Property Summary

NCBI Gene PubMed Count 385
PubMed Score 97.25
PubTator Score 1020.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal hair quantity 16
Anus, Imperforate 46
Attention deficit hyperactivity disorder 278
Autoimmune hemolytic anemia 31
Autosomal recessive predisposition 1442
Birthmark 35
Bone marrow hypocellularity 20
Bronchiectasis 64
Cachexia 50
Cafe-au-Lait Spots 37
Choanal Atresia 42
Chromosome Breakage 36
Chronic diarrhea 29
Cleft Lip 141
Cleft Palate 271
Concave bridge of nose 195
Convex nasal bridge 57
Convex nasal ridge 37
Decreased platelet count 111
Deep philtrum 21
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Diarrhea 253
Dull intelligence 645
Dysgammaglobulinemia 10
Fetal Growth Retardation 189
Gastrointestinal infection 4
Glioma 74
Hearing abnormality 12
Hereditary Breast and Ovarian Cancer Syndrome 14
Hydronephrosis 89
Hyperactive behavior 91
Hyperplasia of malar bones 4
Hyperplasia of nose 23
Hypertrophy of nose 23
Hypoplastic mandible condyle 275
Increased chromosomal breakage 27
Increased frequency of micturition 2
Infant, Small for Gestational Age 176
Infectious disease of lung 29
Intellectual disability 1016
Intrauterine retardation 176
Large auricle 87
Large dysplastic ears 87
Large nose 23
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long nose 15
Low B cell count 8
Low anterior hairline 30
Low intelligence 645
Lymphoma 81
Macrotia 87
Malignant neoplasm of breast 15
Mandibular hypoplasia 275
Mastoiditis 8
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Micrognathism 275
Multiple pulmonary infections 29
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Otitis Media 52
Ovarian Failure, Premature 9
Paranasal Sinus Diseases 34
Poor school performance 645
Progressive vitiligo 1
Prominent midface 4
Prominent nasal bridge 57
Prostate cancer, familial 13
Recurrent bronchitis 23
Recurrent gastrointestinal infections 4
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Recurrent sinopulmonary infections 6
Recurrent urinary tract infection 24
Retrognathia 54
Rhabdomyosarcoma 39
Short neck 140
Short stature 531
Sinusitis 65
Sloping forehead 46
Small head 374
Stricture of anus 13
T-Lymphocytopenia 9
Thrombocytopenia 197
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
acute lymphocytic leukemia 33
medulloblastoma 720
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 5.0
ovarian cancer 8520 0.0 0.0107148143565084
Disease Target Count Z-score Confidence
Microcephaly 166 5.139 2.6
Ataxia telangiectasia 34 4.736 2.4
Cancer 2499 3.294 1.6

Expression

  Differential Expression (10)

Disease log2 FC p
ovarian cancer -1.100 1.1e-02
autosomal dominant Emery-Dreifuss muscul... 1.050 4.4e-03
gastric carcinoma 1.200 2.5e-02
lung cancer 1.100 1.5e-02
Multiple myeloma 1.028 2.0e-02
non primary Sjogren syndrome sicca 1.100 2.2e-02
pituitary cancer -1.100 4.8e-04
psoriasis -1.500 1.2e-03
ulcerative colitis 1.200 3.1e-06
Waldenstrons macroglobulinemia 1.031 8.3e-03

Protein-protein Interaction (2)

Gene RIF (363)

AA Sequence

MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKD      1 - 70
NSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTV     71 - 140
NNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNV    141 - 210
DLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQT    211 - 280
LIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDE    281 - 350
KLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT    351 - 420
LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLL    421 - 490
EQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIED    491 - 560
EVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDS    561 - 630
LWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLP    631 - 700
HIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR                    701 - 754
//

Text Mined References (398)

PMID Year Title