Property Summary

NCBI Gene PubMed Count 176
PubMed Score 705.86
PubTator Score 279.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 1
Abnormal hemoglobin finding 8
Abnormality of blood and blood-forming tissues 10
Abnormality of fontanelles 1
Abnormality of metabolism/homeostasis 134
Abnormality of the haematopoietic system 10
Absent frontal sinuses 8
Acquired flat foot 72
Adenoid Cystic Carcinoma 99
Ambiguous Genitalia 24
Anteverted nostril 191
Aplasia of frontal sinus 8
Autistic Disorder 364
Blepharoptosis 231
Brachydactyly 156
Broad flat nasal bridge 236
Byzanthine arch palate 194
Central incisor gap 3
Cerebral atrophy 178
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital absence of kidney 31
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital hemivertebra 25
Congenital hypoplasia of kidney 32
Congenital hypoplasia of penis 176
Congenital small ears 48
Constipation 181
Coxa valga 22
Coxa valga deformity 22
Curvature of digit 57
Decreased platelet count 111
Decreased projection of midface 105
Degenerative brain disorder 100
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Diastema between maxillary central incisors 3
Drooling 27
Dull intelligence 645
Dyschezia 135
Dysphasia 23
Dyspnea 76
Ecchymosis 66
Epilepsy 792
Everted lower lip vermilion 54
Exotropia 35
Fatigue 182
Flat face 52
Flatfoot 73
Full lower lip 64
Gastroesophageal reflux disease 110
Global developmental delay 608
Heartburn 78
Hematological Disease 18
Hemoglobin H disease 4
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydronephrosis 89
Hyperactive behavior 91
Hyperreflexia 209
Hypogonadism 173
Hypoplasia of scrotum 24
Hypoplastic mandible condyle 275
Hypoplastic myelodysplasia 18
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased tendency to bruise 66
Infantile muscular hypotonia 12
Inverted V-shaped upper lip 19
Iron-Refractory Iron Deficiency Anemia 15
Juberg-Marsidi syndrome 1
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Long narrow head 75
Low intelligence 645
Low set ears 181
Lower limb hypertonia 2
MYELODYSPLASTIC SYNDROME 53
Macroglossia 65
Macrostomia 72
Malar flattening 129
Male Pseudohermaphroditism 19
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental retardation Smith Fineman Myers type 1
Microcytic hypochromic anemia (disorder) 10
Micrognathism 275
Midface retrusion 105
Muscle Spasticity 195
Muscle hypotonia 571
Narrow cranium shape 75
Narrow forehead 34
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neutrophil count decreased 47
Open mouth 45
Optic Atrophy 242
Orbital separation excessive 244
Pancreatic Neoplasm 85
Paroxysmal bursts of laughter 2
Penile hypospadias 106
Perimembranous ventricular septal defect 3
Phenotypic variability 150
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Profound global developmental delay 17
Progressive mental retardation 37
Prominent lower lip 64
Protruding lower lip 54
Protrusion of tongue 11
Psychomotor retardation, profound 17
Radially deviated fingers 38
Reduced alpha/beta synthesis ratio 3
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Shawl scrotum 9
Short neck 140
Short nose 132
Short stature 531
Short upper lip 7
Sialorrhea 28
Slender fingers 5
Small head 374
Small midface 105
Small nose 132
Small testicle 75
Supratentorial atrophy 94
Talipes Calcaneovalgus 6
Tapering fingers (finding) 25
Telecanthus 62
Tented mouth 19
Tented upper lip 19
Thickened facial skin with coarse facial features 108
Thin upper lip vermilion 67
Thrombocytopenia 197
Triangular nasal tip 1
Turridolichocephaly 75
U-Shaped upper lip vermilion 2
Umbilical hernia 93
Upward slant of palpebral fissure 75
Vesico-Ureteral Reflux 33
Vomiting 116
Wide upper central incisors 3
X- linked recessive 110
X-linked dominant 57

Expression

  Differential Expression (17)

Disease log2 FC p
lung cancer 1.200 7.6e-04
acute myeloid leukemia 1.500 3.7e-02
astrocytic glioma -1.900 9.2e-03
atypical teratoid / rhabdoid tumor -1.400 2.5e-02
diabetes mellitus -1.400 1.3e-03
ependymoma -1.400 3.8e-02
glioblastoma -1.500 3.4e-03
hereditary spastic paraplegia -1.246 8.2e-03
lung adenocarcinoma 1.197 2.4e-06
medulloblastoma -1.200 1.3e-02
medulloblastoma, large-cell -1.600 8.0e-04
ovarian cancer -1.400 2.6e-03
Pick disease 1.200 4.1e-03
psoriasis -1.100 3.1e-04
Rheumatoid arthritis 2.000 2.9e-02
ulcerative colitis 1.500 7.6e-06
Waldenstrons macroglobulinemia 1.045 3.2e-02

Gene RIF (122)

AA Sequence

MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEK      1 - 70
SKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDD     71 - 140
FKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDIS    141 - 210
RDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTAC    211 - 280
NSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPK    281 - 350
EMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM    351 - 420
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTG    421 - 490
GEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSS    491 - 560
VKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLG    561 - 630
QENSDNEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDK    631 - 700
RNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQ    701 - 770
AGKDDKGKRKRKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR    771 - 840
IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPK    841 - 910
KQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSED    911 - 980
DKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKKIR    981 - 1050
DKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKED   1051 - 1120
GCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLR   1121 - 1190
TSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD   1191 - 1260
DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEE   1261 - 1330
SKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQ   1331 - 1400
RPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEEEEEDENDDS   1401 - 1470
KSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLD   1471 - 1540
EDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHT   1541 - 1610
VLLCDKLDFSTALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI   1611 - 1680
IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTP   1681 - 1750
LQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCVQRKDY   1751 - 1820
TALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQDFQMLSRIWTHPWCLQ   1821 - 1890
LDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNS   1891 - 1960
RSRGGGEGNVDETGNNPSVSLKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMA   1961 - 2030
EEIGDKVLVFSQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE   2031 - 2100
EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQGT   2101 - 2170
MEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDTPMLPKDTILAEL   2171 - 2240
LQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTMRFNIPTGTNLPPVSFNSQTPYIP   2241 - 2310
FNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQ   2311 - 2380
ELDVKRREAIYNDVLTKQQMLISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSN   2381 - 2450
YQQIDMRGMYQPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM                               2451 - 2492
//

Text Mined References (195)

PMID Year Title