Property Summary

NCBI Gene PubMed Count 148
PubMed Score 140.89
PubTator Score 246.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
LIG4 Syndrome 2 0.0 0.0
Multiple myeloma 1332 0.0 5.0
Disease Target Count
Severe combined immunodeficiency 51
Abnormality of female external genitalia 8
Abnormality of the antihelix 10
Absence of eyebrows 31
Acute blood cancer 6
Acute leukemia 15
Alopecia 115
Aplasia/Hypoplasia of the eyebrow 31
Attention deficit hyperactivity disorder 278
Atypical lymphocyte observed 10
Bilateral fifth finger clinodactyly 110
Biparietal narrowing 28
Bird-like facies 4
Blepharophimosis 70
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Broad thumbs 28
Chromosome Breakage 36
Chronic diarrhea 29
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital deafness 185
Cryptorchidism 296
Curvature of little finger 110
Deafness 198
Decreased width of the skull 28
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Desquamation of skin soon after birth 10
Diffusely thickened skin 20
Dry skin 75
Dull intelligence 645
Eczema 45
Edema 81
Eosinophilia 28
Erythema 58
Exfoliative dermatitis 24
Failure to gain weight 365
Fetal Growth Retardation 189
Fever 138
Fine hair 42
Flushing 60
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hepatomegaly 285
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Increased chromosomal breakage 27
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Large beaked nose 5
Late fontanel closure 28
Laterally sparse eyebrows 12
Low anterior hairline 30
Low intelligence 645
Low-set, posteriorly rotated ears 110
Lymphadenopathy 62
Lymphoma 81
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Narrow face 54
Nasal bridge wide 236
Orbital separation excessive 244
Pachyderma 20
Pancytopenia 45
Pediatric failure to thrive 365
Penile hypospadias 106
Photosensitivity of skin 51
Pneumonia 174
Poor growth 114
Poor school performance 645
Postnatal growth retardation 57
Prominent ear 56
Protruding ears 56
Pruritus 58
Recurrent infections 48
Respiratory Insufficiency 132
Respiratory function loss 121
Sandal gap 24
Short stature 531
Sloping forehead 46
Small hand 36
Small head 374
Sparse or absent eyebrows 31
Sparse scalp hair 42
Sparse/absent eyebrows 31
Splenomegaly 190
Submucous cleft of hard palate 11
Submucous clefting 9
Telecanthus 62
Thin face 54
Thin lips 49
Thumb absent or hypoplastic 9
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upward slant of palpebral fissure 75
Very poor growth 114
Wide anterior fontanel 44
Wide skull shape 88
Xerosis 75
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
lung cancer 4740 0.0 0.5

Expression

  Differential Expression (10)

Disease log2 FC p
Alzheimer's disease -1.100 4.0e-02
atypical teratoid / rhabdoid tumor -1.100 6.0e-03
Gaucher disease type 3 -1.100 2.2e-03
glioblastoma -1.100 2.2e-03
intraductal papillary-mucinous adenoma (... 1.200 7.4e-03
intraductal papillary-mucinous neoplasm ... 1.300 1.9e-02
medulloblastoma, large-cell -1.100 1.1e-03
osteosarcoma 1.512 1.5e-03
Pick disease -1.500 9.5e-05
progressive supranuclear palsy -1.300 2.0e-02

Gene RIF (115)

AA Sequence

MAASQTSQTVASHVPFADLCSTLERIQKSKGRAEKIRHFREFLDSWRKFHDALHKNHKDVTDSFYPAMRL      1 - 70
ILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLNYRTPTGTHGDAGDFAMIAYFVLKPRCLQK     71 - 140
GSLTIQQVNDLLDSIASNNSAKRKDLIKKSLLQLITQSSALEQKWLIRMIIKDLKLGVSQQTIFSVFHND    141 - 210
AAELHNVTTDLEKVCRQLHDPSVGLSDISITLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQ    211 - 280
MHKDGDVYKYFSRNGYNYTDQFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFMQKGTKFD    281 - 350
IKRMVEDSDLQTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIEIVQKTQAHTKNEVIDALNE    351 - 420
AIDKREEGIMVKQPLSIYKPDKRGEGWLKIKPEYVSGLMDELDILIVGGYWGKGSRGGMMSHFLCAVAEK    421 - 490
PPPGEKPSVFHTLSRVGSGCTMKELYDLGLKLAKYWKPFHRKAPPSSILCGTEKPEVYIEPCNSVIVQIK    491 - 560
AAEIVPSDMYKTGCTLRFPRIEKIRDDKEWHECMTLDDLEQLRGKASGKLASKHLYIGGDDEPQEKKRKA    561 - 630
APKMKKVIGIIEHLKAPNLTNVNKISNIFEDVEFCVMSGTDSQPKPDLENRIAEFGGYIVQNPGPDTYCV    631 - 700
IAGSENIRVKNIILSNKHDVVKPAWLLECFKTKSFVPWQPRFMIHMCPSTKEHFAREYDCYGDSYFIDTD    701 - 770
LNQLKEVFSGIKNSNEQTPEEMASLIADLEYRYSWDCSPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAI    771 - 840
KALELRFHGAKVVSCLAEGVSHVIIGEDHSRVADFKAFRRTFKRKFKILKESWVTDSIDKCELQEENQYL    841 - 910
I//

Text Mined References (153)

PMID Year Title