Property Summary

Ligand Count 4
NCBI Gene PubMed Count 225
PubMed Score 104.11
PubTator Score 158.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Bloom syndrome 29 6.211 3.1
Disease Target Count
Absent upper lateral incisors 3
Agenesis of maxillary lateral incisor 3
Autosomal recessive predisposition 1442
Azoospermia 110
Bilateral fifth finger clinodactyly 110
Birthmark 35
Bronchiectasis 64
Cafe-au-Lait Spots 37
Chromosome Breakage 36
Chronic lung disease 6
Cryptorchidism 296
Curvature of little finger 110
Decreased IgM 11
Decreased fertility in females 20
Delayed bone age 136
Depressed cheekbone 22
Diabetes Mellitus, Non-Insulin-Dependent 145
Diarrhea 253
Erythema 58
Facial telangiectasia in butterfly midface distribution 2
Fetal Growth Retardation 189
Flattening of the zygomatic bone 22
Flushing 60
Hand polydactyly 11
Hematologic Neoplasms 22
High pitched voice 23
Hyperplasia of nose 23
Hypertrichosis 46
Hypertrophy of nose 23
Hypoplasia of the zygomatic bone 22
Hypotrophic cheekbone 22
Hypotrophic malar bone 129
IgG Deficiency 22
Immunoglobulin A deficiency (disorder) 19
Increased chromosomal breakage 27
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Large nose 23
Leukemia 104
Long narrow head 75
Lymphoma 81
Malar flattening 129
Malignant Squamous Cell Neoplasm 17
Narrow cranium shape 75
Narrow face 54
Narrow head shape 75
Narrow skull shape 75
Paranasal Sinus Diseases 34
Photosensitivity of skin 51
Postnatal growth retardation 57
Prominent ear 56
Protruding ears 56
Recurrent respiratory infections 141
Short nose 132
Short stature 531
Sinusitis 65
Small cheekbone 22
Small head 374
Small nose 132
Specific learning disability 47
Spotty hyperpigmentation 3
Spotty hypopigmentation 4
Squamous cell carcinoma 129
Syndactyly 88
Thin face 54
Turridolichocephaly 75
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (20)

Disease log2 FC p
adult high grade glioma 1.400 2.3e-03
Astrocytoma, Pilocytic 2.400 2.6e-10
Breast cancer 1.500 5.8e-11
colon cancer 1.100 1.2e-02
cutaneous lupus erythematosus 1.300 1.1e-02
ductal carcinoma in situ 1.100 3.9e-04
glioblastoma 1.700 1.6e-08
interstitial cystitis 1.200 1.7e-03
intraductal papillary-mucinous carcinoma... 1.100 1.4e-03
intraductal papillary-mucinous neoplasm ... 1.200 6.9e-03
invasive ductal carcinoma 1.400 2.0e-04
lung adenocarcinoma 1.100 5.9e-12
lung cancer 2.000 2.0e-03
malignant mesothelioma 2.500 1.8e-08
medulloblastoma, large-cell 1.200 2.4e-02
non-small cell lung cancer 1.590 6.6e-18
osteosarcoma -2.009 3.9e-03
ovarian cancer 2.200 1.7e-13
pituitary cancer -2.000 2.3e-06
psoriasis 1.700 1.1e-113

 OMIM Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (181)

AA Sequence

MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTED      1 - 70
FSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLE     71 - 140
FSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPP    141 - 210
PSSESEQIDLTEEQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAEL    211 - 280
HSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSM    281 - 350
QELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD    351 - 420
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERP    421 - 490
LFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDD    491 - 560
FDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQNYTDKS    561 - 630
AQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQ    631 - 700
LPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKI    701 - 770
CASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD    771 - 840
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQR    841 - 910
DGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRA    911 - 980
GRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGF    981 - 1050
NPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLG   1051 - 1120
SKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFM   1121 - 1190
ETENSSSVKKQKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL   1191 - 1260
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKT   1261 - 1330
RNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMA   1331 - 1400
PPKPINRPFLKPSYAFS                                                        1401 - 1417
//

Text Mined References (235)

PMID Year Title