0000049)1.63917659
127Neuroblastic tumors (HP:0004376)1.63333356
128Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.63333356
129Neuroblastoma (HP:0003006)1.63333356
130Primitive neuroectodermal tumor (HP:0030065)1.63333356
131Preaxial hand polydactyly (HP:0001177)1.62902576
132Breast aplasia (HP:0100783)1.62492010
133Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.62489440
134Absent epiphyses (HP:0010577)1.62489440
135Anal stenosis (HP:0002025)1.62325094
136Overriding aorta (HP:0002623)1.61064027
137Acute lymphatic leukemia (HP:0006721)1.60917300
138Abnormality of chromosome segregation (HP:0002916)1.60736879
139Partial agenesis of the corpus callosum (HP:0001338)1.60647054
140Abnormality of the calcaneus (HP:0008364)1.59437675
141Partial duplication of thumb phalanx (HP:0009944)1.58944098
142Broad palm (HP:0001169)1.58606854
143Pallor (HP:0000980)1.57773287

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.78657039
2BUB13.69805587
3WEE13.69395980
4SRPK13.23092526
5NEK22.84678787
6VRK22.82818994
7TSSK62.71199000
8PASK2.57983335
9MKNK22.47553861
10NEK12.44768492
11EIF2AK12.32140144
12EEF2K2.30147748
13TAF12.26883524
14TTK2.16167074
15CDK122.13416415
16PLK32.10813762
17TGFBR12.05020117
18PLK41.93813789
19PLK11.91205052
20RPS6KB21.89280286
21ATR1.85192761
22PBK1.83118399
23BRSK21.82350307
24MAP3K101.76614791
25ACVR1B1.74092673
26* MKNK11.72749079
27CDK71.70619592
28SMG11.68053268
29CDK191.67065135
30AURKB1.65568212
31ERBB31.60687591
32DYRK31.59484650
33BRD41.57466302
34PAK41.42339163
35CHEK11.41542156
36CDK41.36704484
37CHEK21.35549524
38TNIK1.34769052
39RPS6KA41.34494477
40TRIM281.30729565
41BRSK11.28732582
42EIF2AK31.22094506
43VRK11.20062206
44MAP3K81.17608239
45CDK61.11746761
46PKN21.11120426
47NUAK11.09286902
48TESK21.08225728
49ALK1.06920818
50AURKA1.06706748
51CDK21.03300919
52ATM1.02681327
53FGFR21.02087627
54STK100.97810225
55CCNB10.97773585
56LATS10.93712004
57EPHB20.93186347
58STK40.92457985
59PNCK0.91387172
60SCYL20.91357790
61CDK10.86057818
62FGFR10.85856958
63LRRK20.82231690
64NME10.79138174
65WNK30.78688594
66LATS20.78223604
67STK30.78161748
68MELK0.74415980
69CDK80.74109734
70CDK30.73274575
71MAP3K40.72617251
72MTOR0.70001896
73EIF2AK20.67746335
74CSNK2A20.67413324
75CDK11A0.63970599
76STK160.62063726
77CLK10.60427711
78PIM10.60307286
79CDK180.59149192
80* CSNK2A10.58258175
81CDK150.56881207
82PAK20.56648522
83CSNK1E0.55406915
84KSR10.54707833
85MAP4K20.54479889
86DYRK20.54181765
87PAK10.52696397
88NME20.52229548
89EPHA20.52122318
90CDK140.51391136
91PDGFRA0.50242612
92ILK0.49913928
93CDK90.48504255
94PRKDC0.48051102
95TYRO30.47678459
96AKT20.47500011
97YES10.46057832
98CSNK1G30.45305638
99LIMK10.45205463
100UHMK10.44651812
101EPHA40.43889414
102TESK10.43516475
103CSNK1G20.43093719
104MAPK140.42910054
105PTK60.39360514
106TLK10.39239582
107CSNK1A1L0.36671595
108CSNK1D0.36456203
109ZAK0.36359928
110PRKCI0.35881085
111STK38L0.35770000
112ERBB20.35616359
113CAMK1G0.34985008
114DYRK1A0.32607947
115* AKT10.32433090
116BCR0.32182403
117FLT30.31834346
118PLK20.31447384
119TTN0.30418989
120MAPK90.30376449
121RPS6KA10.29908441
122GSK3B0.29545442
123TRIB30.29544712
124CSNK1G10.28110611
125RPS6KB10.28028076
126STK240.27403978
127MAP2K70.25355148
128CAMK1D0.23262710
129BRAF0.22717648

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.61008277
2Mismatch repair_Homo sapiens_hsa034304.00858293
3* Spliceosome_Homo sapiens_hsa030403.80225266
4RNA transport_Homo sapiens_hsa030133.38525906
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.27335206
6Cell cycle_Homo sapiens_hsa041103.16148148
7Base excision repair_Homo sapiens_hsa034102.91427045
8Ribosome_Homo sapiens_hsa030102.91344057
