Property Summary

NCBI Gene PubMed Count 86
PubMed Score 334.04
PubTator Score 165.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal ocular motility 19
Abnormality of skull shape 3
Accessory nipple 11
Acquired scoliosis 281
Anterior chamber anomalies 4
Asymmetrical skull 3
Autosomal recessive predisposition 1442
Bilateral Cryptorchidism 3
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad feet 19
Cleft Lip 141
Cleft Palate 271
Cleft palate with cleft lip 23
Conductive hearing loss 123
Congenital deafness 185
Congenital omphalocele 20
Conjunctival telangiectasis 14
Coronal craniosynostosis 14
Craniosynostosis 74
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Diastasis recti 9
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Dull intelligence 645
Epicanthus inversus 3
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hydronephrosis 89
Hypoplastic feet 66
Inadequate arch length for tooth size 45
Intellectual disability 1016
Large fleshy ears 2
Limited pronation/supination of forearm 2
Lordosis 54
Low intelligence 645
Malformation of skull shape 3
Mental Retardation 645
Mental deficiency 645
Mild Mental Retardation 70
Oral cleft 18
Orbital separation excessive 244
Poor growth 114
Poor school performance 645
Postnatal growth retardation 57
Radioulnar synostosis 35
Sacral dimples 18
Short fifth finger 9
Single interphalangeal crease of fifth finger 2
Skull malformation 38
Small head 374
Spina bifida occulta 19
Synostotic Posterior Plagiocephaly 8
Telecanthus 62
Thick, flared eyebrows 41
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Uranostaphyloschisis 167
Very poor growth 114
Wide anterior fontanel 44
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
3MC syndrome 6 6.559 3.3
Disease Target Count
3MC syndrome 1 1

Expression

  Differential Expression (11)

Disease log2 FC p
adult high grade glioma 2.000 6.5e-05
astrocytic glioma 1.100 2.0e-03
Breast cancer -1.400 4.0e-02
ependymoma 2.400 9.1e-11
fibroadenoma 1.200 1.7e-03
glioblastoma 1.100 3.1e-02
group 3 medulloblastoma -1.300 1.2e-02
oligodendroglioma 2.300 3.7e-03
pancreatic ductal adenocarcinoma liver m... -1.520 1.6e-02
ulcerative colitis 1.300 2.8e-02
X-linked cerebral adrenoleukodystrophy -1.200 2.3e-02

Synonym

Accession P48740 A8K542 A8K6M1 B4E2L7 O95570 Q68D21 Q8IUV8 Q96RS4 Q9UF09
Symbols 3MC1
MAP1
MASP
RaRF
CRARF
MASP3
MAp44
PRSS5
CRARF1

Gene

PANTHER Protein Class (3)

Gene RIF (67)

AA Sequence

MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESS      1 - 70
YLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDV     71 - 140
DECKEREDEELSCDHYCHNYIGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSS    141 - 210
ECLYTIELEEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFH    211 - 280
SDNSGENRGWRLSYRAAGNECPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECL    281 - 350
KDGTWSNKIPTCKIVDCRAPGELEHGLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVW    351 - 420
MNKVLGRSLPTCLPVCGLPKFSRKLMARIFNGRPAQKGTTPWIAMLSHLNGQPFCGGSLLGSSWIVTAAH    421 - 490
CLHQSLDPEDPTLRDSDLLSPSDFKIILGKHWRLRSDENEQHLGVKHTTLHPQYDPNTFENDVALVELLE    491 - 560
SPVLNAFVMPICLPEGPQQEGAMVIVSGWGKQFLQRFPETLMEIEIPIVDHSTCQKAYAPLKKKVTRDMI    561 - 630
CAGEKEGGKDACAGDSGGPMVTLNRERGQWYLVGTVSWGDDCGKKDRYGVYSYIHHNKDWIQRVTGVRN     631 - 699
//

Text Mined References (99)

PMID Year Title