Property Summary

NCBI Gene PubMed Count 43
PubMed Score 62.89
PubTator Score 43.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Gonadal Dysgenesis 28
Abnormal nasal morphology 16
Abnormal sex determination 11
Abnormality of the labia 9
Abnormality of the scrotum 9
Ambiguous Genitalia 24
Azoospermia 110
Bilateral fifth finger clinodactyly 110
Brachydactyly 156
Broad forehead 59
CONOTRUNCAL HEART MALFORMATIONS (disorder) 6
Congenital hypoplasia of penis 176
Cryptorchidism 296
Curvature of little finger 110
Decreased fertility in females 20
Decreased testosterone in males 28
Delayed Puberty 97
Diaphragmatic Hernia 40
Elevated follicle stimulating hormone 15
Elevated luteinizing hormone 14
Exophthalmos 112
Female external genitalia in males 13
Fetal Growth Retardation 189
Fused labia minora 5
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
Hypertrophy of clitoris 40
Hypoplasia of vagina 14
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Long narrow head 75
Low serum estradiol levels 22
Male infertility 206
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Osteoporosis 363
Penile hypospadias 106
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Pure gonadal dysgenesis 19
Rudimentary vagina 14
Sex reversal 10
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Streak ovary 15
Testicular regression syndrome 9
Thin lips 49
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Urogenital sinus anomaly 15
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.6
Liver cancer 604 0.0 0.7
Disease Target Count Z-score Confidence
46 XY gonadal dysgenesis 10 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (25)

Disease log2 FC p
active Crohn's disease 3.092 5.9e-03
active ulcerative colitis 2.033 3.1e-02
Amyotrophic lateral sclerosis 1.165 1.8e-04
Atopic dermatitis -1.300 3.3e-03
atypical teratoid / rhabdoid tumor -3.100 7.5e-04
colon cancer -1.900 3.3e-03
cystic fibrosis 1.440 1.4e-05
ductal carcinoma in situ -1.800 1.2e-02
fibroadenoma -1.600 1.1e-02
glioblastoma -1.600 2.4e-02
group 3 medulloblastoma 2.100 2.3e-02
intraductal papillary-mucinous adenoma (... -1.800 1.8e-03
intraductal papillary-mucinous carcinoma... -1.800 2.0e-03
invasive ductal carcinoma -2.200 2.4e-03
lung cancer -1.400 2.6e-03
lung carcinoma -1.700 2.1e-17
malignant mesothelioma -2.700 1.6e-08
medulloblastoma, large-cell 1.900 1.2e-02
non-small cell lung cancer -1.146 6.8e-07
ovarian cancer -5.400 1.9e-11
pediatric high grade glioma -1.500 4.2e-02
pituitary cancer 4.000 1.7e-09
primitive neuroectodermal tumor -2.200 2.0e-02
psoriasis -1.300 1.2e-06
subependymal giant cell astrocytoma -3.977 1.2e-02

Gene RIF (24)

AA Sequence

MSRRKQSKPRQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEFGPENLSCEEVEYFCNKGDDE      1 - 70
GIQETAESDGDTQSEKPGQPGVETDDWDGPGELEVFQKDGERKIQSRQQLPVGTTWGPFPGKMDLNNNSL     71 - 140
KTKAQVPMVLTAGPKWLLDVTWQGVEDNKNNCIVYSKGGQLWCTTTKAISEGEELIAFVVDFDSRLQAAS    141 - 210
QMTLTEGMYPARLLDSIQLLPQQAAMASILPTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREA    211 - 280
APVSEENEDSAHQISSLCPFPQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINF    281 - 350
HQHLFSHLTQAAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSEL    351 - 420
PQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLASSPVQPNIGP    421 - 490
SFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIYSPLMPKGATCFECNITFNNL    491 - 560
DNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTGQTSINLLNPAAHSADPENPLLQTSCINSST    561 - 630
VLDLIGPNGKGHDKDFSTQTKKLSTSSNNDDKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHE    631 - 700
TYMVHKQYYCATRHDPPLKRSASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPC    701 - 770
TSTQEPTEGLGECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQS    771 - 840
ERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPESERNSPDVSYE    841 - 910
RSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRHLFLPQCLYPGAIKKAKGADQ    911 - 980
LSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQASSNGCAALKKDSLPLLPKNRGMVIVNGGLKQ    981 - 1050
DERPAANPQQENISQNPQHEDDHKSPSWISENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKY   1051 - 1120
CRLCDIQFNNLSNFITHKKFYCSSHAAEHVK                                          1121 - 1151
//

Text Mined References (46)

PMID Year Title