Property Summary

Ligand Count 139
NCBI Gene PubMed Count 757
PubMed Score 2821.42
PubTator Score 3384.44

Knowledge Summary

Patent (180,270)

TINX Plot

  Disease (10)

Disease Target Count
Hyperparathyroidism 48
Intestinal Obstruction 31
Parathyroid Adenoma 19
Diarrhea 253
Abdominal Pain 98
Abnormality of cardiovascular system morphology 23
Abnormality of the integument 2
Abnormality of the sacrum 5
Acquired scoliosis 281
Arachnodactyly 49
Atresia of vagina 10
Autonomic dysregulation 6
Autonomic nervous system disorders 19
Autosomal recessive predisposition 1442
Bicornuate uterus 11
Birthmark 35
Body Temperature Changes 10
Brain hemorrhage 14
Breathing dysregulation 3
Bushy eyebrows 49
Cafe-au-Lait Spots 37
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Central hypoventilation 8
Cerebral Hemorrhage 42
Cognitive delay 608
Colon diverticulum anatomic structure 15
Congenital Bilateral Cataracts 50
Congenital Epicanthus 177
Congenital absence of kidney 31
Congenital absence of kidneys syndrome 5
Congenital cataract 50
Congenital central hypoventilation 6
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Congenital pes cavus 88
Congestive heart failure 113
Constipation 181
Curvature of spine 282
Death in early childhood 82
Death in infancy 82
Depressed nasal ridge 51
Dermatologic disorders 93
Diverticular disease of colon 15
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysautonomia 20
Dyschezia 135
Elevated calcitonin 3
Elevated heart rate 25
Elevated urinary norepinephrine 5
Epilepsy 792
Failure to gain weight 365
Failure to thrive in infancy 32
Feeding difficulties 127
Fetal polyuria 8
Foot Deformities 30
Full lower lip 64
Ganglioneuroblastoma 11
Ganglioneuroma 13
Gastroesophageal reflux disease 110
Global developmental delay 608
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 1
Heart failure 162
Heartburn 78
Hemangioma 69
High, narrow palate 32
Hypercalcemia 59
Hyperhidrosis disorder 81
Hyperkyphosis 111
Hypertension, episodic 5
Hypertensive Retinopathy 14
Hypertensive disease 292
Increase in blood pressure 119
Increased circulating cortisol level 7
Increased sweating 81
Increased urinary epinephrine 1
Intellectual disability 1016
Intestinal Diseases 11
Joint laxity 54
Kyphosis deformity of spine 114
Lordosis 54
Low Birth Weights 69
Low intelligence 645
Low set ears 181
Marfanoid body habitus 11
Maternal oligohydramnios 31
Medullary carcinoma 2
Medullary carcinoma of thyroid 2
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mouth Abnormalities 14
Muscle hypotonia 571
Myopathy 185
Nausea and vomiting 97
Nodular Goiter 6
Nonketotic hypoglycemia 6
Oligohydramnios 52
Orbital separation excessive 244
Parathyroid hyperplasia 6
Pectus excavatum 100
Pediatric failure to thrive 365
Poor school performance 645
Poor temperature regulation 10
Positive regitine blocking test 5
Posteriorly rotated ear 61
Potter's facies 10
Prenatal onset 139
Primary physiologic amenorrhea 55
Prominent lower lip 64
Proteinuria 144
Renal Artery Stenosis 9
Renal dysplasia 28
Retrognathia 54
Seizures 596
Skin Abnormalities 37
Sleep Apnea, Central 8
Slipped Capital Femoral Epiphyses 3
Small for gestational age (disorder) 69
Strabismus 270
Sweating 81
Tachycardia 43
Thyroid Neoplasm 37
Tracheoesophageal Fistula 36
Unilateral agenesis of kidney 20
Urogenital fistula 3
Weight decreased 103
Disease Target Count Z-score Confidence
Intestinal disease 14 0.0 3.0
Disease Target Count Z-score Confidence
Paraganglioma 15 0.0 5.0
lung cancer 4740 0.0 0.6
Disease Target Count Z-score Confidence
Cancer 2499 6.292 3.1

Expression

  Differential Expression (13)

Disease log2 FC p
Breast cancer 1.100 6.0e-05
aldosterone-producing adenoma -1.792 1.5e-02
astrocytic glioma 1.100 4.3e-02
atypical teratoid / rhabdoid tumor -1.400 5.7e-04
breast carcinoma 1.400 1.7e-21
ependymoma -1.800 1.9e-08
group 3 medulloblastoma -2.200 2.5e-03
medulloblastoma, large-cell -1.900 1.4e-04
osteosarcoma 1.128 1.4e-05
ovarian cancer 1.500 1.1e-09
pediatric high grade glioma -1.100 4.4e-02
pituitary cancer -2.000 3.6e-03
psoriasis 1.200 4.8e-04

 CSPA Cell Line (2)

Protein-protein Interaction (1)

Gene RIF (647)

AA Sequence

MAKATSGAAGLRLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLYVHALRDAPEEVPSFRLGQ      1 - 70
HLYGTYRTRLHENNWICIQEDTGLLYLNRSLDHSSWEKLSVRNRGFPLLTVYLKVFLSPTSLREGECQWP     71 - 140
GCARVYFSFFNTSFPACSSLKPRELCFPETRPSFRIRENRPPGTFHQFRLLPVQFLCPNISVAYRLLEGE    141 - 210
GLPFRCAPDSLEVSTRWALDREQREKYELVAVCTVHAGAREEVVMVPFPVTVYDEDDSAPTFPAGVDTAS    211 - 280
AVVEFKRKEDTVVATLRVFDADVVPASGELVRRYTSTLLPGDTWAQQTFRVEHWPNETSVQANGSFVRAT    281 - 350
VHDYRLVLNRNLSISENRTMQLAVLVNDSDFQGPGAGVLLLHFNVSVLPVSLHLPSTYSLSVSRRARRFA    351 - 420
QIGKVCVENCQAFSGINVQYKLHSSGANCSTLGVVTSAEDTSGILFVNDTKALRRPKCAELHYMVVATDQ    421 - 490
QTSRQAQAQLLVTVEGSYVAEEAGCPLSCAVSKRRLECEECGGLGSPTGRCEWRQGDGKGITRNFSTCSP    491 - 560
STKTCPDGHCDVVETQDINICPQDCLRGSIVGGHEPGEPRGIKAGYGTCNCFPEEEKCFCEPEDIQDPLC    561 - 630
DELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKPPISSAEMTFRRPAQAFPVSYSSSGARRPSLDSM    631 - 700
ENQVSVDAFKILEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELR    701 - 770
DLLSEFNVLKQVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDH    771 - 840
PDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQ    841 - 910
GRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKTGHRMERPDNCSEEM    911 - 980
YRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPR    981 - 1050
ALPSTWIENKLYGMSDPNWPGESPVPLTRADGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS         1051 - 1114
//

Text Mined References (774)

PMID Year Title