9Nucleotide excision repair_Homo sapiens_hsa034202.66252565
10Homologous recombination_Homo sapiens_hsa034402.62920721
11RNA polymerase_Homo sapiens_hsa030202.53485715
12One carbon pool by folate_Homo sapiens_hsa006702.45551094
13Proteasome_Homo sapiens_hsa030502.42695399
14mRNA surveillance pathway_Homo sapiens_hsa030152.41458432
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.34257259
16RNA degradation_Homo sapiens_hsa030182.03361435
17Fanconi anemia pathway_Homo sapiens_hsa034602.02634544
18Non-homologous end-joining_Homo sapiens_hsa034501.99824428
19Pyrimidine metabolism_Homo sapiens_hsa002401.91335330
20Basal transcription factors_Homo sapiens_hsa030221.74436117
21p53 signaling pathway_Homo sapiens_hsa041151.64259457
22Basal cell carcinoma_Homo sapiens_hsa052171.49844547
23Protein export_Homo sapiens_hsa030601.44643882
24Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.35727257
25Oocyte meiosis_Homo sapiens_hsa041141.35208892
26Epstein-Barr virus infection_Homo sapiens_hsa051691.31752612
27Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.29340786
28MicroRNAs in cancer_Homo sapiens_hsa052061.25658455
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.25206135
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.23564445
31Steroid biosynthesis_Homo sapiens_hsa001001.23166515
32Hippo signaling pathway_Homo sapiens_hsa043901.22076235
33Carbon metabolism_Homo sapiens_hsa012001.17710881
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.16523748
35Propanoate metabolism_Homo sapiens_hsa006401.13055678
36Viral carcinogenesis_Homo sapiens_hsa052031.12278334
37HTLV-I infection_Homo sapiens_hsa051661.11543768
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.09829571
39Hedgehog signaling pathway_Homo sapiens_hsa043401.08035620
40Pyruvate metabolism_Homo sapiens_hsa006201.07818488
41Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.07247751
42Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.06402680
43Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.05210628
44Colorectal cancer_Homo sapiens_hsa052101.03544225
45Notch signaling pathway_Homo sapiens_hsa043301.01546362
46Herpes simplex infection_Homo sapiens_hsa051680.99661302
47Purine metabolism_Homo sapiens_hsa002300.97842658
48Thyroid cancer_Homo sapiens_hsa052160.97737572
49Small cell lung cancer_Homo sapiens_hsa052220.95313430
50Systemic lupus erythematosus_Homo sapiens_hsa053220.93289989
51TGF-beta signaling pathway_Homo sapiens_hsa043500.92247625
52Antigen processing and presentation_Homo sapiens_hsa046120.86060488
53Chronic myeloid leukemia_Homo sapiens_hsa052200.85569689
54Adherens junction_Homo sapiens_hsa045200.84115854
55Transcriptional misregulation in cancer_Homo sapiens_hsa052020.82294033
56Wnt signaling pathway_Homo sapiens_hsa043100.76523494
57Viral myocarditis_Homo sapiens_hsa054160.75414957
58Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74307197
59Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.65793523
60Pathways in cancer_Homo sapiens_hsa052000.64634376
61Huntingtons disease_Homo sapiens_hsa050160.63847715
62Endometrial cancer_Homo sapiens_hsa052130.62637247
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61554130
64Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60909906
65Selenocompound metabolism_Homo sapiens_hsa004500.58789188
66Proteoglycans in cancer_Homo sapiens_hsa052050.58550139
67Central carbon metabolism in cancer_Homo sapiens_hsa052300.57225808
68Prostate cancer_Homo sapiens_hsa052150.53865178
69Legionellosis_Homo sapiens_hsa051340.53620946
70Fatty acid elongation_Homo sapiens_hsa000620.53308245
71Hepatitis B_Homo sapiens_hsa051610.53208609
