Property Summary

NCBI Gene PubMed Count 307
PubMed Score 1332.43
PubTator Score 839.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Gonadoblastoma 34
Cleft Palate 271
Male infertility 206
11 pairs of ribs 7
46, XX Testicular Disorders of Sex Development 3
ANONYCHIA 20
Abnormal scrotal rugation 2
Abnormal sex determination 11
Abnormality of male internal genitalia 4
Abnormality of the labia 9
Abnormality of the pharynx 19
Abnormality of the scrotum 9
Absent bone maturation in sternum 4
Absent sternal ossification 4
Acquired scoliosis 281
Ambiguous Genitalia 24
Animal Mammary Neoplasms 136
Anterior bowing of tibia 1
Apnea 45
Autism Spectrum Disorders 75
Azoospermia 110
Bifid scrotum 16
Big calvaria 147
Blepharophimosis 70
Concave bridge of nose 195
Congenital Hand Deformities 8
Congenital Heart Defects 58
Congenital clubfoot 109
Congenital deafness 185
Congenital heart disease 93
Congenital hypoplasia of penis 176
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased fertility 33
Decreased fertility in females 20
Decreased testosterone in males 28
Delayed Puberty 97
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dysgerminoma 11
Elevated follicle stimulating hormone 15
Elevated luteinizing hormone 14
Exophthalmos 112
Failure to gain weight 365
Female external genitalia in males 13
Femoral bowing 20
Fibular hypoplasia 9
Flat face 52
Frequent fractures 53
Glossoptosis 10
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
Hearing Loss, Partial 185
High forehead 102
Hydrocephalus 152
Hydronephrosis 89
Hypertrophy of clitoris 40
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of scrotum 24
Hypoplasia of vagina 14
Hypoplastic cervical vertebrae 3
Hypoplastic iliac wing 19
Hypoplastic inferior ilia 3
Hypoplastic mandible condyle 275
Hypoplastic scapulae 14
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Kyphoscoliosis deformity of spine 60
Laryngomalacia 14
Low serum estradiol levels 22
Low set ears 181
Major Depressive Disorder 301
Male Pseudohermaphroditism 19
Mandibular hypoplasia 275
Micrognathism 275
Muscle hypotonia 571
Narrow thorax 53
Orbital separation excessive 244
Ovotesticular Disorders of Sex Development 2
Pediatric failure to thrive 365
Penile hypospadias 106
Polycystic ovary syndrome 360
Polyhydramnios 108
Poorly ossified cervical vertebrae 1
Posterior displacement of the tongue 10
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Pure gonadal dysgenesis 19
Respiratory Distress Syndrome 15
Respiratory Insufficiency 132
Respiratory distress 43
Respiratory function loss 121
Rudimentary vagina 14
Sclerocystic Ovaries 17
Sex reversal 10
Short limb dwarfism recognizable at birth 9
Short limb dwarfism, disproportionate 22
Short neck 140
Short palpebral fissure 38
Short stature 531
Shortening of all phalanges of fingers 2
Shortening of all phalanges of the toes 1
Skin dimple 2
Small abnormally formed scapulae 2
Small face 10
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Streak ovary 15
Swyer Syndrome 8
Tall forehead 102
Testicular dysgenesis 9
Testicular hypogonadism 21
Testicular regression syndrome 9
Thin rib 21
Thoracic hypoplasia 14
Tibial bowing 19
Tracheobronchomalacia 2
True Hermaphroditism (disorder) 4
Unipolar Depression 250
Upper airway obstruction 6
Uranostaphyloschisis 167
Urogenital sinus anomaly 15
Uterine Anomalies 5
Varying degree of multiple fractures 53
Wide anterior fontanel 44
XX males 3
hearing impairment 199
Disease Target Count Z-score Confidence
Osteoporosis 363 0.0 3.0

Expression

  Differential Expression (30)

Disease log2 FC p
adult high grade glioma 1.200 2.0e-02
Alzheimer's disease 1.400 1.9e-02
astrocytic glioma 1.800 1.2e-03
Breast cancer 1.600 2.1e-02
colon cancer 1.300 2.7e-02
cystic fibrosis 4.206 7.6e-08
Down syndrome 1.300 1.3e-02
ductal carcinoma in situ 1.800 2.6e-02
ependymoma 1.900 5.7e-03
esophageal adenocarcinoma 2.400 1.8e-02
glioblastoma 1.500 3.2e-04
group 3 medulloblastoma -1.200 2.3e-02
intraductal papillary-mucinous adenoma (... 1.800 5.8e-04
intraductal papillary-mucinous carcinoma... 1.600 1.4e-03
intraductal papillary-mucinous neoplasm ... 1.300 1.4e-02
lung adenocarcinoma 1.422 8.7e-03
lung cancer 1.100 1.6e-03
malignant mesothelioma -4.100 8.8e-08
medulloblastoma, large-cell -3.400 4.3e-04
nephrosclerosis -1.071 1.6e-02
oligodendroglioma 1.500 5.3e-03
osteosarcoma 3.083 6.9e-03
ovarian cancer 1.800 5.7e-05
pancreatic cancer 1.300 7.0e-05
pancreatic ductal adenocarcinoma liver m... 3.263 4.8e-03
Pick disease 2.100 2.1e-05
pituitary cancer -3.800 3.0e-06
primitive neuroectodermal tumor 1.200 2.4e-03
psoriasis -1.300 7.8e-05
X-linked cerebral adrenoleukodystrophy 2.300 1.5e-02

Synonym

Accession P48436 Q53Y80
Symbols CMD1
SRA1
CMPD1
SRXX2
SRXY10

Gene

PDB

1S9M   1SX9   4EUW  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Gene RIF (265)

AA Sequence

MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFP      1 - 70
VCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLG     71 - 140
KLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQAD    141 - 210
SPHSSSGMSEVHSPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSS    211 - 280
DVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPP    281 - 350
QAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY    351 - 420
SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIP    421 - 490
QTHSPQHWEQPVYTQLTRP                                                       491 - 509
//

Text Mined References (309)

PMID Year Title