Property Summary

NCBI Gene PubMed Count 314
PubMed Score 1000.62
PubTator Score 617.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
subependymal giant cell astrocytoma 2287
Intellectual disability 1016
Pneumothorax 23
Abdominal Pain 98
Abnormal behavior 52
Abnormality of female internal genitalia 13
Achromatic retinal patches 2
Angiofibroma 7
Angiomyolipoma of kidney 4
Atelectasis 8
Attention deficit hyperactivity disorder 278
Birthmark 35
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Cardiac rhabdomyoma 5
Cerebral calcification 43
Chest Pain 38
Chordoma 7
Chylothorax 2
Cognitive delay 608
Confetti-like hypopigmented macules 3
Cortical Dysplasia 13
Cortical tubers 2
Coughing 25
Cystic kidney 30
Dull intelligence 645
Dyspnea 76
Electroencephalogram abnormal 101
Fibroid Tumor 6
Fibromatosis, Gingival 8
Fibrous skin tumor of tuberous sclerosis 18
Global developmental delay 608
Hematuria 36
Hereditary gingival fibromatosis 8
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypothyroidism 122
Idiopathic gingival hyperplasia 8
Infantile Spasm 4
Infiltrate of lung 17
Kidney Neoplasm 29
Leukemia, Myelocytic, Acute 120
Low intelligence 645
Lymphadenopathy 62
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Multiple, subcutaneous nodules 53
Optic Atrophy 242
Optic nerve glioma 4
PULMONARY LYMPHANGIOMYOMATOSIS 2
Pancreatic Neoplasm 85
Papule 43
Periungual fibroma 2
Phenotypic variability 150
Polycystic kidneys, severe infantile with tuberous sclerosis 2
Poor school performance 645
Port-Wine Stain 8
Precocious Puberty 28
Prominent back of the head 21
Prominent occiput 21
Pulmonary emphysema 48
Renal Cell Carcinoma 214
Renal cyst 30
Restrictive lung disease 11
Restrictive ventilatory defect 11
Retinal hamartoma 2
Sebaceous adenoma 26
Shagreen patch 3
Skin tag 14
Specific learning disability 47
Subcutaneous nodule 53
Subependymal nodules 2
Subungual fibroma 2
TUBEROUS SCLEROSIS 1 (disorder) 3
TUBEROUS SCLEROSIS 2 (disorder) 2
West Syndrome 28
Wolff-Parkinson-White syndrome 19
astrocytoma 1146
ependymoma 4679
hypopigmented skin patch 59
Disease Target Count P-value
ovarian cancer 8520 1.1e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Liver cancer 604 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2499 4.458 2.2

Expression

  Differential Expression (3)

Disease log2 FC p
subependymal giant cell astrocytoma -1.915 1.0e-02
astrocytoma 1.100 4.5e-02
ovarian cancer 1.100 1.1e-04

Protein-protein Interaction (3)

Gene RIF (246)

AA Sequence

MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKT      1 - 70
KKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERL     71 - 140
EVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTA    141 - 210
SSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLM    211 - 280
EDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYR    281 - 350
KELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPE    351 - 420
SSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVI    421 - 490
SQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDV    491 - 560
KTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLG    561 - 630
LPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQE    631 - 700
SDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVL    701 - 770
TALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMA    771 - 840
VPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVP    841 - 910
FITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSI    911 - 980
SVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEF    981 - 1050
LLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQV   1051 - 1120
SRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLL   1121 - 1190
TQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAAST   1191 - 1260
AKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRT   1261 - 1330
DAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGD   1331 - 1400
PGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSR   1401 - 1470
RGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSY   1471 - 1540
DTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCW   1541 - 1610
HDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYEC   1611 - 1680
NLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRL   1681 - 1750
RQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV                1751 - 1807
//

Text Mined References (329)

PMID Year Title