72Non-small cell lung cancer_Homo sapiens_hsa052230.52979781
73Vitamin B6 metabolism_Homo sapiens_hsa007500.52791623
74Alcoholism_Homo sapiens_hsa050340.52452186
75Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.50421372
76mTOR signaling pathway_Homo sapiens_hsa041500.50258735
77Bladder cancer_Homo sapiens_hsa052190.49577078
78Biosynthesis of amino acids_Homo sapiens_hsa012300.49548869
79Parkinsons disease_Homo sapiens_hsa050120.49359238
80Tight junction_Homo sapiens_hsa045300.47466983
81Shigellosis_Homo sapiens_hsa051310.44910208
82Folate biosynthesis_Homo sapiens_hsa007900.44304702
83Cysteine and methionine metabolism_Homo sapiens_hsa002700.43984688
84Apoptosis_Homo sapiens_hsa042100.43804024
85Lysine degradation_Homo sapiens_hsa003100.42670655
86HIF-1 signaling pathway_Homo sapiens_hsa040660.41591002
87N-Glycan biosynthesis_Homo sapiens_hsa005100.40245582
88Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40145906
89Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.39713823
90Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.38919645
91Pancreatic cancer_Homo sapiens_hsa052120.37796374
92Melanoma_Homo sapiens_hsa052180.37140054
93Cyanoamino acid metabolism_Homo sapiens_hsa004600.35058213
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.33212613
95PI3K-Akt signaling pathway_Homo sapiens_hsa041510.32560178
96Acute myeloid leukemia_Homo sapiens_hsa052210.30879128
97FoxO signaling pathway_Homo sapiens_hsa040680.30750675
98Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29695907
99Measles_Homo sapiens_hsa051620.28848024
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27895353
101Fatty acid metabolism_Homo sapiens_hsa012120.27277840
102Glutathione metabolism_Homo sapiens_hsa004800.27084948
103Metabolic pathways_Homo sapiens_hsa011000.25803427
104Leukocyte transendothelial migration_Homo sapiens_hsa046700.24019941
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.23969356
106Influenza A_Homo sapiens_hsa051640.23765954
107Arginine and proline metabolism_Homo sapiens_hsa003300.23601677
108Focal adhesion_Homo sapiens_hsa045100.22669720
109Melanogenesis_Homo sapiens_hsa049160.22657279
110Renal cell carcinoma_Homo sapiens_hsa052110.21764844
111Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.21635981
112AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20950481
113Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.19257256
114Glioma_Homo sapiens_hsa052140.19084337
115Pentose phosphate pathway_Homo sapiens_hsa000300.18683415
116Primary immunodeficiency_Homo sapiens_hsa053400.18496122
117Axon guidance_Homo sapiens_hsa043600.18400249
118Butanoate metabolism_Homo sapiens_hsa006500.17969927
119Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.17671216
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.16546215
121Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.16122509
122Regulation of actin cytoskeleton_Homo sapiens_hsa048100.15541239
123Drug metabolism - other enzymes_Homo sapiens_hsa009830.14582804
124NOD-like receptor signaling pathway_Homo sapiens_hsa046210.13781829
125NF-kappa B signaling pathway_Homo sapiens_hsa040640.13163439
126T cell receptor signaling pathway_Homo sapiens_hsa046600.12961378
127Sulfur relay system_Homo sapiens_hsa041220.11085643
128ECM-receptor interaction_Homo sapiens_hsa045120.10128205
129Oxidative phosphorylation_Homo sapiens_hsa001900.09669757
130Longevity regulating pathway - mammal_Homo sapiens_hsa042110.09308085
131Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.09270166
132Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.08487921
133AMPK signaling pathway_Homo sapiens_hsa041520.04586748

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